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Gene: Cyp26a1 MGI:1096359

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

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 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
Sirenomelia, Anal atresia, Spina bifida, Renal hypoplasia/aplasia, Absence of the sacrum, Tracheo... ORPHA:3169
Isolated Klippel-Feil Syndrome
Abnormal sacrum morphology, Scoliosis, Abnormal cranial nerve morphology, Anal atresia, Short nec... ORPHA:2345
Craniorachischisis
Sirenomelia, Spinal dysraphism, Cervical spina bifida, Anal atresia, Myelomeningocele, Anencephaly ORPHA:63260
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Cryptorchidism, Abnormal morphology of female internal genitalia, Short thorax, Short ... ORPHA:2311
Oeis Complex
Duplicated colon, Hydroureter, Labial hypoplasia, Sacral segmentation defect, 11 pairs of ribs, P... OMIM:258040
Joubert Syndrome 18
Ventricular septal defect, Horseshoe kidney, Renal cyst, Trident pelvis, Occipital encephalocele,... OMIM:614815
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Pectus excavatum, Abnormality of the odontoid process, Scoliosis, Vertebr... OMIM:613686
Caudal Duplication
Uterus didelphys, Abnormal sacrum morphology, Cryptorchidism, Spinal cord lesion, Spina bifida, M... ORPHA:1756
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Abnormal sacrum morphology, Scoliosis, Cryptorchidism, Abnormality o... ORPHA:1988
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hip dislocation, Ventricular septal defect, Horseshoe kidney, Tetralogy of Fallot, Atrioventricul... ORPHA:508498
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Scoliosis, Abnormal morphology of female internal genitalia, Short ne... ORPHA:1797
Vacterl/Vater Association
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Occipital encephalocele, C... ORPHA:887
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Atrial septal defect, Hydroureter, Labial hypoplasia, Toe syndactyly, Patent foramen ovale, Pelvi... OMIM:300707
Becker Nevus Syndrome
Pectus excavatum, Scoliosis, Kyphosis, Hypoplastic labia minora, Pectus carinatum, Spina bifida o... ORPHA:64755
Renal Agenesis, Bilateral
Sirenomelia, Abnormal sacrum morphology, Abnormal intestine morphology, Cleft palate, Tracheoesop... ORPHA:1848
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short neck, Ectopic kidney, Abnormal rib morphology, Renal dysplasia, Azoospermia, Bicornuate ute... ORPHA:2578
Caudal Regression Syndrome
Anal atresia, Scoliosis, Cryptorchidism, Ambiguous genitalia, Arrhinencephaly, Ectopic kidney, Ab... ORPHA:3027
Doors Syndrome
Hydronephrosis, Sirenomelia, High palate, Nephrocalcinosis, Ambiguous genitalia, Lumbar scoliosis... ORPHA:79500
Cloacal Exstrophy
Anal atresia, Abnormality of fibula morphology, Hip dislocation, Myelomeningocele, Spina bifida, ... ORPHA:93929
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism, Hypospadias ORPHA:3176
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Spina bifida, Ventricular septal defect, Cleft palate, Anencephaly, Ectop... ORPHA:2476
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology, Nephrolithiasis, Abnormal heart morphology, Cleft palate ORPHA:91412
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hydronephrosis, Pectus excavatum, Scoliosis, Cryptorchidism, Micropenis, Duodenal atresia, Renal ... ORPHA:464311
Microphthalmia, Syndromic 9
Hydronephrosis, Cryptorchidism, Inguinal hernia, Pulmonic stenosis, Ventricular septal defect, Ho... OMIM:601186
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the ribs, Hydronephrosis, Lumbar hyperlordosis, Ambiguous genitalia, Long c... ORPHA:2839
Renal Hypodysplasia/Aplasia 3
Hydronephrosis, Horseshoe kidney, Renal dysplasia, Vesicoureteral reflux, Multicystic kidney dysp... OMIM:617805
Dyrk1A-Related Intellectual Disability Syndrome
Hydronephrosis, Pectus excavatum, Scoliosis, Cryptorchidism, Micropenis, Pyloric stenosis, Renal ... ORPHA:464306
Fanconi Anemia, Complementation Group R
Anal atresia, Scoliosis, Pelvic kidney, Hydrocephalus, Tethered cord OMIM:617244
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Ventricular septal defect, Ectopic kidney, Optic disc pallor, Neonatal death, Cys... OMIM:613730
Mosaic Trisomy 9
Scoliosis, Hip dislocation, Ventricular septal defect, Horseshoe kidney, Atrial septal defect, Mu... ORPHA:99776
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Inguinal hernia, Talipes equinovarus, Spina bifida OMIM:211960
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Abnormality of the vertebral column, Unilateral renal agenesis, Hypoplasia of the... OMIM:601076
Diabetic Embryopathy
Hydronephrosis, Abnormal sacrum morphology, Spinal dysraphism, Cryptorchidism, Micropenis, Abnorm... ORPHA:1926
Autosomal Recessive Multiple Pterygium Syndrome
Rib fusion, Pectus excavatum, Scoliosis, High palate, Cryptorchidism, Absence of labia majora, Hy... ORPHA:2990
8Q24.3 Microdeletion Syndrome
Abnormality of the kidney, Inguinal hernia, Ventricular septal defect, Atrioventricular canal def... ORPHA:508488
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Short neck, Hemivertebrae, Back pain, Rib ... OMIM:277300
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Hypoplasia of the odontoid pro... OMIM:609813
Acalvaria
Spina bifida, Hydrocephalus, Holoprosencephaly, Cleft palate, Omphalocele, Talipes ORPHA:945
Encephalocraniocutaneous Lipomatosis
Hydronephrosis, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hydrocephalus, S... OMIM:613001
Camptodactyly Syndrome, Guadalajara Type 1
Pectus excavatum, High palate, Hallux valgus, Spina bifida, Sacral dimple, Scapular winging, Toe ... ORPHA:1327
Poland Syndrome
Dextrocardia, Short ribs, Hemivertebrae, Sprengel anomaly, Rib fusion OMIM:173800
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Hemivertebrae, Vertebral clefting, Rib fusion, Vertebral segmentation defect OMIM:608681
Split Cord Malformation
Scoliosis, Renal duplication, Distal lower limb muscle weakness, Horseshoe kidney, Kyphoscoliosis... ORPHA:573278
Pagod Syndrome
Situs inversus totalis, Encephalocele, Hypoplastic left heart, Abnormal morphology of female inte... ORPHA:991
Fanconi Anemia, Complementation Group D2
Esophageal atresia, Cryptorchidism, Renal duplication, Micropenis, Hydrocephalus, Horseshoe kidne... OMIM:227646
Trisomy 20P
Scoliosis, Abnormality of the kidney, Inguinal hernia, Multiple renal cysts, Macroorchidism, Hydr... ORPHA:261318
Renal Hypoplasia
Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Abnormal renal morphology, Vesic... ORPHA:93101
Miller-Dieker Lissencephaly Syndrome
Cryptorchidism, Inguinal hernia, Duodenal atresia, Sacral dimple, Abnormal heart morphology, Clef... OMIM:247200
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrial septal defect, Spina bifida, Atrioventricular canal defect, Abnormal rib morphology, Bicus... ORPHA:1120
Congenital Disorder Of Glycosylation, Type Iig
Cleft palate, Thoracic scoliosis, Kyphoscoliosis, Hydronephrosis, Cryptorchidism, Hemolytic-uremi... OMIM:611209
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cryptorchidism, Abnormal renal collecting system morphology, Duodenal atresia, Microphallus, Unil... ORPHA:468631
Nevus Comedonicus Syndrome
Scoliosis, Spina bifida, Toe syndactyly, Abnormal foot morphology, Spina bifida occulta, Abnormal... ORPHA:64754
Spondylocostal Dysostosis 5
Syringomyelia, Scoliosis, Vertebral fusion, Low back pain, Butterfly vertebrae, Short neck, Missi... OMIM:122600
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hydronephrosis, Pectus excavatum, Scoliosis, Cryptorchidism, Ventricular septal defect, Horseshoe... OMIM:235510
Czeizel-Losonci Syndrome
Hydronephrosis, High palate, Dextrocardia, Hydrocephalus, Thoracolumbar scoliosis, Spina bifida, ... ORPHA:2437
Ophthalmoplegia, External, And Myopia
Absent Achilles reflex, Absent patellar reflexes, Spina bifida OMIM:311000
Pallister-Hall Syndrome
Hip dislocation, Ventricular septal defect, Hydroureter, Mesoaxial foot polydactyly, Cleft palate... OMIM:146510
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis, Hydrocephalus, Horseshoe kidney, Ventricular septal defect, Hypospadias OMIM:218350
Fanconi Anemia, Complementation Group F
Cryptorchidism, Vesicoureteral reflux, Duodenal atresia, Microphallus, Atrial septal defect, Sacr... OMIM:603467
Joubert Syndrome 15
Exencephaly, Nephronophthisis, Micropenis OMIM:614464
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Hydronephrosis, High palate, Scoliosis, Vesicoureteral reflux, Micropenis, Anteriorly placed anus... OMIM:618653
Oculogastrointestinal Neurodevelopmental Syndrome
Anal atresia, Horseshoe kidney, Sacral dimple, Hemivertebrae, Bicuspid aortic valve OMIM:619318
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Urinary incontinence, Asymmetry of spinal facet joints, Sacral d... OMIM:182940
Fetal Encasement Syndrome
Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydroguanosine level, Lower limb undergrowth, Tet... OMIM:613630
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Strawberry tongue, Xerostomia, Abnormality of somatosens... ORPHA:353253
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Hydronephrosis, Anal atresia, Scoliosis, Vertebral fusion, Supernumerary vertebrae, Inguinal hern... OMIM:271520
Proximal 16P11.2 Microdeletion Syndrome
Syringomyelia, Rib fusion, Scoliosis, Dextrocardia, Pyloric stenosis, Atrial septal defect, Abnor... ORPHA:261197
Heterotaxy, Visceral, 1, X-Linked
Hypoplastic left heart, Enlarged kidney, Atrial septal defect, Ventricular septal defect, Atriove... OMIM:306955
Cenani-Lenz Syndactyly Syndrome
Pectus excavatum, Scoliosis, Pulmonic stenosis, Ectopic kidney, Hemivertebrae, Broad hallux, Rena... OMIM:212780
Williams Syndrome
Scoliosis, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Renal duplication, Tetralogy... ORPHA:904
1Q44 Microdeletion Syndrome
High palate, Scoliosis, Intestinal malrotation, Hydrocephalus, Horseshoe kidney, Vesicoureteral r... ORPHA:238769
Distal Triplication 15Q
Polycystic kidney dysplasia, Hydronephrosis, Abnormality of the kidney, Dilatation of the renal p... ORPHA:314588
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Micropenis, Ambiguous genitalia, Atrial septal defect, Ventricular septal defect, Ov... OMIM:618142
Duane-Radial Ray Syndrome
Hydronephrosis, Anal atresia, Scoliosis, Pes planus, Ventricular septal defect, Horseshoe kidney,... OMIM:607323
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Hypertelorism, Microtia, Facial Clefting Syndrome
Ectopic kidney, Abnormality of the vertebral column, Abnormal heart morphology, Cleft palate, 2-3... OMIM:239800
Mulchandani-Bhoj-Conlin Syndrome
Horseshoe kidney, Scoliosis, 2-3 toe syndactyly, Hyperlordosis OMIM:617352
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Horseshoe kidney, Ectopic kidney, Ureteral duplication, Renal agenesis OMIM:602200
Roifman-Chitayat Syndrome
Short neck, Ectopic kidney, Umbilical hernia, Short metatarsal, Optic atrophy OMIM:613328
Schisis Association
Encephalocele, Anal atresia, Spina bifida, Anencephaly, Cleft palate, Omphalocele, Tracheoesophag... ORPHA:63862
Limb Body Wall Complex
Abnormality of the kidney, Atrial septal defect, Ventricular septal defect, Abnormal heart morpho... ORPHA:2369
Fibular Hemimelia
Short tibia, Increased laxity of ankles, Abnormal heart morphology, Toe syndactyly, Short toe, Fi... ORPHA:93323
14Q24.1Q24.3 Microdeletion Syndrome
Cryptorchidism, Atrial septal defect, Ectopic kidney, Ventricular septal defect, Abnormal heart m... ORPHA:401935
Nail-Patella Syndrome
Thickening of the lateral border of the scapula, Scoliosis, Cleft palate, Patellar dislocation, P... OMIM:161200
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Hip dislocation, Inguinal hernia, Talipes calcaneovalgus, Long clavicles, Rocker botto... OMIM:265000
Meckel Syndrome, Type 6
Postaxial foot polydactyly, Hydrocephalus, Horseshoe kidney, Renal cyst, Occipital encephalocele,... OMIM:612284
Proteus Syndrome
Sirenomelia, Scoliosis, Hallux valgus, Lower limb asymmetry, Hip dislocation, Renal cyst, Asymmet... ORPHA:744
Autosomal Recessive Robinow Syndrome
Abnormal pulmonary valve morphology, Scoliosis, Inguinal hernia, Ventricular septal defect, Atria... ORPHA:1507
Thrombocytopenia-Absent Radius Syndrome
Abnormality of the kidney, Hip dislocation, Scoliosis, Genu varum, Tetralogy of Fallot, Horseshoe... ORPHA:3320
Diaphanospondylodysostosis
Enlarged kidney, Short neck, Horseshoe kidney, Cleft palate, Unossified sacrum, Nephroblastomatos... OMIM:608022
Microphthalmia, Syndromic 3
Esophageal atresia, Butterfly vertebrae, Vertebral fusion, Micropenis, Optic nerve aplasia, Ventr... OMIM:206900
Aicardi Syndrome
Scoliosis, Butterfly vertebrae, Spina bifida, Missing ribs, Hiatus hernia, Cleft palate, Hemivert... OMIM:304050
Vater/Vacterl Association
Scoliosis, Ventricular septal defect, Tetralogy of Fallot, Ureteropelvic junction obstruction, Pa... OMIM:192350
Frontal Encephalocele
Encephalocele, Spina bifida, Hydrocephalus ORPHA:1931
Basal Cell Nevus Syndrome 1
Cardiac fibroma, Down-sloping shoulders, Scoliosis, Vertebral fusion, Plantar pits, Hydrocephalus... OMIM:109400
Juberg-Hayward Syndrome
Scoliosis, Anteriorly placed anus, Horseshoe kidney, Toe syndactyly, Hammertoe, Abnormal vertebra... ORPHA:2319
Prune Belly Syndrome
Scoliosis, Ventricular septal defect, Atrial septal defect, Hydroureter, Tetralogy of Fallot, Int... ORPHA:2970
Cat Eye Syndrome
Rectal fistula, Hydronephrosis, Anal atresia, Intestinal malrotation, Hypoplastic left heart, Pul... OMIM:115470
Cerebrocostomandibular Syndrome
Ventricular septal defect, Spina bifida, Hydranencephaly, Myelomeningocele, Meningocele, Short ha... ORPHA:1393
Cornelia De Lange Syndrome 1
Abnormal renal morphology, Inguinal hernia, Ventricular septal defect, Cleft palate, Supernumerar... OMIM:122470
Seckel Syndrome 8
Ectopic kidney, Kyphoscoliosis, Spinal cord compression OMIM:615807
Exstrophy-Epispadias Complex
Abnormality of the kidney, Renal duplication, Inguinal hernia, Horseshoe kidney, Penoscrotal tran... ORPHA:322
Focal Dermal Hypoplasia
Hydronephrosis, Diastasis recti, Scoliosis, Inguinal hernia, Duodenal atresia, Ventricular septal... ORPHA:2092
Aplasia Cutis Congenita
Facial palsy, Spinal dysraphism, Toe syndactyly ORPHA:1114
Mosaic Variegated Aneuploidy Syndrome 3
Horseshoe kidney, Nephroblastoma, Cleft palate OMIM:617598
Waardenburg Syndrome Type 1
Scoliosis, Spina bifida, Meningocele, Aganglionic megacolon, Cleft palate, Sprengel anomaly ORPHA:894
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Scoliosis, Inguinal hernia, Atrial septal defect, Cleft palate, Sprengel anomaly, Short neck, Ove... OMIM:213980
Robinow Syndrome
Fused thoracic vertebrae, Scoliosis, Ventricular septal defect, Atrial septal defect, Ankylogloss... ORPHA:97360
Distal Deletion 10Q
Enuresis, Anal atresia, Acute kidney injury, Hip dislocation, Lumbar hyperlordosis, High palate, ... ORPHA:96148
Campomelic Dysplasia
Scoliosis, Shortening of all phalanges of the toes, Hip dislocation, Thin ribs, Abnormal heart mo... OMIM:114290
Juberg-Hayward Syndrome
Horseshoe kidney, Abnormal toe morphology, Anteriorly placed anus OMIM:216100
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Tethered cord, Spinal dysraphism, Butterfly vertebrae, Hypoplastic left heart, Bifid uvula, Atria... OMIM:617660
Hemihyperplasia, Isolated
Scoliosis, Nephroblastoma, Myelomeningocele OMIM:235000
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Renal duplication, Nephrocalcinosis, Inguinal hernia, Clitoral hypoplasia, Absent uvul... OMIM:268310
Vacterl With Hydrocephalus
Esophageal atresia, Anal atresia, Cryptorchidism, Hip dislocation, Inguinal hernia, Spina bifida,... ORPHA:3412
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Scoliosis, Abnormal renal collecting system morphology, Inguinal her... OMIM:134780
Wolf-Hirschhorn Syndrome
Scoliosis, Abnormality of the kidney, Atrial septal defect, Cleft palate, Short hallux, Cryptorch... ORPHA:280
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Micropenis, Short neck, Horseshoe kidney, 2-3 toe syndactyly, Broad hallux, Pes planus, Short foot OMIM:300860
Fountain Syndrome
Pectus excavatum, Scoliosis, Spina bifida, Kyphosis, Abnormal foot morphology, Spina bifida occul... ORPHA:3219
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short neck, Myelomeningocele, Multiple renal cysts... ORPHA:66637
Williams-Beuren Syndrome
Abnormal renal morphology, Inguinal hernia, Nephrocalcinosis, Ventricular septal defect, Atrial s... OMIM:194050
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Anal atresia, Abnormality of the kidney, Micropenis, Atrial s... ORPHA:363444
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Ventricular septal defect, Horseshoe kidney, Atrial septal defect, Tetralogy of ... OMIM:274000
Acropectorovertebral Dysplasia
Pectus excavatum, Spina bifida, Cleft palate, High, narrow palate, Tarsal synostosis ORPHA:957
Lumbar Syndrome
Anal atresia, Cryptorchidism, Renal duplication, Micropenis, Ambiguous genitalia, Spina bifida, M... ORPHA:83628
Fanconi Anemia, Complementation Group I
Abnormal renal morphology, Atrial septal defect, Horseshoe kidney, Ventricular septal defect, Sho... OMIM:609053
Fanconi Anemia, Complementation Group P
Horseshoe kidney, Pelvic kidney, Cryptorchidism OMIM:613951
Combined Oxidative Phosphorylation Deficiency 32
Horseshoe kidney, Death in infancy, Kyphoscoliosis OMIM:617664
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Horseshoe kidney, High palate, Scoliosis, 2-3 toe syndactyly ORPHA:502434
Jacobsen Syndrome
Scoliosis, Hip dislocation, Hypoplastic left heart, Inguinal hernia, Ventricular septal defect, T... ORPHA:2308
Pfeiffer Syndrome Type 3
Hydronephrosis, Anal atresia, High palate, Horseshoe kidney, Hallux varus, Aqueductal stenosis, C... ORPHA:93260
Trisomy 18
Hydronephrosis, Esophageal atresia, Anal atresia, Cryptorchidism, Abnormal morphology of female i... ORPHA:3380
Tarp Syndrome
Hydronephrosis, High palate, Bilateral talipes equinovarus, Atrial septal defect, Tetralogy of Fa... OMIM:311900
Iniencephaly
Encephalocele, Syringomyelia, Spinal dysraphism, Anal atresia, Absent vertebra, Spina bifida, Hyd... ORPHA:63259
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Atrial septal defect, Abnormal mitral valve morphology, Kyphosis, Abno... ORPHA:1354
Fanconi Anemia
Abnormal renal morphology, Scoliosis, Aplasia/Hypoplasia of the uvula, Hip dislocation, Tetralogy... ORPHA:84
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormal sacrum morphology, Abnormality of the kidney, Vertebral fusion, Horseshoe kidney, Ectopi... ORPHA:3109
Microgastria-Limb Reduction Defect Syndrome
Esophageal atresia, Anal atresia, Intestinal malrotation, Rectal atresia, Atrial septal defect, H... ORPHA:2538
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Scoliosis, Ventricular septal defect, Atrial septal defect, Ureteropelvic junction obstruction, P... OMIM:619522
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormal rib morphology, Pectus carinatum, Scoliosis ORPHA:3268
Isolated Hemihyperplasia
Scoliosis, Nephroblastoma, Myelomeningocele ORPHA:2128
Meacham Syndrome
Death in childhood, Dextrocardia, Hypoplastic left heart, Enlarged kidney, Ventricular septal def... OMIM:608978
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Pes planus, Pes valgus, Dilatation of renal calices, Pelvic kidney, Branchial anomaly ORPHA:466950
Ssr4-Cdg
Horseshoe kidney, Scoliosis ORPHA:370927
Anophthalmia Plus Syndrome
Cleft palate, Vertebral segmentation defect, Bilateral cleft lip and palate, Spina bifida ORPHA:1104
Cerebrocostomandibular Syndrome
Scoliosis, Ventricular septal defect, Horseshoe kidney, Atrial septal defect, Cleft palate, 11 pa... OMIM:117650
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl... OMIM:618270
Short Stature, Brussels Type
Horseshoe kidney ORPHA:2867
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Inguinal hernia, Hypoplastic left heart, Ventricular septal defect, Subvalvular aortic stenosis, ... OMIM:619503
Hypertelorism-Microtia-Facial Clefting Syndrome
Horseshoe kidney, Crossed fused renal ectopia, Median cleft lip and palate ORPHA:2213
Microphthalmia With Limb Anomalies
Foot oligodactyly, Postaxial foot polydactyly, High palate, Hip dislocation, Hydrocephalus, Horse... ORPHA:1106
Axial Mesodermal Dysplasia Spectrum
Hydronephrosis, Anal atresia, Scoliosis, Abnormal intestine morphology, Abnormal morphology of fe... ORPHA:1834
Aicardi Syndrome
Scoliosis, Butterfly vertebrae, Malabsorption, Missing ribs, Hiatus hernia, Cleft palate, Supernu... ORPHA:50
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Feingold Syndrome Type 1
Hydronephrosis, Esophageal atresia, Abnormality of the kidney, Vesicoureteral reflux, Anal atresi... ORPHA:391641
Cartilage-Hair Hypoplasia
Mucopolysacchariduria, Spinal dysraphism, Scoliosis, Aplasia/Hypoplasia of the abdominal wall mus... ORPHA:175
Musculocontractural Ehlers-Danlos Syndrome
Hydronephrosis, High palate, Scoliosis, Horseshoe kidney, Functional abnormality of the bladder, ... ORPHA:2953
Lathosterolosis
Abnormal thoracic spine morphology, Postaxial foot polydactyly, High palate, Meningocele, Horsesh... ORPHA:46059
Phakomatosis Pigmentokeratotica
Scoliosis, Cryptorchidism, Spina bifida, Renal transitional cell carcinoma, Pheochromocytoma, Uni... ORPHA:2874
Kabuki Syndrome
Hydronephrosis, High palate, Scoliosis, Butterfly vertebrae, Cryptorchidism, Precocious puberty, ... ORPHA:2322
Papillorenal Syndrome
Absence of renal corticomedullary differentiation, Proteinuria, Scoliosis, Stage 5 chronic kidney... OMIM:120330
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Hydroureter, Tetralogy o... OMIM:265380
Short Stature, Microcephaly, And Endocrine Dysfunction
Cryptorchidism, Inguinal hernia, Micropenis, Sensory axonal neuropathy, Ectopic kidney, Pes cavus... OMIM:616541
Schizophrenia 1
Ectopic kidney, Partially duplicated kidney, Renal agenesis, Short proximal phalanx of the 4th toe OMIM:181510
Congenital Vertical Talus
Myelomeningocele, Pes valgus, Rocker bottom foot, Achilles tendon contracture, Pes planus, Abnorm... ORPHA:178382
Amish Lethal Microcephaly
Cleft soft palate, Optic atrophy, Organic aciduria, Spina bifida ORPHA:99742
Cerebrofaciothoracic Dysplasia
Scoliosis, Short neck, Cleft palate, Hemivertebrae, Bifid ribs, Narrow chest, Sprengel anomaly, R... ORPHA:1394
Cenani-Lenz Syndrome
Foot oligodactyly, Scoliosis, Hip dislocation, Renal hypoplasia/aplasia, High, narrow palate, Abn... ORPHA:3258
15Q Overgrowth Syndrome
Abnormal renal morphology, Hydronephrosis, Scoliosis, High palate, Bifid uvula, Hydrocephalus, Ov... ORPHA:314585
Gastroschisis
Abdominal wall defect, Gastroschisis OMIM:230750
Koolen-De Vries Syndrome Due To A Point Mutation
Scoliosis, Renal duplication, Ventricular septal defect, Atrial septal defect, Calcaneovalgus def... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Scoliosis, Renal duplication, Ventricular septal defect, Atrial septal defect, Calcaneovalgus def... ORPHA:363958
Autosomal Recessive Spastic Paraplegia Type 23
Horseshoe kidney, Hip dislocation, Kyphoscoliosis ORPHA:101003
Chromosome 17P13.1 Deletion Syndrome
High palate, Scoliosis, Hallux valgus, Spina bifida, Hydrocephalus, Short neck, Umbilical hernia,... OMIM:613776
Vacterl Association With Hydrocephalus
Anal atresia, Hydrocephalus, Abnormality of the vertebral column, Aqueductal stenosis, Abnormal h... OMIM:276950
22Q11.2 Deletion Syndrome
Polycystic kidney dysplasia, Abnormal pulmonary valve morphology, Scoliosis, Inguinal hernia, Tet... ORPHA:567
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Encephalocele, Spinal dysraphism, Tetralogy of Fallot, Hydrocephalus, Ven... ORPHA:1908
1P36 Deletion Syndrome
Scoliosis, Abnormality of the kidney, Tetralogy of Fallot, 11 pairs of ribs, Hydronephrosis, Cryp... ORPHA:1606
Otopalatodigital Syndrome, Type Ii
Spondylolysis, Atrial septal defect, Short metatarsal, Rocker bottom foot, Cleft palate, Toe synd... OMIM:304120
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Ventricular septal defect, Horseshoe kidney, Unilateral renal... OMIM:613680
Orofaciodigital Syndrome V
Postaxial foot polydactyly, Scoliosis, High palate, Bifid uvula, Tetralogy of Fallot, Horseshoe k... OMIM:174300
Acces Syndrome
Horseshoe kidney, Tracheoesophageal fistula, Hip dislocation, Split foot OMIM:619959
Pontine Tegmental Cap Dysplasia
Scoliosis, Ankle clonus, Hemivertebrae, Facial palsy, Rib fusion OMIM:614688
Pallister-Hall Syndrome
Inguinal hernia, Hip dislocation, Bifid uvula, Ventricular septal defect, Atrial septal defect, A... ORPHA:672
Zttk Syndrome
High palate, Scoliosis, Bifid uvula, Ventricular septal defect, Horseshoe kidney, Atrial septal d... OMIM:617140
Mucopolysaccharidosis, Type Iva
Cervical myelopathy, Scoliosis, Inguinal hernia, Short neck, Ovoid vertebral bodies, Cervical sub... OMIM:253000
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Abnormal pulmonary valve morphology, Scoliosis, Renal duplication, Bifid uvula, Tetralogy of Fall... ORPHA:261537
12Q14 Microdeletion Syndrome
Syringomyelia, Scoliosis, Horseshoe kidney, Ectopic kidney, Intestinal malrotation, Renal hypoplasia ORPHA:94063
Endosteal Hyperostosis, Worth Type
Abnormal rib morphology, Facial palsy, Clavicular sclerosis, Sclerotic vertebral body, Abnormal f... ORPHA:2790
Bardet-Biedl Syndrome 21
Horseshoe kidney OMIM:617406
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Dextrocardia, Meningocele, Abnormal tricuspid valve morphology, Duodenal ... ORPHA:1759
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Hallermann-Streiff Syndrome
Pectus excavatum, Scoliosis, High palate, Cryptorchidism, Spina bifida, Thin ribs, Decreased numb... OMIM:234100
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Scoliosis, Tetralogy of Fallot, Horseshoe kidney, Ventricular sept... OMIM:612562
Mosaic Trisomy 14
High palate, Cryptorchidism, Short neck, Hypoplasia of penis, Abnormal rib morphology, Cleft pala... ORPHA:1703
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Scoliosis, Bifid uvula, Tetralogy of Fallot, Ventricular septal def... OMIM:607872
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormal pulmonary valve morphology, Scoliosis, Renal duplication, Bifid uvula, Duplication of re... ORPHA:261552
Chiari Malformation Type Ii
Syringomyelia, Cervical myelopathy, Myelomeningocele, Spina bifida, Hydrocephalus OMIM:207950
Mowat-Wilson Syndrome
Scoliosis, Abnormality of the kidney, Renal duplication, Bifid uvula, Tetralogy of Fallot, Calcan... ORPHA:2152
Metatropic Dysplasia
Scoliosis, Long thorax, Hydrocephalus, Kyphosis, Cleft palate, Abnormal rib morphology, Narrow ch... ORPHA:2635
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Syringomyelia, Anal atresia, Horseshoe kidney, Ectopic kidney, Renal insufficiency, Mitral atresi... ORPHA:140952
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Recurrent urinary tract infections, Dysplastic pulmonary valve, Ventricular septal defect, Horses... OMIM:619103
Diphallia
Rectoperineal fistula, Duplicated colon, Scoliosis, Renal duplication, Butterfly vertebrae, Anal ... ORPHA:227
Seckel Syndrome 2
Ectopic kidney, Microglossia, Hypospadias OMIM:606744
Townes-Brocks Syndrome 2
Anal atresia, Scoliosis, Bifid uterus, Spina bifida occulta, Vesicoureteral reflux, Rectovaginal ... OMIM:617466
Townes-Brocks Syndrome
Abnormal pulmonary valve morphology, Abnormality of the kidney, Atrial septal defect, Tetralogy o... ORPHA:857
Pelvic Lipomatosis With Crossed Renal Ectopia
Ectopic kidney OMIM:169545
Meckel Syndrome, Type 4
Encephalocele, Atrial septal defect, Meningocele, Ventricular septal defect, Hydrocephalus, Renal... OMIM:611134
Septopreoptic Holoprosencephaly
Anteriorly placed anus, Abnormal rib morphology, Ethmoidal encephalocele, Abnormal vertebral morp... ORPHA:280195
Baller-Gerold Syndrome
Anal atresia, Scoliosis, High palate, Anteriorly placed anus, Bifid uvula, Hydrocephalus, Abnorma... OMIM:218600
Mosaic Trisomy 20
Dysplastic tricuspid valve, Abnormality of the kidney, Scoliosis, Vertebral fusion, Ventricular s... ORPHA:1724
Mosaic Trisomy 16
Anteriorly placed anus, Atrial septal defect, Ventricular septal defect, Horseshoe kidney, Abnorm... ORPHA:1708
Bartsocas-Papas Syndrome 1
Anal atresia, Inguinal hernia, Micropenis, Ambiguous genitalia, Short neck, Ectopic kidney, Hypop... OMIM:263650
Coffin-Siris Syndrome 1
Scoliosis, Inguinal hernia, Short distal phalanx of the 5th toe, Tetralogy of Fallot, Ventricular... OMIM:135900
Acro-Renal-Ocular Syndrome
Vertebral fusion, Tetralogy of Fallot, Horseshoe kidney, Renal hypoplasia/aplasia, Bladder divert... ORPHA:959
Intellectual Developmental Disorder, X-Linked 99
Ectopic kidney, Broad hallux, Hypospadias OMIM:300919
Wolf-Hirschhorn Syndrome
Scoliosis, Hip dislocation, Ventricular septal defect, Atrial septal defect, Cleft palate, Preaxi... OMIM:194190
Fryns Microphthalmia Syndrome
Abnormality of the vertebral column, Neural tube defect, Bilateral cleft lip and palate OMIM:600776
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism, Scoliosis, Congenital hip dislocation, Irregular vertebral endplates, Posterio... OMIM:603546
Lathosterolosis
Postaxial foot polydactyly, Butterfly vertebrae, High palate, Myelomeningocele, Horseshoe kidney,... OMIM:607330
Constricting Bands, Congenital
Encephalocele, Scoliosis, Abnormal rib cage morphology, Cleft palate, Omphalocele, Bladder exstro... OMIM:217100
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Postaxial foot polydactyly, Lumbar hyperlordosis, Cervical instability, Distal lower limb muscle ... ORPHA:508533
Gastroschisis
Intestinal atresia, Gastroschisis ORPHA:2368
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Ventricular septal defect, Short neck, Omphalocele, Platyspondyly, Abnormal ... ORPHA:93267
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Absence of renal corticomedullary differentiation, Cryptorchidism, Decreased numbers of nephrons,... OMIM:617641
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Tapered toe, Inguinal hernia, Sacral dimple, Bilateral cryptorchidism, Celiac disease, Rib fusion ORPHA:544488
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Dilatation of renal calices, Pelvic kidney, Pes planus, Pes valgus ORPHA:466943
Orofaciodigital Syndrome Type 5
Postaxial foot polydactyly, Scoliosis, Bifid uvula, Tetralogy of Fallot, Postaxial polysyndactyly... ORPHA:2919
Teebi-Shaltout Syndrome
Hydronephrosis, Ureteral stenosis, Ventricular septal defect, Horseshoe kidney, Rocker bottom foo... OMIM:272950
Triploidy
Macroglossia, Intestinal malrotation, Cryptorchidism, Ambiguous genitalia, Short neck, Hydrocepha... ORPHA:3376
Mycophenolate Mofetil Embryopathy
Bifid thoracic vertebrae, Hydrocephalus, Ectopic kidney, Ventricular septal defect, Foot polydact... ORPHA:268249
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Renal cyst, Horseshoe kidney, Ventricular septal defect, Pes planus ORPHA:166035
Specc1L-Related Hypertelorism Syndrome
Pectus excavatum, Cryptorchidism, Shawl scrotum, Tetralogy of Fallot, Ectopic kidney, Atrial sept... ORPHA:1519
Currarino Syndrome
Recurrent urinary tract infections, Anal atresia, Neurogenic bladder, Horseshoe kidney, Urinary i... OMIM:176450
Wildervanck Syndrome
Meningocele, Fused cervical vertebrae, Short neck ORPHA:3456
Waardenburg Syndrome, Type 1
Supernumerary vertebrae, Myelomeningocele, Spina bifida, Supernumerary ribs, Sprengel anomaly, Ap... OMIM:193500
Meacham Syndrome
Situs inversus totalis, Conotruncal defect, Cryptorchidism, Hypoplastic left heart, Ambiguous gen... ORPHA:3097
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Trisomy 13
Hydronephrosis, Scoliosis, Cryptorchidism, Abnormal morphology of female internal genitalia, Vent... ORPHA:3378
Distal Deletion 12Q
Polycystic kidney dysplasia, Microglossia, Patent foramen ovale, Kyphoscoliosis, Unilateral crypt... ORPHA:96149
Holoprosencephaly
Abnormal pulmonary valve morphology, Scoliosis, Tetralogy of Fallot, Ventricular septal defect, M... ORPHA:2162
Duane Retraction Syndrome
Short neck, Ectopic kidney, Cleft palate, Abnormal vertebral segmentation and fusion, Spina bifid... ORPHA:233
Sprengel Deformity
Scoliosis, Hemivertebrae, Cervical segmentation defect, Rib segmentation abnormalities, Spina bif... OMIM:184400
Neu-Laxova Syndrome 2
High palate, Scoliosis, Spina bifida, Short neck, Rocker bottom foot, Cleft palate, Toe syndactyly OMIM:616038
Trisomy 1Q
Hydronephrosis, Anal atresia, Cryptorchidism, Long foot, Ambiguous genitalia, Ventricular septal ... ORPHA:261344
Diamond-Blackfan Anemia 10
Renal duplication, Ventricular septal defect, Ectopic kidney, Cleft palate, Supernumerary ribs, P... OMIM:613309
Fanconi Anemia, Complementation Group C
Cryptorchidism, Ventricular septal defect, Horseshoe kidney, Ectopic kidney, Duplicated collectin... OMIM:227645
Gm1 Gangliosidosis
Macroglossia, Scoliosis, Inguinal hernia, Aplasia/Hypoplasia of the abdominal wall musculature, V... ORPHA:354
Neurofibromatosis, Type I
Pectus excavatum, Scoliosis, Spinal neurofibroma, Spina bifida, Hydrocephalus, Tibial pseudarthro... OMIM:162200
Sacral Defect With Anterior Meningocele
Urinary retention, Bilateral talipes equinovarus, Hydrocephalus, Meningocele, Myelomeningocele, N... OMIM:600145
Kinsship Syndrome
Scoliosis, Hip dislocation, Short neck, Horseshoe kidney, Ankyloglossia, Coxa valga, Death in inf... OMIM:619297
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the ribs, Thoracic hypoplasia, Scoliosis, Posterior wedging of vertebral bo... ORPHA:168549
Igg4-Related Ophthalmic Disease
Abnormality of the kidney, Orchitis, Colon cancer, Abnormal fifth cranial nerve morphology, Siala... ORPHA:449563
Kbg Syndrome
Cryptorchidism, Vertebral fusion, Thoracic kyphosis, Short neck, Epispadias, Vertebral arch anoma... OMIM:148050
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Pectus excavatum, Spinal cord compression, Short neck, Abnormality of the ureter, Kyphosis, Abnor... ORPHA:2522
Fanconi Anemia, Complementation Group A
Abnormal renal morphology, Cryptorchidism, Horseshoe kidney, Ectopic kidney, Duplicated collectin... OMIM:227650
Kabuki Syndrome 2
High palate, Hip dislocation, Pulmonic stenosis, Atrial septal defect, Horseshoe kidney, Atrioven... OMIM:300867
Fanconi Anemia, Complementation Group E
Cryptorchidism, Horseshoe kidney, Ectopic kidney, Duplicated collecting system, Abnormal heart mo... OMIM:600901
X-Linked Intellectual Disability, Snyder Type
Pectus excavatum, High palate, Cryptorchidism, Abnormality of the Leydig cells, Testicular atroph... ORPHA:3063
10Q22.3Q23.3 Microduplication Syndrome
Ambiguous genitalia, Tetralogy of Fallot, Abnormal rib morphology, Abnormal clavicle morphology, ... ORPHA:276422
Chops Syndrome
Ventricular septal defect, Horseshoe kidney, High, narrow palate, Patent foramen ovale, Cervical ... OMIM:616368
Short-Rib Thoracic Dysplasia 12
Inguinal hernia, Ambiguous genitalia, Ventricular septal defect, Median cleft lip and palate, Sho... OMIM:269860
Smith-Lemli-Opitz Syndrome
Scoliosis, Hip dislocation, Ambiguous genitalia, Ventricular septal defect, Atrial septal defect,... ORPHA:818
Schimmelpenning-Feuerstein-Mims Syndrome
Horseshoe kidney, Abnormal toe morphology, Hyperphosphaturia, Kyphoscoliosis OMIM:163200
Cardiospondylocarpofacial Syndrome
Dysplastic tricuspid valve, Herniation of intervertebral nuclei, Rib fusion, Scoliosis, Decreased... OMIM:157800
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Broad hallux phalanx, Shawl scrotum, Epispadias, Sacral dimple, Exencephaly, Abnor... ORPHA:2211
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Optic atrophy ORPHA:1513
3Q29 Microdeletion Syndrome
High palate, Six lumbar vertebrae, Horseshoe kidney, Subvalvular aortic stenosis, Hypospadias ORPHA:65286
Bladder Exstrophy And Epispadias Complex
Anteriorly placed anus, Horseshoe kidney, Epispadias, Hydroureter, Unilateral renal agenesis, Bla... OMIM:600057
Achondrogenesis Type 1B
Short neck, Umbilical hernia, Femoral hernia, Abnormal rib morphology, Narrow chest, Short thorax... ORPHA:93298
Ulnar Hemimelia
Spinal dysraphism, Scoliosis, Butterfly vertebrae, Hypoplastic scapulae, Glenoid fossa hypoplasia... ORPHA:93320
Acrofacial Dysostosis 1, Nager Type
Scoliosis, Hip dislocation, Tetralogy of Fallot, Ventricular septal defect, Cleft palate, Toe syn... OMIM:154400
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hip dislocation, Atrial septal defect, Horseshoe kidney, Short metatarsal, Preaxial foot polydact... OMIM:609945
Tarp Syndrome
Hydronephrosis, Scoliosis, Tetralogy of Fallot, Horseshoe kidney, Atrial septal defect, Rocker bo... ORPHA:2886
3Mc Syndrome 2
High palate, Hip dislocation, Horseshoe kidney, Abnormality of the vertebral column, Cleft palate... OMIM:265050
White Forelock With Malformations
Abnormal rib morphology, Spina bifida occulta, Sprengel anomaly, Atrial septal defect ORPHA:2475
Otopalatodigital Syndrome Type 2
Encephalocele, Hydronephrosis, Scoliosis, Hydrocephalus, Myelomeningocele, Ureteral obstruction, ... ORPHA:90652
Chilton-Okur-Chung Neurodevelopmental Syndrome
Scoliosis, Ankyloglossia, Asymmetry of the thorax, Septo-optic dysplasia, Patent foramen ovale, R... OMIM:619841
Tetrasomy 9P
Small toe, Bifid uvula, Median cleft lip and palate, Horseshoe kidney, Abnormal mitral valve morp... ORPHA:3310
Neu-Laxova Syndrome
Scoliosis, Bifid uvula, Spina bifida, Ambiguous genitalia, Hypogonadism, External genital hypopla... ORPHA:2671
Faciocardiorenal Syndrome
Horseshoe kidney, Tricuspid valve prolapse, Endocardial fibroelastosis, Cleft palate ORPHA:1973
Meckel Syndrome, Type 2
Encephalocele, Renal cyst, Meningocele, Cleft palate, Anencephaly, Intestinal malrotation OMIM:603194
Mucopolysaccharidosis, Type Ivb
Cervical myelopathy, Scoliosis, Inguinal hernia, Bilateral talipes equinovarus, Ovoid vertebral b... OMIM:253010
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Scoliosis, Horseshoe kidney, Abnormal heart morphology, High, narrow palate, Renal dysplasia, Eso... ORPHA:96182
Lateral Meningocele Syndrome
Syringomyelia, Inguinal hernia, Pectus excavatum, Scoliosis, Vertebral fusion, Dural ectasia, Neu... OMIM:130720
Renal And Mullerian Duct Hypoplasia
Horseshoe kidney, Anteriorly displaced urethral meatus, Renal hypoplasia OMIM:266810
Jeune Syndrome
Postaxial foot polydactyly, Renal insufficiency, Nephropathy, Nephronophthisis, Abnormal rib morp... ORPHA:474
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Ventricular septal defect, Atrial septal defect, Long clavicles, Short tibia, Abnormal... ORPHA:96334
Netherton Syndrome
Ectopic kidney, Hydronephrosis, Malabsorption, Aminoaciduria ORPHA:634
Cog1-Cdg
Rib fusion, High palate, Butterfly vertebrae, Short neck, Flat acetabular roof, Coxa valga, Atria... ORPHA:263508
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
High palate, Scoliosis, Hip dislocation, Horseshoe kidney, Coxa valga, Knee dislocation, Congenit... OMIM:620083
Pentalogy Of Cantrell
Encephalocele, Scoliosis, Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, H... ORPHA:1335
Mend Syndrome
High palate, Cryptorchidism, Hydrocephalus, Overlapping toe, Sacral dimple, Kyphosis, Aortic valv... OMIM:300960
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormal rib morphology, Intestinal atresia, Tracheoesoph... ORPHA:93941
Pseudoaminopterin Syndrome
High palate, Clinodactyly of the 5th toe, Hydrocephalus, Overlapping toe, Horseshoe kidney, Sacro... ORPHA:221120
Rubinstein-Taybi Syndrome 1
Scoliosis, Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Perimembranou... OMIM:180849
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Spinal dysraphism, Scoliosis, Lower limb asymmetry, Tethered cord, Sandal gap, Nephroblastoma, Re... OMIM:612918
Tetraamelia-Multiple Malformations Syndrome
Anal atresia, Cryptorchidism, Hydrocephalus, Missing ribs, Septo-optic dysplasia, Abnormal rib mo... ORPHA:3301
Charge Syndrome
Hydronephrosis, Abnormal soft palate morphology, Scoliosis, Vesicoureteral reflux, Micropenis, Te... ORPHA:138
Charge Syndrome
Secundum atrial septal defect, Scoliosis, Tetralogy of Fallot, Ventricular septal defect, Atrial ... OMIM:214800
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Scoliosis, Hydrocephalus, Hemivertebrae, Abnormal rib morphology, Sprengel anomaly, ... ORPHA:2180
Subependymal Nodular Heterotopia
Meningocele, Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele ORPHA:101030
Poland Syndrome
Scoliosis, Atrial septal defect, Asymmetry of the thorax, Sprengel anomaly, Aplasia/Hypoplasia of... ORPHA:2911
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Decreased testicular size, Hypogonadism, Short neck, Hypoplasia of penis, Abnormal rib morphology... ORPHA:2234
Alagille Syndrome
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Abnormality of the ureter, Renal... ORPHA:52
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cryptorchidism, Hypoplastic left heart, Ambiguous genitalia, Ventricular septal defect, Hypoplasi... ORPHA:2772
Turner Syndrome Due To Structural X Chromosome Anomalies
Scoliosis, Hypoplastic left heart, Atrial septal defect, Horseshoe kidney, Abnormality of the ova... ORPHA:99413
Turner Syndrome
Scoliosis, Hypoplastic left heart, Atrial septal defect, Horseshoe kidney, Abnormality of the ova... ORPHA:881
Mosaic Monosomy X
Scoliosis, Hypoplastic left heart, Atrial septal defect, Horseshoe kidney, Abnormality of the ova... ORPHA:99228
Monosomy X
Scoliosis, Hypoplastic left heart, Atrial septal defect, Horseshoe kidney, Abnormality of the ova... ORPHA:99226
15q26 overgrowth syndrome
Polycystic kidney dysplasia, Hydronephrosis, Abnormality of the kidney, Scoliosis, High palate, D... DECIPHER:81
Mucopolysaccharidosis, Type Iiia
Heparan sulfate excretion in urine, Asymmetric septal hypertrophy, Scoliosis, Inguinal hernia, Um... OMIM:252900
Cat-Eye Syndrome
Hydronephrosis, Anal atresia, Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormal localiz... ORPHA:195
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Bifid uvula, Atrial septal defect, Horseshoe kidney, Unilateral renal agene... ORPHA:500150
Dextrocardia
Situs inversus totalis, Abnormal renal morphology, Dextrocardia, Congenital hip dislocation, Hydr... ORPHA:1666
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Esophageal atresia, Cryptorchidism, Ventricular septal defect, Hydrocephalus, Holoprosencephaly, ... ORPHA:77298
45,X/46,Xy Mixed Gonadal Dysgenesis
Scoliosis, Abnormality of the kidney, Ambiguous genitalia, Horseshoe kidney, Short metatarsal, Ab... ORPHA:1772
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Scoliosis, Bifid uvula, Spina bifida, Atrioventricular canal defect, Unilateral facial palsy, Pat... OMIM:619480
Cooper-Jabs Syndrome
Scoliosis, Anteriorly placed anus, Ventricular septal defect, Missing ribs, Umbilical hernia, Abn... ORPHA:1488
Melnick-Needles Syndrome
Hydronephrosis, Scoliosis, Hip dislocation, Coxa valga, Anisospondyly, Short clavicles, Abnormal ... ORPHA:2484
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Cryptorchidism, Short neck, Hernia of the abdominal wall, Kyphosis, Hypoplasia of penis, Abnormal... ORPHA:3082
Radial-Renal Syndrome
Ectopic kidney, Unilateral renal agenesis OMIM:179280
Matthew-Wood Syndrome
Horseshoe kidney, Vesicoureteral reflux, Duodenal stenosis, Renal hypoplasia ORPHA:2470
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormality of fibula morphology, Aqueductal stenosis, Abnormality of the lower limb, Lower limb ... ORPHA:3035
Fanconi Anemia, Complementation Group U
Ectopic kidney, Unilateral facial palsy, Patent ductus arteriosus OMIM:617247
Neu-Laxova Syndrome 1
Short umbilical cord, Cryptorchidism, Ventricular septal defect, Short neck, Spina bifida, Hydran... OMIM:256520
Isolated Posterior Meningocele
Enuresis, Absent Achilles reflex, Thoracic hemivertebrae, Hydrocephalus, Meningocele, Lipomyelome... ORPHA:268810
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Cervicomedullary schisis, Abnormality of the kidney, Short neck, Unilateral renal agen... OMIM:118100
Focal Dermal Hypoplasia
Foot oligodactyly, Hydronephrosis, Scoliosis, Congenital hip dislocation, Bifid ureter, Anteriorl... OMIM:305600
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Glomerulopathy, Renal cell carcinoma, Pyloric stenosis, Horseshoe kidney, Re... ORPHA:93111
Phaver Syndrome
Butterfly vertebrae, Ventricular septal defect, Myelomeningocele, Abnormal rib morphology, Broad ... ORPHA:2876
Kabuki Syndrome 1
Hydronephrosis, Anal atresia, Scoliosis, High palate, Micropenis, Intestinal malrotation, Ventric... OMIM:147920
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Hennekam Syndrome
Pyloric stenosis, Horseshoe kidney, Malabsorption, Ectopic kidney, Abnormal foot morphology, Narr... ORPHA:2136
3Mc Syndrome 3
Penoscrotal hypospadias, Micropenis, Horseshoe kidney, Sacral dimple, Cleft palate OMIM:248340
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Macroglossia, High palate, Vesicoureteral reflux, Ventricular septal defect, Horseshoe kidney, Ab... ORPHA:444077
Brachytelephalangic Chondrodysplasia Punctata
Ventricular septal defect, Atrial septal defect, Abnormality of the costochondral junction, Atlan... ORPHA:79345
Mucopolysaccharidosis, Type X
Scoliosis, Spatulate ribs, Left ventricular hypertrophy, Broad ribs, Dermatan sulfate excretion i... OMIM:619698
Craniofacial Microsomia
Scoliosis, Ventricular septal defect, Ectopic kidney, Tetralogy of Fallot, Ureteropelvic junction... OMIM:164210
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Horseshoe kidney, Renal cyst, Ventricular septal defect OMIM:250410
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Horizontal ribs, Anal atresia, Cryptorchidism, Ambiguous genitalia, Renal cyst, Sh... OMIM:616300
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypoplasia of penis, Abnormal rib morphology, Facial palsy, Pectus carinatum, Hypogonadotropic hy... ORPHA:3068
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Esophageal atresia, Dextrocardia, Anal atresia, Enlarged kidney, Hydrocephalus, A... OMIM:314390
Cantú Syndrome
Deep plantar creases, Broad hallux phalanx, Ovoid vertebral bodies, Short neck, Umbilical hernia,... ORPHA:1517
Humero-Radial Synostosis
Meningocele, Tarsal synostosis ORPHA:3265
Holt-Oram Syndrome
Down-sloping shoulders, Pectus excavatum, Scoliosis, Hypoplastic left heart, Atrial septal defect... ORPHA:392
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Thoracic hypoplasia, Diastasis recti, Coat hanger sign of ribs, Ventricular septal defect, Umbili... ORPHA:254534
Lateral Meningocele Syndrome
High palate, Scoliosis, Short neck, Meningocele, Umbilical hernia, Ventricular septal defect, Kyp... ORPHA:2789
Hyperparathyroidism, Transient Neonatal
Inguinal hernia, Enlarged kidney, Communicating hydrocephalus, Short ribs, Umbilical hernia, Thin... OMIM:618188
Coffin-Siris Syndrome
Scoliosis, Atrial septal defect, Horseshoe kidney, Tetralogy of Fallot, Ventricular septal defect... ORPHA:1465
Mucopolysaccharidosis Type 4
Mucopolysacchariduria, Scoliosis, Short neck, Coxa valga, Abnormal heart valve morphology, Kyphos... ORPHA:582
Fryns Syndrome
Ventricular septal defect, Atrial septal defect, Thin ribs, Rocker bottom foot, Cleft palate, Hyd... OMIM:229850
Hurler Syndrome
Macroglossia, Mucopolysacchariduria, Scoliosis, Short neck, Hydrocephalus, Cardiomyopathy, Abnorm... ORPHA:93473
Mucopolysaccharidosis, Type Vi
Macroglossia, Cervical myelopathy, Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies,... OMIM:253200
Neurocutaneous Melanocytosis
Meningocele, Death in infancy, Renal hypoplasia/aplasia ORPHA:2481
Osteopathia Striata With Cranial Sclerosis
Scoliosis, Bifid uvula, Ventricular septal defect, Atrial septal defect, Cleft palate, Fibular ap... OMIM:300373
Diastrophic Dysplasia
Scoliosis, Cryptorchidism, Kyphosis, Cleft palate, Abnormal rib morphology, Abnormal clavicle mor... ORPHA:628
Acro-Renal-Mandibular Syndrome
High palate, Scoliosis, Butterfly vertebrae, Aplasia/Hypoplasia of the tongue, Hip dislocation, S... ORPHA:958
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Renal cyst, Ventricular septal defect, Cleft palate OMIM:614424
Coffin-Siris Syndrome 12
High palate, Scoliosis, Tetralogy of Fallot, Horseshoe kidney, Submucous cleft hard palate, Hip s... OMIM:619325
Roberts-Sc Phocomelia Syndrome
Polycystic kidney dysplasia, High palate, Frontal encephalocele, Atrial septal defect, Hydrocepha... OMIM:268300
C Syndrome
High palate, Short neck, Horseshoe kidney, Abnormality of the anus, Death in infancy, Renal hypop... ORPHA:1308
Renpenning Syndrome
Pectus excavatum, Anal atresia, Decreased testicular size, Cleft palate, Abnormal rib morphology,... ORPHA:3242
Duplication Of Urethra
Unilateral renal hypoplasia, Coronal hypospadias, Uterus didelphys, Recurrent urinary tract infec... ORPHA:237
Simpson-Golabi-Behmel Syndrome
Scoliosis, Inguinal hernia, Ventricular septal defect, Atrial septal defect, Hydroureter, Cardiom... ORPHA:373
Diamond-Blackfan Anemia
Cleft soft palate, High palate, Atrial septal defect, Horseshoe kidney, Ventricular septal defect... ORPHA:124
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Multicystic kidney dysplasia, Glossoptosis, Renal cyst ORPHA:2031
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Polycystic kidney dysplasia, Horizontal ribs, Scoliosis, Thoracic hypoplasia, Micropenis, Enlarge... OMIM:613091
Osteogenesis Imperfecta, Type X
Thoracic hypoplasia, Scoliosis, Inguinal hernia, Pyloric stenosis, Broad ribs, Thin ribs, Vertebr... OMIM:613848
Blepharocheilodontic Syndrome 1
Neural tube defect, Anal atresia OMIM:119580
46,Xy Ovotesticular Difference Of Sex Development
Perineal hypospadias, Abnormality of the clitoris, Fused labia minora, Inguinal hernia, Micropeni... ORPHA:325345
Mosaic Trisomy 8
Hydronephrosis, High palate, Scoliosis, Cryptorchidism, Decreased testicular size, Patellar aplas... ORPHA:96061
White-Kernohan Syndrome
Hydronephrosis, Anteriorly placed anus, Horseshoe kidney, Hydroureter, Rectovaginal fistula OMIM:619426
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Thoracic dysplasia, Polycystic kidney dysplasia, Horizontal ribs, Micropenis, Lateral clavicle ho... OMIM:263520
Schwartz-Jampel Syndrome
Scoliosis, Inguinal hernia, Spinal rigidity, Cleft palate, Shoulder flexion contracture, Sprengel... ORPHA:800
Mucopolysaccharidosis Type 3
Heparan sulfate excretion in urine, Mucopolysacchariduria, Macroglossia, Scoliosis, Inguinal hern... ORPHA:581
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pes planus, Short metatarsal, Platyspondyly, Abnormal rib morphology, Pectus carinatum, Broad foo... ORPHA:93351
Bent Bone Dysplasia Syndrome 2
Butterfly vertebrae, Shawl scrotum, Micropenis, Short lower limbs, Short neck, Coronal cleft vert... OMIM:620076
Secondary Short Bowel Syndrome
Malabsorption, Steatorrhea, Volvulus, Villous atrophy, Aganglionic megacolon, Abnormal small inte... ORPHA:95427
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele, Hip dislocation, Bilateral cleft lip and palate, Lower limb asymmetry ORPHA:2003
Myhre Syndrome
Cryptorchidism, Inguinal hernia, Bifid uvula, Precocious puberty, Hypogonadism, Epispadias, Exter... ORPHA:2588
Acrorenal-Mandibular Syndrome
Polycystic kidney dysplasia, Hip dislocation, Thin ribs, Toe syndactyly, Narrow palate, Uterus di... OMIM:200980
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Increased size of the clitoris, Scoliosis, Ambiguous genitalia, Metatarsal synostosis, Fused labi... ORPHA:95699
Monosomy 9Q22.3
Cardiac fibroma, Pectus excavatum, Plantar pits, Short neck, Abnormality of the vertebral column,... ORPHA:77301
Non-Syndromic Anorectal Malformation
Rectal fistula, Anal atresia, Persistent cloaca, Rectourethral fistula, Myelomeningocele, Hemiver... ORPHA:557
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Micropenis, Atrial septal defect, Ventricular septal defect, Short ribs, Broad ri... ORPHA:2519
Schinzel-Giedion Syndrome
Scoliosis, Inguinal hernia, Abnormal heart morphology, Abnormal clavicle morphology, Streak ovary... ORPHA:798
Cleidocranial Dysplasia
Down-sloping shoulders, Abnormal sacrum morphology, Scoliosis, Hypoplastic scapulae, Short clavic... ORPHA:1452
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Aplasia/Hypoplasia of the tongue, Missing ribs, Hemivertebrae, Abnormal rib morphology, Abnormal ... ORPHA:2759
Fibrochondrogenesis
Short neck, Short ribs, Broad ribs, Hypoplastic scapulae, Cleft palate, Abnormal rib morphology, ... ORPHA:2021
Orofaciodigital Syndrome Vi
High palate, Hypoplastic left heart, Tongue nodules, Preaxial foot polydactyly, Occipital meningo... OMIM:277170
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology, Abnormality of the urethra, Abnormality of the upper urinary tract, Clef... ORPHA:2145
Osteogenesis Imperfecta
Scoliosis, Inguinal hernia, Thin ribs, Multiple rib fractures, Mitral valve prolapse, Hydrocephal... ORPHA:666
Mesomelic Dysplasia, Kantaputra Type
Abnormality of fibula morphology, Abnormal rib morphology, Talipes, Vertebral segmentation defect... ORPHA:1836
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polycystic kidney dysplasia, Micropenis, Hydrocephalus, Atrial septal defect, Short neck, Anencep... OMIM:616546
Acromelic Frontonasal Dysplasia
Encephalocele, Median cleft palate, Meningocele, Patellar hypoplasia, Preaxial foot polydactyly, ... ORPHA:1827
Phocomelia, Schinzel Type
Foot oligodactyly, Anal atresia, Short neck, Meningocele, Hypoplasia of penis, Cleft palate, Tali... ORPHA:2879
Campomelia, Cumming Type
Abnormal thorax morphology, Abnormal intestine morphology, Multiple renal cysts, Cleft palate, Ab... ORPHA:1318
Oculocerebrocutaneous Syndrome
Cryptorchidism, Congenital hip dislocation, Hydrocephalus, Missing ribs, Abnormal rib morphology,... ORPHA:1647
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Anal atresia, Micropenis, Lateral clavicle hook, Tetralogy of Fallot, Short neck... OMIM:617925
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal cortical cysts, Early ossification of capital femoral epiphyses, Meningocele, Renal insuffi... ORPHA:397715
Dyskeratosis Congenita, X-Linked
Oral leukoplakia, Phimosis, Horseshoe kidney, Anal mucosal leukoplakia, Esophageal stricture, Hyp... OMIM:305000
Obsolete: Arnold-Chiari Malformation Type Ii
Neurogenic bladder, Hydrocephalus, Meningocele, Myelomeningocele, Aqueductal stenosis ORPHA:1136
Linear Skin Defects With Multiple Congenital Anomalies 1
Anal atresia, Micropenis, Anteriorly placed anus, Ventricular septal defect, Atrial septal defect... OMIM:309801
Grant Syndrome
Abnormal rib morphology, Narrow chest, Sprengel anomaly, Abnormality of the glenoid fossa ORPHA:2097
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Horizontal ribs, Hydrometrocolpos, Horseshoe kidney, Atrioventricular canal defect, Short ribs, S... OMIM:617088
Multiple Pterygium-Malignant Hyperthermia Syndrome
Pectus excavatum, Scoliosis, Cryptorchidism, Inguinal hernia, Kyphosis, Cleft palate, Abnormal ri... ORPHA:2215
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Scoliosis, Micropenis, Anteriorly placed anus, Horseshoe kidney, Rocker bottom foot, Hemivertebra... OMIM:201750
Occipital Horn Syndrome
Hydronephrosis, Pectus excavatum, High palate, Ureteral obstruction, Broad ribs, Hiatus hernia, C... OMIM:304150
Cole-Carpenter Syndrome
Scoliosis, Communicating hydrocephalus, Kyphosis, Abnormal rib morphology, Abnormal form of the v... ORPHA:2050
46,Xy Sex Reversal 10
Perineal hypospadias, Dysgerminoma, Decreased testicular size, Micropenis, Ambiguous genitalia, G... OMIM:616425
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Congenital pseudoarthrosis of the clavicle, Aplasia/Hypoplasia of metatarsal bones, Hip dislocati... OMIM:276820
Lethal Congenital Contracture Syndrome Type 1
Abnormal form of the vertebral bodies, Abnormal rib morphology, Short neck ORPHA:1486
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Pectus excavatum, Hypoplastic distal segments of scapulae, Cleft palate OMIM:602196
Tetraamelia Syndrome 1
Anal atresia, Hydrocephalus, Hypoplasia of the fallopian tube, Absent external genitalia, Urethra... OMIM:273395
Arima Syndrome
Polycystic kidney dysplasia, Postaxial foot polydactyly, Proteinuria, Renal tubular atrophy, Stag... OMIM:243910
Camptodactyly Syndrome, Guadalajara Type 3
Micropenis, Short neck, Broad femoral neck, Abnormal rib morphology, Spina bifida occulta, Short ... ORPHA:488434
Tibial Hemimelia
Foot oligodactyly, Hip dislocation, Absent tibia, Myelomeningocele, Increased laxity of ankles, S... ORPHA:93322
Hypoglossia-Hypodactyly Syndrome
Anal atresia, Abnormal cranial nerve morphology, High palate, Aplasia/Hypoplasia of the tongue, J... ORPHA:989
Curry-Jones Syndrome
Intestinal malrotation, Triphalangeal hallux, Lipomyelomeningocele, Preaxial foot polydactyly, Oc... OMIM:601707
Sacral Agenesis With Vertebral Anomalies
Anal atresia, Persistent cloaca, Unilateral renal agenesis, Neonatal death, Absence of the sacrum... OMIM:615709
Radio-Renal Syndrome
Short neck, Renal hypoplasia/aplasia, High, narrow palate, Abnormal rib morphology, Renal dysplas... ORPHA:3015
Necrotizing Enterocolitis
Gastroschisis, Abnormal heart morphology ORPHA:391673
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology ORPHA:2643
Autosomal Dominant Popliteal Pterygium Syndrome
Scoliosis, Cryptorchidism, Ambiguous genitalia, Cleft palate, Abnormal rib morphology, Hypoplasti... ORPHA:1300
Tetragametic Chimerism
Perineal hypospadias, Cryptorchidism, Micropenis, Ambiguous genitalia, Gonadal dysgenesis with fe... ORPHA:199310
46,Xx Sex Reversal 4
Penoscrotal hypospadias, Micropenis, Ambiguous genitalia, Retractile testis, Clitoral hypertrophy... OMIM:617480
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Renal hypoplasia/aplasia, Cleft palate, Abnormal rib morphology... ORPHA:2167
Aspergillosis
Abnormality of the vertebral column, Abnormal esophagus morphology, Abnormal rib morphology, Abno... ORPHA:1163
Colonic Atresia
Peptic ulcer, Colonic atresia, Omphalocele, Gastroschisis, Duodenal stenosis ORPHA:1198
Antley-Bixler Syndrome
Abnormal renal morphology, Cleft palate, Abnormal rib morphology, Talipes, Narrow chest, Femoral ... ORPHA:83
Oculocerebrorenal Syndrome Of Lowe
Scoliosis, Glomerulopathy, Nephrocalcinosis, Hip dislocation, Inguinal hernia, Malabsorption, Mul... ORPHA:534
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Ventricular septal defect, Cleft palate, Ovotestis, Sex reversal, Rena... OMIM:611812
Ulbright-Hodes Syndrome
Polycystic kidney dysplasia, High palate, Cryptorchidism, Short neck, Short ribs, Clitoral hypert... ORPHA:3404
Hypophosphatasia
Abnormal rib morphology, Narrow chest ORPHA:436
Alagille Syndrome 1
Stage 5 chronic kidney disease, Ventricular septal defect, Atrial septal defect, Tetralogy of Fal... OMIM:118450
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Fibrous Dysplasia Of Bone
Lower limb asymmetry, Scoliosis, Precocious puberty in females, Abnormal lumbar spine morphology,... ORPHA:249
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Abnormal scapula morphology, Platyspondyly, Abnormal rib morphology, Narrow chest, L... ORPHA:93317
Monosomy 9P
High palate, Scoliosis, Cryptorchidism, Ambiguous genitalia, Short neck, Abnormality of the verte... ORPHA:261112
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Decreased testicular size, External genital hypoplasia, Ambiguous genitalia, Clitoral hypertrophy... OMIM:610644
Ear-Patella-Short Stature Syndrome
Patellar aplasia, Cryptorchidism, Bifid uvula, Epispadias, Clitoral hypertrophy, Submucous cleft ... ORPHA:2554
Familial Osteodysplasia, Anderson Type
Scoliosis, Missing ribs, Bifid femur, Kyphosis, Aplasia/hypoplasia of the femur, Abnormal rib mor... ORPHA:2769
Marfan Syndrome
Scoliosis, Meningocele, Kyphosis, Mitral valve calcification, Spondylolisthesis, Cleft palate, Pr... ORPHA:558
Knobloch Syndrome 1
Hydronephrosis, Renal duplication, Bifid ureter, Pyloric stenosis, Occipital encephalocele, Dupli... OMIM:267750
Holoprosencephaly 7
Median cleft palate, Hydrocephalus, Median cleft lip and palate, Unilateral cleft palate, Lobar h... OMIM:610828
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Hydrocephalus, Abnormal rib morphology, Optic nerve compress... ORPHA:667
Hereditary Acrokeratotic Poikiloderma
Oral leukoplakia, Abnormal preputium morphology, Ankyloglossia, Xerostomia, Abnormal rib morpholo... ORPHA:2907
46,Xx Sex Reversal 2
Perineal hypospadias, Micropenis, Hypoplasia of the vagina, Hypoplasia of the uterus, Azoospermia... OMIM:278850
46,Xx Sex Reversal 1
Clitoral hypertrophy, Azoospermia, Ovotestis, Bicornuate uterus, True hermaphroditism, Sex revers... OMIM:400045
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele, Palmoplantar keratoderma ORPHA:1010
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Neoplasm of the urethra, Phimosis, Abnormality of the anus, ... ORPHA:2908

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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