Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cytochrome P450, family 26, subfamily a, polypeptide 1
Synonyms:
retinoic acid hydrolase,  Cyp26,  P450RAI,  P450RA,  RAH

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Cyp26a1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cyp26a1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Sirenomelia
Anal atresia, Renal hypoplasia/aplasia, Tracheoesophageal fistula, Abnormality of the urinary sys... ORPHA:3169
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Anal atresia, Renal hypoplasia/aplasia, Ectopi... ORPHA:2345
Autosomal Recessive Spondylocostal Dysostosis
Anomalous pulmonary venous return, Cleft palate, Abnormality of the ureter, Short neck, Umbilical... ORPHA:2311
Craniorachischisis
Myelomeningocele, Anal atresia, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta,... OMIM:613686
Oeis Complex
Hydrocephalus, Labial hypoplasia, Ambiguous genitalia, female, Tethered cord, Hemivertebrae, Bifi... OMIM:258040
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad phalanx, Pectus excavatum, Atrioventricular canal defect, Short neck, Broad hallux, Cervica... ORPHA:508498
Femoral-Facial Syndrome
Vertebral segmentation defect, Coxa vara, Sprengel anomaly, Renal hypoplasia/aplasia, Talipes equ... ORPHA:1988
Vacterl/Vater Association
Abnormal cardiac septum morphology, Cleft palate, Tracheoesophageal fistula, Anencephaly, Ambiguo... ORPHA:887
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Cleft palate, Short neck, Scoliosis, Posterior rib fusion, Spina b... ORPHA:1797
Caudal Duplication
Myelomeningocele, Vertebral segmentation defect, Renal hypoplasia/aplasia, Abnormal penis morphol... ORPHA:1756
Becker Nevus Syndrome
Kyphosis, Rib fusion, Pectus excavatum, Micromelia, Scoliosis, Abnormality of tibia morphology, S... ORPHA:64755
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Clinodactyly of the 5th finger, Labial hypoplasia, Bicornuate uterus, Spin... OMIM:300707
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Bicornuate uterus, Hand oligodactyly, A... OMIM:156810
Renal Agenesis, Bilateral
Cleft palate, Renal agenesis, Tracheoesophageal fistula, Sirenomelia, Abnormal sacrum morphology,... ORPHA:1848
Caudal Regression Syndrome
Anal atresia, Hypoplastic vertebral bodies, Talipes equinovarus, Renal agenesis, Abnormal vertebr... ORPHA:3027
Doors Syndrome
High palate, Cleft palate, Hemivertebrae, Cutaneous syndactyly, 11 pairs of ribs, Sirenomelia, Op... ORPHA:79500
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Bicornuate uterus, Renal agenesis, Short neck, Aplasia/hypoplasia ... ORPHA:2578
Cloacal Exstrophy
Hemivertebrae, Bladder exstrophy, Abnormality of fibula morphology, Horseshoe kidney, Omphalocele... ORPHA:93929
Spina Bifida-Hypospadias Syndrome
Hypospadias, Spinal dysraphism, Spina bifida ORPHA:3176
Dyrk1A-Related Intellectual Disability Syndrome
Pectus excavatum, Structural foot deformity, Ventricular septal defect, Optic disc pallor, Pylori... ORPHA:464306
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Kyphosis, Short toe, Pectus excavatum, Aortic valve stenosis, Cryptorchidism, Duodenal atresia, M... ORPHA:464311
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Supernumerary vertebral ossification centers, Rib fusion... OMIM:609813
Marcus-Gunn Syndrome
Nephrolithiasis, Abnormal fifth cranial nerve morphology, Cleft palate, Abnormal heart morphology ORPHA:91412
Pelvis-Shoulder Dysplasia
Hydrocephalus, Cleft palate, Ambiguous genitalia, Absent proximal finger flexion creases, Talipes... ORPHA:2839
Poland Syndrome
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Hemivertebrae, Unilateral brac... OMIM:173800
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Hypoplastic left heart, Cleft palate, Anencephaly, Aplasia/Hypoplasia of the radius... ORPHA:2476
Joubert Syndrome 18
Kyphoscoliosis, Polydactyly, Camptodactyly, Ventricular septal defect, Horseshoe kidney OMIM:614815
Ventriculomegaly With Defects Of The Radius And Kidney
Forearm undergrowth, Hydrocephalus, Absent thumb, Renal agenesis, Ureteral duplication, Horseshoe... OMIM:602200
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Absent thumb, Hypergonadotropic hypogonadism, Tracheoesophageal fistula, Horseshoe... OMIM:227646
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Atrial septal defect, Bicornuate uterus, Inguinal hernia, Pulmonic sten... OMIM:601186
Autosomal Recessive Multiple Pterygium Syndrome
High palate, Pectus excavatum, Cleft palate, Aplasia/Hypoplasia of the abdominal wall musculature... ORPHA:2990
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Renal agenesis, Unil... OMIM:601076
Mosaic Trisomy 9
High palate, Cleft palate, Hemivertebrae, Short neck, Micromelia, Finger clinodactyly, Ventricula... ORPHA:99776
Renal Hypoplasia
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... ORPHA:93101
Miller-Dieker Lissencephaly Syndrome
Abnormality of the abdominal wall, Duodenal atresia, Clinodactyly of the 5th finger, Inguinal her... OMIM:247200
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Talipes equinovarus, Inguinal hernia, Camptodactyly, Mitral valve prolapse, Spina bifida OMIM:211960
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... OMIM:277300
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Vertebral segmentation defect, Bicuspid aortic valve, Anomalous p... ORPHA:1120
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Ventricular septal defect, Sandal... OMIM:607323
Fanconi Anemia, Complementation Group F
Duodenal atresia, Atrial septal defect, Absent thumb, Hypoplasia of the radius, 2-3 finger syndac... OMIM:603467
Pallister-Hall Syndrome
Cleft palate, Hemivertebrae, Ventricular septal defect, Y-shaped metacarpals, Anteriorly placed a... OMIM:146510
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pectus excavatum, Ventricular septal defect, Rectal prolapse, Horseshoe kidney, Pericardial lymph... OMIM:235510
Fetal Encasement Syndrome
Upper limb undergrowth, Tetralogy of Fallot, Horseshoe kidney, Lower limb undergrowth, Increased ... OMIM:613630
Juberg-Hayward Syndrome
Abnormality of finger, Hypoplasia of the radius, Hypospadias, Scoliosis, Radioulnar synostosis, H... ORPHA:2319
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Cleft palate, Horseshoe kidne... ORPHA:3320
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Duodenal atresia, Cryptorchidism, Unilateral renal agenesis, Abnormal renal collecting system mor... ORPHA:468631
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis, Hydr... OMIM:613001
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck OMIM:608681
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pectus excavatum, Atrial septal defect, Abnormal rib cage morphology, Unilateral renal agenesis, ... OMIM:608406
Acalvaria
Hydrocephalus, Cleft palate, Holoprosencephaly, Postaxial hand polydactyly, Omphalocele, Spina bi... ORPHA:945
Diabetic Embryopathy
Vertebral segmentation defect, Hydrocephalus, Renal hypoplasia/aplasia, Cleft palate, Micropenis,... ORPHA:1926
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Narrow chest, Short toe, Pectus excavatum, High palate, Camptodac... ORPHA:1327
Trisomy 20P
Abnormality of the ureter, Short neck, Platyspondyly, Umbilical hernia, Vertebral segmentation de... ORPHA:261318
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Atrial septal defect, Intestinal malrotation, Brachydactyly, Ventricular ... ORPHA:401935
Nevus Comedonicus Syndrome
Preaxial polydactyly, Scoliosis, Spina bifida occulta, Abnormal foot morphology, Abnormal vertebr... ORPHA:64754
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Overlapping toe, Atrial septal defect, Postaxial polydactyly, Preaxial polydactyly, ... OMIM:618142
Czeizel-Losonci Syndrome
Myelomeningocele, Ectrodactyly, Hydrocephalus, High palate, Split foot, Congenital megaureter, Tr... ORPHA:2437
Mulchandani-Bhoj-Conlin Syndrome
2-3 toe syndactyly, Scoliosis, Hyperlordosis, Horseshoe kidney, Clinodactyly OMIM:617352
Robinow Syndrome, Autosomal Recessive 1
Pectus excavatum, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Duplication of the... OMIM:268310
Distal Tetrasomy 15Q
High palate, Kyphosis, Hydrocephalus, Atrial septal defect, Arachnodactyly, Abnormality of the ki... ORPHA:314588
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
High palate, Overlapping toe, 2-3 toe syndactyly, Inguinal hernia, Micropenis, Scoliosis, Tapered... OMIM:618653
Oculogastrointestinal Neurodevelopmental Syndrome
Anal atresia, Bicuspid aortic valve, Hemivertebrae, Horseshoe kidney, Sacral dimple OMIM:619318
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Hypospadias, Ventricular septal defect, Pyloric stenosis, Horseshoe kidney OMIM:218350
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Posterior rib fusion, Pectus carinatum... OMIM:122600
Autosomal Recessive Robinow Syndrome
Pectus excavatum, Short neck, Pectus carinatum, Ventricular septal defect, Sandal gap, Umbilical ... ORPHA:1507
Pagod Syndrome
Renal hypoplasia/aplasia, Abnormal clavicle morphology, Hypoplastic left heart, Agonadism, Multic... ORPHA:991
Proximal 16P11.2 Microdeletion Syndrome
Rib fusion, Atrial septal defect, Cleft palate, Multicystic kidney dysplasia, Scoliosis, Abnormal... ORPHA:261197
Williams Syndrome
Abnormal cardiac septum morphology, Pectus excavatum, Tracheoesophageal fistula, Down-sloping sho... ORPHA:904
Meckel Syndrome, Type 6
Aplasia of the bladder, Hydrocephalus, Talipes equinovarus, Cleft palate, Anencephaly, Postaxial ... OMIM:612284
Multiple Pterygium Syndrome, Escobar Variant
High palate, Cleft palate, Short neck, Down-sloping shoulders, Ulnar deviation of finger, Umbilic... OMIM:265000
Juberg-Hayward Syndrome
Abnormality of toe, Horseshoe kidney, Anteriorly placed anus, Abnormality of the radial head, Apl... OMIM:216100
Hypertelorism, Microtia, Facial Clefting Syndrome
2-3 toe syndactyly, Cleft palate, Abnormality of the vertebral column, Short 5th finger, Ectopic ... OMIM:239800
Burning Mouth Syndrome
Xerostomia, Smooth tongue, Abnormal fifth cranial nerve morphology, Abnormality of somatosensory ... ORPHA:353253
Thrombocytopenia-Absent Radius Syndrome
Cleft palate, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Absent thu... OMIM:274000
Roifman-Chitayat Syndrome
Short neck, Optic atrophy, Ectopic kidney, Umbilical hernia, Short metatarsal, Short metacarpal OMIM:613328
Proteus Syndrome
Kyphosis, Clinodactyly of the 5th finger, Abnormality of finger, Ovarian neoplasm, Asymmetry of t... ORPHA:744
Vater/Vacterl Association
Tethered cord, Hypoplasia of the radius, Tracheoesophageal fistula, Radioulnar synostosis, Ventri... OMIM:192350
Split Cord Malformation
Hydrocephalus, Hemivertebrae, Horseshoe kidney, Lipomyelomeningocele, Back pain, Talipes equinova... ORPHA:573278
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Rib fusion, Anal atresia, Urethral atresia, Absent external genitalia, Inguinal hernia, Short rib... OMIM:271520
1Q44 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Hydrocephalus, Intestinal malrotation, Scoliosis... ORPHA:238769
Fibular Hemimelia
Talipes equinovalgus, Structural foot deformity, Abnormality of fibula morphology, Genu valgum, H... ORPHA:93323
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Robinow Syndrome
Tricuspid atresia, External genital hypoplasia, Hemivertebrae, Clitoral hypoplasia, Ventricular s... ORPHA:97360
Limb Body Wall Complex
Hydrocephalus, Cleft palate, Aplasia of the proximal phalanges of the hand, Anencephaly, Broad ha... ORPHA:2369
8Q24.3 Microdeletion Syndrome
Pectus excavatum, Atrioventricular canal defect, Congenital hip dislocation, Micromelia, Finger c... ORPHA:508488
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Hiatus hernia, Precocious puberty, Cleft palate, Hem... OMIM:304050
Cornelia De Lange Syndrome 1
High palate, Malrotation of colon, Hiatus hernia, Short sternum, Cleft palate, Hypoplasia of the ... OMIM:122470
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Hydrocephalus, Atrioventricular canal defect, Congenital hip dislocation... OMIM:306955
Ophthalmoplegia, External, And Myopia
Spina bifida, Absent patellar reflexes, Absent Achilles reflex OMIM:311000
Isolated Hemihyperplasia
Myelomeningocele, Asymmetry of the thorax, Inguinal hernia, Nephroblastoma, Scoliosis, Cryptorchi... ORPHA:2128
Schisis Association
Anal atresia, Cleft palate, Renal agenesis, Tracheoesophageal fistula, Anencephaly, Micromelia, O... ORPHA:63862
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Tracheoesophageal fistula, Abnormality of the humerus, Horseshoe kidney, Perineal ... ORPHA:2538
Distal Monosomy 10Q
High palate, Cleft palate, Prominent fingertip pads, Tapered finger, Sandal gap, Horseshoe kidney... ORPHA:96148
Nail-Patella Syndrome
Pectus excavatum, Cleft palate, Hematuria, Glenoid fossa hypoplasia, Hypoplastic radial head, Pro... OMIM:161200
Basal Cell Nevus Syndrome
Hydrocephalus, Cleft palate, Hemivertebrae, Down-sloping shoulders, Ovarian carcinoma, Vertebral ... OMIM:109400
Cat Eye Syndrome
Tricuspid atresia, Cleft palate, Ventricular septal defect, Horseshoe kidney, Umbilical hernia, A... OMIM:115470
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Pectus excavatum, High, narrow palate, Cleft palate, Camptodactyl... ORPHA:957
Microphthalmia, Syndromic 3
Optic nerve aplasia, Rib fusion, Butterfly vertebrae, Micropenis, Hypospadias, Hemivertebrae, Hyp... OMIM:206900
Fanconi Anemia, Complementation Group I
Atrial septal defect, Absent thumb, Hypoplasia of the radius, Short 1st metacarpal, Short neck, A... OMIM:609053
Baller-Gerold Syndrome
High palate, Hydrocephalus, Cleft palate, Hypoplasia of the radius, Hypoplasia of the ulna, Optic... OMIM:218600
Prune Belly Syndrome
Pectus excavatum, Abnormality of the ureter, Congenital hip dislocation, Aplasia of the abdominal... ORPHA:2970
Femoral-Facial Syndrome
Cleft palate, Short fourth metatarsal, Hemivertebrae, Radioulnar synostosis, Ventricular septal d... OMIM:134780
Fanconi Anemia, Complementation Group P
Absent thumb, Hypoplasia of the radius, Horseshoe kidney, Pelvic kidney, Cryptorchidism, Short thumb OMIM:613951
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib ... ORPHA:3268
Seckel Syndrome 8
Kyphoscoliosis, Ectopic kidney, Spinal cord compression OMIM:615807
Wolf-Hirschhorn Syndrome
Abnormal cardiac septum morphology, Tethered cord, Cleft palate, Optic atrophy, Sacral dimple, Ri... ORPHA:280
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
High palate, Pectus excavatum, Cleft palate, Hemivertebrae, Short neck, Shawl scrotum, Sacral dim... OMIM:213980
Fountain Syndrome
Short distal phalanx of finger, Kyphosis, Metaphyseal dysplasia, Pectus excavatum, Brachydactyly,... ORPHA:3219
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal mitral valve morphology, Kyphosis, Atrial septal defect, Abnormal form of ... ORPHA:1354
Focal Dermal Hypoplasia
Abnormal cardiac septum morphology, Ventricular septal defect, Horseshoe kidney, Umbilical hernia... ORPHA:2092
Diaphanospondylodysostosis
Myelomeningocele, Enlarged thorax, Cleft palate, Abnormal vertebral segmentation and fusion, Shor... ORPHA:66637
Microphthalmia With Limb Anomalies
High palate, Hydrocephalus, Cleft palate, Sandal gap, Horseshoe kidney, Bowing of the long bones,... ORPHA:1106
Cerebrocostomandibular Syndrome
Myelomeningocele, Kyphosis, Posterior rib gap, Clinodactyly of the 5th finger, Cleft palate, Glos... ORPHA:1393
Aplasia Cutis Congenita
Facial palsy, Spinal dysraphism, Finger syndactyly, Toe syndactyly ORPHA:1114
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Anal atresia, Overlapping toe, Atrial septal defect, Velopharyngeal insufficiency, Muscular ventr... ORPHA:363444
Pfeiffer Syndrome Type 3
High palate, Anal atresia, Aqueductal stenosis, Cleft palate, Intestinal malrotation, Small hand,... ORPHA:93260
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
2-3 toe syndactyly, Micropenis, Short neck, Broad hallux, Pes planus, Horseshoe kidney, Short foot OMIM:300860
Cenani-Lenz Syndrome
Renal hypoplasia/aplasia, High, narrow palate, Hypoplasia of the radius, Micromelia, Synostosis o... ORPHA:3258
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Hydrocele testis, High palate, Tethered cord, Tapered finger, Ventricular septal defect, Chordee,... OMIM:619522
Acro-Renal-Ocular Syndrome
Radial club hand, Hypoplasia of the ulna, Sandal gap, Horseshoe kidney, Vertebral segmentation de... ORPHA:959
Amish Lethal Microcephaly
Organic aciduria, Optic atrophy, Spina bifida, Cleft soft palate ORPHA:99742
Campomelic Dysplasia
Poorly ossified cervical vertebrae, High palate, Hydrocephalus, Cleft palate, Femoral bowing, Sho... OMIM:114290
Williams-Beuren Syndrome
Pectus excavatum, Myxomatous mitral valve degeneration, Down-sloping shoulders, Radioulnar synost... OMIM:194050
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
High palate, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Scoliosis, Horseshoe kidney ORPHA:502434
Frontal Encephalocele
Encephalocele, Spina bifida, Hydrocephalus ORPHA:1931
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta, Absence of the sacrum, Asymme... OMIM:182940
Cartilage-Hair Hypoplasia
Abnormal cardiac septum morphology, Abnormally ossified vertebrae, Aplasia/Hypoplasia of the abdo... ORPHA:175
Exstrophy-Epispadias Complex
Abnormality of the abdominal wall, Hydrocephalus, Abnormality of the ureter, Bifid uterus, Bladde... ORPHA:322
Feingold Syndrome Type 1
Tricuspid atresia, Tricuspid stenosis, Horseshoe kidney, Abnormal heart morphology, Anal atresia,... ORPHA:391641
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Prominent fingertip pads, Brachydactyly, Dilatation of renal calices, Pes planus, Pes valgus, Bra... ORPHA:466950
Vacterl Association With Hydrocephalus
Anal atresia, Hydrocephalus, Aqueductal stenosis, Absent thumb, Radial club hand, Abnormality of ... OMIM:276950
15Q Overgrowth Syndrome
High palate, Overlapping toe, Hydrocephalus, Clinodactyly of the 5th finger, Contracture of the p... ORPHA:314585
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Abnormality of the kidney, Cryptorchidism, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Metatropic Dysplasia
Narrow chest, Kyphosis, Hydrocephalus, Clinodactyly of the 5th finger, Cleft palate, Camptodactyl... ORPHA:2635
Vacterl With Hydrocephalus
Anal atresia, Hydrocephalus, Renal hypoplasia/aplasia, Aqueductal stenosis, Inguinal hernia, Hypo... ORPHA:3412
Fanconi Anemia
High palate, Abnormality of femur morphology, Hydrocephalus, Abnormal cardiac septum morphology, ... ORPHA:84
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Mitral stenosis, Butterfly vertebrae, Atrial septal defect, Aortic valve stenosis, Hypoplastic le... OMIM:617660
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Cerebrocostomandibular Syndrome
High palate, Rib gap, Congenital hip dislocation, 11 pairs of ribs, Ventricular septal defect, Ho... OMIM:117650
Short Stature Syndrome, Brussels Type
Horseshoe kidney OMIM:601350
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral segmentation defect, Unilateral renal agenesis, Abnormality of the kidney, Abnormal for... ORPHA:3109
Pallister-Hall Syndrome
Cleft palate, Atrioventricular canal defect, Hemivertebrae, Ventricular septal defect, Ambiguous ... ORPHA:672
Aicardi Syndrome
Bifid ribs, Rib fusion, Malabsorption, Butterfly vertebrae, Hiatus hernia, Precocious puberty, Cl... ORPHA:50
Musculocontractural Ehlers-Danlos Syndrome
High palate, Nephrolithiasis, Kyphoscoliosis, Atlantoaxial dislocation, Cleft palate, Slender fin... ORPHA:2953
Waardenburg Syndrome Type 1
Sprengel anomaly, Cleft palate, Scoliosis, Meningocele, Spina bifida, Aganglionic megacolon ORPHA:894
Triploidy
Narrow chest, Abnormal cardiac septum morphology, Hydrocephalus, Hypoplasia of penis, Cleft palat... ORPHA:3376
Schizophrenia 1
Partially duplicated kidney, Short proximal phalanx of the 4th toe, Renal agenesis, Syndactyly, E... OMIM:181510
Acces Syndrome
Ectrodactyly, Clinodactyly of the 5th finger, Split foot, Tracheoesophageal fistula, Horseshoe ki... OMIM:619959
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Micropenis, Unilateral renal agenesis, Pes cavus, Sensory axonal neuropathy, Lim... OMIM:616541
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... OMIM:603546
Trisomy 18
Anal atresia, Narrow palate, Atrial septal defect, Cleft palate, Holoprosencephaly, Abnormality o... ORPHA:3380
Jacobsen Syndrome
Short neck, Ventricular septal defect, Pyloric stenosis, Ectopic anus, Long hallux, Toe clinodact... ORPHA:2308
Ssr4-Cdg
Scoliosis, Horseshoe kidney ORPHA:370927
Iniencephaly
Myelomeningocele, Anal atresia, Hydrocephalus, Duodenal atresia, Talipes equinovarus, Holoprosenc... ORPHA:63259
Distal Monosomy 13Q
Abnormal cardiac septum morphology, Anal atresia, Renal hypoplasia/aplasia, Holoprosencephaly, An... ORPHA:1590
Kabuki Syndrome
High palate, Abnormal cardiac septum morphology, Hydrocephalus, Cleft palate, Hemivertebrae, Prec... ORPHA:2322
Tarp Syndrome
High palate, Talipes equinovarus, Cleft palate, Postaxial polydactyly, Glossoptosis, Hypoplasia o... OMIM:311900
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Sclerotic v... ORPHA:2790
Short Stature, Brussels Type
Horseshoe kidney ORPHA:2867
Hypertelorism-Microtia-Facial Clefting Syndrome
Median cleft lip and palate, Crossed fused renal ectopia, Horseshoe kidney ORPHA:2213
Bardet-Biedl Syndrome 21
Postaxial hand polydactyly, Horseshoe kidney OMIM:617406
Acrofacial Dysostosis 1, Nager Type
Hydrocephalus, Absent thumb, Cleft palate, Hypoplasia of the radius, Radioulnar synostosis, Broad... OMIM:154400
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Cleft palate, Scoliosis, Tetralogy of Fallot, Ventricular septal d... OMIM:612562
Townes-Brocks Syndrome
Abnormal cardiac septum morphology, Ulnar deviation of finger, Anteriorly placed anus, Absent toe... ORPHA:857
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
High palate, Slender finger, Muscular ventricular septal defect, Tapered finger, Ventricular sept... OMIM:619503
Lumbar Syndrome
Myelomeningocele, Anal atresia, Ectopic anus, Micropenis, Renal agenesis, Hypospadias, Bifid scro... ORPHA:83628
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Severe platyspondyly, Horseshoe kidney, Sacral dimple, Increased intervertebral space, Broad phal... ORPHA:508533
Axial Mesodermal Dysplasia Spectrum
Vertebral segmentation defect, Anal atresia, Hydrocephalus, Renal hypoplasia/aplasia, Tracheoesop... ORPHA:1834
Lathosterolosis
High palate, Hypoplasia of penis, Postaxial hand polydactyly, Meningocele, Postaxial foot polydac... ORPHA:46059
Diphallia
Anal atresia, Butterfly vertebrae, Atrial septal defect, Distal urethral duplication, Absent thum... ORPHA:227
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Short neck, Platyspondyly, Ventricular septal defect,... ORPHA:93267
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beaking of lumbar ... OMIM:253000
Orofaciodigital Syndrome V
High palate, Cleft palate, Postaxial polydactyly, Bifid tongue, Scoliosis, Bifid uvula, Lobulated... OMIM:174300
Anophthalmia Plus Syndrome
Vertebral segmentation defect, Cleft palate, Deviation of finger, Bilateral cleft lip and palate,... ORPHA:1104
1P36 Deletion Syndrome
Abnormal cardiac septum morphology, 11 pairs of ribs, Optic atrophy, Pyloric stenosis, Hypogonadi... ORPHA:1606
Metatropic Dysplasia
Platyspondyly, Hyperplasia of the femoral trochanters, Flared humeral metaphysis, Flared femoral ... OMIM:156530
Bartsocas-Papas Syndrome 1
Absent thumb, Cleft palate, Short neck, Ambiguous genitalia, Omphalocele, Hypoplastic male extern... OMIM:263650
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hydrocele testis, Pectus excavatum, Cleft palate, Pectus carinatum, Broad hallux, Pyloric stenosi... ORPHA:261537
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... OMIM:265380
Chromosome 1P36 Deletion Syndrome, Distal
High palate, Hydrocephalus, Abnormal external genitalia, 11 pairs of ribs, Optic disc coloboma, V... OMIM:607872
Mosaic Trisomy 16
Abnormal heart morphology, Atrial septal defect, Hypospadias, Syndactyly, Short femoral neck, Sho... ORPHA:1708
Seckel Syndrome 2
Hypospadias, Microglossia, Clinodactyly of the 5th finger, Ectopic kidney OMIM:606744
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Cleft palate, Holoprosencephaly, Anencephaly, Micromelia, Tetralogy of Fallot, Ven... ORPHA:1908
Papillorenal Syndrome
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi... OMIM:120330
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hydrocele testis, Pectus excavatum, Cleft palate, Pectus carinatum, Broad hallux, Ventricular sep... ORPHA:261552
Mowat-Wilson Syndrome
Hydrocele testis, Abnormal cardiac septum morphology, Pectus excavatum, Cleft palate, Tapered fin... ORPHA:2152
Cerebrofaciothoracic Dysplasia
Vertebral segmentation defect, Rib fusion, Sprengel anomaly, Narrow chest, Bifid ribs, Cleft pala... ORPHA:1394
Gastroschisis
Gastroschisis, Abdominal wall defect OMIM:230750
12Q14 Microdeletion Syndrome
Clinodactyly of the 5th finger, Intestinal malrotation, Scoliosis, Renal hypoplasia, Horseshoe ki... ORPHA:94063
Zttk Syndrome
High palate, Kyphosis, Rib fusion, Atrial septal defect, Intestinal atresia, Small hand, Unilater... OMIM:617140
Thoraco-Abdominal Enteric Duplication
Duodenal stenosis, Intestinal malrotation, Camptodactyly of finger, Dextrocardia, Missing ribs, D... ORPHA:1759
Autosomal Recessive Spastic Paraplegia Type 23
Hip dislocation, Kyphoscoliosis, Horseshoe kidney ORPHA:101003
Beaulieu-Boycott-Innes Syndrome
Velopharyngeal insufficiency, Unilateral renal agenesis, Recurrent urinary tract infections, Vent... OMIM:613680
Mosaic Trisomy 20
Spinal canal stenosis, Abnormal mitral valve morphology, Vertebral segmentation defect, Kyphosis,... ORPHA:1724
Mosaic Trisomy 14
Narrow chest, High palate, Ectopic anus, Hypoplasia of penis, Cleft palate, Hypospadias, Camptoda... ORPHA:1703
Teebi-Shaltout Syndrome
Ulnar deviation of the hand, Aortic valve stenosis, High, narrow palate, Cleft palate, Talipes eq... OMIM:272950
Coffin-Siris Syndrome 1
High palate, Short sternum, Prominent fingertip pads, Cleft palate, Ventricular septal defect, Sa... OMIM:135900
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Pontine Tegmental Cap Dysplasia
Rib fusion, Ankle clonus, Hemivertebrae, Scoliosis, Facial palsy OMIM:614688
Congenital Disorder Of Glycosylation, Type Iig
Vertebral segmentation defect, High palate, Butterfly vertebrae, Talipes equinovarus, Cleft palat... OMIM:611209
Intellectual Developmental Disorder, X-Linked 99
Broad hallux, Hypospadias, Broad thumb, Ectopic kidney OMIM:300919
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Brachydactyly, Ventricular septal defect, Pes planus, Hallux valgus, Horseshoe kidney, Renal cyst... ORPHA:166035
Constricting Bands, Congenital
Talipes equinovarus, Abnormal rib cage morphology, Cleft palate, Syndactyly, Scoliosis, Bladder e... OMIM:217100
Kbg Syndrome
Rib fusion, Clinodactyly of the 5th finger, Cryptorchidism, Ulnar deviation of the 2nd finger, Cu... OMIM:148050
Wolf-Hirschhorn Syndrome
Hydrocephalus, Tethered cord, Cleft palate, Malrotation of small bowel, Radioulnar synostosis, Ve... OMIM:194190
Lateral Meningocele Syndrome
High palate, Kyphosis, Bicuspid aortic valve, Pectus excavatum, Abnormal rib cage morphology, Ing... OMIM:130720
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
High palate, Hypoplasia of the radius, Short neck, Hypoplasia of the ulna, Horseshoe kidney, Tali... OMIM:609945
Duane Retraction Syndrome
Talipes equinovarus, Cleft palate, Hypoplasia of the radius, Absent radius, Abnormal vertebral se... ORPHA:233
22Q11.2 Deletion Syndrome
Tricuspid atresia, Hydrocephalus, Cleft palate, Short neck, Ventricular septal defect, Optic atro... ORPHA:567
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Pectus excavatum, Prominent fingertip pads, Pectus carinatum, Ventricular septal d... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Pectus excavatum, Prominent fingertip pads, Pectus carinatum, Ventricular septal d... ORPHA:363958
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Abnormal cardiac septum morphology, Labial hypoplasia, Clinodactyly of the 5th finger, Anal atres... ORPHA:140952
Orofaciodigital Syndrome Type 5
High, narrow palate, Ectopic accessory finger-like appendage, Bifid tongue, Crossed fused renal e... ORPHA:2919
Specc1L-Related Hypertelorism Syndrome
Short toe, Clinodactyly of the 5th finger, Atrial septal defect, Pectus excavatum, Brachydactyly,... ORPHA:1519
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic pulmonary valve, Hypospadias, Recurrent urinary tract infections, Ventricular septal d... OMIM:619103
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Brachydactyly, Dilatation of renal calices, Pes planus, Pes valgus, Pelvic kidney, Short palm ORPHA:466943
Gm1 Gangliosidosis
Kyphosis, Inguinal hernia, Macroglossia, Abnormality of the scrotum, Camptodactyly of finger, Pla... ORPHA:354
Fanconi Anemia, Complementation Group C
Absent thumb, Renal agenesis, Hypergonadotropic hypogonadism, Short thumb, Ventricular septal def... OMIM:227645
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Rib fusion, Tapered toe, Clinodactyly of the 5th finger, Inguinal hernia, Tapered finger, Bilater... ORPHA:544488
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Upper limb undergrowth, Optic atrophy, Flared, irregular rib ends, Thoracic hypopl... ORPHA:168549
Distal Monosomy 12Q
Short neck, Long foot, Pyloric stenosis, Broad hallux, Clinodactyly of the 5th finger, Congenital... ORPHA:96149
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Kyphosis, Aortic valve stenosis, Prominent ste... OMIM:253010
Pelvic Lipomatosis With Crossed Renal Ectopia
Ectopic kidney OMIM:169545
Fanconi Anemia, Complementation Group A
Absent thumb, Renal agenesis, Hypergonadotropic hypogonadism, Short thumb, Abnormal renal morphol... OMIM:227650
Townes-Brocks Syndrome 2
Anal atresia, Hypospadias, Bifid uterus, Crossed fused renal ectopia, Scoliosis, Spina bifida occ... OMIM:617466
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Absence of renal corticomedullary differentiation, Micropenis, Unilateral renal agenesis, Renal a... OMIM:617641
Wildervanck Syndrome
Short neck, Pseudopapilledema, Fused cervical vertebrae, Meningocele, Facial palsy ORPHA:3456
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormal rib morphology, Hydrocephalus, Meckel diverticulum OMIM:300864
Trisomy 13
Narrow chest, Ectrodactyly, Kyphosis, Atrial septal defect, High, narrow palate, Cleft palate, Ab... ORPHA:3378
Lathosterolosis
Myelomeningocele, High palate, Butterfly vertebrae, Talipes equinovarus, Postaxial hand polydacty... OMIM:607330
Poland Syndrome
Hemivertebrae, Short neck, Abnormality of the humerus, Pectus carinatum, Encephalocele, Vertebral... ORPHA:2911
Gastroschisis
Intestinal atresia, Gastroschisis ORPHA:2368
Fanconi Anemia, Complementation Group E
Absent thumb, Renal agenesis, Hypergonadotropic hypogonadism, Short thumb, Duplicated collecting ... OMIM:600901
Septopreoptic Holoprosencephaly
Precocious puberty, Ethmoidal encephalocele, Abnormal rib morphology, Anteriorly placed anus, Abn... ORPHA:280195
Fryns Microphthalmia Syndrome
Bilateral cleft lip and palate, Abnormality of the vertebral column, Neural tube defect OMIM:600776
Pseudoaminopterin Syndrome
High palate, Overlapping toe, Hydrocephalus, Clinodactyly of the 5th toe, Slender finger, Postaxi... ORPHA:221120
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Tracheoesophageal fistula, Ventricular septal defect, Bifid thoracic vertebrae, Ec... ORPHA:268249
Trisomy 1Q
Anal atresia, Hydrocephalus, Cleft palate, Congenital megaureter, Arachnodactyly, Small scrotum, ... ORPHA:261344
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Jeune Syndrome
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Nephronophthisis, Brachy... ORPHA:474
Tarp Syndrome
Hypoplasia of proximal radius, Atrial septal defect, Talipes equinovarus, Cleft palate, Postaxial... ORPHA:2886
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Split foot, Spina bifida occulta, Thoracolumbar scoliosis, Hydro... OMIM:183802
Smith-Lemli-Opitz Syndrome
Cleft palate, Atrioventricular canal defect, Short neck, Ulnar deviation of finger, Ventricular s... ORPHA:818
Hallermann-Streiff Syndrome
High palate, Pectus excavatum, Narrow palate, Abnormal rib cage morphology, Thin ribs, High, narr... OMIM:234100
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Optic atrophy, Diaphyseal thickening ORPHA:1513
Otopalatodigital Syndrome Type 2
Abnormal cardiac septum morphology, Hydrocephalus, Cleft palate, Ureteral obstruction, Bowing of ... ORPHA:90652
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Inguinal hernia, Unilateral chest hypoplasia, Unilateral renal agenesis, Cleft palate, Multicysti... OMIM:308205
Kinsship Syndrome
Dislocated radial head, Short neck, Scoliosis, Polydactyly, Mesomelia, Pes planus, Renal hypoplas... OMIM:619297
Lateral Meningocele Syndrome
High palate, Kyphosis, Pectus excavatum, High, narrow palate, Inguinal hernia, Short neck, Scolio... ORPHA:2789
3Q29 Microdeletion Syndrome
High palate, Clinodactyly of the 5th finger, Hypospadias, Tapered finger, Six lumbar vertebrae, S... ORPHA:65286
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Hydrocephalus, Urethral atresia, Atrioventricular canal defect, Hand polydactyly, T... OMIM:314390
Kabuki Syndrome 2
High palate, Atrial septal defect, Cleft palate, Atrioventricular canal defect, Pulmonic stenosis... OMIM:300867
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Abnormal penis morphology, Preaxial hand polydactyly, Broad hallux phalanx, Hyposp... ORPHA:2211
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Male pseudohermaphroditism, Short neck, Cervical spina bifida OMIM:600122
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Clinodactyly of the 5th finger, High, narrow palate, Hypospadias, Scoliosis, Brachydactyly, Synda... ORPHA:96182
Chops Syndrome
Cervical C2/C3 vertebral fusion, Anomalous pulmonary venous return, High, narrow palate, Brachyda... OMIM:616368
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Short neck, Anencephaly, Lobulated tongue, Ventricular septal defect, Ambiguous ge... OMIM:269860
White Forelock With Malformations
Sprengel anomaly, Clinodactyly of the 5th finger, Atrial septal defect, Spina bifida occulta, Abn... ORPHA:2475
Fanconi Anemia, Complementation Group U
Absent thumb, Hypoplasia of the radius, Absent scaphoid, Unilateral facial palsy, Patent ductus a... OMIM:617247
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Syringomyelia, Spina bifida, Cervical myelopathy OMIM:207950
Meacham Syndrome
Abnormal vagina morphology, Anomalous pulmonary venous return, Atrial septal defect, Hypoplasia o... ORPHA:3097
Currarino Syndrome
Anterior sacral meningocele, Anal atresia, Hemisacrum, Anal fistula, Bifid sacrum, Recurrent urin... OMIM:176450
15q26 overgrowth syndrome
High palate, Abnormality of finger, Abnormality of toe, Arachnodactyly, Renal agenesis, Camptodac... DECIPHER:81
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Achondrogenesis Type 1B
Narrow chest, Talipes equinovarus, Short neck, Micromelia, Abnormal rib morphology, Femoral herni... ORPHA:93298
Diamond-Blackfan Anemia 10
Cleft palate, Renal duplication, Ventricular septal defect, Patent ductus arteriosus, Ectopic kid... OMIM:613309
X-Linked Intellectual Disability, Snyder Type
High palate, Kyphosis, Kyphoscoliosis, Testicular atrophy, Pectus excavatum, Cleft palate, Arachn... ORPHA:3063
Sprengel Deformity
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... OMIM:184400
Schimmelpenning-Feuerstein-Mims Syndrome
Kyphoscoliosis, Abnormality of finger, Abnormality of toe, Horseshoe kidney, Hyperphosphaturia OMIM:163200
Faciocardiorenal Syndrome
Cleft palate, Hydroureter, Scoliosis, Endocardial fibroelastosis, Broad hallux, Horseshoe kidney,... OMIM:227280
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short distal phalanx of finger, Metaphyseal dysplasia, Brachydactyly, Ventricular septal defect, ... OMIM:250410
Holt-Oram Syndrome
Anomalous pulmonary venous return, Pectus excavatum, Abnormal clavicle morphology, Absent thumb, ... ORPHA:392
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Hypospadias, Abnormality of the ureter,... ORPHA:2522
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal 5th metacarpal morphology, Rhizomelic arm shortening, Abnormal optic disc morphology, Tw... ORPHA:397715
Igg4-Related Ophthalmic Disease
Prostatitis, Orchitis, Sialadenitis, Abnormality of the kidney, Abnormal fifth cranial nerve morp... ORPHA:449563
Chilton-Okur-Chung Neurodevelopmental Syndrome
Pectus excavatum, Slender finger, Short fourth metatarsal, Broad finger, Tapered finger, Ankylogl... OMIM:619841
Pentalogy Of Cantrell
Hydrocephalus, Abnormal sternum morphology, Atrial septal defect, Abnormal pericardium morphology... ORPHA:1335
Holoprosencephaly
Hydrocephalus, Short neck, Ventricular septal defect, Optic atrophy, Median cleft lip and palate,... ORPHA:2162
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Rib fusion, Atrial septal defect, Muscular ventricular septal defect, Brachyda... OMIM:157800
3Mc Syndrome 2
Cleft palate, Hypospadias, Abnormality of the vertebral column, Radioulnar synostosis, Caudal app... OMIM:265050
Melnick-Needles Syndrome
Short distal phalanx of finger, Abnormal cardiac septum morphology, Cone-shaped epiphyses of the ... ORPHA:2484
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Hypoplastic left heart, Micromelia, Ventricular septal defect, Ambiguous gen... ORPHA:2772
3Mc Syndrome 3
Cleft palate, Micropenis, Preaxial polydactyly, Radioulnar synostosis, Penoscrotal hypospadias, H... OMIM:248340
Focal Dermal Hypoplasia
Hydrocephalus, Hiatus hernia, Cleft palate, Congenital hip dislocation, Horseshoe kidney, Umbilic... OMIM:305600
Neu-Laxova Syndrome 2
High palate, Cleft palate, Short neck, Scoliosis, Rocker bottom foot, Spina bifida, Finger syndac... OMIM:616038
Tetrasomy 9P
High palate, Abnormal mitral valve morphology, Hydrocephalus, Abnormal cardiac septum morphology,... ORPHA:3310
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Bladder exstrophy, Horseshoe kidney, Anteriorly placed an... OMIM:600057
Waardenburg Syndrome, Type 1
Myelomeningocele, Sprengel anomaly, Supernumerary ribs, Supernumerary vertebrae, Aplasia of the v... OMIM:193500
Radial-Renal Syndrome
Unilateral renal agenesis, Absent radius, Ectopic kidney, Absent thumb OMIM:179280
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Hypospadias, Tetralogy of Fallot, Abnormal rib morphology, Ambiguou... ORPHA:276422
Cog1-Cdg
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Butterfly vertebrae, Talipes equinovar... ORPHA:263508
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Short distal phalanx of finger, Hydrocephalus, Macroglossia, Short neck, Brachy... ORPHA:1914
Charge Syndrome
Cleft palate, Tracheoesophageal fistula, Hemivertebrae, Ventricular septal defect, Hypoplasia of ... OMIM:214800
Charge Syndrome
Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Aqueductal stenosis, Cleft pa... ORPHA:138
15Q24 Microdeletion Syndrome
Myelomeningocele, Kyphosis, Anal atresia, Abnormality of toe, Intestinal atresia, Small hand, Hyp... ORPHA:94065
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, External genital hypoplasia, A... ORPHA:96334
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, High palate, Hydrocephalus, Hemivertebrae, Brachydactyly, Scoliosis, Abnormal f... ORPHA:2180
Neu-Laxova Syndrome 1
Cleft palate, Bifid uterus, Short neck, Micromelia, Small placenta, Ventricular septal defect, Ro... OMIM:256520
Diastrophic Dysplasia
Kyphosis, Hypoplastic cervical vertebrae, Abnormal clavicle morphology, Cleft palate, Camptodacty... ORPHA:628
Faciocardiorenal Syndrome
Tricuspid valve prolapse, Horseshoe kidney, Cleft palate, Endocardial fibroelastosis ORPHA:1973
Meckel Syndrome, Type 4
Hydrocephalus, Atrial septal defect, Cleft palate, Anencephaly, Postaxial hand polydactyly, Ventr... OMIM:611134
Phaver Syndrome
Myelomeningocele, Butterfly vertebrae, Broad hallux phalanx, Camptodactyly of finger, Abnormal fo... ORPHA:2876
Alagille Syndrome
Short distal phalanx of finger, Vertebral segmentation defect, Clinodactyly of the 5th finger, Ne... ORPHA:52
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Hypoplasia of penis, Her... ORPHA:3082
Meckel Syndrome, Type 2
Cleft palate, Intestinal malrotation, Anencephaly, Polydactyly, Postaxial hand polydactyly, Renal... OMIM:603194
Netherton Syndrome
Malabsorption, Ectopic kidney, Hydronephrosis, Aminoaciduria ORPHA:634
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Cleft palate, Unilateral renal agenesis, Abnor... OMIM:118100
Renal And Mullerian Duct Hypoplasia
Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney OMIM:266810
Neurofibromatosis, Type I
Hydrocephalus, Pectus excavatum, Plexiform neurofibroma, Aqueductal stenosis, Pheochromocytoma, S... OMIM:162200
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Nephroblastoma, Scoliosis, Spinal dysraphism, Renal hypoplasia, Sandal gap, Lower ... OMIM:612918
Rubinstein-Taybi Syndrome 1
High palate, Pectus excavatum, Prominent fingertip pads, Cleft palate, Premature thelarche, Broad... OMIM:180849
Turner Syndrome Due To Structural X Chromosome Anomalies
High palate, Pectus excavatum, Short sternum, Short neck, Irregular proximal tibial epiphyses, Hi... ORPHA:99413
Turner Syndrome
High palate, Pectus excavatum, Short sternum, Short neck, Irregular proximal tibial epiphyses, Hi... ORPHA:881
Mosaic Monosomy X
High palate, Pectus excavatum, Short sternum, Short neck, Irregular proximal tibial epiphyses, Hi... ORPHA:99228
Monosomy X
High palate, Pectus excavatum, Short sternum, Short neck, Irregular proximal tibial epiphyses, Hi... ORPHA:99226
Roberts-Sc Phocomelia Syndrome
High palate, Hydrocephalus, Cleft palate, Talipes equinovalgus, Short neck, Long penis, Ventricul... OMIM:268300
Neu-Laxova Syndrome
External genital hypoplasia, Cleft palate, Micromelia, Scoliosis, Bifid uvula, Large hands, Ambig... ORPHA:2671
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, M... OMIM:607778
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Rib fusion, Kyphoscoliosis, Lumbar hyperlordosis, Atrial septal defect, Absent thumb, Cleft palat... ORPHA:500150
Cooper-Jabs Syndrome
Camptodactyly of finger, Scoliosis, Ventricular septal defect, Abnormal rib morphology, Missing r... ORPHA:1488
Laryngotracheoesophageal Cleft Type 4
Abnormal cardiac septum morphology, Intestinal atresia, Tracheoesophageal fistula, Abnormal form ... ORPHA:93941
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Cleft palate, Adducted thumb, Short femur, Micropenis, Flared metaphy... OMIM:616897
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Aqueductal stenosis, Abnormally ossified vertebrae, Intestinal malr... ORPHA:3035
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Hemivertebrae, Short neck, Abnormal form of the vertebral bodies, Abnormal r... ORPHA:2234
Tetraamelia-Multiple Malformations Syndrome
Anal atresia, Hydrocephalus, Abnormally ossified vertebrae, Multicystic kidney dysplasia, Abnorma... ORPHA:3301
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Inguinal hernia, Ovoid thoracolumbar vertebrae, Heparan sulfate excretion in urin... OMIM:252900
Brachytelephalangic Chondrodysplasia Punctata
C1-C2 subluxation, Ventricular septal defect, Epiphyseal stippling of toe phalanges, Cervical ver... ORPHA:79345
Cantú Syndrome
Short distal phalanx of finger, Narrow chest, Deep plantar creases, Hypertrophic cardiomyopathy, ... ORPHA:1517
Dextrocardia
Hydrocephalus, Intestinal malrotation, Abnormality of the ureter, Congenital hip dislocation, Abn... ORPHA:1666
45,X/46,Xy Mixed Gonadal Dysgenesis
High palate, Ambiguous genitalia, female, Pectus excavatum, Streak ovary, Ambiguous genitalia, Ho... ORPHA:1772
Kabuki Syndrome 1
High palate, Hydrocephalus, Prominent fingertip pads, Cleft palate, Premature thelarche, Congenit... OMIM:147920
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hemivertebrae, Hypospadias, Tracheoesophag... ORPHA:77298
Matthew-Wood Syndrome
Vesicoureteral reflux, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis ORPHA:2470
Cat-Eye Syndrome
Anal atresia, Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormal localization of kidney,... ORPHA:195
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
High palate, Cervical C2/C3 vertebral fusion, Hypoplasia of proximal radius, Macroglossia, Glosso... ORPHA:444077
Hennekam Syndrome
Narrow chest, Malabsorption, Camptodactyly of finger, Pyloric stenosis, Abnormal foot morphology,... ORPHA:2136
Hemihyperplasia, Isolated
Myelomeningocele, Nephroblastoma, Scoliosis OMIM:235000
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow chest, Anal atresia, Cryptorchidism, Cleft palate, Postaxial polydactyly, Preaxial polydac... OMIM:616300
Mucopolysaccharidosis, Type X
Nephrolithiasis, Beaking of vertebral bodies, Aortic valve stenosis, Left ventricular hypertrophy... OMIM:619698
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Clinodactyly of the 5th finger, Hypoplasia of penis, Hypogonadotropic hypogonadism, Tracheoesopha... ORPHA:3068
Blepharocheilodontic Syndrome 1
Anal atresia, Cutaneous syndactyly, Clinodactyly, Neural tube defect OMIM:119580
Craniofacial Microsomia
Hydrocephalus, Cleft palate, Renal agenesis, Partial duplication of thumb phalanx, Hemivertebrae,... OMIM:164210
Hurler Syndrome
Spinal canal stenosis, Hydrocephalus, Abnormal clavicle morphology, Macroglossia, Abnormal nerve ... ORPHA:93473
Fibrochondrogenesis 1
Cleft palate, Short neck, Platyspondyly, Rhizomelia, Omphalocele, Dumbbell-shaped long bone, Post... OMIM:228520
Coffin-Siris Syndrome
Atrial septal defect, Hypospadias, Scoliosis, Short 5th finger, Tetralogy of Fallot, Ventricular ... ORPHA:1465
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Platyspondyly, Synostosis of carpal bones, Micromelia, Upper limb undergrowth, Pectus ... ORPHA:93351
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal agenesis, Hypospadias, Multicystic kidney dysplasia, Pyloric stenosis, Renal Fanconi syndro... ORPHA:93111
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Short neck, Platyspondyly, Scoliosis, Pectus carinatum, Hyperlor... ORPHA:582
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Tethered cord, Atrioventricular canal defect, Scoliosis, Bifid uvula, Tapered finger, Unilateral ... OMIM:619480
Mucopolysaccharidosis, Type Vi
Hydrocephalus, Prominent sternum, Pectus carinatum, Genu valgum, Broad ribs, Ovoid vertebral bodi... OMIM:253200
C Syndrome
High palate, Dislocated radial head, Clinodactyly of the 5th finger, Renal hypoplasia/aplasia, Cl... ORPHA:1308
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft palate, Femoral bowing, Short digit, Enlarged kidney, Hypoplasia of the ulna, Ambiguous gen... OMIM:613091
Coffin-Siris Syndrome 12
High palate, Velopharyngeal insufficiency, Slender finger, Hypospadias, Cutaneous syndactyly, Sco... OMIM:619325
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... ORPHA:1836
Congenital Vertical Talus
Myelomeningocele, Equinus calcaneus, Abnormality of the foot musculature, Pes planus, Pes valgus,... ORPHA:178382
Fryns Syndrome
Prominent fingertip pads, Cleft palate, Short neck, Ventricular septal defect, Broad ribs, Omphal... OMIM:229850
Blackfan-Diamond Anemia
High palate, Atrial septal defect, Absent thumb, Renal agenesis, Partial duplication of thumb pha... ORPHA:124
Osteopathia Striata With Cranial Sclerosis
High palate, Hydrocephalus, Pectus excavatum, Cleft palate, Ventricular septal defect, Broad ribs... OMIM:300373
Trisomy 8Q
Myelomeningocele, High palate, Hypoplasia of penis, Cleft palate, Camptodactyly of finger, Short ... ORPHA:1752
Craniosynostosis, Herrmann-Opitz Type
Cleft palate, Abnormality of the upper urinary tract, Abnormality of the urethra, Brachydactyly, ... ORPHA:2145
Acro-Renal-Mandibular Syndrome
High palate, Abnormal clavicle morphology, Aplasia/Hypoplasia of the tongue, Hypoplasia of the ra... ORPHA:958
Muscle-Eye-Brain Disease
Optic atrophy, Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:588
Simpson-Golabi-Behmel Syndrome
Pectus excavatum, Cleft palate, Aplasia/Hypoplasia of the abdominal wall musculature, Congenital ... ORPHA:373
Renpenning Syndrome
Sprengel anomaly, Anal atresia, Pectus excavatum, Clinodactyly of the 5th finger, High, narrow pa... ORPHA:3242
Sacral Defect With Anterior Meningocele
Myelomeningocele, Anterior sacral meningocele, Hydrocephalus, Hemisacrum, Back pain, Tethered cor... OMIM:600145
Short Rib-Polydactyly Syndrome
Nephronophthisis, Cleft palate, Micromelia, Bowing of the long bones, Thoracic hypoplasia, Abnorm... ORPHA:1505
Shprintzen-Goldberg Craniosynostosis Syndrome
High palate, Hydrocephalus, Pectus excavatum, Pectus carinatum, Genu valgum, Umbilical hernia, Ge... OMIM:182212
Fibrochondrogenesis
Narrow chest, Cleft palate, Short ribs, Camptodactyly of finger, Short neck, Brachydactyly, Micro... ORPHA:2021
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Coat hanger sign of ribs, Large placenta, Ventricular septal defect, Umbilical h... ORPHA:254534
Alg3-Cdg
High palate, Metaphyseal chondrodysplasia, Macroglossia, Abnormality of limb bone morphology, Neu... ORPHA:79321
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cleft palate, Platyspondyly, Pectus carinatum, Ventricular septal defect, Ambiguous genitalia, Sh... OMIM:263520
Phocomelia, Schinzel Type
Cleft palate, Hypoplasia of the radius, Tracheoesophageal fistula, Short neck, Micromelia, Aplasi... ORPHA:2879
Frontometaphyseal Dysplasia 1
High palate, Cleft palate, Increased density of long bone diaphyses, Scapular winging, Long foot,... OMIM:305620
Dysosteosclerosis
Irregular vertebral endplates, Narrow chest, High palate, Abnormal metaphyseal trabeculation, Hyp... OMIM:224300
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Carpal synostosis, Chordee, Vesicovaginal fistula, Humeroradial synostosis, Micropenis, Arachnoda... OMIM:201750
Myhre Syndrome
Abnormal cardiac septum morphology, Precocious puberty, External genital hypoplasia, Inguinal her... ORPHA:2588
Achondrogenesis, Type Ia
Hypoplastic sacrum, Hypoplasia of the radius, Barrel-shaped chest, Short neck, Micromelia, Severe... OMIM:200600
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hydrocephalus, Abnormal external genitalia, Femoral bowing, Radioulnar synostosis, Ambiguous geni... ORPHA:95699
Greenberg Dysplasia
Anterior rib punctate calcifications, Short metacarpal, Horizontal sacrum, Barrel-shaped chest, P... OMIM:215140
Duplication Of Urethra
Uterus didelphys, Clitoral hypertrophy, Rectourethral fistula, Bladder duplication, Chordee, Anal... ORPHA:237
Lethal Congenital Contracture Syndrome 10
Narrow chest, High palate, Thoracic scoliosis, Talipes equinovarus, Narrow palate, Adducted thumb... OMIM:617022
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
High palate, Prominent sternum, Hypoplasia of the radius, Femoral bowing, Hemivertebrae, Short ne... OMIM:276820
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the tongue, Arachnodactyly, Hemivertebrae, ... ORPHA:2759
Mosaic Trisomy 8
Vertebral segmentation defect, Narrow chest, High palate, Clinodactyly of the 5th finger, Deep pl... ORPHA:96061
Non-Syndromic Anorectal Malformation
Myelomeningocele, Anal atresia, Ectopic anus, Hemisacrum, Rectal fistula, Tethered cord, Hypospad... ORPHA:557
46,Xy Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Chordee, Abnormality of the clitoris, Inguinal hernia, Micropenis, Bifi... ORPHA:325345
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Atrial septal defect, Micropenis, Short ribs, Postaxial hand polydac... ORPHA:2519
Schwartz-Jampel Syndrome
High palate, Pectus excavatum, Cleft palate, Abnormally ossified vertebrae, Abnormality of the ur... ORPHA:800
Acrorenal-Mandibular Syndrome
Aplasia of the bladder, High palate, Hypoplasia of the radius, Hemivertebrae, Abnormality of the ... OMIM:200980
Cleidocranial Dysplasia
Narrow chest, Coxa vara, Short clavicles, Clinodactyly of the 5th finger, High, narrow palate, Cl... ORPHA:1452
Campomelia, Cumming Type
Cleft palate, Abnormally ossified vertebrae, Multicystic kidney dysplasia, Brachydactyly, Microme... ORPHA:1318
Posterior Meningocele
Occipital meningocele, Hydrocephalus, Enuresis, Neural tube defect, Meningocele, Thoracic hemiver... ORPHA:268810
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Hydrocephalus, Abnormal clavicle morphology, Malabsorption, Ing... ORPHA:581
Osteogenesis Imperfecta, Type X
Nephrolithiasis, Narrow chest, Inguinal hernia, Thin ribs, Platyspondyly, Micromelia, Scoliosis, ... OMIM:613848
Secondary Short Bowel Syndrome
Malabsorption, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dysmotility, Volv... ORPHA:95427
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Overlapping toe, Pectus excavatum, Prominent sternum, Inguinal hernia, Macroglos... ORPHA:254528
Schinzel-Giedion Syndrome
High palate, Abnormal clavicle morphology, Streak ovary, Short 1st metacarpal, Abnormality of the... ORPHA:798
White-Kernohan Syndrome
Hydroureter, Horseshoe kidney, Hydronephrosis, Anteriorly placed anus, Rectovaginal fistula OMIM:619426
Osteogenesis Imperfecta
Abnormality of femur morphology, Hydrocephalus, Pectus excavatum, Femoral bowing, Micromelia, Bic... ORPHA:666
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Glossoptosis, Multicystic kidney dysplasia, Renal cyst, Meningocele ORPHA:2031
Tibial Hemimelia
Cleft palate, Radial club hand, Hemivertebrae, Ambiguous genitalia, Aplasia of the 2nd metacarpal... ORPHA:93322
Monosomy 9Q22.3
Kyphosis, Hydrocephalus, Pectus excavatum, Nephroblastoma, Short neck, Polydactyly, Abnormality o... ORPHA:77301
Subependymal Nodular Heterotopia
Myelomeningocele, Occipital encephalocele, Nasofrontal encephalocele, Meningocele ORPHA:101030
Occipital Horn Syndrome
Narrow chest, Bladder diverticulum, Kyphosis, Pectus excavatum, Hiatus hernia, Short clavicles, H... OMIM:304150
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Short clavicles, Postaxial polydactyly, Atrioventricular canal defect, Hydrometroco... OMIM:617088
Hypoglossia-Hypodactyly Syndrome
Short distal phalanx of finger, High palate, Anal atresia, Aplasia/Hypoplasia of the tongue, Clef... ORPHA:989
Enlarged Parietal Foramina
Myelomeningocele, Short clavicles, Cleft palate, Broad thumb, Occipital encephalocele ORPHA:60015
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Pectus excavatum, Talipes equinovarus, Inguinal hernia, Small scrotum, Arachnodactyly, ... ORPHA:2215
Grant Syndrome
Sprengel anomaly, Narrow chest, Abnormality of the glenoid fossa, Abnormal rib morphology, Bowing... ORPHA:2097
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Hydrocephalus, Congenital hip dislocation, Abnormal rib morpholog... ORPHA:1647
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Communicating hydrocephalus, Abnormal... ORPHA:2050
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Meningocele ORPHA:3265
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Anal atresia, Cleft palate, Micropenis, Preaxial polydactyly, Short tibia, Postaxia... OMIM:617925
Radio-Renal Syndrome
Renal hypoplasia/aplasia, High, narrow palate, Hypoplasia of the radius, Renal agenesis, Multicys... ORPHA:3015
Acromelic Frontonasal Dysplasia
Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Cryptorchidism, Median cleft palate, Mening... ORPHA:1827
Camptodactyly Syndrome, Guadalajara Type 3
Distal shortening of limbs, Micropenis, Small hand, Short neck, Broad femoral neck, Spina bifida ... ORPHA:488434
Dyskeratosis Congenita, X-Linked
Hypospadias, Anal mucosal leukoplakia, Esophageal stricture, Horseshoe kidney, Phimosis, Urethral... OMIM:305000
Holzgreve Syndrome
Renal hypoplasia/aplasia, Abnormal morphology of ulna, Aplasia/Hypoplasia of the tongue, Abnormal... ORPHA:2167
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Hydrocephalus, Hypoplasia of the uterus, Atrial septal defect, Anal atresia, Cleft palat... OMIM:309801
Marfan Syndrome
Kyphosis, Pectus excavatum, Spondylolisthesis, High, narrow palate, Inguinal hernia, Cleft palate... ORPHA:558
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Narrow chest, Talipes equinovarus, Cleft palate, Short tibia, Short neck, Mi... OMIM:251230
Knobloch Syndrome 1
Occipital meningocele, Renal duplication, Spina bifida occulta, Bifid ureter, Peripapillary atrop... OMIM:267750
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Brachydactyly ORPHA:2643
Neurocutaneous Melanocytosis
Syringomyelia, Renal hypoplasia/aplasia, Meningocele ORPHA:2481
Renal Dysplasia-Limb Defects Syndrome
Aplasia of the ulna, High palate, Talipes equinovarus, Short metacarpal, Short sternum, Short rib... OMIM:266910
Lethal Congenital Contracture Syndrome Type 1
Abnormal rib morphology, Short neck, Abnormal form of the vertebral bodies ORPHA:1486
Tetraamelia Syndrome 1
Anal atresia, Hydrocephalus, Urethral atresia, Absent external genitalia, Cleft palate, Renal age... OMIM:273395
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum, Cleft palate OMIM:602196
Joubert Syndrome 1
Macroglossia, Nephropathy, Optic disc coloboma, Postaxial hand polydactyly, Optic disc pallor, Re... OMIM:213300
Autosomal Dominant Popliteal Pterygium Syndrome
Cleft palate, Small scrotum, Bifid scrotum, Scoliosis, Abnormal rib morphology, Ambiguous genital... ORPHA:1300
Fraser Syndrome
High palate, Ambiguous genitalia, Umbilical hernia, Omphalocele, Encephalocele, Small scrotum, Ve... ORPHA:2052
Waardenburg Syndrome
Myelomeningocele, Abnormal vagina morphology, Aplasia/Hypoplasia of the colon, Intestinal obstruc... ORPHA:3440
Orofaciodigital Syndrome I
Myelomeningocele, Abnormal heart morphology, Hydrocephalus, High palate, Cleft palate, Ovarian cy... OMIM:311200
Ulbright-Hodes Syndrome
Aplasia/Hypoplasia of the ulna, High palate, Short sternum, Abnormal external genitalia, Hypoplas... ORPHA:3404
Fraser Syndrome 1
Myelomeningocele, Abnormality of the anus, Hydrocephalus, Renal hypoplasia/aplasia, Cryptorchidis... OMIM:219000
Necrotizing Enterocolitis
Gastroschisis, Abnormal heart morphology ORPHA:391673
Hypophosphatasia
Narrow chest, Abnormal metaphysis morphology, Bowing of the long bones, Abnormal rib morphology ORPHA:436
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Lateral clavicle hook, Cleft palate, Short fem... OMIM:211350
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Bifid scrotum, Micropenis, Perineal hypospadias,... ORPHA:199310
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Aqueductal stenosis, Meningocele, Syringomyelia, Neurogenic bladder ORPHA:1136
Antley-Bixler Syndrome
Narrow chest, Cleft palate, Arachnodactyly, Femoral bowing, Camptodactyly of finger, Abnormal ren... ORPHA:83
Colonic Atresia
Peptic ulcer, Colonic atresia, Omphalocele, Duodenal stenosis, Gastroschisis ORPHA:1198
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Abnormal scapula morphology, Platyspondyly, Rhizomelic arm shortening, Myocarditis,... ORPHA:93317
Oculocerebrorenal Syndrome Of Lowe
Platyspondyly, Hematuria, Genu valgum, Proteinuria, Umbilical hernia, Abnormal metaphysis morphol... ORPHA:534
Aspergillosis
Abnormal rib morphology, Abnormality of the kidney, Abnormality of the vertebral column, Abnormal... ORPHA:1163
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... OMIM:617604
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Coxa vara, Precocious puberty in females, Abnormal clavicle morp... ORPHA:249
Arima Syndrome
Occipital meningocele, Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Post... OMIM:243910
Alagille Syndrome 1
Short distal phalanx of finger, Renal tubular acidosis, Atrial septal defect, Hemivertebrae, Tetr... OMIM:118450
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Bilateral cleft lip and palate, Hip dislocation, Lower limb asymmetry, Meningocele ORPHA:2003
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Sex reversal, Cleft palate, Renal agenesis, Hypospadias, Hypoplasia of the bladder, Ovotestis, Ve... OMIM:611812
Monosomy 9P
High palate, Cleft palate, Hypospadias, Short neck, Abnormality of the vertebral column, Scoliosi... ORPHA:261112
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Narrow chest, Hydrocephalus, Abnormal rib morphology, Optic ... ORPHA:667
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Familial Osteodysplasia, Anderson Type
Kyphosis, Clinodactyly of the 5th finger, Scoliosis, Abnormal form of the vertebral bodies, Aplas... ORPHA:2769
Ear-Patella-Short Stature Syndrome
Clinodactyly of the 5th finger, Hypoplasia of penis, Cleft palate, High, narrow palate, Hypospadi... ORPHA:2554
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Palmoplantar hyperhidrosis, External genital hypoplasia, Hypospadias, Ovotestis, Ambiguous genita... OMIM:610644
Hereditary Acrokeratotic Poikiloderma
Abnormal preputium morphology, Abnormal renal tubule morphology, Camptodactyly of finger, Abnorma... ORPHA:2907
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Bifid scrotum, Micropenis, Hypoplasia of the vagina, Ovot... OMIM:278850
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Ovotestis, Clitoral hypertrophy, True hermaphroditi... OMIM:400045
Kindler Epidermolysis Bullosa
Abnormality of the anus, Colitis, Camptodactyly of finger, Urethral stricture, Inflammation of th... ORPHA:2908
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Semilobar Holoprosencephaly
High palate, Hydrocephalus, Cleft palate, Scoliosis, Bifid uvula, Neural tube defect, Hip disloca... ORPHA:220386
Alobar Holoprosencephaly
High palate, Hydrocephalus, Cleft palate, Scoliosis, Bifid uvula, Neural tube defect, Hip disloca... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
High palate, Hydrocephalus, Cleft palate, Scoliosis, Bifid uvula, Neural tube defect, Hip disloca... ORPHA:93926
Lobar Holoprosencephaly
High palate, Hydrocephalus, Cleft palate, Scoliosis, Bifid uvula, Neural tube defect, Hip disloca... ORPHA:93924
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Meningocele ORPHA:1010

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 Cyp26a1

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 Cyp26a1.

No publications found that use IMPC mice or data for Cyp26a1.

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MGI Allele Allele Type Produced
Cyp26a1tm431385(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cyp26a1tm269048(L1L2_Bact_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors

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