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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
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect, Ectopic anus... ORPHA:2476
Gombo Syndrome
Radial deviation of finger, Clinodactyly, Abnormal heart morphology, Brachydactyly, Microphthalmia OMIM:233270
Fryns Microphthalmia Syndrome
Tessier cleft, Anophthalmia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmia, Neural ... OMIM:600776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta ORPHA:64754
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Biemond Syndrome Type 2
Microphthalmia, Hydrocephalus, Preaxial polydactyly ORPHA:141333
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Cleft lip, Sandal gap, Diastema, Preaxial polydactyly, Genu valgu... OMIM:617927
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... OMIM:615297
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal heart morphology, Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Abno... ORPHA:294975
Acropectorovertebral Dysplasia
High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin... ORPHA:957
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Bowing of the long bones, P... OMIM:611561
Meckel Syndrome, Type 2
Intestinal malrotation, Encephalocele, Polydactyly, Bowing of the long bones, Postaxial hand poly... OMIM:603194
Mmep Syndrome
Ventricular septal defect, Median cleft upper lip, Orofacial cleft, Triphalangeal thumb, Micropht... ORPHA:3434
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Bowing of the long bones, Hydrocephalus, Atrial septal ... OMIM:611134
Joubert Syndrome 15
Exencephaly, Preaxial polydactyly OMIM:614464
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Preaxial foot polydactyly, Hydrocephalus, Postaxial hand polydactyly,... OMIM:614120
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Small hypothenar eminence, Long philtrum, Mitral valve prolapse, T... OMIM:211960
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Polydactyly, Preaxial I
Radial deviation of thumb terminal phalanx, Partial duplication of thumb phalanx, Preaxial hand p... OMIM:174400
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Easily subluxated first metacarpophalangeal joints, Clinodactyly ... OMIM:311895
Acalvaria
Hydrocephalus, Spina bifida, Postaxial hand polydactyly, Holoprosencephaly, Cleft palate ORPHA:945
Meckel Syndrome, Type 8
Occipital encephalocele, Cleft upper lip, Encephalocele, Anophthalmia, Polydactyly, Talipes equin... OMIM:613885
Anencephaly 2
Median cleft palate, Anophthalmia, Median cleft upper lip, Cleft maxillary alveolar ridge, Anence... OMIM:619452
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Anophthalmia, Orofacial cleft, Microphthalmia, Holoprosencephaly OMIM:611638
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Non-midline cleft of the upper lip, Encephalocele, Split hand, ... ORPHA:2117
Frontonasal Dysplasia 1
Cranium bifidum occultum, Joint contracture of the hand, Anterior basal encephalocele, Clinodacty... OMIM:136760
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Overlapping fingers, Overlapping toe, Ventricular septal defect, Postaxial ... OMIM:618142
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple... OMIM:186350
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Narrow mouth, ... ORPHA:90652
Greig Cephalopolysyndactyly Syndrome
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Broad thumb, Umbilical hernia, Pre... ORPHA:380
Multiple Synostoses Syndrome 3
Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,... OMIM:612961
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Feingold Syndrome 2
Short thumb, 3-4 toe syndactyly, Short middle phalanx of the 2nd finger, Ventricular septal defec... OMIM:614326
Diprosopus
Anencephaly, Abnormal cardiac septum morphology, Cleft palate, Non-midline cleft of the upper lip ORPHA:1681
Humero-Radial Synostosis
Elbow dislocation, Abnormality of the wrist, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, ... ORPHA:3265
Preaxial Hallucal Polydactyly
Preaxial foot polydactyly, Preaxial hand polydactyly OMIM:601759
Feingold Syndrome Type 2
Toe syndactyly, Short thumb, Jejunal atresia, Ventricular septal defect, Brachydactyly, Short mid... ORPHA:391646
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Hydranencephaly, Truncus arteriosus, Ventricular septal defect, C... OMIM:601355
Duane-Radial Ray Syndrome
Ventricular septal defect, Aplasia of metacarpal bones, Small thenar eminence, Atrial septal defe... OMIM:607323
2Q24 Microdeletion Syndrome
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing... ORPHA:1617
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Occipital encephalocele OMIM:213010
Anophthalmia Plus Syndrome
Tessier cleft, Deviation of finger, Anophthalmia, Bilateral cleft palate, Spina bifida, Non-midli... ORPHA:1104
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Schisis Association
Micromelia, Unilateral cleft lip, Encephalocele, Tracheoesophageal fistula, Spina bifida, Anal at... ORPHA:63862
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Cleft upper lip, Foot oligodactyly, Anterior encephalocele, Bilateral cleft palate... OMIM:601357
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Distal shortening of limbs, Ventricular ... OMIM:146510
Joubert Syndrome 18
Occipital encephalocele, Trident pelvis, Ventricular septal defect, Bowing of the long bones, Tal... OMIM:614815
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Intestinal malrotation, Duodenal stenosis, Abnormal tricuspid valve morp... ORPHA:1759
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Orofacial cleft, Occipital encephalocele, Hydrocephalus, Microphthalmia ORPHA:324416
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Catel-Manzke Syndrome
Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Radial deviation of the 2n... ORPHA:1388
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Cleft lip, Natal tooth, Short tibia, Preaxial polydactyly, Hamartoma of tongue, Hypop... OMIM:616300
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Rocker bottom foot, Cleft palate, Microphthalmia OMIM:616570
Facial Clefting, Oblique, 1
Cleft upper lip, Tessier number 4 facial cleft, Deep palmar crease, Microphthalmia, Cleft palate OMIM:600251
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Preaxial polydactyly, Intestinal malrotation, Ulnar bowing, Single tra... OMIM:617866
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Y-shaped metatarsals, Bro... OMIM:175700
Xk Aprosencephaly Syndrome
Narrow mouth, Ventricular septal defect, Atrial septal defect, Abnormal morphology of the radius,... ORPHA:3469
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Polysyndactyly of hallux, Preaxial foot polydactyly, Ventricular septal de... OMIM:235750
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Encephalocele, Cleft palate ORPHA:217
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Anophthalmia, Orbital encephalocele, Microphthalmia, Cleft palate OMIM:164180
Ivic Syndrome
Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carpal bone hypoplasia, ... OMIM:147750
Aminopterin/Methotrexate Embryofetopathy
Mesomelia, Spinal dysraphism, Finger syndactyly, Micromelia, Tetralogy of Fallot, Situs inversus ... ORPHA:1908
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Cleft upper lip, Preaxial polydactyly, Hamartoma of ton... OMIM:613091
Biemond Syndrome Ii
Hydrocephalus, Preaxial hand polydactyly OMIM:210350
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Micromelia, Preaxial polydactyly, Hamartoma of tongue, Occipital meningocele, ... OMIM:616546
Hydrolethalus
Bifid uvula, Gingival cleft, Micromelia, Unilateral cleft lip, Anophthalmia, Submucous cleft hard... ORPHA:2189
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Ventricular septal defect, Umbilical hernia ORPHA:1918
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Ventricular septal defect, Smooth philtrum, Hydrocephalus, Microphthalmia, Syndactyly OMIM:602501
Craniofacial Microsomia 2
Bifid uvula, Dermal sinus tract, Submucous cleft palate OMIM:620444
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cleft lip, Shoulder flexion contracture, Pursed lips, Camptodactyly of finger, Elbow... OMIM:619110
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Hydrocephalus, Postaxial hand p... OMIM:607361
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Intestinal malrotation, Anophthalmia, Ventricular septal defect, Microph... OMIM:615524
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Orofacial cleft, Large hands, Preaxial hand polydactyly ORPHA:85287
Endocrine-Cerebroosteodysplasia
Natal tooth, Sandal gap, Micromelia, Preaxial polydactyly, Thick upper lip vermilion, Fibular bow... OMIM:612651
Oculofaciocardiodental Syndrome
Tooth malposition, Genu valgum, Mitral valve prolapse, Radioulnar synostosis, Microphthalmia, Sub... ORPHA:2712
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Ventricular septal defect, Ectopic anus, Spina bifida, Anal atresia... ORPHA:2345
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, High palate, Accessory oral frenulum, Syndactyly, Preaxial hand polyd... OMIM:252100
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Tessier cleft, Broad proximal phalanges of the hand, Cleft upper lip, Bilate... OMIM:607597
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Abnormal morphology of ulna, Abnormal metacarpal mo... ORPHA:3104
Curry-Jones Syndrome
Anal stenosis, Broad thumb, Lip pit, Intestinal pseudo-obstruction, Preaxial hand polydactyly, In... OMIM:601707
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Atrioventricular canal de... ORPHA:1120
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Median cleft palate, Microphthalmia ORPHA:2432
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Microphthalmia ORPHA:1528
Split-Hand/Foot Malformation 1
Finger aplasia, Clinodactyly, Broad hallux, Ectrodactyly, Foot oligodactyly, Split foot, Triphala... OMIM:183600
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Toe syndactyly, Long philtrum, Narrow mouth, Exaggerated cupid's bow, Ventricul... ORPHA:261120
Meckel Syndrome, Type 10
Bifid uvula, Postaxial foot polydactyly, Occipital encephalocele, Postaxial polydactyly, Ulnar de... OMIM:614175
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Narrow mouth, Ventricular septal defect, Hydrocephalus, Abnormal cardiac septum morphology, Posta... ORPHA:83473
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Hand polydactyly, Atrial septal defect, Everted lower lip vermilion, A... OMIM:249670
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Anophthalmia, Talipes equinovarus, Microphthalmia, Hi... OMIM:206920
Kondoh Syndrome
Thin upper lip vermilion, Interphalangeal joint contracture of finger, Long philtrum, Preaxial ha... OMIM:606242
Blepharocheilodontic Syndrome 1
Conical tooth, Clinodactyly, Cleft upper lip, Hypodontia, Cutaneous syndactyly, Anal atresia, Neu... OMIM:119580
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia OMIM:218670
Microphthalmia, Syndromic 8
Cleft upper lip, Orofacial cleft, Cleft palate, Microphthalmia, Widely-spaced maxillary central i... OMIM:601349
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Single transverse palmar... ORPHA:2437
Eng-Strom Syndrome
Ventricular septal defect, Brachydactyly, Abnormal cardiac septum morphology, Camptodactyly of fi... ORPHA:1937
Triploidy
Finger syndactyly, Intestinal malrotation, Narrow mouth, Aplasia/Hypoplasia affecting the eye, Hy... ORPHA:3376
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Mesomelic arm shortening, C... OMIM:249710
Orofaciodigital Syndrome Type 6
Midline notch of upper alveolar ridge, Finger clinodactyly, Preaxial polydactyly, Hamartoma of to... ORPHA:2754
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Microglossia, Bilateral microphthalmos... ORPHA:2839
Stromme Syndrome
Preaxial polydactyly, Intestinal malrotation, Jejunal atresia, Hydrocephalus, Microphthalmia, Wid... OMIM:243605
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
3P25.3 Microdeletion Syndrome
High, narrow palate, Broad thumb, Broad hallux, Downturned corners of mouth, Overlapping toe, Ven... ORPHA:435638
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Fibular aplasia, High palate, Accessory oral frenulum, Hypoplastic ... OMIM:277170
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
17Q12 Microduplication Syndrome
Toe syndactyly, Finger syndactyly, Tracheoesophageal fistula, Atrial septal defect, Microphthalmi... ORPHA:261272
Aase-Smith Syndrome I
Slender finger, Open mouth, Ventricular septal defect, Talipes equinovarus, Hydrocephalus, Cleft ... OMIM:147800
Congenital Vertical Talus
Myelomeningocele, Rocker bottom foot, Equinus calcaneus ORPHA:178382
Holzgreve Syndrome
Hypoplastic left heart, Hand polydactyly, Cleft palate, Cleft upper lip OMIM:236110
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Downturned corners of mouth, Ventricular septal defect, Short philtrum, Ectopic anus, Aplasia/Hyp... ORPHA:94066
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology, Preaxial hand polydact... ORPHA:3098
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Dilated cardiomyopathy, Sandal gap, Ventricular septal defect, Clinodactyly ... ORPHA:2515
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Pseudotrisomy 13 Syndrome
Postaxial foot polydactyly, Cleft upper lip, Median cleft palate, Encephalocele, Complete atriove... OMIM:264480
Diaphanospondylodysostosis
Myelomeningocele, Narrow pelvis bone, Cleft palate ORPHA:66637
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Open mouth, Encephalocele, Irregular dentition, Talipes equinovarus, Small thena... OMIM:619148
Sonoda Syndrome
Narrow mouth, High axial triradius, Ventricular septal defect OMIM:270460
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Joubert Syndrome 14
Open mouth, Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Postaxial polyd... OMIM:614424
Carpenter Syndrome 1
Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Genu valgum, Ventricula... OMIM:201000
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Toe syndactyly, Dental malocclusion, Short toe, Downturned corner... ORPHA:1327
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Abnormality of the dentition, Microphthalmia OMIM:251700
Pierpont Syndrome
Short toe, Prominent fingertip pads, Short finger, Widely spaced teeth, Microphthalmia, Prominent... OMIM:602342
Pierpont Syndrome
Short toe, Prominent fingertip pads, Short finger, Widely spaced teeth, Excessive wrinkling of pa... ORPHA:487825
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu... ORPHA:65759
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Anophthalmia, Talip... ORPHA:93323
Parietal Foramina 1
Cleft upper lip, Encephalocele, Cleft palate OMIM:168500
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Broad distal phalanx of finger, Postaxial foot polydactyly, Downturned corners of mo... ORPHA:404440
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Avascular necrosis of the capital femoral epiphysis, Overlapping toe, Ventricular septal defect, ... OMIM:614262
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Non-midline cleft of the upper lip, Tooth agenesis, Bilateral cleft palate, Meningocele, Hip disl... ORPHA:2003
Isolated Hemihyperplasia
Myelomeningocele, Abnormality of the dentition ORPHA:2128
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Cutaneous finger syndactyly, 2-3 toe syndactyly, Median cleft upper lip, Split ha... DECIPHER:46
Bardet-Biedl Syndrome 7
Clinodactyly, Narrow mouth, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Oculoauriculofrontonasal Syndrome
Cleft lip, Narrow mouth, Encephalocele, Ventricular septal defect, Broad philtrum, Cleft palate ORPHA:398156
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Abnormal epiphysis morphology, Downturned corners of mouth, Abnormal metaphysis morph... ORPHA:93267
Enlarged Parietal Foramina
Broad thumb, Occipital encephalocele, Cleft lip, Myelomeningocele, Short clavicles, Cleft palate ORPHA:60015
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Tetralogy of Fallot, Abnormal perica... ORPHA:1335
Jawad Syndrome
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal crease of fifth ... OMIM:251255
Cranioacrofacial Syndrome
Abnormal hand morphology, Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect OMIM:122850
Lambotte Syndrome
Preaxial foot polydactyly, Semilobar holoprosencephaly, Narrow mouth, Ventricular septal defect OMIM:245552
Cousin Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Dis... OMIM:260660
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypoplastic iliac w... ORPHA:163966
Pelger-Huet Anomaly
Abnormality of the dentition, Short 3rd metacarpal, Umbilical hernia, Upper limb undergrowth, Sho... OMIM:169400
Brachydactyly-Preaxial Hallux Varus Syndrome
Broad thumb, Preaxial hand polydactyly, Radial club hand, Abnormal palate morphology, Brachydacty... ORPHA:1278
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Elbow dislocation, Synostosis of carpal bones, Short ... ORPHA:1106
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Nemaline Myopathy 9
High palate, Cleft palate, Ventricular septal defect OMIM:615731
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Median cleft upper lip, High palate, Cleft palate, Syndactyly OMIM:300484
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 5th finger, Broad thumb, Gastroesophageal reflux, Sandal gap, Broad hallux, Secundum atrial... OMIM:600987
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Clino... OMIM:169550
Vater/Vacterl Association
Occipital encephalocele, Short thumb, Preaxial polydactyly, Tetralogy of Fallot, Ventricular sept... OMIM:192350
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Narrow mouth, Microphthalmia ORPHA:2528
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Cleft palate, Microphthalmia OMIM:120433
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Gastroesophageal reflux, Prominent fingertip pads, Anteriorly placed anus, L... OMIM:618494
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Cleft upper lip, Widely spaced teeth, Tented upper lip vermilion, Ventricular septal ... OMIM:612530
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip vermilion, Narro... OMIM:200990
Moebius Syndrome
Hand clenching, Bifid uvula, Abnormal pelvic girdle bone morphology, Abnormality of the dentition... OMIM:157900
Trisomy 4P
Abnormality of the dentition, Carious teeth, Camptodactyly of finger, Radial club hand, Preaxial ... ORPHA:1738
Sirenomelia
Aplasia/Hypoplasia of the radius, Sirenomelia, Tracheoesophageal fistula, Spina bifida, Anal atresia ORPHA:3169
Braddock-Carey Syndrome 2
Clinodactyly, Microphthalmia, Wide mouth, Cleft palate, Pierre-Robin sequence OMIM:619981
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Cleft soft palate, Smooth philtrum, Esophageal atresia, Atrial septal defect, Brachy... OMIM:614526
Craniorachischisis
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anal atre... ORPHA:63260
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Hydrocephalus, Cleft palate OMIM:258320
Oculoauriculovertebral Spectrum With Radial Defects
Preaxial hand polydactyly, Atrioventricular canal defect, Aplasia/Hypoplasia of the thumb, Ectopi... ORPHA:2549
Pallister-Hall-Like Syndrome
Toe syndactyly, Microglossia, Occipital encephalocele, Postaxial foot polydactyly, Micromelia, Me... OMIM:241800
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft lip, Natal tooth, Short tibia, Preaxial polydactyly, Hamartoma of tongue, Tetralogy of Fall... OMIM:617925
Intellectual Developmental Disorder, Autosomal Recessive 79
Slender finger, Ventricular septal defect, Thin upper lip vermilion, Smooth philtrum, Short hallu... OMIM:620393
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Microphthalmia OMIM:614830
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Gastroesophageal reflux, Cleft palate OMIM:612913
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Ventricular septal defect, Postaxial poly... OMIM:615503
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Temtamy Syndrome
Short toe, Thick lower lip vermilion, Abnormal palate morphology, Brachydactyly, Microphthalmia, ... ORPHA:1777
Jackson-Weiss Syndrome
Toe syndactyly, Preaxial foot polydactyly, Abnormal palate morphology, Symphalangism affecting th... ORPHA:1540
Joubert Syndrome 16
Encephalocele, Polydactyly OMIM:614465
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Accessory oral fren... OMIM:258860
Intellectual Developmental Disorder, Autosomal Recessive 73
Widely spaced teeth, Thick upper lip vermilion, Single transverse palmar crease, Ventricular sept... OMIM:619717
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening of limbs, ... OMIM:300863
Vitamin K Antagonist Embryofetopathy
Short distal phalanx of finger, Myelomeningocele, Epiphyseal stippling, Brachydactyly, Hydrocepha... ORPHA:1914
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Lissencephaly 8
Talipes equinovarus, Occipital encephalocele, Microphthalmia OMIM:617255
Orofaciodigital Syndrome Xvii
High, narrow palate, Clinodactyly, Tetralogy of Fallot, Short middle phalanx of the 2nd finger, P... OMIM:617926
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Brachydactyly, Clinodactyly, Syndactyly OMIM:610023
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Hydrocephalus, Cardiomyopathy, Microphthalmia OMIM:613155
15Q24 Microdeletion Syndrome
Abnormality of the dentition, Small hand, Clinodactyly, Long philtrum, Thick lower lip vermilion,... ORPHA:94065
Chromosome 15Q14 Deletion Syndrome
Cleft lip, Tented upper lip vermilion, Ventricular septal defect, Atrial septal defect, Everted l... OMIM:616898
14Q24.1Q24.3 Microdeletion Syndrome
Short thumb, Long philtrum, Intestinal malrotation, Abnormal heart morphology, Limited elbow exte... ORPHA:401935
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Triphalangeal thumb, Postaxial hand polydactyly ORPHA:2091
Frontorhiny
Cranium bifidum occultum, Finger clinodactyly, Camptodactyly of finger, Encephalocele, Basal ence... ORPHA:391474
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Curry-Jones Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Intestinal malrotation... ORPHA:1553
Fliedner-Zweier Syndrome
Long philtrum, Ventricular septal defect, Bicuspid aortic valve, Hallux valgus, Anal atresia, Tra... OMIM:620511
Cat Eye Syndrome
Hypoplastic left heart, Anal stenosis, Total anomalous pulmonary venous return, Meckel diverticul... OMIM:115470
Monosomy 18P
Tooth malposition, Carious teeth, Downturned corners of mouth, Hypodontia, Brachydactyly, Microph... ORPHA:1598
Orofaciodigital Syndrome Xiv
Cleft lip, Occipital encephalocele, Broad hallux, Anteriorly placed anus, Preaxial polydactyly, H... OMIM:615948
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Postaxial foot polydactyly, Mesoaxial hand polydactyly, Partial atriovent... OMIM:615996
Sandestig-Stefanova Syndrome
Clinodactyly, Muscular ventricular septal defect, Bilateral single transverse palmar creases, Per... OMIM:618804
Bresek Syndrome
Aganglionic megacolon, Hydrocephalus, Microphthalmia, Postaxial hand polydactyly, Cleft palate, O... ORPHA:85284
Fountain Syndrome
Short distal phalanx of finger, Coarse metaphyseal trabecularization, Thick lower lip vermilion, ... ORPHA:3219
Lambert Syndrome
Wide mouth, Branchial anomaly, Ventricular septal defect ORPHA:1296
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb shortening, Abnormal mitral valve ... ORPHA:1354
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Broad thumb, Finger syndactyly, Long philtrum, Preaxial hand polydactyly, Encephalocele, Exenceph... ORPHA:2211
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Umbilical hernia, Hypertrophic cardiomyopathy, Protruding tongue, Ventricular septal... OMIM:612938
Bartsocas-Papas Syndrome 2
Small hand, Absent distal phalanges, Bilateral cleft palate, Bilateral cleft lip, 2-5 finger cuta... OMIM:619339
Adams-Oliver Syndrome
Short distal phalanx of finger, Gastrointestinal hemorrhage, Finger syndactyly, Tetralogy of Fall... ORPHA:974
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Broad first metatarsal... ORPHA:2751
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Epiphyseal stippling, Ventricular septal defect OMIM:614876
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Median cleft pal... ORPHA:1827
Char Syndrome
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Persistence of primary te... ORPHA:46627
Verheij Syndrome
Short 5th finger, Clinodactyly, Branchial cyst, Long philtrum, Ventricular septal defect, Truncus... OMIM:615583
Diabetic Embryopathy
Spinal dysraphism, Tetralogy of Fallot, Ventricular septal defect, Aplasia/Hypoplasia affecting t... ORPHA:1926
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Umbilical hernia, Joint contracture of the 5th finger, Joint contracture of the 4th f... OMIM:618914
Caudal Duplication
Myelomeningocele, Intestinal duplication, Spina bifida ORPHA:1756
Mosaic Trisomy 9
Tessier cleft, Elbow dislocation, Finger clinodactyly, Camptodactyly of finger, Intestinal malrot... ORPHA:99776
Trisomy 8Q
Camptodactyly of finger, Myelomeningocele, Deep palmar crease, Abnormal oral frenulum morphology,... ORPHA:1752
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Ventricular septal defect, Short hard palate, Spina bifida, Cl... ORPHA:1393
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Pu... OMIM:220210
Bardet-Biedl Syndrome 4
Abnormality of the dentition, Syndactyly, Brachydactyly, Polydactyly OMIM:615982
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Clinodactyly, Downturned corners of mouth, Umbilical hernia, Abnormal heart morphology, Widely sp... ORPHA:369891
Fanconi Anemia, Complementation Group R
Absent thumb, Radial dysplasia, Agenesis of permanent teeth, Hydrocephalus, Microphthalmia, Anal ... OMIM:617244
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Carpenter Syndrome 2
Broad thumb, Carious teeth, Cutaneous finger syndactyly, Talipes equinovarus, Atrial septal defec... OMIM:614976
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
8P23.1 Duplication Syndrome
Toe syndactyly, Long philtrum, Tetralogy of Fallot, Ventricular septal defect, Thick vermilion bo... ORPHA:251076
3Q29 Microduplication Syndrome
Abnormality of the dentition, Toe syndactyly, Sandal gap, Aniridia, Ventricular septal defect, Ca... ORPHA:251038
Suleiman-El-Hattab Syndrome
Clinodactyly, Downturned corners of mouth, Long philtrum, Thick lower lip vermilion, Single trans... OMIM:618950
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Sandal gap, Long philtrum, Tetralogy of Fallot, Atrial septal defect, Mi... OMIM:300887
Kapur-Toriello Syndrome
Joint contracture of the hand, Short thumb, Cleft upper lip, Camptodactyly of finger, Intestinal ... OMIM:244300
Trisomy 13
High, narrow palate, Abnormality of the dentition, Abnormal pelvic girdle bone morphology, Ectrod... ORPHA:3378
Focal Dermal Hypoplasia
Toe syndactyly, Finger syndactyly, Open bite, Ventricular septal defect, Microphthalmia, Duodenal... ORPHA:2092
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Ve... OMIM:113000
Joubert Syndrome 17
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly OMIM:614615
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Broad thumb, Umbilical hernia, Bilateral single transverse palmar creases, Ventricular septal def... ORPHA:1770
Trisomy 1Q
Toe syndactyly, Preaxial hand polydactyly, Camptodactyly of finger, Narrow mouth, Anophthalmia, V... ORPHA:261344
Phaver Syndrome
Ulnar deviation of finger, Broad thumb, Short thumb, Camptodactyly of finger, Myelomeningocele, V... ORPHA:2876
Filippi Syndrome
2-4 toe syndactyly, Finger clinodactyly, Serrated incisors, Abnormal dental morphology, Single tr... OMIM:272440
Neurooculocardiogenitourinary Syndrome
Downturned corners of mouth, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Smoot... OMIM:618652
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Hemiatrophy of upper limb, Downturned corners of mouth, Long philtrum, Abnormal f... ORPHA:163649
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Broad 2nd toe, Ventricular septal defect, Arachnodactyly, 2-3 fin... ORPHA:1692
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Ventricular septal defect, Tracheoesophageal fistula, Esophageal atresia, Hydroceph... ORPHA:77298
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Elbow dislocation, Short thumb, Sanda... ORPHA:90650
Cardioacrofacial Dysplasia 1
Conical tooth, Diastema, Atrioventricular canal defect, Genu valgum, Complete atrioventricular ca... OMIM:619142
Rhombencephalosynapsis
Finger syndactyly, Narrow mouth, Polydactyly, Aganglionic megacolon, Tracheoesophageal fistula, E... ORPHA:59315
Trisomy 18
Narrow palate, Deviation of finger, Non-midline cleft of the upper lip, Camptodactyly of finger, ... ORPHA:3380
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Delayed eruption of permanent teeth, Exaggerated cupid's bow, Ventricular septal defect, Thick ve... OMIM:618506
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, High palate, Cleft palate, Tooth agenesis ORPHA:1135
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
2Q31.1 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Ventricular septal defect, Abnormal... ORPHA:251014
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long philtrum, Preaxial ... ORPHA:1988
Alg3-Cdg
Cardiomyopathy, Metaphyseal chondrodysplasia, Abnormality of the gastrointestinal tract, Abnormal... ORPHA:79321
Acrofacial Dysostosis, Catania Type
Carious teeth, Single transverse palmar crease, Brachydactyly, Short palm, Spina bifida occulta, ... OMIM:101805
Limb Body Wall Complex
Cutaneous finger syndactyly, Encephalocele, Aplasia/hypoplasia involving bones of the upper limbs... ORPHA:2369
Braddock-Carey Syndrome 1
Small hand, Clinodactyly, Anteriorly placed anus, Ventricular septal defect, Aortic valve prolaps... OMIM:619980
Basal Cell Nevus Syndrome 1
Palmar pits, Irregular ossification of hand bones, Short distal phalanx of the thumb, Cleft upper... OMIM:109400
Microgastria-Limb Reduction Defect Syndrome
Elbow dislocation, Esophagitis, Anophthalmia, Perineal fistula, Abnormal metacarpal morphology, A... ORPHA:2538
3C Syndrome
Aortic valve stenosis, Finger syndactyly, Abnormal mitral valve morphology, Ventricular septal de... ORPHA:7
Diamond-Blackfan Anemia 6
Bifid uvula, Ventricular hypertrophy, Short thumb, Cleft upper lip, Tetralogy of Fallot, Mitral v... OMIM:612561
Subependymal Nodular Heterotopia
Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele ORPHA:101030
8Q12 Microduplication Syndrome
Gastroesophageal reflux, Long philtrum, Narrow mouth, Ventricular septal defect, Atrial septal de... ORPHA:228399
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Mesomelia, Short distal phalanx of finger, Hypoplastic scapulae, Short uvula, Micromelia, Agenesi... OMIM:614091
Steinfeld Syndrome
Bifid uvula, Abnormal heart morphology, Median cleft palate, Median cleft upper lip, Aplasia/Hypo... OMIM:184705
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Holoprosencephaly-Postaxial Polydactyly Syndrome
Umbilical hernia, Intestinal malrotation, Narrow mouth, Encephalocele, Orofacial cleft, Hydroceph... ORPHA:2166
Orofaciodigital Syndrome V
Bifid uvula, Postaxial foot polydactyly, Sandal gap, Hamartoma of tongue, Ankyloglossia, Tetralog... OMIM:174300
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Sandal gap, Widely spaced te... OMIM:617102
3Mc Syndrome 3
Tessier cleft, Clinodactyly, Cleft upper lip, Preaxial polydactyly, Radioulnar synostosis, Cleft ... OMIM:248340
Gracile Bone Dysplasia
Slender long bone, Flared metaphysis, Ankyloglossia, Aniridia, Brachydactyly, Hydrocephalus, Micr... OMIM:602361
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Frontofacionasal Dysplasia
Tessier cleft, Encephalocele, Microphthalmia, Non-midline cleft of the upper lip, Cleft palate ORPHA:1791
Vacterl/Vater Association
Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Preaxial hand polyd... ORPHA:887
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Solitary median ... OMIM:602418
Phocomelia, Schinzel Type
High, narrow palate, Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the ... ORPHA:2879
Nanophthalmos
Microphthalmia ORPHA:35612
1Q21.1 Microdeletion Syndrome
Broad thumb, Toe syndactyly, Long philtrum, Ankyloglossia, Clinodactyly of the 5th finger, Talipe... ORPHA:250989
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Thick lower lip vermilion, Ventricular septal defect, Atrial septal defect, Short philtrum, Widel... OMIM:608227
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Narrow mouth, Humeroradial synostosis, Talip... OMIM:251230
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Hip contracture, Ventric... OMIM:210710
Teebi-Shaltout Syndrome
High, narrow palate, Aortic valve stenosis, Caudal appendage, Prominent palatine ridges, Narrow m... OMIM:272950
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Cofs Syndrome
Microphthalmia, Everted lower lip vermilion, Camptodactyly of finger ORPHA:1466
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Dental crowding, Polydactyly, Clinodactyly of the 5th finger, High palate, Upper limb asymmetry ORPHA:231140
Periventricular Nodular Heterotopia 7
1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2nd finger, Dental c... OMIM:617201
Nail-Patella Syndrome
Triceps aplasia, Elongated radius, Patellar hypoplasia, Cleft upper lip, Hypoplastic radial head,... OMIM:161200
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Slender finger, Broad thumb, Gastroesophageal reflux, Downturned corners of mouth, Diastema, Umbi... ORPHA:329224
Developmental Delay With Variable Neurologic And Brain Abnormalities
Widely spaced teeth, Microdontia, Down-sloping shoulders, Cubitus valgus, Microphthalmia, Camptod... OMIM:619694
Stevenson-Carey Syndrome
Joint contracture of the hand, Gastroesophageal reflux, Downturned corners of mouth, Narrow mouth... OMIM:611961
Marden-Walker Syndrome
High, narrow palate, Joint contracture of the hand, Long philtrum, Narrow mouth, Zollinger-Elliso... OMIM:248700
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida, Dysphagia OMIM:207950
Congenital Toxoplasmosis
Cardiomegaly, Hydrocephalus, Microphthalmia ORPHA:858
Holt-Oram Syndrome
Hypoplastic left heart, Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent ... ORPHA:392
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Genu valgum, Ventricular septal defect, Orofacial cleft, Brachydactyly, Hydrocephalus, Short long... OMIM:615630
Apert Syndrome
Delayed epiphyseal ossification, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Cuta... OMIM:101200
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Talipes equinovar... OMIM:609945
Chromosome 6Pter-P24 Deletion Syndrome
Dental crowding, Cleft upper lip, Umbilical hernia, Tetralogy of Fallot, Abnormal dental morpholo... OMIM:612582
Intellectual Developmental Disorder, Autosomal Dominant 72
Thin upper lip vermilion, Smooth philtrum, Broad palm, Spina bifida OMIM:620439
Joubert Syndrome 22
2-3 toe syndactyly, Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly OMIM:615665
Cohen Syndrome
Finger syndactyly, Genu valgum, Open mouth, Mitral valve prolapse, Narrow palm, Arachnodactyly, V... ORPHA:193
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep p... OMIM:605282
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Joint contracture of the hand, Micromelia, Broad long bones, Encephalocele, Bowing of the long bo... OMIM:224400
Meckel Syndrome 14
Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Postaxial polydact... OMIM:619879
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Symphalangism affecting the phalanges of the hand, Microphthalmia, Camptodactyly of finger, Duode... ORPHA:2547
Orofaciodigital Syndrome X
Finger aplasia, Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Cleft pa... OMIM:165590
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Arachnodactyly, Hand polydactyly, Transposition o... ORPHA:261243
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Cleft lip, Clinodactyly, Partial duplication of thumb phalanx, Ventricula... OMIM:616730
Orofaciodigital Syndrome I
Carious teeth, Clinodactyly, Ankyloglossia, High palate, Syndactyly, Myelomeningocele, Hamartoma ... OMIM:311200
Pai Syndrome
Bifid uvula, Encephalocele, Median cleft upper lip, Abnormal oral frenulum morphology, Cleft palate ORPHA:1993
Chromosome 3Pter-P25 Deletion Syndrome
Gastroesophageal reflux, Downturned corners of mouth, Long philtrum, Atrioventricular canal defec... OMIM:613792
Iniencephaly
Rhizomelia, Spinal dysraphism, Rocker bottom foot, Myelomeningocele, Narrow mouth, Encephalocele,... ORPHA:63259
Solitary Median Maxillary Central Incisor
Cleft upper lip, Prominent median palatal raphe, Anophthalmia, Solitary median maxillary central ... OMIM:147250
Multiple Epiphyseal Dysplasia Type 4
Radial bowing, Abnormal hand morphology, Dislocation of the femoral head, Genu valgum, Talipes eq... ORPHA:93307
Congenital Varicella Syndrome
Micromelia, Microphthalmia ORPHA:291
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Gastroesophageal reflux, Velopharyngeal insufficiency, Long philtrum, Intestinal malrotation, Tet... OMIM:614701
Ring Chromosome 10 Syndrome
Sandal gap, Long philtrum, Aganglionic megacolon, Microphthalmia, Thin vermilion border, Tapered ... ORPHA:1438
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short 5th finger, Short distal phalanx of finger, Downturned corners of mouth, Long philtrum, Thi... OMIM:220500
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Abnormality of the dentition, Conical tooth, Encephalocele, Microphthalmia, Broad philtrum ORPHA:228390
Microphthalmia, Syndromic 11
Cleft upper lip, Cleft palate, Microphthalmia OMIM:614402
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Gastroesophageal reflux, Long philtrum, Intestinal malrotation, Tetralogy... OMIM:618316
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Ventricular septal defect, Everted lower lip vermilion, Microph... OMIM:608670
Roifman Syndrome
Short toe, Downturned corners of mouth, Long philtrum, Irregular femoral epiphysis, Hip contractu... OMIM:616651
Joubert Syndrome 7
Postaxial polydactyly, Genu valgum, Encephalocele, Postaxial hand polydactyly OMIM:611560
Cat-Eye Syndrome
Microphthalmia, Anal atresia, Hip dysplasia ORPHA:195
Desbuquois Syndrome
Small hand, Elbow dislocation, Camptodactyly of finger, Ventricular septal defect, Radioulnar syn... ORPHA:1425
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Toe syndactyly, Cleft upper lip, Tetralogy of Fall... OMIM:100300
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Talipes equinovarus, Microphthalmia OMIM:616171
Li-Campeau Syndrome
Patellar hypoplasia, Long philtrum, Single transverse palmar crease, Ventricular septal defect, P... OMIM:619189
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Neu-Laxova Syndrome 2
Toe syndactyly, Finger syndactyly, Spina bifida, High palate, Rocker bottom foot, Cleft palate OMIM:616038
Oculomaxillofacial Dysostosis
Tessier cleft, Abnormality of the dentition, Camptodactyly of finger, Median cleft upper lip, Apl... ORPHA:1794
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ... OMIM:300963
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Hypoplastic left heart, Broad thumb, Gastroesophageal reflux, Prominent fingertip pads, Long phil... OMIM:619721
Nanophthalmos 4
Microphthalmia OMIM:615972
Pfeiffer Syndrome Type 2
Deviation of the thumb, Small hand, Toe syndactyly, Broad thumb, Finger syndactyly, Intestinal ma... ORPHA:93259
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia OMIM:614082
Oculodentodigital Dysplasia
Toe syndactyly, Carious teeth, Clinodactyly, Finger syndactyly, Ventricular septal defect, Short ... ORPHA:2710
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Warburg Micro Syndrome 1
Thin vermilion border, Overlapping toe, Narrow mouth, Microphthalmia OMIM:600118
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Long philtrum, Umbilical hernia, Camptodactyly of finger, Anomalous pulmonary ... ORPHA:2311
Genitopalatocardiac Syndrome
Cleft upper lip, Ventricular septal defect, Double outlet right ventricle, Transposition of the g... OMIM:231060
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Cleft lip, Clinodactyly, Partial duplication of thumb phalanx, Single tra... OMIM:618348
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Short hallux, Dislocated radial head, H... OMIM:311300
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... OMIM:274000
Meckel Syndrome
Postaxial foot polydactyly, Aplasia/Hypoplasia of the tongue, Preaxial hand polydactyly, Furrowed... ORPHA:564
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Abnormally large globe, Ventricular septal defect, Postaxial polydactyly, Atrial septal defect, H... OMIM:603387
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Ectrodactyly, Small placenta, Polydactyly, Clinodactyly of the 5th finger, Clef... ORPHA:397590
Limb-Mammary Syndrome
Bifid uvula, Joint contracture of the hand, Hypodontia, Hallux valgus, Split hand, Camptodactyly,... OMIM:603543
Robinow Syndrome, Autosomal Dominant 2
Mesomelia, Short distal phalanx of finger, Abnormality of the dentition, Broad thumb, Dental malo... OMIM:616331
Basel-Vanagaite-Smirin-Yosef Syndrome
High, narrow palate, Deviation of the 2nd finger, Clinodactyly, Finger syndactyly, Furrowed tongu... ORPHA:464738
Chromosome 17P13.1 Deletion Syndrome
High, narrow palate, Broad hallux, Umbilical hernia, Elbow flexion contracture, Long hallux, Arac... OMIM:613776
Recombinant Chromosome 8 Syndrome
Abnormality of the dentition, Joint contracture of the hand, Downturned corners of mouth, Thick l... OMIM:179613
Hadziselimovic Syndrome
Ventricular hypertrophy, Thick lower lip vermilion, Tetralogy of Fallot, Ventricular septal defec... OMIM:612946
Waardenburg Syndrome Type 1
Cleft upper lip, Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Meningocele, Cl... ORPHA:894
Trigonocephaly With Short Stature And Developmental Delay
Clinodactyly of the 5th finger, High palate, Broad alveolar ridges, Ventricular septal defect OMIM:314320
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Distal 22Q11.2 Microdeletion Syndrome
Toe syndactyly, Ankyloglossia, Narrow mouth, Ventricular septal defect, Arachnodactyly, Bowing of... ORPHA:261330
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Short distal phalanx of finger, Abnormally large globe, Short toe, Anteriorly placed anus, Downtu... OMIM:239300
Mycophenolate Mofetil Embryopathy
Tessier cleft, Ventricular septal defect, Orofacial cleft, Tracheoesophageal fistula, Hydrocephal... ORPHA:268249
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, N... OMIM:235510
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Tarsal synostosis, Patellar... OMIM:147891
Cerebrooculonasal Syndrome
Downturned corners of mouth, Long philtrum, Encephalocele, Anophthalmia, Postaxial polydactyly, S... OMIM:605627
Kury-Isidor Syndrome
Finger syndactyly, Long philtrum, Widely spaced teeth, Tented upper lip vermilion, Ventricular se... OMIM:619762
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Vacterl With Hydrocephalus
Anophthalmia, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Spina bifida, Hypopla... ORPHA:3412
Cerebrooculofacioskeletal Syndrome 4
Slender long bone, Flared metaphysis, Camptodactyly of finger, Elbow flexion contracture, Abnorma... OMIM:610758
Heart And Brain Malformation Syndrome
High, narrow palate, Hand clenching, Gastroesophageal reflux, Cleft lip, Camptodactyly of finger,... OMIM:616920
Li-Ghorbani-Weisz-Hubshman Syndrome
Downturned corners of mouth, Overlapping toe, Ventricular septal defect, Atrial septal defect, Th... OMIM:618974
Burn-Mckeown Syndrome
Bifid uvula, Cleft upper lip, Narrow mouth, Ventricular septal defect, 2-3 toe syndactyly, Atrial... OMIM:608572
Fryns Syndrome
Short distal phalanx of finger, Gastroesophageal reflux, Non-midline cleft of the upper lip, Long... ORPHA:2059
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Tetralogy of Fallot, Abnormal hip bone morphology, Abnormal lower lip morphology,... ORPHA:1166
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Overlapping toe, Ventricular septal defect, Bicuspid aortic valve, Broad phalanx, Mi... ORPHA:508498
Constricting Bands, Congenital
Tessier cleft, Cleft upper lip, Encephalocele, Talipes equinovarus, Hand polydactyly, Ectopia cor... OMIM:217100
Chromosome 13Q14 Deletion Syndrome
Umbilical hernia, Overlapping toe, Single transverse palmar crease, Ventricular septal defect, Pa... OMIM:613884
Martsolf Syndrome 1
Tooth malposition, Broad femoral neck, Short toe, Slender ulna, Cardiomyopathy, Long philtrum, Av... OMIM:212720
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Dental crowding, Sandal gap, Downturned corners of mouth, Long ph... OMIM:615761
Isotretinoin Syndrome
Spina bifida occulta, Cleft palate ORPHA:2305
Wildervanck Syndrome
Meningocele ORPHA:3456
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Fifth finger distal phalanx clinodactyly, High palate, Broad secondary alveolar ridge, Ventricula... ORPHA:3369
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Anteriorly placed anus, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Abnormal cardiac... ORPHA:1352
Acrocardiofacial Syndrome
Toe syndactyly, Finger syndactyly, Cleft upper lip, Camptodactyly of finger, Tetralogy of Fallot,... ORPHA:2008
Basel-Vanagaite-Smirin-Yosef Syndrome
Gastroesophageal reflux, Furrowed tongue, Tented upper lip vermilion, Single transverse palmar cr... OMIM:616449
Trisomy 20P
Abnormality of the dentition, Finger syndactyly, Downturned corners of mouth, Preaxial hand polyd... ORPHA:261318
Fanconi Anemia, Complementation Group S
Dental malocclusion, Clinodactyly, Thick upper lip vermilion, Macrodontia, Microphthalmia, Narrow... OMIM:617883
Mend Syndrome
Aortic valve stenosis, Asymmetry of the mouth, Broad hallux, Abnormal heart morphology, Overlappi... ORPHA:401973
Microphthalmia With Brain And Digit Anomalies
Postaxial foot polydactyly, Finger syndactyly, Anophthalmia, Microphthalmia, High palate, Proxima... ORPHA:139471
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Situs inversus totalis, Polydactyly, Brac... OMIM:615994
Mckusick-Kaufman Syndrome
Hypoplastic left heart, Postaxial foot polydactyly, Finger syndactyly, Tetralogy of Fallot, Tarsa... ORPHA:2473
Macrocephaly-Intellectual Disability-Autism Syndrome
Foot polydactyly, Intestinal polyposis, Lymphoid nodular hyperplasia, Preaxial hand polydactyly ORPHA:210548
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Femoral-Facial Syndrome
Toe syndactyly, Encephalocele, Humeroradial synostosis, Limited elbow movement, Ventricular septa... OMIM:134780
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Carious teeth, Delayed eruption of teeth, Long philtrum, Elbow fle... OMIM:214150
Neu-Laxova Syndrome 1
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Ventricular septa... OMIM:256520
Meckel Syndrome, Type 6
Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Talipes equinovarus, Hydroc... OMIM:612284
16P13.11 Microdeletion Syndrome
Gastroesophageal reflux, Cleft upper lip, Camptodactyly of finger, Metatarsus valgus, Exaggerated... ORPHA:261236
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Ventricular septal defect, Atrial septal defect, Microphthalmia, ... ORPHA:290
Mandibulofacial Dysostosis, Guion-Almeida Type
Slender finger, Preaxial hand polydactyly, Ventricular septal defect, Deep philtrum, Esophageal a... OMIM:610536
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Bilateral single transverse palmar creases, Microdontia, Subvalvular ... ORPHA:3191
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Gastroesophageal reflux, Dental crowding, Umbilical hernia, Persistence of primary teeth, Ventric... OMIM:619769
Autosomal Recessive Robinow Syndrome
Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger syndactyly, Broad thumb, Op... ORPHA:1507
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Cardiomyopathy, Hydrocephalus, Microphthalmia, Macroglossia, Optic nerve... ORPHA:370959
Yunis-Varon Syndrome
Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge, Ventricular septal d... ORPHA:3472
Retinitis Pigmentosa 89
Postaxial polydactyly, Bicuspid aortic valve, Esophageal varix OMIM:618955
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Hydrocephalus, Microphthalmia OMIM:615181
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Cleft upper lip, Stomach cancer, Cleft palate OMIM:137215
Polysyndactyly With Cardiac Malformation
Preaxial hand polydactyly, Ventricular septal defect, Duplication of phalanx of hallux, Atrial se... OMIM:263630
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Natal tooth, Ventricular septal defect, Short foot, Holoprosencephaly, Shor... OMIM:269860
Insulin-Like Growth Factor I, Resistance To
Small hand, Clinodactyly, Sandal gap, Short finger, Radial deviation of finger, Long philtrum, Ri... OMIM:270450
Houge-Janssens Syndrome 2
Broad hallux, Deviation of the 5th finger, Open mouth, Tented upper lip vermilion, Postaxial poly... OMIM:616362
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Bilateral cleft palate ORPHA:1473
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Long philtrum, Cleft upper lip, Thin upper lip vermilion, Bicuspid aortic ... OMIM:243310
Jansen-De Vries Syndrome
Small hand, Gastroesophageal reflux, Ventricular septal defect, Thin upper lip vermilion, Bicuspi... OMIM:617450
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Abnormal metacarpal morphology, Hypo... ORPHA:1452
Adams-Oliver Syndrome 2
Absent distal phalanges, Single transverse palmar crease, Hydrocephalus, Microphthalmia, Short mi... OMIM:614219
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Velopharyngeal insufficiency, Clinodactyly of the 2nd finger, Ventricular septal defect, Atrial s... OMIM:620663
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hydrocephalus, Microphthalmia OMIM:601794
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Holt-Oram Syndrome
Short forearm, Hypoplastic scapulae, Radial bowing, Elbow dislocation, Cleft soft palate, Ulnar d... OMIM:142900
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Preaxial foot polydactyly, Median cleft palate, Mirror image foot polydactyl... OMIM:119800
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Short distal phalanx of finger, Bilateral single transverse palmar creases, ... ORPHA:2516
Adams-Oliver Syndrome 6
Foot oligodactyly, Ventricular septal defect, Truncus arteriosus, Brachydactyly, Esophageal varix... OMIM:616589
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Gastroesophageal reflux, Clinodactyly, Downturned corners of mouth, Thick upper lip vermilion, Na... OMIM:617360
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Unilateral cleft lip, Bilateral microphtha... OMIM:610828
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hypoplastic ilia, Micromelia, Broad long bones, Clubbing of fingers, Abnormal heart morphology, N... ORPHA:1865
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Dental malocclusion, Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly, P... OMIM:618727
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Cleft lip, Prominent fingertip pads, Joint contracture of the 5th finger, Single transverse palma... OMIM:620098
Baraitser-Winter Syndrome 2
Long philtrum, Thin upper lip vermilion, Orofacial cleft, Microphthalmia, Wide mouth OMIM:614583
Seckel Syndrome 2
Microphthalmia, Clinodactyly of the 5th finger, Microglossia, Microdontia OMIM:606744
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Temtamy Syndrome
Dental crowding, Long philtrum, Talipes equinovarus, Brachydactyly, Microphthalmia, Short 2nd toe... OMIM:218340
Microphthalmia, Syndromic 13
Widely-spaced incisors, Microphthalmia OMIM:300915
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Dental crowding, Sandal gap, Long philtrum, Thick vermilion border, Single transverse palmar crea... OMIM:617061
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Cranium bifidum occultum, Finger clinodactyly, Camptodactyly of finger, Tetralogy ... ORPHA:306542
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Hydrocephalus, Microphthalmia OMIM:613153
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Natal tooth, Large placenta, B... OMIM:249000
Developmental And Epileptic Encephalopathy 66
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te... OMIM:618067
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Sma... OMIM:257850
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Clinodactyly of the 2nd finger, Micromelia, Long philtrum, Monkey wrench femoral neck, Genu valgu... OMIM:618870
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Tetralogy of Fallot, Foot polydactyly, Median cleft upper lip, Aplasia/Hypoplasia of the thumb, O... ORPHA:3186
Hydrolethalus Syndrome 1
Preaxial hand polydactyly, Upper limb undergrowth, Complete atrioventricular canal defect, Ventri... OMIM:236680
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Broad hallux, Long philtrum, Tented upper lip vermilion, Single transverse palmar crease, High pa... OMIM:614105
Cooper-Jabs Syndrome
Anteriorly placed anus, Camptodactyly of finger, Umbilical hernia, Abnormal hip bone morphology, ... ORPHA:1488
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect, 2-3 toe syndactyly, Talipes equinovarus, Short ph... ORPHA:3306
Microphthalmia, Syndromic 2
Aortic valve stenosis, Hand clenching, Anophthalmia, Mitral valve prolapse, Contracture of the pr... OMIM:300166
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol... OMIM:615986
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Clinodactyly, Genu valgum, Polydactyly, Triangular mouth, Flattened epiphys... OMIM:607131
Distal Deletion 19P
Umbilical hernia, Ventricular septal defect, Arachnodactyly, Tricuspid valve prolapse, Long toe, ... ORPHA:96129
Woods Syndrome
Limited elbow extension, Single transverse palmar crease, Ventricular septal defect, Thin vermili... OMIM:615236
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula... ORPHA:84
Chromosome 9P Deletion Syndrome
High, narrow palate, Sandal gap, Long philtrum, Dermatoglyphic variants, Narrow mouth, Ventricula... OMIM:158170
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
C Syndrome
Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micromelia, ... OMIM:211750
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r... ORPHA:959
Oculodentodigital Dysplasia
Broad alveolar ridges, Carious teeth, Clinodactyly, Selective tooth agenesis, Cleft upper lip, 3-... OMIM:164200
Syngap1-Related Developmental And Epileptic Encephalopathy
Narrow mouth, Postaxial polydactyly, Thin vermilion border, High palate, Wide mouth ORPHA:544254
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Mesomelia, Polysyndactyly of hallux, Microglossia, Postaxial polysyndactyly of foot, Preaxial han... OMIM:263520
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Oral-pharyngeal dysphagia, Palate fistula, Peg... ORPHA:199306
Holoprosencephaly-Caudal Dysgenesis Syndrome
Radial club hand, Median cleft upper lip, Abnormal morphology of the radius, Holoprosencephaly, C... ORPHA:2165
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cleft upper lip, Encephalocele, Buphthalmos, Hydrocephalus, Microphthalmia, Macroglossia, Cleft p... OMIM:613150
Congenital Fibrinogen Deficiency
Gingival bleeding, Volvulus, Left ventricular hypertrophy, Microphthalmia, Right ventricular hype... ORPHA:335
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
3Q29 Microdeletion Syndrome
Abnormality of the dentition, Gastroesophageal reflux, Dental crowding, Short philtrum, Orofacial... ORPHA:65286
Cloacal Exstrophy
Intestinal duplication, Myelomeningocele, Intestinal malrotation, Abnormal tibia morphology, Tali... ORPHA:93929
Fetal Alcohol Syndrome
Microdontia, Thin upper lip vermilion, Smooth philtrum, Atrial septal defect, Microphthalmia, Non... ORPHA:1915
Frontonasal Dysplasia 3
Tessier cleft, Cleft palate, Microphthalmia OMIM:613456
Cardiofacioneurodevelopmental Syndrome
Cleft lip, Abdominal situs inversus, Atrioventricular canal defect, Ventricular septal defect, Pu... OMIM:619123
Tarp Syndrome
Rocker bottom foot, Meckel diverticulum, Clinodactyly, Tetralogy of Fallot, Single transverse pal... OMIM:311900
Holoprosencephaly
Anophthalmia, Encephalocele, Ventricular septal defect, Microphthalmia, Holoprosencephaly, Gastro... ORPHA:2162
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Natal tooth, Fibular aplasia, Ventricular septal defect, Arachnoda... OMIM:300373
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Ritscher-Schinzel Syndrome 3
Short 1st metacarpal, Atrioventricular canal defect, Short first metatarsal, Epiphyseal stippling... OMIM:619135
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Noonan Syndrome 12
Tetralogy of Fallot, Proximal placement of thumb, Anteriorly placed anus, Ventricular septal defect OMIM:618624
Bardet-Biedl Syndrome 8
Postaxial polydactyly, Situs inversus totalis OMIM:615985
Catel-Manzke Syndrome
Ulnar deviation of the 2nd finger, Genu valgum, Narrow mouth, Ventricular septal defect, Talipes ... OMIM:616145
Weill-Marchesani Syndrome
Aortic valve stenosis, Short thumb, Ventricular septal defect, Brachydactyly, Pulmonic stenosis ORPHA:3449
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Anal atresia, Syndactyly, Prominent fin... OMIM:305450
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Broad thumb, Toe syndactyly, Long philtrum, Overlapping toe, Ventricular septal defect, Arachnoda... ORPHA:505237
Congenital Sialidosis Type 2
Umbilical hernia, Abnormal heart morphology, Gingival overgrowth, Protruding tongue, Polydactyly,... ORPHA:93400
Focal Dermal Hypoplasia
Toe syndactyly, Anophthalmia, Microphthalmia, Foot polydactyly, Short metacarpal, Myelomeningocel... OMIM:305600
Conotruncal Heart Malformations
Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ... OMIM:217095
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Tetralogy of Fallot, Fibular aplasia, Aplasia/hyp... ORPHA:3320
Joubert Syndrome 39
Postaxial polydactyly, Hypoplastic left heart, Occipital encephalocele, Joint contracture of the ... OMIM:619562
Acrofacial Dysostosis 1, Nager Type
Toe syndactyly, Velopharyngeal insufficiency, Clinodactyly, Overlapping toe, Ventricular septal d... OMIM:154400
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cleft lip, Downturned corners of mouth, Long philtrum, Abnormal heart morphology, Overlapping toe... OMIM:618571
Contractural Arachnodactyly, Congenital
Ulnar deviation of finger, Elbow flexion contracture, Limited elbow extension, Hip contracture, M... OMIM:121050
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Meningocele, Glossoptosis ORPHA:2031
Fanconi Anemia, Complementation Group J
Short thumb, Microphthalmia OMIM:609054
20P13 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Tented upper lip vermilion, Polydactyly, Thin upper lip vermilio... ORPHA:313781
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Micromelia, Long philtrum, Ventricular septal defect, Postaxial polydactyly, Br... OMIM:617895
Lateral Meningocele Syndrome
Dental crowding, Long philtrum, Umbilical hernia, Ventricular septal defect, Bicuspid aortic valv... OMIM:130720
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Short 5th finger, Umbilical hernia, Abnormal heart morphology, Open mouth, Patent foramen ovale, ... ORPHA:500159
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Tatton-Brown-Rahman Syndrome
Everted upper lip vermilion, Umbilical hernia, Exaggerated cupid's bow, Ventricular septal defect... OMIM:615879
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Transposition of ... ORPHA:1209
Emanuel Syndrome
Aortic valve stenosis, Congenital hip dislocation, Gastroesophageal reflux, Dental crowding, Long... OMIM:609029
Multiple Benign Circumferential Skin Creases On Limbs
Long philtrum, Umbilical hernia, Microphthalmia, Cleft palate, Upper limb asymmetry ORPHA:2505
Thalidomide Embryopathy
Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi... ORPHA:3312
Coffin-Siris Syndrome 7
Downturned corners of mouth, Thick lower lip vermilion, Patent foramen ovale, Ventricular septal ... OMIM:618027
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
19P13.3 Microduplication Syndrome
Gastroesophageal reflux, Clinodactyly, Thick vermilion border, Narrow mouth, Ventricular septal d... ORPHA:447980
Lateral Meningocele Syndrome
High, narrow palate, Dental crowding, Umbilical hernia, Ventricular septal defect, Smooth philtru... ORPHA:2789
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Abnormal epiphysis morphology, Metaphyseal spurs, ... ORPHA:85167
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Gastroesophageal reflux, Alobar holoprosencephaly, Semilobar holoprosence... OMIM:301043
Ohdo Syndrome, X-Linked
Clinodactyly, Short thumb, Long philtrum, Widely spaced teeth, Overlapping toe, Narrow mouth, Lon... OMIM:300895
Genitopalatocardiac Syndrome
Downturned corners of mouth, Brachydactyly, Abnormal cardiac septum morphology, Hydrocephalus, Po... ORPHA:2075
Walker-Warburg Syndrome
Bifid uvula, Metatarsus valgus, Submucous cleft hard palate, Anophthalmia, Hydrocephalus, Microph... ORPHA:899
Chromosome 5Q12 Deletion Syndrome
Long philtrum, Patent foramen ovale, Ventricular septal defect, Long toe, Atrial septal defect, L... OMIM:615668
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Ankyloglossia, Unilateral microphthalmos, Mitral valve prolapse, Bilateral cleft palate, Thin upp... OMIM:618874
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the pelvis, Narrow mouth, Orofacial cleft, Hydrocephalus, Microphtha... ORPHA:3301
Myoclonic-Astatic Epilepsy
Long philtrum, Thick lower lip vermilion, Thin upper lip vermilion, Microphthalmia, Broad philtru... ORPHA:1942
Spondylo-Ocular Syndrome
Long philtrum, Ventricular septal defect, Aplasia/Hypoplasia of the lens, Microphthalmia, Thin ve... ORPHA:85194
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Finger joint contracture, Flexion contracture of toe ORPHA:48431
Holoprosencephaly 9
Alobar holoprosencephaly, Dental malocclusion, Downturned corners of mouth, Cleft upper lip, Thic... OMIM:610829
Kapur-Toriello Syndrome
Intestinal malrotation, Tetralogy of Fallot, Ventricular septal defect, Orofacial cleft, Micropht... ORPHA:2328
Osteoporosis-Pseudoglioma Syndrome
Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metaphyseal widening,... ORPHA:2788
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Patellar aplasia, Bilateral single transverse palm... ORPHA:3103
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Small hand, Broad thumb, Narrow mouth, Ventricular septal defect, Talipes equinovarus, Bilateral ... ORPHA:251028
Ulnar-Mammary Syndrome
Short distal phalanx of finger, Camptodactyly of finger, Abnormality of the wrist, Absent hand, P... ORPHA:3138
Megabladder, Congenital
Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr... OMIM:618719
Joubert Syndrome 2
Postaxial foot polydactyly, Encephalocele, Hydrocephalus, Postaxial hand polydactyly, Microphthal... OMIM:608091
Emanuel Syndrome
Aortic valve stenosis, Bifid uvula, Congenital hip dislocation, Gastroesophageal reflux, Tooth ma... ORPHA:96170
Johnson Neuroectodermal Syndrome
Carious teeth, Preaxial hand polydactyly, Tetralogy of Fallot, Hand polydactyly, Everted lower li... ORPHA:2316
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Widely spaced teeth, Microdontia, Abnormal palmar dermatoglyphics, Atrial septal defect, Micropht... ORPHA:2728
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Clinodactyly, Patent foramen ovale, Ventricular septal defect, Br... OMIM:614261
Amish Lethal Microcephaly
Cleft soft palate, Spina bifida ORPHA:99742
Septooptic Dysplasia
Polydactyly, Optic nerve hypoplasia, Optic disc hypoplasia, Short finger OMIM:182230
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Ventricular septal defect, Postaxial polydactyly, Enamel hyp... OMIM:614576
Fanconi Anemia, Complementation Group I
Absent thumb, Short thumb, Short 1st metacarpal, Patent foramen ovale, Ventricular septal defect,... OMIM:609053
Grange Syndrome
Ventricular septal defect, Short palm, Syndactyly ORPHA:79094
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Small hand, Toe syndactyly, Limited elbow movement, Ventricular septal defect, Bicuspid aortic va... OMIM:610759
Short Stature-Micrognathia Syndrome
Rhizomelia, Gastroesophageal reflux, Broad femoral neck, Ventricular septal defect, 2-3 toe synda... OMIM:617164
Joubert Syndrome 37
Postaxial polydactyly, High palate, Microphthalmia OMIM:619185
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Shortening of all phalanges... OMIM:114290
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Aplasia of the distal phalanx of the 5th toe, Microglossia, Tented upper l... ORPHA:364577
Monosomy 9Q22.3
Palmar pits, Delayed eruption of teeth, Long philtrum, Umbilical hernia, Narrow mouth, Cardiac fi... ORPHA:77301
Pfeiffer Syndrome Type 3
Small hand, Toe syndactyly, Broad thumb, Finger syndactyly, Intestinal malrotation, Hallux varus,... ORPHA:93260
Linear Skin Defects With Multiple Congenital Anomalies 1
Anteriorly placed anus, Colonic atresia, Single transverse palmar crease, Ventricular septal defe... OMIM:309801
Ellis Van Creveld Syndrome
Synostosis of carpal bones, Genu valgum, Ventricular septal defect, Atrial septal defect, Dextroc... ORPHA:289
Townes-Brocks Syndrome 1
Broad thumb, Pseudoepiphyses of second metacarpal, Ventricular septal defect, Atrial septal defec... OMIM:107480
Delpire-Mcneill Syndrome
Tracheoesophageal fistula, Dysphagia, Hip dislocation, Ventricular septal defect OMIM:619083
Orofaciodigital Syndrome Type 1
Finger syndactyly, Open bite, Foot polydactyly, Tarsal synostosis, High palate, Accessory oral fr... ORPHA:2750
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Rectal abscess, Bilateral talipes equinovarus, Men... OMIM:600145
Acromelic Frontonasal Dysostosis
Optic nerve hypoplasia, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Cleft upper ... OMIM:603671
Tyshchenko Syndrome
High, narrow palate, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, High pal... OMIM:615102
Fanconi Anemia, Complementation Group B
Bilateral radial aplasia, Absent thumb, Optic disc hypoplasia, Ventricular septal defect, Tracheo... OMIM:300514
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Anal atresia, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Broad thumb, Long philtrum, Overlapping toe, Down-sloping shoulders, Ventricular septal defect, T... OMIM:617452
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, High palate, Single transverse palmar crease, Microphthalmia OMIM:619053
Frontometaphyseal Dysplasia
Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Limited elbow move... ORPHA:1826
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Carious teeth, Xerostomia, Delayed eruption of primary teeth, Abs... OMIM:149730
Hallermann-Streiff Syndrome
High, narrow palate, Natal tooth, Slender long bone, Dental malocclusion, Selective tooth agenesi... OMIM:234100
Treacher-Collins Syndrome
Tessier cleft, Abnormality of the dentition, Branchial fistula, Cleft upper lip, Tooth agenesis, ... ORPHA:861
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Cleft palate, Ventricular septal defect OMIM:214300
Jacobsen Syndrome
Toe clinodactyly, Aortic valve stenosis, Hip dislocation, Toe syndactyly, Hypoplastic left heart,... ORPHA:2308
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Narrow mouth, Talipes equinovarus, Short hallux, Small thenar eminence, High palate,... OMIM:268305
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Encephalocele, Transposition of the great arteries, Hydrocephalus, Atrial... OMIM:253800
Bohring-Opitz Syndrome
Broad alveolar ridges, Gastroesophageal reflux, Short toe, Cleft upper lip, Dislocated radial hea... OMIM:605039
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Bifid uvula, Toe syndactyly, Downturned corners of mouth, Absence of the p... OMIM:601808
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Dysphagia, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616276
Nance-Horan Syndrome
Abnormality of the dentition, Supernumerary tooth, Short metacarpal, Microphthalmia ORPHA:627
Hand-Foot-Genital Syndrome
Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Synostosis of ... ORPHA:2438
Opitz Gbbb Syndrome
Gastroesophageal reflux, Unilateral cleft lip, Cleft upper lip, Umbilical hernia, Rectourethral f... OMIM:300000
8Q21.11 Microdeletion Syndrome
Abnormality of the dentition, Finger syndactyly, Downturned corners of mouth, Camptodactyly of fi... ORPHA:284160
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Ventricular septal defect OMIM:613730
Short Stature And Facioauriculothoracic Malformations
High palate, Cleft upper lip, Cleft palate, Ventricular septal defect OMIM:609654
Meier-Gorlin Syndrome 7
Anal stenosis, Anteriorly placed anus, Duodenal stenosis, Dislocated radial head, Preaxial hand p... OMIM:617063
ERI1-related disease
Velopharyngeal insufficiency, Dislocated radial head, Slender metacarpals, Oligodactyly, Abnormal... OMIM:608739
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul... OMIM:607941
Duane Retraction Syndrome
Optic disc hypoplasia, Preaxial hand polydactyly, Aniridia, Talipes equinovarus, Aplasia/Hypoplas... ORPHA:233
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Bilateral single transverse palmar creases, Ventricular septal defect, Trans... ORPHA:1913
3Mc Syndrome 1
Short 5th finger, Cleft lip, Caudal appendage, Dental crowding, Cleft upper lip, Clinodactyly of ... OMIM:257920
Diamond-Blackfan Anemia 21
Secundum atrial septal defect, Short toe, Sandal gap, Preaxial hand polydactyly, Genu valgum, Nar... OMIM:620072
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Atrial septal defect, Cleft palate, Preaxial hand polydactyly ORPHA:79113
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Hydrocephalus, Pyloric stenosis OMIM:218350
Nephronophthisis 15
Polydactyly OMIM:614845
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Toe syndactyly, Intestinal malrotation, Dextrotransposi... OMIM:619657
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Rhizomelia, Metaphyseal cupping, Dental malocclusion, Flared metaphysis, Short finger, Femoral bo... OMIM:608940
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Abnormal tongue morphology, Abnormal heart morphology, Polydactyly, ... ORPHA:531151
Frank-Ter Haar Syndrome
Mitral valve prolapse, Ventricular septal defect, Bowing of the long bones, Talipes equinovarus, ... OMIM:249420
Mosaic Trisomy 16
Short forearm, Meckel diverticulum, Clinodactyly, Anteriorly placed anus, Short thumb, Abnormal h... ORPHA:1708
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Ventricular septal defect, Aganglionic megacolon, Atrial... OMIM:613870
Lathosterolosis
Toe syndactyly, Postaxial foot polydactyly, Downturned corners of mouth, Long philtrum, Gingival ... ORPHA:46059
Larsen Syndrome
Elbow dislocation, Cleft upper lip, Accessory carpal bones, Ventricular septal defect, Multiple c... OMIM:150250
Jacobsen Syndrome
Ventricular septal defect, Macular hypoplasia, Brachydactyly, Hydrocephalus, Atrial septal defect... OMIM:147791
Warsaw Breakage Syndrome
Tetralogy of Fallot, Single transverse palmar crease, Ventricular septal defect, 2-3 toe syndacty... OMIM:613398
Chromosome 8Q21.11 Deletion Syndrome
Downturned corners of mouth, Exaggerated cupid's bow, Short philtrum, Short metacarpal, Microphth... OMIM:614230
Skraban-Deardorff Syndrome
Widely spaced teeth, Thick upper lip vermilion, Absent cupid's bow, Ventricular septal defect, Cl... OMIM:617616
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Broad hallux, Wide pubi... OMIM:620073
Down Syndrome
Narrow mouth, Protruding tongue, Bilateral single transverse palmar creases, Ventricular septal d... ORPHA:870
Thoracoabdominal Syndrome
Cleft upper lip, Transposition of the great arteries, Hydrocephalus, Ectopia cordis, Anencephaly,... OMIM:313850
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Finger syndactyly, Aplasia of the proximal phalanges of the hand, Ventricular septal defect, Hypo... ORPHA:2256
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Bifid uvula, Small hand, Long philtrum, Thin upper lip vermilion, Microphthalmia, Thin vermilion ... OMIM:241410
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Aplasia/Hypopla... ORPHA:989
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Ventricular septal defect, Subvalvular aortic stenosis, Atrial septal def... OMIM:613001
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Nance-Horan Syndrome
Diastema, Supernumerary maxillary incisor, Mulberry molar, Microphthalmia, Short phalanx of finge... OMIM:302350
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Situs inversus totalis, Narrow mouth, Microphthalmia OMIM:614833
Joubert Syndrome 40
Postaxial polydactyly, Optic nerve hypoplasia OMIM:619582
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Dental crowding, Sandal gap, Downturned corners of mouth, Intestinal malrotation, ... OMIM:617602
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Unilateral cleft lip, Flared metaphysis, Decreased fibular diameter, Hypertrophic cardiomyopathy,... OMIM:616897
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Abnormality of the dentition, Long philtrum, Ventricular septal defect, Smooth philtrum, Atrial s... ORPHA:261190
Spondylocostal Dysostosis 4, Autosomal Recessive
Anal stenosis, Myelomeningocele, Situs inversus totalis, Ectopic anus, Hydrocephalus, Dextrocardi... OMIM:613686
Donnai-Barrow Syndrome
Intestinal malrotation, Ventricular septal defect, Umbilical hernia ORPHA:2143
19P13.12 Microdeletion Syndrome
Toe clinodactyly, Sandal gap, Finger syndactyly, Long philtrum, Ventricular septal defect, Hypodo... ORPHA:254346
Global Developmental Delay With Or Without Impaired Intellectual Development
Thin upper lip vermilion, Oligodontia, Atrial septal defect, Ventricular septal defect OMIM:618330
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Cleft lip, Clinodactyly, Biventricular hypertrophy, Coronary artery fistu... OMIM:619343
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Robinow Syndrome, Autosomal Dominant 3
Mesomelia, Broad thumb, Cleft lip, Clinodactyly, Anteriorly placed anus, Downturned corners of mo... OMIM:616894
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Ventriculomegaly With Cystic Kidney Disease
Postaxial polydactyly, Hydrocephalus, Ventricular septal defect OMIM:219730
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... OMIM:304120
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Broad metacarpals, Tooth malposition, Broad phalanges of the hand, Microsp... OMIM:608328
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Talipes equinovarus, Ventricular septal defect OMIM:209770
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bifid uvula, Gastroesophageal reflux, Downturned corners of mouth, Abnormal heart morphology, Fur... ORPHA:453499
Ivic Syndrome
Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Radioulnar... ORPHA:2307
Lethal Congenital Contracture Syndrome 10
Long philtrum, Overlapping fingers, Femoral bowing, Ventricular septal defect, Cardiomegaly, Tali... OMIM:617022
Mend Syndrome
Aortic valve stenosis, Broad hallux, Overlapping fingers, Overlapping toe, Polydactyly, 2-3 toe s... OMIM:300960
Recombinant 8 Syndrome
Abnormality of the dentition, Downturned corners of mouth, Cleft upper lip, Camptodactyly of fing... ORPHA:96167
Atelis Syndrome 1
Carious teeth, Long philtrum, Ventricular septal defect, Atrial septal defect, High palate OMIM:620184
Double Outlet Right Ventricle
Hypoplastic left heart, Intestinal malrotation, Tetralogy of Fallot, Narrow mouth, Heterotaxy, Su... ORPHA:3426
Fryns Syndrome
Joint contracture of the hand, Ventricular septal defect, Atrial septal defect, Microphthalmia, A... OMIM:229850
Rere-Related Neurodevelopmental Syndrome
Gastroesophageal reflux, Abnormal heart morphology, Ventricular septal defect, Hip dysplasia, Mic... ORPHA:494344
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Open mouth, Ventricular septal defect, Arachnodactyly, Talipes equinovarus, Atrial septal defect,... OMIM:301039
Codas Syndrome
Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology... ORPHA:1458
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect, Hydrocephalus, Cleft palate OMIM:243440
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Garg-Mishra Progeroid Syndrome
Dental crowding, Slender long bone, Slender metacarpals, Microphthalmia, Broad palm, Coxa valga OMIM:620601
Prune Belly Syndrome
Congenital hip dislocation, Volvulus, Intestinal malrotation, Tetralogy of Fallot, Ventricular se... ORPHA:2970
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Waardenburg Syndrome
Abnormal lip morphology, Myelomeningocele, Intestinal obstruction, Aganglionic megacolon, Orofaci... ORPHA:3440
Branchio-Oculo-Facial Syndrome
Upper lip pit, Preaxial hand polydactyly, Tooth agenesis, Microdontia, Orofacial cleft, Deep phil... ORPHA:1297
Rubinstein-Taybi Syndrome 1
Broad thumb, Hypoplastic iliac wing, Narrow mouth, Mitral valve prolapse, Ventricular septal defe... OMIM:180849
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Long philtrum, Abnor... ORPHA:363705
Robinow Syndrome
Tooth malposition, Ankyloglossia, Marked delay in eruption of permanent teeth, Ventricular septal... ORPHA:97360
Myhre Syndrome
Aortic valve stenosis, Clinodactyly, Hypoplastic iliac wing, Overlapping toe, Narrow mouth, Ventr... OMIM:139210
Joubert Syndrome 27
Thick lower lip vermilion, Polydactyly OMIM:617120
Loeys-Dietz Syndrome 5
Bifid uvula, Cleft soft palate, Tented upper lip vermilion, Patent foramen ovale, Ventricular sep... OMIM:615582
Microphthalmia, Lenz Type
Abnormality of the dentition, Finger syndactyly, Delayed eruption of teeth, Camptodactyly of fing... ORPHA:568
Pseudoaminopterin Syndrome
Slender finger, Synostosis of carpal bones, Hip subluxation, Short thumb, Overlapping toe, Clinod... ORPHA:221120
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Ventricular septal defect, T... OMIM:271640
Fanconi Anemia, Complementation Group L
Absent thumb, Microphthalmia, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Absen... OMIM:614083
Acrofrontofacionasal Dysostosis 1
Short distal phalanx of finger, Broad thumb, Cleft upper lip, Acetabular dysplasia, Oligodontia, ... OMIM:201180
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Gastroesophageal reflux, Clinodactyly, Radial deviation of finger, Umbilical hernia, Diastema, Th... OMIM:301040
Incontinentia Pigmenti
Deviation of finger, Finger syndactyly, Delayed eruption of teeth, Umbilical hernia, Camptodactyl... ORPHA:464
Skin Creases, Congenital Symmetric Circumferential, 1
Long philtrum, Narrow mouth, Long fingers, Microphthalmia, High palate, Cleft palate OMIM:156610
Hypotonia, Infantile, With Psychomotor Retardation
Open mouth, Ventricular septal defect OMIM:616816
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Sandal gap, Long philtrum, Abnormal heart morphology, Patent foramen ovale, Ventricular septal de... ORPHA:477817
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Gastroesophageal reflux, Downturned corners of mouth, Intestinal malrotation, Ventricular septal ... ORPHA:457193
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Megarectum, Postaxial foot polydactyly, Overlapping fingers, Ventricular septal defect, Talipes e... OMIM:301056
Au-Kline Syndrome
Bifid uvula, Gastroesophageal reflux, Dental malocclusion, Downturned corners of mouth, Overlappi... OMIM:616580
22Q11.2 Deletion Syndrome
Carious teeth, Narrow mouth, Ventricular septal defect, Arachnodactyly, Talipes equinovarus, Atri... ORPHA:567
Filippi Syndrome
Finger syndactyly, Bilateral single transverse palmar creases, Ventricular septal defect, Clinoda... ORPHA:3255
Fanconi Anemia, Complementation Group D2
Absent thumb, Short thumb, Preaxial hand polydactyly, Abnormal heart morphology, Partial duplicat... OMIM:227646
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Open bite, Open mouth, Ventricul... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Open bite, Open mouth, Ventricul... ORPHA:352665
Fanconi Anemia, Complementation Group N
Absent thumb, Short thumb, Ventricular septal defect, Hypoplasia of the radius, Atrial septal def... OMIM:610832
Frontonasal Dysplasia 2
Conical tooth, Widely spaced teeth, Tessier number 13 facial cleft, Encephalocele, Microphthalmia... OMIM:613451
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Finger syndactyly, Ventricular septal defect, Abnormal metacarpal mor... ORPHA:818
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Perineal fistula, Rectal atresia, Anal atresi... ORPHA:2753
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Single transverse palmar crease, Ventricular septal de... OMIM:618619
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u... ORPHA:2563
Radio-Tartaglia Syndrome
High, narrow palate, Gastroesophageal reflux, Dental crowding, Long philtrum, Wide mouth, Ventric... OMIM:619312
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Small hand, Clinodactyly, Ventricular septal defect, Atrial septal defect, Short foot, Gastroesop... OMIM:301044
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Volvulus, Duodenal stenosis, Intestinal malrotatio... ORPHA:210122
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Cleft upper lip, Hydrocephalus, Microphthalmia, Buphthalmos, Anal atresi... OMIM:236670
Trichothiodystrophy 3, Photosensitive
Carious teeth, Natal tooth, Meckel diverticulum, Microphthalmia, Eclabion, Pyloric stenosis OMIM:616395
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Thin upper li... OMIM:601005
Developmental And Epileptic Encephalopathy 1
Dysphagia, Microphthalmia OMIM:308350
Mosaic Variegated Aneuploidy Syndrome
Stomach cancer, Intestinal polyposis, Subvalvular aortic stenosis, Abnormality of the upper limb,... ORPHA:1052
Yuan-Harel-Lupski Syndrome
Sandal gap, Long philtrum, Ventricular septal defect, Thin upper lip vermilion, Bicuspid aortic v... OMIM:616652
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Broad thumb, Dental crowding, Open mouth, Ventricular septal defect, Arachnodactyly, Thin upper l... OMIM:309520
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Talipes equinovarus, Anal atresia, Preaxial hand polydactyly OMIM:601389
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypoplastic ischia, Polydactyly OMIM:616910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Hydrocephalus, Microphthalmia OMIM:615249
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Koolen-De Vries Syndrome
Slender finger, Prominent fingertip pads, Cleft upper lip, Widely spaced teeth, Open mouth, Narro... OMIM:610443
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... ORPHA:508533
Wolf-Hirschhorn Syndrome
Ventricular septal defect, Talipes equinovarus, Radioulnar synostosis, Short hallux, Atrial septa... OMIM:194190
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Hydrocephalus, Cleft palate ORPHA:2736
Right Atrial Isomerism
Total anomalous pulmonary venous return, Tetralogy of Fallot, Abdominal situs ambiguus, Situs inv... OMIM:208530
Joubert Syndrome
Situs inversus totalis, Encephalocele, Aganglionic megacolon, Hand polydactyly, Orofacial cleft, ... ORPHA:475
Left Ventricular Noncompaction 1
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... OMIM:604169
Van Esch-O'Driscoll Syndrome
Bifid uvula, Downturned corners of mouth, Clinodactyly of the 5th finger, Ventricular septal defe... OMIM:301030
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital hip dislocation, Long philtrum, Abnormal heart morphology, Submucous cleft hard palate... ORPHA:457279
Tarp Syndrome
Rocker bottom foot, Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Tetralogy of ... ORPHA:2886
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Gastroesophageal reflux, Occipital encephalocele, Cone-shaped epiphysis, Rhizomelic arm shortenin... ORPHA:397715
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Ventricular septal defect, Open mouth, Umbilical hernia OMIM:617751
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Hypoplastic iliac wing, Talipes equinovarus, Absent radius, Microphthalmia,... OMIM:263650
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Tooth malposition, Microspherophakia, Broad phalanges of the hand, Abnorma... OMIM:277600
Intellectual Developmental Disorder, Autosomal Recessive 71
Increased overbite, Abnormally large globe, Ventricular septal defect OMIM:618504
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, El... OMIM:276820
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Cleft palate, Ventricular septal defect OMIM:620210
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Ventricular hypertrophy, Elbow dislocation, Genu valgum, Bilateral single ... OMIM:143095
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Patent foramen ovale, Ventricular septal defect, Clinodactyly of the 5th toe, Short sternum, Smoo... OMIM:620113
Chime Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplastic clavicle, Abnormal ep... ORPHA:3474
Waardenburg Syndrome, Type 1
Myelomeningocele, Smooth philtrum, Orofacial cleft, Spina bifida, Hypoplastic iris stroma OMIM:193500
Down Syndrome
Shallow acetabular fossae, Clinodactyly, Hypoplastic iliac wing, Protruding tongue, Ventricular s... OMIM:190685
Cornelia De Lange Syndrome 1
Ventricular septal defect, Dislocated radial head, High palate, High, narrow palate, Gastroesopha... OMIM:122470
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Bifid uvula, Small hand, Abnormality of the dentition, Long philtrum, Postaxial polydactyly, Smoo... OMIM:300968
Pallister-Hall Syndrome
Toe syndactyly, Broad thumb, Radial bowing, Natal tooth, Polydactyly affecting the 4th finger, Ov... ORPHA:672
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Abnormal heart morphology, Absent cupid's bow, Ventricular septal defect... ORPHA:284169
Intellectual Developmental Disorder, X-Linked, Syndromic 35
2-3 toe cutaneous syndactyly, Gastroesophageal reflux, Cutaneous syndactyly of toes, Contracture ... OMIM:300998
Costello Syndrome
Abnormality of the dentition, Ulnar deviation of finger, Gastroesophageal reflux, Thick lower lip... ORPHA:3071
Frontofacionasal Dysplasia
Bifid uvula, Cranium bifidum occultum, Cleft upper lip, Orofacial cleft, Microphthalmia OMIM:229400
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Secundum atrial septal defect, Short thumb, Tetralogy of Fallot, Esoph... OMIM:612562
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Brachydactyly, Short long bone OMIM:615633
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Long philtrum, Thick lower lip vermilion, Thin upper lip vermilion, Deep philtrum, Microphthalmia OMIM:152950
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Optic nerve hypoplasia, Long philtrum, Wide mouth, Thick vermilion border... ORPHA:261250
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Palmoplantar keratoderma, Finger syndactyly, Delayed eruption of teeth, Widely spa... ORPHA:1071
Trisomy X
Clinodactyly of the 5th finger, Ventricular septal defect, Atrial septal defect, Hip dysplasia ORPHA:3375
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Tessier cleft, Broad thumb, Lip pit, Camptodactyly of finger, Bilateral single transverse palmar ... ORPHA:1236
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Rocker bottom foot, Camptodactyly of finger OMIM:610756
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Hydrocephalus, Adducted thumb, Microphthalmia, Optic nerve hypoplasia OMIM:614643
Atelis Syndrome 2
Gastroesophageal reflux, Clinodactyly, Downturned corners of mouth, Diastema, Thick lower lip ver... OMIM:620185
Lumbar Syndrome
Myelomeningocele, Ectopic anus, Anal atresia, Spina bifida ORPHA:83628
Joubert Syndrome 20
Postaxial polydactyly, 4-5 toe syndactyly OMIM:614970
Codas Syndrome
Congenital hip dislocation, Absent epiphyses, Gastroesophageal reflux, Delayed eruption of teeth,... OMIM:600373
Fraser Syndrome
Anal stenosis, Toe syndactyly, Dental malocclusion, Finger syndactyly, Dental crowding, Umbilical... ORPHA:2052
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Macroglossia, Abnormal femoral torsion, Abnormal right ventricle morphology, Tibial torsion, Long... ORPHA:500095
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ventricular septal defect, Short hallux, Dysplastic aortic valve, Cleft maxillary... ORPHA:508488
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Joint contracture of the hand, Clinodactyly, Broad 2nd toe, Open mouth, Ventricular septal defect... OMIM:280000
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Intestinal atresia, Duodenal atresia, Ventricular septal defect ORPHA:3405
Alagille Syndrome
Short distal phalanx of finger, Clinodactyly of the 5th finger, Ventricular septal defect, Hypopl... ORPHA:52
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Long philtrum, Ventricular septal defect, Atrial septal defect, Everted lower lip vermilion, Post... ORPHA:75389
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short 5th finger, Toe clinodactyly, Bulbous tips of toes, Ventricular septal defect, 2-3 toe synd... ORPHA:163979
19Q13.11 Microdeletion Syndrome
Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Ventricular sept... ORPHA:217346
Thakker-Donnai Syndrome
Downturned corners of mouth, Tetralogy of Fallot, Narrow mouth, Ventricular septal defect, Anal a... ORPHA:1780
Bardet-Biedl Syndrome 1
High, narrow palate, Postaxial foot polydactyly, Dental crowding, Radial deviation of finger, Pos... OMIM:209900
Neu-Laxova Syndrome
Bifid uvula, Micromelia, Thick vermilion border, Submucous cleft hard palate, Spina bifida, Large... ORPHA:2671
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Large placenta, Ventricular septal defect, Umbilical hernia ORPHA:254534
Maternal Phenylketonuria
Hypoplastic left heart, Clinodactyly, Long philtrum, Abnormal heart morphology, Tetralogy of Fall... ORPHA:2209
Marshall-Smith Syndrome
Irregular dentition, Ventricular septal defect, Bullet-shaped middle phalanges of the hand, Atria... OMIM:602535
Renal Agenesis, Bilateral
Sirenomelia, Abnormal intestine morphology, Tracheoesophageal fistula, Non-midline cleft of the u... ORPHA:1848
Aicardi Syndrome
Cleft upper lip, Hiatus hernia, Hepatoblastoma, Spina bifida, Microphthalmia, Proximal placement ... OMIM:304050
Holoprosencephaly 1
Tessier cleft, Alobar holoprosencephaly, Median cleft palate, Median cleft upper lip, Ethmocephal... OMIM:236100
Refsum Disease
Abnormal epiphysis morphology, Cardiomyopathy, Microphthalmia, Short metacarpal, Hammertoe ORPHA:773
Distal 22Q11.2 Microduplication Syndrome
Toe syndactyly, Branchial fistula, Long philtrum, Camptodactyly of finger, Ventricular septal def... ORPHA:261337
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Wide mouth, Pulmoni... OMIM:615279
Popliteal Pterygium Syndrome
Bifid uvula, Fibrous syngnathia, Cleft upper lip, Cutaneous finger syndactyly, Lower lip pit, Tal... OMIM:119500
Thiamine-Responsive Megaloblastic Anemia Syndrome
Gastroesophageal reflux, Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Atria... OMIM:249270
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Umbilical hernia, Tetralogy of Fallot, Open mouth, Submucous cleft ... OMIM:192430
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Broad thumb, Overlapping toe, Bicuspid aortic valve, Atrial septal defect, Microphthalmia, High p... OMIM:612474
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Delayed eruption of teeth, Abnormal heart morphology, Thick upper ... OMIM:247200
Distal Duplication 5Q
Carious teeth, Absent thumb, Long philtrum, Narrow mouth, Ventricular septal defect, Hypoplasia o... ORPHA:96097
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Serkal Syndrome
Malrotation of small bowel, Orofacial cleft, Pulmonic stenosis, Ventricular septal defect ORPHA:139466
Warburg Micro Syndrome 3
Clinodactyly of the 5th finger, Narrow palate, Downturned corners of mouth, Microphthalmia OMIM:614222
Fanconi Anemia, Complementation Group F
Absent thumb, Short thumb, 2-3 finger syndactyly, Hypoplasia of the radius, Atrial septal defect,... OMIM:603467
Charge Syndrome
Unilateral microphthalmos, Anophthalmia, Ventricular septal defect, Overriding aorta, Atrial sept... OMIM:214800
Joubert Syndrome 23
Polydactyly OMIM:616490
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
X Small Rings
Toe syndactyly, Long philtrum, Upper limb undergrowth, Mitral stenosis, Lower limb undergrowth, V... ORPHA:96201
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Micromelia, Ventricular septal defect ORPHA:2772
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Ventricular hypertrophy, Dental crowding, Long philtrum, Umbilical hernia, Open mouth, Ventricula... OMIM:620654
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, High palate, Brachydactyly, Ventricular septal defect OMIM:619995
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Microphthalmia OMIM:618805
Beck-Fahrner Syndrome
Long philtrum, Open mouth, Ventricular septal defect, Cardiomegaly, Hip dysplasia, High palate OMIM:618798
Monosomy 13Q14
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Abnormality of the gastrointestinal tract, Br... ORPHA:1587
Holoprosencephaly 2
Bifid uvula, Alobar holoprosencephaly, Semilobar holoprosencephaly, Median cleft palate, Submucou... OMIM:157170
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Short long bone, Polydactyly OMIM:613819
Sotos Syndrome
High, narrow palate, Long metacarpals, Gastroesophageal reflux, Muscular ventricular septal defec... OMIM:117550
Laurence-Moon Syndrome
Abnormality of the hand, Polydactyly OMIM:245800
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly OMIM:600151
Marden-Walker Syndrome
Bifid uvula, Camptodactyly of finger, Situs inversus totalis, Narrow mouth, Submucous cleft hard ... ORPHA:2461
Fraser Syndrome 1
Tessier cleft, Dental malocclusion, Dental crowding, Cleft upper lip, Bilateral microphthalmos, M... OMIM:219000
Renpenning Syndrome 1
Joint contracture of the hand, Synostosis of the proximal phalanx of the thumb with the 1st metac... OMIM:309500
X-Linked Dominant Chondrodysplasia Punctata
Epiphyseal stippling, Talipes equinovarus, Neonatal epiphyseal stippling, Microphthalmia, High pa... ORPHA:35173
Sifrim-Hitz-Weiss Syndrome
Bifid uvula, Anteriorly placed anus, Tetralogy of Fallot, Ventricular septal defect, Short clavic... OMIM:617159
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia OMIM:167730
Helsmoortel-Van Der Aa Syndrome
Small hand, Carious teeth, Ankyloglossia, Genu valgum, Mitral valve prolapse, Atrial septal defec... OMIM:615873
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Intestinal malrotation, Intestinal obstruction, Jej... OMIM:243150
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Bifid uvula, Gastroesophageal reflux, Atrioventricular canal defect, Narrow mouth, Exaggerated cu... OMIM:619480
Galloway-Mowat Syndrome 3
Narrow mouth, Hiatus hernia, Arachnodactyly, Microphthalmia, Camptodactyly, High palate, Hip disl... OMIM:617729
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Abnormal heart morphology, Tented upper lip vermilion, Polydactyly, Deep philtrum, High palate ORPHA:314655
Oculo-Palato-Cerebral Syndrome
High, narrow palate, Small hand, Microphthalmia, Short foot, Cleft palate ORPHA:2714
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Anal stenosis, Gastroesophageal reflux, Carious teeth, Cleft lip, Ant... OMIM:117650
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Bifid uvula, Submucous cleft of soft and hard palate, Cleft lip, Long phi... OMIM:301022
Charge Syndrome
Abnormal tibia morphology, Narrow mouth, Anophthalmia, Microphthalmia, Aqueductal stenosis, Holop... ORPHA:138
Pontocerebellar Hypoplasia, Type 8
Gastroesophageal reflux, Tented upper lip vermilion, Patent foramen ovale, Ventricular septal def... OMIM:614961
Congenital Disorder Of Glycosylation, Type Iia
Slender long bone, Long philtrum, Diastema, Macrodontia, Wide mouth, Open mouth, Protruding tongu... OMIM:212066
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Cleft palate, Microphthalmia OMIM:610125
Hajdu-Cheney Syndrome
Foot acroosteolysis, Dental malocclusion, Long philtrum, Umbilical hernia, Intestinal malrotation... OMIM:102500
Adnp Syndrome
Broad thumb, Gastroesophageal reflux, Sandal gap, Oral-pharyngeal dysphagia, Umbilical hernia, Br... ORPHA:404448
Ulnar-Mammary Syndrome
Hypoplastic scapulae, Short 5th toe, Ventricular septal defect, Absent radius, Anal atresia, Shor... OMIM:181450
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Bifid uvula, Gastroesophageal reflux, Carious teeth, Branchial cyst, Clinodactyly, Broad hallux, ... OMIM:620186
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Ventricular septal defect, Thin upper lip vermilion, Smooth philtrum,... OMIM:235255
Diamond-Blackfan Anemia 1
Hypoplastic ilia, Absent thumb, Short thumb, Tricuspid stenosis, Cleft upper lip, Partial duplica... OMIM:105650
Ciliary Dyskinesia, Primary, 30
Absent outer dynein arms, Situs inversus totalis, Dextrocardia, Ventricular septal defect OMIM:616037
Hajdu-Cheney Syndrome
Aortic valve stenosis, Short distal phalanx of finger, Abnormality of the dentition, Coarse metap... ORPHA:955
Coffin-Siris Syndrome 4
Short 5th finger, Everted upper lip vermilion, Long philtrum, Thick lower lip vermilion, Mitral a... OMIM:614609
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Small hand, Short thumb, Anteriorly placed anus, Delayed eruption of ... OMIM:268400
Galloway-Mowat Syndrome 1
Hand clenching, Joint contracture of the hand, Slender finger, Hypoplasia of the iris, Hiatus her... OMIM:251300
Wolf-Hirschhorn Syndrome
Short thumb, Abdominal situs inversus, Preaxial hand polydactyly, Abnormal heart valve morphology... ORPHA:280
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Exaggerated median tongue furrow, Ventricular septal defect, Talipes equinovarus, He... OMIM:312870
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Smooth philtrum, Transpos... ORPHA:1727
Okamoto Syndrome
Aortic valve stenosis, Anal stenosis, Gastroesophageal reflux, Exaggerated median tongue furrow, ... ORPHA:2729
Cerebellofaciodental Syndrome
Macrodontia of permanent maxillary central incisor, Dental malocclusion, Slender long bone, Proxi... OMIM:616202
Donnai-Barrow Syndrome
Hypoplasia of the iris, Intestinal malrotation, Umbilical hernia, Ventricular septal defect, Shor... OMIM:222448
Premature Aging Syndrome, Penttinen Type
Short distal phalanx of finger, Slender long bone, Delayed eruption of teeth, Tibial bowing, Narr... OMIM:601812
Holoprosencephaly 14
Alobar holoprosencephaly, Cleft lip, Ventricular septal defect, Median cleft upper lip, Double ou... OMIM:619895
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Abnormally large globe, Ventricular septal defect, Thin upper lip ver... ORPHA:1655
Roberts-Sc Phocomelia Syndrome
Clinodactyly, Ventricular septal defect, Abnormal metacarpal morphology, Atrial septal defect, Ab... OMIM:268300
Tetraamelia Syndrome 2
Ankyloglossia, Ventricular septal defect, Bilateral cleft lip, Glossoptosis, Cleft palate OMIM:618021
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Large placenta, Nar... ORPHA:96334
Kinsship Syndrome
Gastroesophageal reflux, Downturned corners of mouth, Thick lower lip vermilion, Widely spaced te... OMIM:619297
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormal pelvic girdle bone morphology, Rhizomelia, Hemiatrophy, Stippled calcification in carpal... OMIM:302960
King-Denborough Syndrome
High palate, Deep philtrum, Ventricular septal defect OMIM:619542
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Broad alveolar ridges, Gastroesophageal reflux, Cleft lip, Furrowed tongue, Patent foramen ovale,... OMIM:616975
Oculopalatocerebral Syndrome
Cleft palate, Microphthalmia OMIM:257910
Neuroocular Syndrome 1
Short uvula, Prominent fingertip pads, Downturned corners of mouth, Umbilical hernia, Tibial tors... OMIM:619539
Teebi Hypertelorism Syndrome 1
Small hand, Natal tooth, Dental crowding, Long philtrum, Ventricular septal defect, Thin upper li... OMIM:145420
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
Gm1 Gangliosidosis
Gastroesophageal reflux, Coarse metaphyseal trabecularization, Abnormal epiphysis morphology, Abn... ORPHA:354
Intellectual Developmental Disorder, Autosomal Dominant 47
Gastroesophageal reflux, Wide mouth, Widely-spaced incisors, Ventricular septal defect OMIM:617635
Dubowitz Syndrome
Gastroesophageal reflux, Carious teeth, Velopharyngeal insufficiency, Delayed eruption of teeth, ... OMIM:223370
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Carpal osteolysis, Abnormal hand morphology, Osteolysis involving tarsal bones, Mitral valve prol... ORPHA:371428
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Hydrocephalus, Microphthalmia OMIM:616538
Coffin-Siris Syndrome 1
Aplasia/Hypoplasia of the patella, Ventricular septal defect, Atrial septal defect, Dislocated ra... OMIM:135900
Chromosome 15Q25 Deletion Syndrome
Cleft upper lip, Coronary artery fistula, Thin vermilion border, Tented upper lip vermilion, Vent... OMIM:614294
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Esophageal Atresia
Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Cleft lip, Clinodactyly, ... ORPHA:1199
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Specc1L-Related Hypertelorism Syndrome
Short toe, Finger syndactyly, Umbilical hernia, Tetralogy of Fallot, Long philtrum, Ventricular s... ORPHA:1519
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Ulnar deviation of finger, Clinodactyly, Sandal ga... OMIM:618164
Hallermann-Streiff Syndrome
High, narrow palate, Abnormality of the dentition, Small hand, Natal tooth, Abdominal situs inver... ORPHA:2108
Multifocal Atrial Tachycardia
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Left ventricular di... ORPHA:3282
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Unilateral cleft lip, Thick lower lip vermilion, Submucous cleft hard palate, Ventricular septal ... OMIM:619103
Fontaine Progeroid Syndrome
Narrow mouth, Protruding tongue, Bicuspid aortic valve, Atrial septal defect, Everted lower lip v... OMIM:612289
Lymphedema-Distichiasis Syndrome
Cleft upper lip, Tetralogy of Fallot, Ventricular septal defect, Microphthalmia, Cleft palate OMIM:153400
Degcags Syndrome
Toe syndactyly, Oral-pharyngeal dysphagia, Genu valgum, Protruding tongue, Ventricular septal def... OMIM:619488
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Small thenar eminence, Atrial septal defect, Hip dislocation, Short to... OMIM:613458
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Comp... OMIM:613854
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Hypoplasia of teeth, Ventricular septal defect OMIM:234050
Kaufman Oculocerebrofacial Syndrome
Congenital hip dislocation, Carious teeth, Diastema, Intestinal malrotation, Narrow mouth, Single... OMIM:244450
Trichohepatoneurodevelopmental Syndrome
Gastroesophageal reflux, Dental crowding, Downturned corners of mouth, Widely spaced teeth, Overl... OMIM:618268
Craniofacioskeletal Syndrome
Small hand, Ventricular septal defect, Thin upper lip vermilion, Brachydactyly, Narrow iliac wing... OMIM:300712
Rabson-Mendenhall Syndrome
Abnormality of the dentition, Dental crowding, Cardiomyopathy, Furrowed tongue, Gingival overgrow... ORPHA:769
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Enterocolitis, Microphthalmia OMIM:301108
Oculotrichoanal Syndrome
Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia ORPHA:2717
Long-Olsen-Distelmaier Syndrome
Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defe... OMIM:620609
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... OMIM:620570
Feingold Syndrome 1
Tricuspid stenosis, Short toe, Short thumb, Short middle phalanx of finger, Thick vermilion borde... OMIM:164280
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Anophthalmia, Submucous c... ORPHA:2250
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Long philtrum, Anophthalmia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly OMIM:615877
Histiocytoid Cardiomyopathy
Congenital aphakia, Ventricular septal defect, Cardiomegaly, Hydrocephalus, Microphthalmia, Cleft... ORPHA:137675
Oculoauricular Syndrome
Macular hypoplasia, Phthisis bulbi, Microphakia, Microphthalmia, Spina bifida occulta, Short mand... OMIM:612109
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Ventricular septal defect, Triphalangeal thumb, Rocker bottom foot, C... ORPHA:3078
Simpson-Golabi-Behmel Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Ventricular septal defect, Talipes equinovarus, H... ORPHA:373
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Elbow flexion contracture, Cutaneous finger syndactyly, Hip contracture, Ventr... OMIM:178110
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Overlapping toe, Ventricular septal defect, Atrial septal defect, Hol... OMIM:270400
Kagami-Ogata Syndrome
Long philtrum, Ventricular septal defect, Pulmonic stenosis, Limb undergrowth, Atrial septal defe... OMIM:608149
Developmental Delay With Or Without Dysmorphic Facies And Autism
2-3 toe cutaneous syndactyly, Cleft lip, Umbilical hernia, Patent foramen ovale, Ventricular sept... OMIM:618454
Den Hoed-De Boer-Voisin Syndrome
Small hand, Gastroesophageal reflux, Carious teeth, Sandal gap, Yellow-brown discoloration of the... OMIM:619229
Cranioectodermal Dysplasia 2
Mesomelia, Rhizomelia, Clinodactyly, Widely spaced teeth, Patent foramen ovale, Polydactyly, Micr... OMIM:613610
Stankiewicz-Isidor Syndrome
Absent thumb, Short thumb, Truncus arteriosus, 2-3 toe syndactyly, Ventricular septal defect OMIM:617516
Dysosteosclerosis
Coarse metaphyseal trabecularization, Delayed eruption of teeth, Abnormal dental enamel morpholog... ORPHA:1782
Aicardi Syndrome
Small hand, Gastroesophageal reflux, Cleft upper lip, Intestinal polyposis, Hiatus hernia, Hepato... ORPHA:50
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Congenital Disorder Of Glycosylation, Type Iq
Dysphagia, Microphthalmia OMIM:612379
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Goldberg-Shprintzen Syndrome
Small hand, Ventricular septal defect, Oligodontia, Aganglionic megacolon, Everted lower lip verm... OMIM:609460
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Periodontitis, Open bite, Genu valgum, Open mouth, Everted lower lip vermilion, Mi... ORPHA:534
Opitz Gbbb Syndrome
Cleft lip, Natal tooth, Long philtrum, Umbilical hernia, Abnormal heart morphology, Ankyloglossia... ORPHA:2745
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Palmoplantar cutis laxa, Left ventricular... OMIM:615355
Skin Creases, Congenital Symmetric Circumferential, 2
Carious teeth, Narrow mouth, Microdontia, 2-3 toe syndactyly, Thin upper lip vermilion, Long fing... OMIM:616734
Witteveen-Kolk Syndrome
Small hand, Toe syndactyly, Clinodactyly, Overlapping toe, Narrow mouth, Open mouth, Arachnodacty... OMIM:613406
Traboulsi Syndrome
Bifid uvula, Dental malocclusion, Broad hallux, Short finger, Arachnodactyly, Cubitus valgus, Mic... OMIM:601552
Tetraamelia Syndrome 1
Cleft upper lip, Hypoplastic pelvis, Hydrocephalus, Microphthalmia, Anal atresia, Cleft palate OMIM:273395
Omodysplasia 1
Rhizomelia, Short tibia, Long philtrum, Limited elbow flexion, Umbilical hernia, Limited elbow ex... OMIM:258315
Ogden Syndrome
High, narrow palate, Everted upper lip vermilion, Broad hallux, Ventricular septal defect ORPHA:276432
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Abdominal situs inversus, Atria... OMIM:617205
Kleefstra Syndrome
Gastroesophageal reflux, Downturned corners of mouth, Delayed eruption of teeth, Tetralogy of Fal... ORPHA:261494
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conical tooth, Cleft lip, Palmoplantar keratoderma, Selective tooth agenesis, Cleft upper lip, Wi... OMIM:106260
Mosaic Variegated Aneuploidy Syndrome 2
Rhizomelia, Clinodactyly, Narrow mouth, Single transverse palmar crease, Ventricular septal defec... OMIM:614114
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Ventricular septal defect OMIM:613680
Aprosencephaly Syndrome
Finger aplasia, Aprosencephaly, Anencephaly OMIM:207770
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
De Barsy Syndrome
Congenital hip dislocation, Delayed eruption of teeth, Umbilical hernia, Narrow mouth, Ventricula... ORPHA:2962
Loeys-Dietz Syndrome 2
Bifid uvula, Joint contracture of the hand, Bicuspid pulmonary valve, Umbilical hernia, Protrusio... OMIM:610168
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of finger, Gastroesophageal reflux, Optic disc hypoplasia, Epiphyseal stippl... ORPHA:79345
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Townes-Brocks Syndrome
Toe syndactyly, Broad thumb, Atrial septal defect, Rectoperineal fistula, Microphthalmia, Anal at... ORPHA:857
Pagod Syndrome
Hypoplastic left heart, Situs inversus totalis, Encephalocele, Spina bifida, Meningocele ORPHA:991
Diamond-Blackfan Anemia 12
Triphalangeal thumb, Ventricular septal defect OMIM:615550
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Abnormal... ORPHA:261183
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Microcolon, Total absence of the pericardium, Hypoplastic tricuspid valve, Umb... OMIM:600001
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Long philtrum, Tented upper lip vermilion, Single transverse palmar crease, Postaxial polydactyly... OMIM:617527
Rodrigues Blindness
Tooth malposition, Microphthalmia OMIM:268320
Culler-Jones Syndrome
Postaxial polydactyly, Cleft upper lip, Cleft palate OMIM:615849
Warburg Micro Syndrome 2
Clinodactyly of the 5th toe, Overlapping toe, Clinodactyly of the 4th toe, Microphthalmia OMIM:614225
Warburg Micro Syndrome 4
Narrow mouth, Long philtrum, Microphthalmia OMIM:615663
Transaldolase Deficiency
Patent foramen ovale, Ventricular septal defect, Deep philtrum, Atrial septal defect, Thin vermil... OMIM:606003
Marfan Syndrome
High, narrow palate, Increased axial length of the globe, Dental crowding, Hypoplasia of the iris... ORPHA:558
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Gastroesophageal reflux, Dental crowding, Synostosis of the proximal phalanx... OMIM:300967
Noonan Syndrome 4
Dental malocclusion, Hypertrophic cardiomyopathy, Ventricular septal defect, Cubitus valgus, Atri... OMIM:610733
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect OMIM:618901
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Monosomy 9P
Abnormality of the dentition, Long philtrum, Abnormality of the tarsal bones, Narrow mouth, Bilat... ORPHA:261112
Diets-Jongmans Syndrome
Umbilical hernia, Heterotaxy, Ventricular septal defect, Thin upper lip vermilion, Hip dysplasia,... OMIM:618846
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Intestinal malrotation, Biventricular hypertr... OMIM:618280
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... OMIM:613751
Histiocytosis-Lymphadenopathy Plus Syndrome
Clinodactyly, Tibial torsion, Camptodactyly of finger, Elbow flexion contracture, Azoospermia, Jo... OMIM:602782
Methimazole Embryofetopathy
Tracheoesophageal fistula, Esophageal atresia, Ventricular septal defect ORPHA:1923
Fraser Syndrome 2
Intestinal malrotation, Narrow mouth, Cutaneous syndactyly, Rectal atresia, Microphthalmia, Anal ... OMIM:617666
Braddock Syndrome
Preaxial hand polydactyly ORPHA:52047
Fanconi Anemia, Complementation Group E
Absent thumb, Short thumb, Abnormal heart morphology, Absent radius, Microphthalmia, Complete dup... OMIM:600901
Phakomatosis Pigmentokeratotica
Hemiatrophy, Spina bifida ORPHA:2874
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Clinodactyly of the 5th finger, Microphthalmia OMIM:617306
Microphthalmia, Syndromic 1
Tooth malposition, Joint contracture of the hand, Clinodactyly, Anophthalmia, Bicuspid aortic val... OMIM:309800
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cleft upper lip, Tetralogy of Fallot, Ventricular septal defect, Split hand, Clubbing, Cleft palate OMIM:600460
Cornelia De Lange Syndrome
Small hand, Toe syndactyly, Elbow dislocation, Bilateral single transverse palmar creases, Ventri... ORPHA:199
Proboscis Lateralis
Long philtrum, Anophthalmia, Ventricular septal defect, Orofacial cleft, Agenesis of canine, Micr... ORPHA:141099
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short distal phalanx of finger, Ventricular septal defect, Metaphyseal chondrodysplasia, Brachyda... OMIM:250410
Peroxisome Biogenesis Disorder 1A (Zellweger)
High, narrow palate, Ulnar deviation of the hand or of fingers of the hand, Epiphyseal stippling,... OMIM:214100
Alg9-Cdg
Ventricular septal defect, Talipes equinovarus, Broad ischia, Atrial septal defect, Gastroesophag... ORPHA:79328
Peters-Plus Syndrome
Square pelvis bone, Short lingual frenulum, Limited elbow movement, Ventricular septal defect, At... OMIM:261540
Dyrk1A-Related Intellectual Disability Syndrome
Acromesomelia, Aortic valve stenosis, Toe syndactyly, Gastroesophageal reflux, Polydactyly, Arach... ORPHA:464306
Cranioectodermal Dysplasia 3
Rhizomelia, 2-4 toe syndactyly, Sandal gap, Widely spaced teeth, Postaxial polydactyly, 2-3 toe s... OMIM:614099
Heterotaxy, Visceral, 12, Autosomal
Hypoplastic left heart, Double inlet right ventricle, Dextrotransposition of the great arteries, ... OMIM:619702
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Genu valgum, Ventricular septal defect, Gastrointestinal dysmotility, Wid... OMIM:617798
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Bilateral microphthalmos, Microphthalmia ORPHA:2399
Alobar Holoprosencephaly
Bifid uvula, Gastroesophageal reflux, Abnormal heart morphology, Abnormal gastrointestinal tract ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Bifid uvula, Gastroesophageal reflux, Abnormal heart morphology, Abnormal gastrointestinal tract ... ORPHA:93926
Lobar Holoprosencephaly
Bifid uvula, Gastroesophageal reflux, Abnormal heart morphology, Abnormal gastrointestinal tract ... ORPHA:93924
Semilobar Holoprosencephaly
Bifid uvula, Gastroesophageal reflux, Abnormal heart morphology, Abnormal gastrointestinal tract ... ORPHA:220386
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Palmoplantar keratoderma, Cleft lip, Myofiber disarray, Patent foramen ov... OMIM:620519
Fanconi Anemia, Complementation Group C
Absent thumb, Short thumb, Ventricular septal defect, Absent radius, Microphthalmia, Complete dup... OMIM:227645
Cardiac Diverticulum
Aortic valve stenosis, Congenital defect of the pericardium, Umbilical hernia, Abnormal heart mor... ORPHA:1686
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Open mouth, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Clinodactyly of th... ORPHA:457284
Branchiooculofacial Syndrome
Abnormality of the dentition, Gastroesophageal reflux, Short thumb, Cleft upper lip, Preaxial han... OMIM:113620
Schinzel-Giedion Syndrome
Overlapping toe, Overlapping fingers, Radioulnar synostosis, Hepatoblastoma, High palate, Dysphag... ORPHA:798
Fanconi Anemia, Complementation Group A
Absent thumb, Short thumb, Abnormal heart morphology, Absent radius, Microphthalmia, Complete dup... OMIM:227650
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
High palate, Cleft palate, Ventricular septal defect ORPHA:52055
Micro Syndrome
Short philtrum, High palate, Microphthalmia ORPHA:2510
Microphthalmia, Syndromic 6
Bifid uvula, Toe syndactyly, Microglossia, Finger syndactyly, Thumb contracture, Anophthalmia, Si... OMIM:607932
Bardet-Biedl Syndrome 20
Preaxial foot polydactyly, 2-3 toe syndactyly, Postaxial polydactyly, Atrial septal defect, Posta... OMIM:619471
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Duodenal stenosis ORPHA:2470
Craniotubular Dysplasia, Ikegawa Type
Broad femoral neck, Long philtrum, Thick lower lip vermilion, Thick upper lip vermilion, Ventricu... OMIM:619727
Neurocardiofaciodigital Syndrome
Tetralogy of Fallot, Polydactyly, Atrial septal defect, Double inlet left ventricle, Thin vermili... OMIM:619869
Phelan-Mcdermid Syndrome
Gastroesophageal reflux, Dental malocclusion, Long philtrum, Widely spaced teeth, Ventricular sep... OMIM:606232
Chops Syndrome
High, narrow palate, Gastroesophageal reflux, Downturned corners of mouth, Long philtrum, Patent ... OMIM:616368
Joubert Syndrome 24
Talipes equinovarus, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:616654
Manitoba Oculotrichoanal Syndrome
Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia OMIM:248450
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Broad thumb, Carious teeth, Natal tooth, Ventricular septal defect, Bicusp... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Broad thumb, Carious teeth, Natal tooth, Ventricular septal defect, Bicusp... ORPHA:353277
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Dental malocclusion, Diastema, Short lingual frenulum, Single transverse p... ORPHA:96121
Cornelia De Lange Syndrome 6
Macrodontia of permanent maxillary central incisor, Gastroesophageal reflux, Short 1st metacarpal... OMIM:620568
Tbck-Related Intellectual Disability Syndrome
High, narrow palate, Clinodactyly, Long philtrum, Tented upper lip vermilion, Ventricular septal ... ORPHA:488632
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Abdominal situs inversus, Intestinal malrotation, Atriov... OMIM:270100
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Gastroesophageal reflux, Dysphagia, Ventricular septal defect OMIM:619909
Trichohepatoenteric Syndrome 1
Bifid uvula, Long philtrum, Tetralogy of Fallot, Avascular necrosis of the capital femoral epiphy... OMIM:222470
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Gastroesophageal reflux, Short 5th toe, 2-4 toe cutaneous syndactyly, Wide... ORPHA:268261
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular septal defect, C... OMIM:616564
Koolen-De Vries Syndrome Due To A Point Mutation
Prominent fingertip pads, Cardiomyopathy, Abnormal heart morphology, Abnormal dental morphology, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Prominent fingertip pads, Cardiomyopathy, Abnormal heart morphology, Abnormal dental morphology, ... ORPHA:363958
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... OMIM:108800
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... ORPHA:2334
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Thin upper lip vermilion, Overriding aorta, Atrial septal defect, Ventricular septal defect OMIM:601927
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Loeys-Dietz Syndrome 1
Bifid uvula, Mitral valve prolapse, Arachnodactyly, Eosinophilic infiltration of the esophagus, T... OMIM:609192
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Ventricular septal defect, Metaphyseal chondrodysplasia, Hallux valgus, Brachydactyly, Short meta... ORPHA:166035
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Small hand, Thick vermilion border, Patent foramen ovale, Microdontia, Smooth philtrum, Atrial se... OMIM:620005
Arima Syndrome
Postaxial foot polydactyly, Occipital meningocele, Postaxial hand polydactyly, Wide mouth, Esopha... OMIM:243910
Orofaciodigital Syndrome Type 14
Postaxial foot polydactyly, Broad hallux, Hamartoma of tongue, Deviation of the hallux, Accessory... ORPHA:434179
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Syndactyly OMIM:605231
Keutel Syndrome
Short distal phalanx of finger, Ventricular septal defect ORPHA:85202
Ogden Syndrome
Everted upper lip vermilion, Thick upper lip vermilion, Ventricular septal defect, Bicuspid aorti... OMIM:300855
Arboleda-Tham Syndrome
Enlarged proximal interphalangeal joints, Genu valgum, Narrow mouth, Ventricular septal defect, S... OMIM:616268
Microphthalmia/Coloboma 9
Long philtrum, Microphthalmia OMIM:615145
Trichothiodystrophy
High, narrow palate, Carious teeth, Cardiomyopathy, Umbilical hernia, Bilateral microphthalmos, V... ORPHA:33364
Craniofacial Microsomia 1
Occipital encephalocele, Cleft upper lip, Tetralogy of Fallot, Genu valgum, Branchial anomaly, Pa... OMIM:164210
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Esophageal atresia, Microphthalmia,... OMIM:206900
Cutis Laxa, Autosomal Recessive, Type Ib
Arachnodactyly, Bowing of the long bones, Spina bifida, Long fingers, High palate, Right ventricu... OMIM:614437
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Bilateral microphthalmos, Tetralogy of Fallot, Anophthalmia, Truncus art... OMIM:601186
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Cone-shaped epiphysis, Atrioventricular canal defect, Aplasia of the epiglottis, Postaxial polyda... OMIM:617088
Congenital Primary Aphakia
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... ORPHA:83461
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Duodenal atresia, Camptodactyly of finger, Bilateral microphthalmos, Narrow mouth, Smooth philtru... ORPHA:468631
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Bifid uvula, Long philtrum, Widely spaced teeth, Hypertrophic cardiomyopathy, Patent foramen oval... OMIM:617506
Zellweger Syndrome
High palate, Epiphyseal stippling, Ventricular septal defect, Pyloric stenosis ORPHA:912
Hardikar Syndrome
Unilateral cleft lip, Umbilical hernia, Intestinal malrotation, Cleft soft palate, Patent foramen... OMIM:301068
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele, Flexion contracture of finger, Palmoplantar keratoderma ORPHA:1010
Chromosome 14Q11-Q22 Deletion Syndrome
Gastroesophageal reflux, Hip subluxation, Long philtrum, Narrow mouth, Patent foramen ovale, Vent... OMIM:613457
Knobloch Syndrome 1
Occipital encephalocele, Macular hypoplasia, Phthisis bulbi, Spina bifida occulta, Occipital meni... OMIM:267750
Cockayne Syndrome B
Carious teeth, Square pelvis bone, Dental malocclusion, Hypoplasia of the iris, Hypoplastic iliac... OMIM:133540
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal rectum morphology, Abnormal dental ... ORPHA:2556
Noonan Syndrome 2
Prominent fingertip pads, Cardiomyopathy, Long philtrum, Hypertrophic cardiomyopathy, Atrioventri... OMIM:605275
Cardiac Valvular Dysplasia 1
Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Hypoplasia o... OMIM:212093
X-Linked Intellectual Disability, Nascimento Type
Clubbing of toes, Downturned corners of mouth, Tetralogy of Fallot, Overlapping toe, Mitral steno... ORPHA:163956
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
High, narrow palate, Gastroesophageal reflux, Dental crowding, Synostosis involving the 1st metac... ORPHA:466791
Yunis-Varon Syndrome
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Bilateral single transverse palmar creases, V... OMIM:216340
Congenital Gerbode Defect
Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent... ORPHA:99095
Trichothiodystrophy 1, Photosensitive
Triangular mouth, Intestinal obstruction, Microphthalmia OMIM:601675
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Tooth malposition, Small hand, Overlapping toe, Atrial septal defect, High palate, Anal atresia, ... ORPHA:480880
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Gastroesophageal reflux, Hypertrophic cardiomyopathy, Short humerus... ORPHA:17
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of the dentition, Microphthalmia ORPHA:1806
Khan-Khan-Katsanis Syndrome
Clinodactyly, Tented upper lip vermilion, Patent foramen ovale, Postaxial polydactyly, Triangular... OMIM:618460
Chromosome 1P36 Deletion Syndrome, Distal
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, High palate, Short foot, ... OMIM:607872
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Ventricular septal defect, Bicuspid aortic valve, Atrial se... OMIM:265380
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia OMIM:610256
Mosaic Trisomy 20
Cleft lip, Clinodactyly, Abnormal mitral valve morphology, Down-sloping shoulders, Ventricular se... ORPHA:1724
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Hand clenching, Gastroesophageal reflux, Open mouth, Ventricular septal defect, Talipes equinovar... OMIM:614653
Viss Syndrome
Cleft soft palate, Genu valgum, Mitral valve prolapse, Contracture of the proximal interphalangea... OMIM:619472
Kabuki Syndrome 1
Short 5th finger, Congenital hip dislocation, Anal stenosis, Abnormality of the dentition, Anoper... OMIM:147920
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Atrial septal defect, Postaxial hand polydactyly ORPHA:2519
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Tooth malposition, Long hallux, Genu valgum, Open mouth, Arachnodactyly, B... ORPHA:261537
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Hip dysplasia, Right ventr... OMIM:208085
Faciocardiomelic Syndrome
Dental malocclusion, Slender long bone, Long philtrum, Hypoplastic pelvis, Polydactyly, Common at... OMIM:612731
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Cerebellar-Facial-Dental Syndrome
Macrodontia of permanent maxillary central incisor, Dental malocclusion, Slender long bone, Long ... ORPHA:444072
Paternal Uniparental Disomy Of Chromosome 6
Umbilical hernia, Gingival overgrowth, Ventricular septal defect, Cardiomegaly, Macroglossia, Hig... ORPHA:96191
Early Infantile Epileptic Encephalopathy
Short finger, Umbilical hernia, Broad phalanx of the toes, Ventricular septal defect, Cleft palat... ORPHA:1934
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Optic disc hypoplasia, Long philtrum, Exaggerated cupid's bow, Ventricular septal defect, Thin up... OMIM:619306
Oeis Complex
Congenital hip dislocation, Duplicated colon, Anteriorly placed anus, Myelomeningocele, Intestina... OMIM:258040
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Ventricular septal defect ORPHA:452
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Delayed eruption of primary ... OMIM:300952
Mowat-Wilson Syndrome
Aortic valve stenosis, Tooth malposition, Genu valgum, Open mouth, Bicuspid aortic valve, Everted... ORPHA:2152
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Congenital Disorder Of Glycosylation, Type It
Bifid uvula, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly, Cleft palate, Pierr... OMIM:614921
Costello Syndrome
Thick lower lip vermilion, Hyperextensibility of the finger joints, Hypertrophic cardiomyopathy, ... OMIM:218040
Bardet-Biedl Syndrome 12
Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly OMIM:615989
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal dental pulp morphology, Long philtrum, Abnormal tibia morphology, Abnormal heart morphol... ORPHA:363700
Neurofibromatosis, Type I
Tibial pseudarthrosis, Genu valgum, Hydrocephalus, Spina bifida, Aqueductal stenosis OMIM:162200
Bosma Arhinia Microphthalmia Syndrome
Cleft lip, Dental malocclusion, Microphthalmia, High palate, Hypoplasia of teeth, Cleft palate OMIM:603457
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
High, narrow palate, Hematochezia, Ventricular septal defect, Hydrocephalus, Short philtrum OMIM:619575
Combined Pituitary Hormone Deficiencies, Genetic Forms
Median cleft palate, Abnormal digit morphology, Polydactyly, Holoprosencephaly, Septo-optic dyspl... ORPHA:95494
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly OMIM:615824
Peroxisome Biogenesis Disorder 5A (Zellweger)
Epiphyseal stippling, Single transverse palmar crease, Ventricular septal defect, Talipes equinov... OMIM:614866
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Broad thumb, Carious teeth, Natal tooth, Ventricular septal defect, Bicusp... ORPHA:353281
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bifid uvula, High palate, Ventricular septal defect OMIM:300472
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... ORPHA:1461
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Congenital defect of the pericardium, Umbilical hernia, Intestinal m... ORPHA:2255
Williams Syndrome
Carious teeth, Open bite, Genu valgum, Mitral valve prolapse, Ventricular septal defect, Radiouln... ORPHA:904
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Increased axial length of the globe, Gastroesophageal reflux, Everted upper lip vermilion, Widely... ORPHA:513456
Phace Association
Microphthalmia, Optic nerve hypoplasia, Ventricular septal defect OMIM:606519
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Anteriorly placed anus, Patent foramen ovale, Ventricular septal defect, ... ORPHA:26793
Mgat2-Cdg
Gastroesophageal reflux, Dental crowding, Abnormal heart morphology, Open mouth, Ventricular sept... ORPHA:79329
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Diamond-Blackfan Anemia
Cleft lip, Absent thumb, Abnormality of the thenar eminence, Short thumb, Abnormal heart morpholo... ORPHA:124
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Coffin-Siris Syndrome
Short 5th finger, Clinodactyly, Delayed eruption of teeth, Thick lower lip vermilion, Abnormal he... ORPHA:1465
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Broad thumb, Ventricular septal defect, Broad first met... OMIM:619534
Treacher Collins Syndrome 1
Bilateral microphthalmos, Abnormal heart morphology, Cleft soft palate, Narrow mouth, Wide mouth,... OMIM:154500
Structural Heart Defects And Renal Anomalies Syndrome
Tetralogy of Fallot, Overlapping toe, Truncus arteriosus, Ventricular septal defect, Atrial septa... OMIM:617478
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Tessier cleft, Abnormal pelvis bone ossification, Micromelia, Preaxial hand polydactyly, Long phi... ORPHA:93271
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Tooth malposition, Long hallux, Genu valgum, Open mouth, Ventricular septa... ORPHA:261552
Mowat-Wilson Syndrome
Tooth malposition, Abnormal enteric ganglion morphology, Delayed eruption of teeth, Widely spaced... OMIM:235730
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Toe syndactyly, Gastroesophageal reflux, Long philtrum, Short finger, Dilatation of the ventricul... ORPHA:459070
Zttk Syndrome
Bifid uvula, Small hand, Abnormality of the dentition, Downturned corners of mouth, Narrow mouth,... OMIM:617140
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Gastroesophageal reflux, Volvulus, Intestinal malrotation, Overlapping toe, Ventricular septal de... OMIM:616682
Legius Syndrome
Mitral valve prolapse, Polydactyly, Desmoid tumors, Clinodactyly of the 5th finger, Pulmonic sten... ORPHA:137605
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Small hand, Gastroesophageal reflux, Hip subluxation, Downturned corners of mouth, Long philtrum,... ORPHA:444077
Blepharophimosis, Ptosis, And Epicanthus Inversus
High palate, Microphthalmia OMIM:110100
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Double Outlet Left Ventricle
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Orofacial cleft, Pulmonary val... ORPHA:3427
Scimitar Syndrome
Hypoplastic left heart, Abnormal heart morphology, Tetralogy of Fallot, Mitral atresia, Ventricul... ORPHA:185
Cardiospondylocarpofacial Syndrome
Gastroesophageal reflux, Cone-shaped epiphysis, Long philtrum, Carpal synostosis, Muscular ventri... OMIM:157800
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Toe clinodactyly, Bifid uvula, Sandal gap, Long philtrum, Umbilical hernia, Ventricular septal de... OMIM:620330
Osteoporosis-Pseudoglioma Syndrome
Tibial bowing, Ventricular septal defect, Phthisis bulbi, Metaphyseal widening, Microphthalmia OMIM:259770
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Cleft lip, Cleft palate, Ventricular septal defect OMIM:611812
Incontinentia Pigmenti
Conical tooth, Delayed eruption of teeth, Oligodontia, Hypoplasia of the fovea, Hypodontia, Micro... OMIM:308300
Noonan Syndrome 3
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova... OMIM:609942
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Bifid uvula, Camptodactyly of finger, Atrioventricular canal defect, Bilateral single transverse ... ORPHA:3047
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Situs inversus totalis, Conot... ORPHA:3097
Bardet-Biedl Syndrome
Fifth finger distal phalanx clinodactyly, Inflammation of the large intestine, Dental crowding, F... ORPHA:110
Seckel Syndrome 9
Talipes equinovarus, Atrial septal defect, Ventricular septal defect OMIM:616777
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Gastroesophageal reflux, Short toe, Ventricular septal defect, Flexion con... ORPHA:464311
Acrofacial Dysostosis, Cincinnati Type
Cleft lip, Biventricular hypertrophy, Median pseudocleft lip, Femoral bowing, Clinodactyly of the... OMIM:616462
Pallister-Killian Syndrome
Aortic valve stenosis, Small hand, Postaxial foot polydactyly, Ventricular septal defect, Atrial ... OMIM:601803
Thauvin-Robinet-Faivre Syndrome
Long hallux, Mitral valve prolapse, Ventricular septal defect, Large hands, Thick vermilion borde... OMIM:617107
Maternal Uniparental Disomy Of Chromosome 2
Clinodactyly of the 5th finger, Preaxial hand polydactyly ORPHA:96179
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Biventricular hypertrophy, Left ventricular hypertrophy, Patent foramen ovale, Ventricular septal... OMIM:615474
Renal Agenesis
Talipes equinovarus, Anal atresia, Ventricular septal defect ORPHA:411709
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Internally rotated shoulders, Cleft soft palate, Narrow mouth, Hip contracture, Ventricular septa... OMIM:619503
Genitopatellar Syndrome
Congenital hip dislocation, Malrotation of small bowel, Anal stenosis, Delayed eruption of teeth,... OMIM:606170
Microphthalmia/Coloboma 12
Optic nerve aplasia, Microphthalmia OMIM:120200
Congenital Tracheomalacia
Gastroesophageal reflux, Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defec... ORPHA:95430
Noonan Syndrome 1
High, narrow palate, Dental malocclusion, Clinodactyly, Radial deviation of finger, Hypertrophic ... OMIM:163950
Congenital Tracheal Stenosis
Hypoplastic left heart, Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abno... ORPHA:141127
Exstrophy-Epispadias Complex
Anal stenosis, Abnormal heart morphology, Abnormality of the gastrointestinal tract, Hydrocephalu... ORPHA:322
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect ORPHA:1455
Norrie Disease
Hypoplasia of the iris, Buphthalmos, Microphthalmia OMIM:310600
Choanal Atresia
Polydactyly ORPHA:137914
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect OMIM:126320
Meacham Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Ventricular septal defect, Bicuspi... OMIM:608978
Transketolase Deficiency
Abnormal heart morphology, Atrial septal defect, Patent foramen ovale, Ventricular septal defect ORPHA:488618
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Hypertrophic cardiomyopathy, Ventricular septal defect, Cubitus valgus, Deep palmar crease, Atria... OMIM:607721
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Long philtrum, Thick vermilion border, Anophthalmia, Atrial septal defect, Microphthalmia ORPHA:2526
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... OMIM:615067
Diamond-Blackfan Anemia 10
Cleft palate, Ventricular septal defect OMIM:613309
Syndromic Diarrhea
Abnormal heart morphology, Tetralogy of Fallot, Villous atrophy, Ventricular septal defect, Bicus... ORPHA:84064
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Abnormality of the medullary cavity of the long bones, Microphtha... OMIM:127000
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia ORPHA:91495
Diaphragmatic Hernia 4, With Cardiovascular Defects
Finger syndactyly, Ventricular septal defect, 2-3 toe syndactyly, Talipes equinovarus, Aortopulmo... OMIM:620025
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Hydrocephalus, Everted lower lip vermilion, Microphthalmia, Buphthalmos OMIM:253280
Cockayne Syndrome
Carious teeth, Gastroesophageal reflux, Abnormal epiphysis morphology, Dental malocclusion, Agene... ORPHA:191
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Short 5th finger, Carious teeth, Short thumb, Downturned corners of mouth, Short finger, Single t... OMIM:619522
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Bilateral microphthalmos, Persistence of primary teeth, Stenosis of the medullary ... ORPHA:93325
Phace Syndrome
Abnormal heart morphology, Tetralogy of Fallot, Abnormal cardiac septum morphology, Microphthalmi... ORPHA:42775
Congenital Disorder Of Glycosylation, Type Iiaa
Bilateral talipes equinovarus, Short long bone, Ventricular septal defect OMIM:620454
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Small hand, Single transverse palmar crease, Ventricular septal d... OMIM:614947
Cockayne Syndrome Type 3
Carious teeth, Gastroesophageal reflux, Cardiomyopathy, Enamel hypoplasia, Microphthalmia ORPHA:90324
Isolated Arrhinia
Tessier cleft, Microphthalmia ORPHA:1134
Williams-Beuren Syndrome
Open mouth, Mitral valve prolapse, Ventricular septal defect, Radioulnar synostosis, Bicuspid aor... OMIM:194050
Keutel Syndrome
Short distal phalanx of finger, Short thumb, Epiphyseal stippling, Ventricular septal defect, Pre... OMIM:245150
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Buphthalmos, Microphthalmia OMIM:221900
Combined Immunodeficiency-Enteropathy Spectrum
Jejunoileal ulceration, Intestinal malrotation, Ventricular septal defect, Intestinal atresia, Ga... ORPHA:436252
Papillorenal Syndrome
Microphthalmia OMIM:120330
Alstrom Syndrome
Gingivitis, Abnormality of the dentition, Dilated cardiomyopathy, Polydactyly OMIM:203800
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... OMIM:620066
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Finger swelling, Wrist swelling, Camptodactyly of finger, Genu val... OMIM:309000
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Anteriorly placed anus, Tetralogy of Fallot, Patent foramen ovale, Ventri... OMIM:618748
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Laubry-Pezzi Syndrome
Patent foramen ovale, Aortic valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Le... ORPHA:99094
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Coarse metaphyseal trabecularization, Flared metaphysis, Ventricular septal defect, Thickened cor... OMIM:620558
Alzahrani-Kuwahara Syndrome
Coronary sinus enlargement, Long philtrum, Patent foramen ovale, Ventricular septal defect, Hypod... OMIM:619268
Aortic Arch Interruption
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Bicuspid aortic valve, ... ORPHA:2299
Digeorge Syndrome
High, narrow palate, Bifid uvula, Gastroesophageal reflux, Umbilical hernia, Tetralogy of Fallot,... OMIM:188400
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Pierson Syndrome
Hypoplasia of the iris, Rieger anomaly, Macular hypoplasia, Hypoplasia of the ciliary body, Micro... OMIM:609049
Truncus Arteriosus
Aplasia/hypoplasia involving bones of the extremities, Tetralogy of Fallot, Abnormal heart morpho... ORPHA:3384
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Penile Agenesis
Ventricular septal defect, Anal atresia, Tracheoesophageal fistula, Rectal fistula, Atrial septal... ORPHA:49
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect OMIM:610338
Sotos Syndrome
Abnormality of the dentition, Gastroesophageal reflux, Umbilical hernia, Abnormal heart morpholog... ORPHA:821
Liver Disease, Severe Congenital
Protein-losing enteropathy, Umbilical hernia, Chronic gastritis, Dilatation of the ventricular ca... OMIM:619991
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Gastroesophageal reflux, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defe... ORPHA:438213
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Aortopulmonary window, Tr... ORPHA:99050
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Johanson-Blizzard Syndrome
Colonic diverticula, Dilated cardiomyopathy, Downturned corners of mouth, Anteriorly placed anus,... OMIM:243800
Cutis Laxa, Autosomal Dominant 1
Long philtrum, Ventricular septal defect OMIM:123700
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Hydrocephalus, Microphthalmia OMIM:175780
Eisenmenger Syndrome
Bacterial endocarditis, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular canal de... ORPHA:97214
Norrie Disease
Thin vermilion border, Hypoplasia of the iris, Aplasia/Hypoplasia of the lens, Microphthalmia 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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