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
Aplasia/Hypoplasia of the radius, Absence of the sacrum, Abnormality of the urinary system, Siren... ORPHA:3169
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Abnormal cranial nerve morphol... ORPHA:2345
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anal atresia, Anencephaly ORPHA:63260
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Abnormality of the ureter, Cryptorchidism, Short neck, Hypospadias, Abnormal m... ORPHA:2311
Joubert Syndrome 18
Occipital encephalocele, Horseshoe kidney, Trident pelvis, Kyphoscoliosis, Bowing of the long bon... OMIM:614815
Oeis Complex
Absent scrotum, Cryptorchidism, Talipes equinovarus, Micropenis, Duplicated collecting system, An... OMIM:258040
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Thoracic hemivertebrae, Overlapping toe, Ventricular septal defect, Abnormal optic d... ORPHA:508498
Spondylocostal Dysostosis 4, Autosomal Recessive
Anal stenosis, Block vertebrae, Myelomeningocele, Abnormal odontoid process morphology, Bell-shap... OMIM:613686
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Long penis, Scoliosis, Preaxial foot polydactyly, Cryptorchidism... ORPHA:1988
Caudal Duplication
Abnormal penis morphology, Intestinal duplication, Uterus didelphys, Myelomeningocele, Cryptorchi... ORPHA:1756
Vacterl/Vater Association
Multicystic kidney dysplasia, Occipital encephalocele, Finger syndactyly, Cryptorchidism, Anal at... ORPHA:887
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Abnormal rib morphology, Abnormal morphology of female internal genit... ORPHA:1797
Becker Nevus Syndrome
Pectus carinatum, Lower limb asymmetry, Micromelia, Abnormal tibia morphology, Abnormal scrotum m... ORPHA:64755
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clitoral hypertrophy, Toe syndactyly, Valvular pulmonary stenosis, Bicuspid aortic valve, Atrial ... OMIM:300707
Renal Agenesis, Bilateral
Renal agenesis, Sirenomelia, Abnormal intestine morphology, Tracheoesophageal fistula, Abnormal s... ORPHA:1848
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Aplasia/hypoplasia of the uterus, Azoospermia, Vertebral segmentation defect, Sho... ORPHA:2578
Cloacal Exstrophy
Hip dislocation, Intestinal duplication, Ureterocele, Hydroureter, Bladder exstrophy, Abnormal ti... ORPHA:93929
Doors Syndrome
Equinovarus deformity, Lumbar scoliosis, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abno... ORPHA:79500
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Bell-shaped thorax, Talipes equinovarus, Aplasia/hypopl... ORPHA:2839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Fanconi Anemia, Complementation Group R
Absent thumb, Radial dysplasia, Pelvic kidney, Hydrocephalus, Anal atresia, Scoliosis, Tethered cord OMIM:617244
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Flexion contracture of finger, ... ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Toe syndactyly, Structural foot deformity, Cryptorchidism, Ventricular sep... ORPHA:464306
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Hypospadias, Spina bifida ORPHA:3176
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Gastroschisis, Ventricular septal defec... ORPHA:2476
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Inguinal hernia, Mitral valve prolapse, Talipes equinovarus, Spina bifida, Camptodactyly OMIM:211960
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology, Abnormal heart morphology, Cleft palate, Nephrolithiasis ORPHA:91412
Mosaic Trisomy 9
Endocardial fibroelastosis, Cryptorchidism, Ventricular septal defect, Talipes equinovarus, Short... ORPHA:99776
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ventricular septal defect, Talipes, Short neck, Pes planus, Short hallux, Abnorma... ORPHA:508488
Poland Syndrome
Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, Hemivertebrae, Dextrocardia, U... OMIM:173800
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Talipes equinovalgus, Atr... ORPHA:1120
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Renal hypoplasia, Horseshoe kidney, Tetralogy of Fallot, Cryptorchidism,... OMIM:601186
Autosomal Recessive Multiple Pterygium Syndrome
Small scrotum, Finger syndactyly, Cryptorchidism, High palate, Symphalangism affecting the phalan... ORPHA:2990
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Neonatal death, Ventricular septal defect, Optic disc pallor, Ectopic kidney, Cys... OMIM:613730
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Absent radius, Duplicated collecting system, Ectopic kidney, Patent ductus arteri... OMIM:227646
Acalvaria
Talipes, Hydrocephalus, Spina bifida, Omphalocele, Postaxial hand polydactyly, Holoprosencephaly,... ORPHA:945
Camptodactyly Syndrome, Guadalajara Type 1
Pectus carinatum, Narrow chest, Toe syndactyly, Short distal phalanx of finger, Abnormal form of ... ORPHA:1327
Tetrasomy 15Q26
Horseshoe kidney, Kyphoscoliosis, Arachnodactyly, Hydronephrosis, Hydrocephalus, Atrial septal de... OMIM:614846
Diabetic Embryopathy
Spinal dysraphism, Abnormal morphology of female internal genitalia, Tetralogy of Fallot, Cryptor... ORPHA:1926
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Renal agenesis, Abnormality of the vertebral column, Azoospermia, Spre... OMIM:601076
Trisomy 20P
Finger syndactyly, Abnormality of the ureter, Cryptorchidism, Talipes, Short neck, Abnormality of... ORPHA:261318
Miller-Dieker Lissencephaly Syndrome
Sacral dimple, Abnormal heart morphology, Cryptorchidism, Inguinal hernia, Polydactyly, Abnormali... OMIM:247200
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Abnormality of the urinary system, Ectrodactyly, Uretera... ORPHA:2437
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Cryptorchidism, Neonatal ... OMIM:146510
Ventriculomegaly With Defects Of The Radius And Kidney
Absent thumb, Renal agenesis, Horseshoe kidney, Bowed forearm bones, Hydrocephalus, Absent radius... OMIM:602200
Nevus Comedonicus Syndrome
Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Abnormal foot morphology, Preax... ORPHA:64754
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Absent thumb, Short thumb, Horseshoe kidney, Nephroblastoma, Ventricul... OMIM:610832
Congenital Disorder Of Glycosylation, Type Iig
Small hand, Shallow acetabular fossae, Cryptorchidism, Talipes equinovarus, Short neck, High pala... OMIM:611209
Duane-Radial Ray Syndrome
Ventricular septal defect, Aplasia of metacarpal bones, Pes planus, Atrial septal defect, Absent ... OMIM:607323
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Absent thumb, Short thumb, Microphallus, Vesicoureteral reflux, Cryptorchidism,... OMIM:603467
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Rib fusion,... OMIM:277300
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Renal agenesis, Broad hallux, Radioulnar synostosis, Pulmonic stenosis, Ectopic... OMIM:212780
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system morphology, Ankle flexio... ORPHA:468631
Joubert Syndrome 15
Micropenis, Nephronophthisis, Exencephaly, Preaxial polydactyly OMIM:614464
Femoral-Facial Syndrome
Toe syndactyly, Encephalocele, Cryptorchidism, Humeroradial synostosis, Ventricular septal defect... OMIM:134780
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Small hand, Cutaneous finger syndactyly, Cryptorchidism, Ventricular septal defect, Talipes equin... OMIM:235510
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Fibular aplasia, Aplasia/Hypoplasia of the patella, Aplasia/Hypop... ORPHA:3320
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Ventricular septal defect, Hydronephrosis, Subvalvular aortic stenosis, Hydroceph... OMIM:613001
Fetal Encasement Syndrome
Upper limb undergrowth, Horseshoe kidney, Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydr... OMIM:613630
14Q24.1Q24.3 Microdeletion Syndrome
Short thumb, Intestinal malrotation, Abnormal heart morphology, Cryptorchidism, Ventricular septa... ORPHA:401935
Pagod Syndrome
Hypoplastic left heart, Optic atrophy, Multicystic kidney dysplasia, Abnormal clavicle morphology... ORPHA:991
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anteriorly placed anus, Tibial torsion, Overlapping toe, Vesicoureteral reflux, Cryptorchidism, I... OMIM:618653
Caudal Regression Syndrome
Renal agenesis, Aplasia/Hypoplasia of the sacrum, Abnormality of the ureter, Renal insufficiency,... ORPHA:3027
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Hypospadias, Toe syndactyly, Short thumb, Anteriorly placed anus, ... ORPHA:2319
Vater/Vacterl Association
Abnormal vertebral morphology, Occipital encephalocele, Ventricular septal defect, Radioulnar syn... OMIM:192350
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, Preaxial polydactyly, Crossed fused renal ectopia, Overlapping toe, Ov... OMIM:618142
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae OMIM:608681
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Multicystic kidney dysplasia, Abnormal heart morphology, Abnormal ... ORPHA:261197
Fibular Hemimelia
Toe syndactyly, Short tibia, Limited knee flexion/extension, Finger syndactyly, Structural foot d... ORPHA:93323
Limb Body Wall Complex
Progressive congenital scoliosis, Cutaneous finger syndactyly, Encephalocele, Aplasia/hypoplasia ... ORPHA:2369
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Abnormal heart morphology, Nephroblastoma, Arac... ORPHA:314588
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Thoracic hemiv... OMIM:268310
Spondylocostal Dysostosis 5
Pectus carinatum, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Syringomyelia, Short nec... OMIM:122600
Intellectual Developmental Disorder, Autosomal Dominant 72
Renal hypoplasia, Short neck, Spina bifida, Shawl scrotum, Micropenis OMIM:620439
Mulchandani-Bhoj-Conlin Syndrome
Clinodactyly, Horseshoe kidney, 2-3 toe syndactyly, Hyperlordosis, Scoliosis OMIM:617352
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Broa... ORPHA:1507
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Strawberry tongue, Xerostomia, Smooth tongue, Abnormalit... ORPHA:353253
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Ophthalmoplegia, External, And Myopia
Absent Achilles reflex, Absent patellar reflexes, Spina bifida OMIM:311000
Schisis Association
Renal agenesis, Micromelia, Encephalocele, Tracheoesophageal fistula, Spina bifida, Omphalocele, ... ORPHA:63862
Williams Syndrome
Genu valgum, Cryptorchidism, Mitral valve prolapse, Polycystic ovaries, Ventricular septal defect... ORPHA:904
Craniofacial Dyssynostosis With Short Stature
Horseshoe kidney, Ventricular septal defect, Hydrocephalus, Hypospadias, Pyloric stenosis OMIM:218350
Nail-Patella Syndrome
Patellar aplasia, Hematuria, Talipes equinovarus, Pes planus, Disproportionate prominence of the ... OMIM:161200
Basal Cell Nevus Syndrome 1
Short distal phalanx of the thumb, Cardiac rhabdomyoma, Sprengel anomaly, Plantar pits, Vertebral... OMIM:109400
Multiple Pterygium Syndrome, Escobar Variant
Talipes calcaneovalgus, Dysplastic patella, Cryptorchidism, Patellar aplasia, Arachnodactyly, Tal... OMIM:265000
Juberg-Hayward Syndrome
Anteriorly placed anus, Horseshoe kidney, Abnormal toe morphology, Aplasia/Hypoplasia of the thum... OMIM:216100
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Absent external genitalia, Block vertebrae, Supernumerary vertebrae, Inguinal hernia, ... OMIM:271520
Meckel Syndrome, Type 6
Postaxial foot polydactyly, Occipital encephalocele, Aplasia of the bladder, Horseshoe kidney, Ta... OMIM:612284
Roifman-Chitayat Syndrome
Optic atrophy, Umbilical hernia, Short neck, Short metatarsal, Ectopic kidney, Short metacarpal OMIM:613328
Hypertelorism, Microtia, Facial Clefting Syndrome
Abnormal vertebral morphology, Short 5th finger, Abnormality of the vertebral column, Abnormal he... OMIM:239800
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Bicuspid aortic valve, Hemivertebrae, Anal atresia, Sacral dimple OMIM:619318
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Dilatation of the renal pelvis, Finger syndactyly, Carpal synostosis,... OMIM:274000
Acropectorovertebral Dysplasia
High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin... ORPHA:957
Robinow Syndrome
Small scrotum, Multicystic kidney dysplasia, Ankyloglossia, Cryptorchidism, Ventricular septal de... ORPHA:97360
Fountain Syndrome
Short distal phalanx of finger, Coarse metaphyseal trabecularization, Abnormal form of the verteb... ORPHA:3219
Gorlin Syndrome
Abnormal vertebral morphology, Plantar pits, Vertebral wedging, Cryptorchidism, Cardiac fibroma, ... ORPHA:377
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Cornelia De Lange Syndrome 1
Cryptorchidism, Ventricular septal defect, Hypoplastic labia majora, Short neck, High palate, Dis... OMIM:122470
1Q44 Microdeletion Syndrome
Intestinal malrotation, Horseshoe kidney, Vesicoureteral reflux, Hydrocephalus, Abnormal cardiac ... ORPHA:238769
Proteus Syndrome
Rib exostoses, Finger syndactyly, Abnormal metacarpal morphology, Abnormal finger morphology, Hip... ORPHA:744
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Renal hypoplasia/aplasia, Ventri... ORPHA:2092
Neural Tube Defects, Susceptibility To
Asymmetry of spinal facet joints, Absence of the sacrum, Myelomeningocele, Hydrocephalus, Urinary... OMIM:182940
Diaphanospondylodysostosis
Unossified sacrum, Delayed vertebral ossification, Nephrogenic rest, Nephroblastomatosis, Horsesh... OMIM:608022
Aicardi Syndrome
Precocious puberty, Optic atrophy, Block vertebrae, Optic disc coloboma, Butterfly vertebrae, Sup... OMIM:304050
Distal Deletion 10Q
Clinodactyly, Pes planus, Atrial septal defect, Anal atresia, High palate, Hip dislocation, Acute... ORPHA:96148
Cat Eye Syndrome
Ventricular septal defect, Atrial septal defect, Rectal atresia, Absent radius, Anal atresia, Hyp... OMIM:115470
Cerebrocostomandibular Syndrome
Posterior rib gap, Multicystic kidney dysplasia, Hydranencephaly, Myelomeningocele, Bell-shaped t... ORPHA:1393
Prune Belly Syndrome
Multicystic kidney dysplasia, Abnormality of the ureter, Cryptorchidism, Ventricular septal defec... ORPHA:2970
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Optic nerve aplasia, Butterfly vertebrae, Cryptorchidism, Ventricular sep... OMIM:206900
Campomelic Dysplasia
Thin ribs, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening of all phalanges of f... OMIM:114290
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Overlapping toe, Talipes equinovarus, Short neck, Sprengel anomaly, Beaking of vertebral bodies, ... OMIM:213980
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Cryptorchidism, Arachnodactyly, Talipes equinovarus, Short hallux,... ORPHA:280
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Clinodactyly... ORPHA:3268
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Abnorm... ORPHA:1354
Isolated Hemihyperplasia
Asymmetry of the thorax, Myelomeningocele, Inguinal hernia, Cryptorchidism, Nephroblastoma, Scoli... ORPHA:2128
Fanconi Anemia, Complementation Group I
Renal hypoplasia, Absent thumb, Short thumb, Short 1st metacarpal, Horseshoe kidney, Vesicoureter... OMIM:609053
Pfeiffer Syndrome Type 3
Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Intestinal malrotation, Horseshoe kid... ORPHA:93260
Exstrophy-Epispadias Complex
Abnormality of the ureter, Cryptorchidism, Abnormality of the abdominal wall, Abnormality of the ... ORPHA:322
Fanconi Anemia, Complementation Group P
Absent thumb, Short thumb, Horseshoe kidney, Cryptorchidism, Hypoplasia of the radius, Pelvic kidney OMIM:613951
Seckel Syndrome 8
Ectopic kidney, Spinal cord compression, Kyphoscoliosis OMIM:615807
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas... ORPHA:175
Aplasia Cutis Congenita
Toe syndactyly, Spinal dysraphism, Finger syndactyly, Facial palsy ORPHA:1114
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Broad hallux, Horseshoe kidney, 2-3 toe syndactyly, Short neck, Pes planus, Micropenis, Short foot OMIM:300860
Tarp Syndrome
Meckel diverticulum, Clinodactyly, Horseshoe kidney, Tetralogy of Fallot, Glossoptosis, Neonatal ... OMIM:311900
Mosaic Variegated Aneuploidy Syndrome 3
Horseshoe kidney, Nephroblastoma, Cleft palate OMIM:617598
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula... ORPHA:84
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Bifid uvula, Renal hypoplasia, Spinal dysraphism, Absence of the sacrum, H... OMIM:617660
Waardenburg Syndrome Type 1
Aganglionic megacolon, Sprengel anomaly, Spina bifida, Meningocele, Scoliosis, Cleft palate ORPHA:894
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Velopharyngeal insufficiency, Recurrent urinary tract infections, Hors... ORPHA:363444
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Carpal s... ORPHA:93320
Vacterl With Hydrocephalus
Absence of the sacrum, Renal agenesis, Abnormal form of the vertebral bodies, Cryptorchidism, Ing... ORPHA:3412
Cenani-Lenz Syndrome
High, narrow palate, Toe syndactyly, Synostosis of carpal bones, Abnormal form of the vertebral b... ORPHA:3258
Hemihyperplasia, Isolated
Myelomeningocele, Scoliosis, Nephroblastoma OMIM:235000
Vacterl Association With Hydrocephalus
Abnormal vertebral morphology, Renal hypoplasia, Absent thumb, Abnormality of the vertebral colum... OMIM:276950
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Horseshoe kidney, 2-3 toe syndactyly, Clinodactyly of the 5th finger, High palate, Scoliosis ORPHA:502434
Jacobsen Syndrome
Aortic valve stenosis, Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Long hall... ORPHA:2308
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ... OMIM:603546
Diaphanospondylodysostosis
Myelomeningocele, Absent or minimally ossified vertebral bodies, Short neck, Multiple renal cysts... ORPHA:66637
Trisomy 18
Narrow palate, Deviation of finger, Abnormal morphology of female internal genitalia, Camptodacty... ORPHA:3380
Williams-Beuren Syndrome
Mitral valve prolapse, Ventricular septal defect, Radioulnar synostosis, Bicuspid aortic valve, A... OMIM:194050
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Prominent fingertip pads, Branchial anomaly, Pes valgus, Pes planus, Brachydactyly, Pelvic kidney... ORPHA:466950
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Grade III vesicoureteral reflux, Cryptorchidism, Ventricular septal defect, Urethral stricture, C... OMIM:619522
Iniencephaly
Rhizomelia, Spinal dysraphism, Absent vertebra, Renal agenesis, Rocker bottom foot, Myelomeningoc... ORPHA:63259
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Radial club hand, Renal hyp... ORPHA:959
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Volvulus, Horseshoe kidney, Abnormal... OMIM:301111
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Internally rotated shoulders, Cleft soft palate, Cryptorchidism, Hip contracture, Ventricular sep... OMIM:619503
Feingold Syndrome Type 1
Toe syndactyly, Multiple muscular ventricular septal defects, Abnormality of the kidney, Anal atr... ORPHA:391641
Lumbar Syndrome
Renal agenesis, Bifid scrotum, Myelomeningocele, Vesicoureteral reflux, Cryptorchidism, Renal dup... ORPHA:83628
Microphthalmia With Limb Anomalies
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial foot polydactyly, Short ... ORPHA:1106
Anophthalmia Plus Syndrome
Deviation of finger, Vertebral segmentation defect, Bilateral cleft palate, Spina bifida, Cleft p... ORPHA:1104
15Q Overgrowth Syndrome
High, narrow palate, Bifid uvula, Contracture of the proximal interphalangeal joint of the 2nd fi... ORPHA:314585
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... OMIM:304120
Cerebrocostomandibular Syndrome
Bell-shaped thorax, Cleft soft palate, Ventricular septal defect, Short hard palate, Atrial septa... OMIM:117650
Combined Oxidative Phosphorylation Deficiency 32
Horseshoe kidney, Death in infancy, Kyphoscoliosis OMIM:617664
Phakomatosis Pigmentokeratotica
Precocious puberty, Pheochromocytoma, Unilateral renal hypoplasia, Hemiatrophy, Cryptorchidism, N... ORPHA:2874
Musculocontractural Ehlers-Danlos Syndrome
Slender finger, Malrotation of small bowel, Atlantoaxial dislocation, Cervical kyphosis, Function... ORPHA:2953
Metatropic Dysplasia
Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Coarse metap... ORPHA:2635
Aminopterin/Methotrexate Embryofetopathy
Mesomelia, Spinal dysraphism, Finger syndactyly, Micromelia, Tetralogy of Fallot, Situs inversus ... ORPHA:1908
Schizophrenia 1
Short proximal phalanx of the 4th toe, Renal agenesis, Partially duplicated kidney, Ectopic kidne... OMIM:181510
Congenital Vertical Talus
Abnormality of the foot musculature, Myelomeningocele, Equinus calcaneus, Pes valgus, Pes planus,... ORPHA:178382
Chromosome 17P13.1 Deletion Syndrome
High, narrow palate, Broad hallux, Umbilical hernia, Long hallux, Knee flexion contracture, Ankle... OMIM:613776
Kabuki Syndrome
Small hand, Cryptorchidism, Renal hypoplasia/aplasia, Vertebral clefting, Duplicated collecting s... ORPHA:2322
Ssr4-Cdg
Horseshoe kidney, Scoliosis ORPHA:370927
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Renal hypoplasia, Dilated cardiomyopathy, Sensory axonal neuropathy, C... OMIM:616541
Lathosterolosis
Toe syndactyly, Postaxial foot polydactyly, Horseshoe kidney, Abnormal thoracic spine morphology,... ORPHA:46059
Alfadhel Syndrome
Horseshoe kidney, Talipes equinovarus OMIM:620655
Aicardi Syndrome
Precocious puberty, Optic atrophy, Block vertebrae, Small hand, Optic disc coloboma, Intestinal p... ORPHA:50
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Mucopolysaccharidosis, Type Iva
Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior beaking of lumbar vertebrae... OMIM:253000
Bardet-Biedl Syndrome 21
Horseshoe kidney, Postaxial hand polydactyly OMIM:617406
Short Stature, Brussels Type
Horseshoe kidney ORPHA:2867
Acces Syndrome
Ectrodactyly, Horseshoe kidney, Tracheoesophageal fistula, Clinodactyly of the 5th finger, Hip di... OMIM:619959
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Short thumb, Horseshoe kidney, Tetralogy of Fallot, Esophagitis, V... OMIM:612562
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Unilateral renal agenesis, Abnormal form of the vertebral bodies, Horseshoe kidney... ORPHA:3109
Hypertelorism-Microtia-Facial Clefting Syndrome
Horseshoe kidney, Crossed fused renal ectopia, Median cleft palate ORPHA:2213
Pallister-Hall Syndrome
Small scrotum, Toe syndactyly, Broad thumb, Radial bowing, Hydrometrocolpos, Polydactyly affectin... ORPHA:672
Amish Lethal Microcephaly
Optic atrophy, Cleft soft palate, Organic aciduria, Spina bifida ORPHA:99742
Baller-Gerold Syndrome
Abnormal vertebral morphology, Carpal synostosis, Patellar aplasia, Perineal fistula, Aphalangy o... OMIM:218600
Koolen-De Vries Syndrome Due To A Point Mutation
Cryptorchidism, Ventricular septal defect, Arachnodactyly, Bicuspid aortic valve, Pes planus, Atr... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cryptorchidism, Ventricular septal defect, Arachnodactyly, Bicuspid aortic valve, Pes planus, Atr... ORPHA:363958
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Clavicular sclerosis, Diaphyseal... ORPHA:2790
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Postaxial foot polydactyly, Broad phalanges of the hand, Hypoplasia of the o... ORPHA:508533
Meacham Syndrome
Hypoplastic left heart, Horseshoe kidney, Tetralogy of Fallot, Scimitar anomaly, Death in childho... OMIM:608978
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormal form of the vertebral bodies, Abnormal morphology of ... ORPHA:1834
1P36 Deletion Syndrome
Abnormal female external genitalia morphology, Cryptorchidism, Abnormal intestine morphology, Abn... ORPHA:1606
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Esophagitis, Perineal fistula, Renal hypoplasia/aplasia, Abnormal m... ORPHA:2538
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Narrow chest, Rhizomelia, Abnormal clavicle morphology, Abnormal metaphysis morpho... ORPHA:93267
Orofaciodigital Syndrome V
Bifid uvula, Postaxial foot polydactyly, Sandal gap, Hamartoma of tongue, Ankyloglossia, Horsesho... OMIM:174300
Mosaic Trisomy 16
Hypospadias, Short forearm, Meckel diverticulum, Short thumb, Clinodactyly, Anteriorly placed anu... ORPHA:1708
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Bowing of the long bones, Renal cyst, Hydrocephalus, At... OMIM:611134
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Talipes equinovarus, Hypoplastic labia majora, Short neck, Inferiorly posit... OMIM:263650
Cerebrofaciothoracic Dysplasia
Narrow chest, Vertebral segmentation defect, Rib fusion, Short neck, Sprengel anomaly, Bifid ribs... ORPHA:1394
Thoraco-Abdominal Enteric Duplication
Duodenal stenosis, Intestinal malrotation, Camptodactyly of finger, Abnormal tricuspid valve morp... ORPHA:1759
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Renal malrotation, Horses... OMIM:120330
Metatropic Dysplasia
Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Peripheral axonal neuropathy, ... OMIM:156530
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clitoral hypertrophy, Toe syndactyly, Renal agenesis, Horseshoe kidney, Mitral atresia, Vesicoure... ORPHA:140952
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Multicystic kidney dysplasia, Long hallux, Genu valgum, Cryptorchidism, Ar... ORPHA:261537
12Q14 Microdeletion Syndrome
Renal hypoplasia, Horseshoe kidney, Intestinal malrotation, Syringomyelia, Clinodactyly of the 5t... ORPHA:94063
Mosaic Trisomy 14
Narrow chest, Lower limb asymmetry, Camptodactyly of finger, Cryptorchidism, High palate, Ectopic... ORPHA:1703
Townes-Brocks Syndrome
Abnormal vertebral morphology, Toe syndactyly, Broad thumb, Abnormal vagina morphology, Cryptorch... ORPHA:857
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Dilatation of the renal pelvis, Dilatation of the bladder, ... OMIM:265380
Gastroschisis
Abdominal wall defect, Gastroschisis OMIM:230750
Zttk Syndrome
Unilateral renal agenesis, Bifid uvula, Optic atrophy, Small hand, Cervical ribs, Horseshoe kidne... OMIM:617140
Chromosome 1P36 Deletion Syndrome, Distal
Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Optic dis... OMIM:607872
Mowat-Wilson Syndrome
Aortic valve stenosis, Multicystic kidney dysplasia, Genu valgum, Cryptorchidism, Bicuspid aortic... ORPHA:2152
Hallermann-Streiff Syndrome
Thin ribs, Abnormal rib cage morphology, Decreased number of sternal ossification centers, High, ... OMIM:234100
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Ventricular septal defect, Hydronephrosi... OMIM:620511
Autosomal Recessive Spastic Paraplegia Type 23
Horseshoe kidney, Hip dislocation, Kyphoscoliosis ORPHA:101003
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Multicystic kidney dysplasia, Long hallux, Genu valgum, Cryptorchidism, Ve... ORPHA:261552
Seckel Syndrome 2
Hypospadias, Microglossia, Ectopic kidney, Clinodactyly of the 5th finger OMIM:606744
Diphallia
Hypospadias, Penoscrotal transposition, Absent thumb, Bladder exstrophy, Duplicated colon, Horses... ORPHA:227
Intellectual Developmental Disorder, X-Linked 99
Hypospadias, Broad thumb, Ectopic kidney, Broad hallux OMIM:300919
Mosaic Trisomy 20
Clinodactyly, Spinal canal stenosis, Horseshoe kidney, Abnormal mitral valve morphology, Vertebra... ORPHA:1724
22Q11.2 Deletion Syndrome
Cryptorchidism, Ventricular septal defect, Arachnodactyly, Talipes equinovarus, Short neck, Atria... ORPHA:567
Pontine Tegmental Cap Dysplasia
Ankle clonus, Rib fusion, Hemivertebrae, Facial palsy, Scoliosis OMIM:614688
Beaulieu-Boycott-Innes Syndrome
Unilateral renal agenesis, Velopharyngeal insufficiency, Recurrent urinary tract infections, Hors... OMIM:613680
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Cryptorchidism, Aplasia/Hypoplasia of the patella, Ventricular septal defec... OMIM:135900
Teebi-Shaltout Syndrome
High, narrow palate, Aortic valve stenosis, Caudal appendage, Ureteral stenosis, Horseshoe kidney... OMIM:272950
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Wolf-Hirschhorn Syndrome
Cryptorchidism, Ventricular septal defect, Talipes equinovarus, Radioulnar synostosis, Short hall... OMIM:194190
Constricting Bands, Congenital
Abnormal rib cage morphology, Encephalocele, Talipes equinovarus, Hand polydactyly, Omphalocele, ... OMIM:217100
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Tapered toe, Bilateral cryptorchidism, Clinodactyly of the 5th finger, Inguinal hernia, Rib fusio... ORPHA:544488
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Ventricular septal defect, Metaphyseal chondrodysplasia, Renal cyst, Hallux val... ORPHA:166035
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Syringomyelia, Hydrocephalus, Spina bifida OMIM:207950
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Talipes equinovarus, Short neck, Atrial s... OMIM:609945
Kbg Syndrome
Radial deviation of finger, Cervical ribs, Ulnar deviation of the 2nd finger, Clinodactyly of the... OMIM:148050
Septopreoptic Holoprosencephaly
Precocious puberty, Abnormal vertebral morphology, Anteriorly placed anus, Ethmoidal encephalocel... ORPHA:280195
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Toe syndactyly, Spina bifida occulta at L5, Synostosis of carpal b... OMIM:102510
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Ectopic accessory finger-like appendage, Postaxial foot polydac... ORPHA:2919
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Pes valgus, Pes planus, Brachydactyly, Pelvic kidney, Dilatation of renal calices, Short palm ORPHA:466943
Townes-Brocks Syndrome 2
Scoliosis, Crossed fused renal ectopia, Vesicoureteral reflux, Bifid uterus, Spina bifida occulta... OMIM:617466
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Short toe, Umbilical hernia, Tetralogy of Fallot, Clinodactyly of the 5th fing... ORPHA:1519
Pelvic Lipomatosis With Crossed Renal Ectopia
Ectopic kidney OMIM:169545
Fanconi Anemia, Complementation Group C
Absent thumb, Renal agenesis, Short thumb, Horseshoe kidney, Cryptorchidism, Ventricular septal d... OMIM:227645
Meckel Syndrome, Type 2
Intestinal malrotation, Encephalocele, Polydactyly, Bowing of the long bones, Renal cyst, Postaxi... OMIM:603194
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Recurrent urinary tract infections, Horseshoe kidney, Vesicoureteral reflux, Submucous cleft hard... OMIM:619103
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Atrioventricular canal defect... OMIM:314390
Fanconi Anemia, Complementation Group A
Absent thumb, Renal agenesis, Short thumb, Horseshoe kidney, Abnormal heart morphology, Cryptorch... OMIM:227650
Axial Spondylometaphyseal Dysplasia
Abnormal metacarpal morphology, Flat acetabular roof, Thoracic hypoplasia, Aplasia/Hypoplasia of ... ORPHA:168549
Gm1 Gangliosidosis
Platyspondyly, Optic atrophy, Coarse metaphyseal trabecularization, Abnormal form of the vertebra... ORPHA:354
Triploidy
Narrow chest, Finger syndactyly, Intestinal malrotation, Cryptorchidism, Short neck, Ambiguous ge... ORPHA:3376
Poland Syndrome
Small hand, Ureterocele, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Encephalocele, Cry... ORPHA:2911
Distal Deletion 12Q
Overlapping toe, Short neck, Large hands, Ectopic kidney, Polycystic kidney dysplasia, Duodenal a... ORPHA:96149
Trisomy 13
High, narrow palate, Optic atrophy, Narrow chest, Ectrodactyly, Abnormal morphology of female int... ORPHA:3378
Mycophenolate Mofetil Embryopathy
Bifid thoracic vertebrae, Ventricular septal defect, Tracheoesophageal fistula, Hydrocephalus, Fo... ORPHA:268249
Duane Retraction Syndrome
Abnormal form of the vertebral bodies, Preaxial hand polydactyly, Talipes equinovarus, Short neck... ORPHA:233
Acrofacial Dysostosis 1, Nager Type
Toe syndactyly, Velopharyngeal insufficiency, Clinodactyly, Overlapping toe, Ventricular septal d... OMIM:154400
Fanconi Anemia, Complementation Group E
Absent thumb, Renal agenesis, Short thumb, Horseshoe kidney, Abnormal heart morphology, Cryptorch... OMIM:600901
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Hand clenching, Clubbing of toes, Hypospadias, Knee dislocation, Congenital posterior urethral va... OMIM:620083
Trisomy 1Q
Small scrotum, Multicystic kidney dysplasia, Toe syndactyly, Abnormal rib morphology, Preaxial ha... ORPHA:261344
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Carpal synostosis, Fibular aplasia, Encephalocele, Bowing of the long... ORPHA:90652
Smith-Lemli-Opitz Syndrome
Multicystic kidney dysplasia, Clitoral hypertrophy, Postaxial foot polydactyly, Finger syndactyly... ORPHA:818
Currarino Syndrome
Urinary incontinence, Anal stenosis, Absence of the sacrum, Recurrent urinary tract infections, H... OMIM:176450
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... OMIM:617641
Craniodiaphyseal Dysplasia
Optic atrophy, Diaphyseal undertubulation, Abnormal rib morphology ORPHA:1513
Pseudoaminopterin Syndrome
Slender finger, Synostosis of carpal bones, Short thumb, Sacrococcygeal pilonidal abnormality, Hi... ORPHA:221120
Neu-Laxova Syndrome 2
Toe syndactyly, Finger syndactyly, Short neck, Spina bifida, High palate, Rocker bottom foot, Sco... OMIM:616038
3Q29 Microdeletion Syndrome
Horseshoe kidney, Subvalvular aortic stenosis, Six lumbar vertebrae, Clinodactyly of the 5th fing... ORPHA:65286
Holoprosencephaly
Encephalocele, Cryptorchidism, Ventricular septal defect, Talipes, Short neck, Holoprosencephaly,... ORPHA:2162
Kinsship Syndrome
Mesomelia, Renal hypoplasia, Sacral dimple, Ankyloglossia, Horseshoe kidney, Death in infancy, Po... OMIM:619297
Jeune Syndrome
Nephropathy, Narrow chest, Nephronophthisis, Abnormal clavicle morphology, Toe syndactyly, Abnorm... ORPHA:474
Tarp Syndrome
Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Horseshoe kidney, Tetralogy of Fa... ORPHA:2886
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Broad foot, Neonatal death, Ventricular septal defect, Short neck, Short pa... OMIM:269860
Kabuki Syndrome 2
Short 5th finger, Prominent fingertip pads, Horseshoe kidney, Atrioventricular canal defect, Pulm... OMIM:300867
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal penis morphology, Broad thumb, Finger syndactyly, Bifid scrotum, Preaxial hand polydacty... ORPHA:2211
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
High, narrow palate, Hypospadias, Lower limb asymmetry, Clinodactyly, Horseshoe kidney, Abnormal ... ORPHA:96182
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Hors... ORPHA:3097
Waardenburg Syndrome, Type 1
Supernumerary vertebrae, Myelomeningocele, Aplasia of the vagina, Supernumerary ribs, Sprengel an... OMIM:193500
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
White Forelock With Malformations
Finger syndactyly, Clinodactyly of the 5th finger, Sprengel anomaly, Atrial septal defect, Abnorm... ORPHA:2475
Mucopolysaccharidosis, Type Ivb
Cervical myelopathy, Platyspondyly, Aortic valve stenosis, Hypoplasia of the odontoid process, Ch... OMIM:253010
Chops Syndrome
High, narrow palate, Horseshoe kidney, Vesicoureteral reflux, Patent foramen ovale, Ventricular s... OMIM:616368
Sacral Defect With Anterior Meningocele
Absence of the sacrum, Urinary retention, Myelomeningocele, Myeloschisis, Back pain, Neurogenic b... OMIM:600145
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... OMIM:184400
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Fanconi Anemia, Complementation Group U
Absent thumb, Patent ductus arteriosus, Hypoplasia of the radius, Unilateral facial palsy, Absent... OMIM:617247
15q26 overgrowth syndrome
Renal agenesis, Duplication of renal pelvis, Camptodactyly of finger, Horseshoe kidney, Vesicoure... DECIPHER:81
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Horseshoe kidney, Decreased testicular size, Muscular ventricular septal defec... OMIM:157800
Diamond-Blackfan Anemia 10
Renal duplication, Ventricular septal defect, Supernumerary ribs, Ectopic kidney, Patent ductus a... OMIM:613309
Wildervanck Syndrome
Meningocele, Fused cervical vertebrae, Short neck ORPHA:3456
X-Linked Intellectual Disability, Snyder Type
Pectus carinatum, Abnormality of the Leydig cells, Cryptorchidism, Kyphoscoliosis, Arachnodactyly... ORPHA:3063
Neu-Laxova Syndrome
Bifid uvula, Micromelia, Hypogonadism, External genital hypoplasia, Submucous cleft hard palate, ... ORPHA:2671
Neurofibromatosis, Type I
Neurofibroma, Pheochromocytoma, Renal artery stenosis, Genu valgum, Tibial pseudarthrosis, Plexif... OMIM:162200
Mend Syndrome
Aortic valve stenosis, Broad hallux, Crossed fused renal ectopia, Overlapping toe, Overlapping fi... OMIM:300960
Schimmelpenning-Feuerstein-Mims Syndrome
Horseshoe kidney, Hyperphosphaturia, Kyphoscoliosis, Abnormal finger morphology, Abnormal toe mor... OMIM:163200
Achondrogenesis Type 1B
Narrow chest, Micromelia, Abnormal rib morphology, Umbilical hernia, Talipes equinovarus, Short n... ORPHA:93298
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short distal phalanx of finger, Horseshoe kidney, Ventricular septal defect, Metaphyseal chondrod... OMIM:250410
Rubinstein-Taybi Syndrome 1
Broad thumb, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Talipes equinovaru... OMIM:180849
Holt-Oram Syndrome
Broad thumb, Finger syndactyly, Ventricular septal defect, Radioulnar synostosis, Sprengel anomal... ORPHA:392
Chilton-Okur-Chung Neurodevelopmental Syndrome
Ankyloglossia, Cryptorchidism, Broad foot, Chordee, Pes planus, Hypospadias, Patent ductus arteri... OMIM:619841
Tetrasomy 9P
Small hand, Abnormal mitral valve morphology, Talipes equinovarus, Short neck, Dextrocardia, High... ORPHA:3310
Lathosterolosis
2-3 toe cutaneous syndactyly, Postaxial foot polydactyly, 2-4 toe cutaneous syndactyly, Horseshoe... OMIM:607330
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Renal agenesis, Abnormal sternum morphology, Abnormal tibia mor... ORPHA:1335
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Abnormality of the ureter, Short neck, Spinal cord compression, Hyp... ORPHA:2522
Phaver Syndrome
Ulnar deviation of finger, Broad thumb, Abnormal form of the vertebral bodies, Short thumb, Campt... ORPHA:2876
Igg4-Related Ophthalmic Disease
Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve, Sialadenitis, Orchit... ORPHA:449563
Melnick-Needles Syndrome
Anisospondyly, Narrow chest, Short distal phalanx of finger, Short thorax, Cone-shaped epiphyses ... ORPHA:2484
Neu-Laxova Syndrome 1
Toe syndactyly, Finger syndactyly, Clinodactyly, Cryptorchidism, Neonatal death, Ventricular sept... OMIM:256520
3Mc Syndrome 2
Abnormal vertebral morphology, Caudal appendage, Abnormality of the vertebral column, Horseshoe k... OMIM:265050
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Micromelia, Cryptorchidism, Ventricular septal defect, Ambiguous genitali... ORPHA:2772
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Tetralogy of Fallot, Ambiguous genitalia, Abnormal rib morphology, ... ORPHA:276422
Vitamin K Antagonist Embryofetopathy
Short distal phalanx of finger, Myelomeningocele, Punctate vertebral calcifications, Short neck, ... ORPHA:1914
Focal Dermal Hypoplasia
Toe syndactyly, Foot polydactyly, Short metacarpal, Myelomeningocele, Brachydactyly, Postaxial ha... OMIM:305600
3Mc Syndrome 3
Clinodactyly, Preaxial polydactyly, Horseshoe kidney, Radioulnar synostosis, Penoscrotal hypospad... OMIM:248340
Cog1-Cdg
Posterior rib gap, Atrial septal dilatation, Rhizomelia, Butterfly vertebrae, Vertebral segmentat... ORPHA:263508
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Macrodactyly, Renal hypoplasia, Spinal dysraphism, Lower limb asymmetry, Sandal gap, Nephroblasto... OMIM:612918
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Anteriorly placed anus, Horseshoe kidney, Bladder exstrop... OMIM:600057
Alagille Syndrome
Short distal phalanx of finger, Nephrotic syndrome, Abnormal form of the vertebral bodies, Abnorm... ORPHA:52
Charge Syndrome
Abnormal tibia morphology, Talipes, Aqueductal stenosis, Holoprosencephaly, Tetralogy of Fallot, ... ORPHA:138
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney, Absent thumb, Absent radius OMIM:179280
Diastrophic Dysplasia
Ulnar deviation of finger, Hypoplastic cervical vertebrae, Abnormal clavicle morphology, Abnormal... ORPHA:628
Lateral Meningocele Syndrome
Dural ectasia, Kyphosis, Umbilical hernia, Cryptorchidism, Inguinal hernia, Biconcave vertebral b... OMIM:130720
Faciocardiorenal Syndrome
Horseshoe kidney, Tricuspid valve prolapse, Endocardial fibroelastosis, Cleft palate ORPHA:1973
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Pectus carinatum, Aplasia/Hypoplasia of fingers, Toe syndactyly, Clinodactyly of the 5th finger, ... ORPHA:3082
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Genu valgum, Renal hypoplasia/aplasia, Bicuspid aortic valve... ORPHA:99413
Turner Syndrome
Inflammation of the large intestine, Genu valgum, Renal hypoplasia/aplasia, Bicuspid aortic valve... ORPHA:881
Mosaic Monosomy X
Inflammation of the large intestine, Genu valgum, Renal hypoplasia/aplasia, Bicuspid aortic valve... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Genu valgum, Renal hypoplasia/aplasia, Bicuspid aortic valve... ORPHA:99226
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal form of the vertebral bodies, Sandal gap, Sprengel anomaly, Hydrocephalus, Hemivertebrae... ORPHA:2180
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Cervicomedullary schisis, Cervical C2/C3 vertebral fusion, Short neck,... OMIM:118100
Cooper-Jabs Syndrome
Anteriorly placed anus, Umbilical hernia, Camptodactyly of finger, Ventricular septal defect, Mis... ORPHA:1488
Renal And Mullerian Duct Hypoplasia
Horseshoe kidney, Anteriorly displaced urethral meatus, Renal hypoplasia OMIM:266810
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral renal agenesis, Bifid uvula, Optic atrophy, Absent thumb, Cervical ribs, Horseshoe kid... ORPHA:500150
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Intestinal malrotation, Tibial bowing, Abnormality of the lower limb, Bowing of th... ORPHA:3035
Gastroschisis
Volvulus, Intestinal malrotation, Intestinal atresia, Intestinal perforation, Gastroschisis ORPHA:2368
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormal lower motor neuron morphology, Tracheoesophageal ... ORPHA:93941
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Multicystic kidney dysplasia, Cryptorchidism, Missing ribs, Hydrocephalus, Abnorma... ORPHA:3301
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Bifid uvula, Atrioventricular canal defect, Patent ductus arteriosus, Spina bifida, Unilateral fa... OMIM:619480
Charge Syndrome
Ventricular septal defect, Overriding aorta, Atrial septal defect, Absent radius, Bilateral talip... OMIM:214800
Subependymal Nodular Heterotopia
Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele ORPHA:101030
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myelomeningocele, Hydronephrosis, Contracture of the proximal interphalangeal joint of the 5th fi... OMIM:620141
Mucopolysaccharidosis, Type Iiia
Umbilical hernia, Heparan sulfate excretion in urine, Inguinal hernia, Ovoid thoracolumbar verteb... OMIM:252900
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Small scrotum, Abnormal form of the vertebral bodies, Hypogonadism, Decreased testicular size, Sh... ORPHA:2234
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Bicuspid aortic valve, Chordee, Abnorm... ORPHA:1772
Cornelia De Lange Syndrome 6
Pectus carinatum, Short 1st metacarpal, Atrioventricular canal defect, Inguinal hernia, Down-slop... OMIM:620568
Brachytelephalangic Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Ventricular septal def... ORPHA:79345
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Anal atresia, Abnormal rib morphology, Abnormal localiz... ORPHA:195
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Abnormal vertebral morphology, Small hand, Hip subluxation, Hypoplasia of proximal radius, Horses... ORPHA:444077
Kabuki Syndrome 1
Abnormal vertebral morphology, Short 5th finger, Anal stenosis, Congenital hip dislocation, Anope... OMIM:147920
Cantú Syndrome
Platyspondyly, Short distal phalanx of finger, Narrow chest, Finger syndactyly, Deep plantar crea... ORPHA:1517
Roberts-Sc Phocomelia Syndrome
Clinodactyly, Ventricular septal defect, Short neck, Abnormal metacarpal morphology, Atrial septa... OMIM:268300
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, 11 pairs of ribs, Cryptorchidism, Ventricular septal defect, Trach... ORPHA:77298
Dextrocardia
Congenital hip dislocation, Meckel diverticulum, Abnormal foot morphology, Intestinal malrotation... ORPHA:1666
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Bell-shaped thorax, Encephalocele, Cryptorchidism, Anal atresia, Flat acetabular roo... OMIM:616300
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Meningocele ORPHA:3265
Hennekam Syndrome
Narrow chest, Finger syndactyly, Abnormal foot morphology, Horseshoe kidney, Camptodactyly of fin... ORPHA:2136
Matthew-Wood Syndrome
Horseshoe kidney, Renal hypoplasia, Vesicoureteral reflux, Duodenal stenosis ORPHA:2470
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Hypogonadotropic hypogonadism, Tracheoesophageal fistula, Hyperlordosis, Abnorm... ORPHA:3068
Mucopolysaccharidosis, Type X
Platyspondyly, Broad clavicles, Aortic valve stenosis, Irregular acetabular roof, Broad ribs, Gen... OMIM:619698
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Block vertebrae, Occipital encephalocele, Renal agenesis, Cervical ... OMIM:164210
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Mucopolysaccharidosis Type 4
Platyspondyly, Pectus carinatum, Short thorax, Spinal canal stenosis, Abnormal heart valve morpho... ORPHA:582
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Renal insuff... ORPHA:93111
Isolated Posterior Meningocele
Enuresis, Thoracic hemivertebrae, Absent Achilles reflex, Hydrocephalus, Lipomyelomeningocele, Me... ORPHA:268810
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Small hand, Short neck, Anterior rib cupping, Short palm, Long c... OMIM:228520
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Micromelia, Upper limb undergrowth, ... ORPHA:93351
Mucopolysaccharidosis, Type Vi
Hypoplasia of the odontoid process, Genu valgum, Ovoid vertebral bodies, Pectus carinatum, Inguin... OMIM:253200
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Micropenis, Anal atresia, Polycystic kidney dysplasia, Renal dysplasia, Thor... OMIM:613091
Hurler Syndrome
Abnormal vertebral morphology, Abnormal nerve conduction velocity, Abnormal clavicle morphology, ... ORPHA:93473
Coffin-Siris Syndrome
Short 5th finger, Clinodactyly, Horseshoe kidney, Abnormal heart morphology, Tetralogy of Fallot,... ORPHA:1465
C Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Micromelia, Sacral dimple, Horseshoe kidney, Death ... ORPHA:1308
Blepharocheilodontic Syndrome 1
Anal atresia, Cutaneous syndactyly, Clinodactyly, Neural tube defect OMIM:119580
Diamond-Blackfan Anemia
Absent thumb, Short thumb, Renal agenesis, Horseshoe kidney, Abnormal heart morphology, Cleft sof... ORPHA:124
Coffin-Siris Syndrome 12
Slender finger, Hypospadias, Broad thumb, Hip subluxation, Short thumb, Velopharyngeal insufficie... OMIM:619325
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... ORPHA:1836
Acro-Renal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Renal hypoplasia/aplasia,... ORPHA:958
Fryns Microphthalmia Syndrome
Neural tube defect, Bilateral cleft palate OMIM:600776
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia, Fibular aplasia, Ventricular septal defect, Arachnodactyly, Talipes... OMIM:300373
Renpenning Syndrome
High, narrow palate, Decreased testicular size, Clinodactyly of the 5th finger, Abnormal thumb mo... ORPHA:3242
Shprintzen-Goldberg Craniosynostosis Syndrome
Thin ribs, Genu valgum, Cryptorchidism, Mitral valve prolapse, Arachnodactyly, Talipes equinovaru... OMIM:182212
Hyperparathyroidism, Transient Neonatal
Thin ribs, Unilateral renal agenesis, Fractured rib, Narrow chest, Metaphyseal spurs, Umbilical h... OMIM:618188
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Broad thumb, Finger syndactyly, Cryptorchidism, Bro... ORPHA:373
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Postaxial polydactyly, Renal cyst, Hydrocephalus, Menin... OMIM:614424
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Thoracic hypoplasia, Umbilical hernia, Abnormal heart morphology, Large placenta, Diastasis recti... ORPHA:254534
Bardet-Biedl Syndrome
Fifth finger distal phalanx clinodactyly, Chronic kidney disease, Inflammation of the large intes... ORPHA:110
Lateral Meningocele Syndrome
High, narrow palate, Abnormal form of the vertebral bodies, Umbilical hernia, Ventricular septal ... ORPHA:2789
Osteogenesis Imperfecta, Type X
Thin ribs, Platyspondyly, Narrow chest, Rhizomelia, Thoracic hypoplasia, Micromelia, Broad ribs, ... OMIM:613848
Phocomelia, Schinzel Type
Finger aplasia, High, narrow palate, Radial bowing, Micromelia, Ectrodactyly, Abnormal tibia morp... ORPHA:2879
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst, Clinodactyly of the 5th finger, Meningocele, Glossoptosis ORPHA:2031
Alg3-Cdg
Cardiomyopathy, Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Macroglossia, High p... ORPHA:79321
Cutis Laxa, Autosomal Recessive, Type Ib
Inguinal hernia, Neonatal death, Arachnodactyly, Bowing of the long bones, Spina bifida, Long fin... OMIM:614437
Fibrochondrogenesis
Narrow chest, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Micromelia, Camptodact... ORPHA:2021
Neurocutaneous Melanocytosis
Meningocele, Death in infancy, Renal hypoplasia/aplasia ORPHA:2481
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Mitral va... OMIM:305620
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Hypoplastic scapulae, Dilatation of the renal pelvis, Clinodactyly... ORPHA:95699
Duplication Of Urethra
Clitoral hypertrophy, Urinary bladder wall hypertrophy, Urethral stricture, Chordee, Urinary inco... ORPHA:237
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Large pl... OMIM:215140
Myhre Syndrome
Abnormal penis morphology, Precocious puberty, Bifid uvula, Platyspondyly, Hypogonadism, External... ORPHA:2588
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the urethra, Finger syndactyly, Micromelia, Abnormality of the upper urinary tract... ORPHA:2145
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Ventricular septal defect, Atrial septal defect, Polycystic kid... OMIM:263520
Bent Bone Dysplasia Syndrome 2
Thin ribs, Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Femoral bowi... OMIM:620076
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe... OMIM:200600
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Fibular aplasia, High palate, Renal dysplasia, Hypoplastic left hea... OMIM:277170
Schwartz-Jampel Syndrome
Abnormality of the ureter, Genu valgum, Hip contracture, Bowing of the long bones, Talipes equino... ORPHA:800
Cleidocranial Dysplasia
High, narrow palate, Hypoplastic scapulae, Narrow chest, Abnormal sacrum morphology, Genu valgum,... ORPHA:1452
Dysosteosclerosis
Platyspondyly, Optic atrophy, Narrow chest, Short diaphyses, Facial paralysis, Broad femoral neck... OMIM:224300
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micromelia, Preaxial polydactyly, Hamartoma of tongue, Occipital meningocele, Postaxial polydacty... OMIM:616546
Mosaic Trisomy 8
Narrow chest, Deep plantar creases, Camptodactyly of finger, Decreased testicular size, Vesicoure... ORPHA:96061
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula... OMIM:200980
Campomelia, Cumming Type
Multicystic kidney dysplasia, Clubbing of toes, Micromelia, Abnormally ossified vertebrae, Abnorm... ORPHA:1318
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Macroglossia, Thoracic hypoplasia, Umbilical hernia, Overlapping toe, Large placenta, Diastasis r... ORPHA:254528
46,Xy Ovotesticular Difference Of Sex Development
Abnormality of the male genitalia, Bifid scrotum, Abnormal clitoris morphology, Abnormal labia mo... ORPHA:325345
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the tongue, Missing ribs, Arachnodac... ORPHA:2759
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Broad ribs, Cryptorchidism, Short ribs, Ventricular septal defect, A... ORPHA:2519
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Aplasia/Hypopla... ORPHA:989
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Fryns Syndrome
Thin ribs, Cryptorchidism, Ventricular septal defect, Short neck, Atrial septal defect, Anal atre... OMIM:229850
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Small cervical vertebral bodies, Cervical spinal canal stenosis, Rhizome... ORPHA:397715
Schinzel-Giedion Syndrome
Abnormality of the ureter, Overlapping toe, Streak ovary, Overlapping fingers, Radioulnar synosto... ORPHA:798
Mucopolysaccharidosis Type 3
Optic atrophy, Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Umbilical her... ORPHA:581
Monosomy 9Q22.3
Plantar pits, Abnormality of the vertebral column, Umbilical hernia, Nephroblastoma, Polydactyly,... ORPHA:77301
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele, Lower limb asymmetry, Hip dislocation, Bilateral cleft palate ORPHA:2003
White-Kernohan Syndrome
Hydroureter, Anteriorly placed anus, Horseshoe kidney, Hydronephrosis, Rectovaginal fistula OMIM:619426
Osteogenesis Imperfecta
Thin ribs, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Intestinal obstru... ORPHA:666
Trisomy 8Q
Camptodactyly of finger, Myelomeningocele, Displacement of the urethral meatus, Short neck, Brach... ORPHA:1752
Multiple Pterygium-Malignant Hyperthermia Syndrome
Small scrotum, Ulnar deviation of finger, Finger syndactyly, Camptodactyly of finger, Hemiatrophy... ORPHA:2215
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Median cleft pal... ORPHA:1827
Tetraamelia Syndrome 1
Absent external genitalia, Abnormal clavicle morphology, Renal agenesis, Abnormal scapula morphol... OMIM:273395
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Abnormal metaphysis morphology, Bowing of the long bones, ... ORPHA:2050
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Radial bowing, Fibular aplasia, Cryptorchidism, Barrel-shaped chest, Humeroradial ... OMIM:276820
Acrocapitofemoral Dysplasia
Radial bowing, Short tibia, Dysplasia of the femoral head, Cone-shaped epiphysis of the 1st metac... OMIM:607778
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Hydrometrocolpos, Horseshoe kidney, Atrioventricular canal defect, Horizontal ribs,... OMIM:617088
Secondary Short Bowel Syndrome
Volvulus, Villous atrophy, Abnormal small intestine morphology, Aganglionic megacolon, Enterocoli... ORPHA:95427
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hypospadias, Vesicovaginal fistula, Anteriorly placed anus, Carpal synostosis, Horseshoe kidney, ... OMIM:201750
Grant Syndrome
Abnormality of the glenoid fossa, Narrow chest, Bowing of the long bones, Sprengel anomaly, Abnor... ORPHA:2097
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Cryptorchidism, Mi... ORPHA:1647
Lenz-Majewski Hyperostotic Dwarfism
Broad clavicles, Microglossia, Anteriorly placed anus, Aplasia/Hypoplasia of the middle phalanges... OMIM:151050
Radio-Renal Syndrome
High, narrow palate, Multicystic kidney dysplasia, Renal agenesis, Abnormal form of the vertebral... ORPHA:3015
Fraser Syndrome
Small scrotum, Toe syndactyly, Abnormal vagina morphology, Finger syndactyly, Female pseudohermap... ORPHA:2052
Curry-Jones Syndrome
Anal stenosis, Broad thumb, Intestinal pseudo-obstruction, Preaxial hand polydactyly, 3-4 toe syn... OMIM:601707
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Uterus didelphys, Short tibia, Preaxial polydactyly, Hamartoma of tongue, Tetralogy... OMIM:617925
Occipital Horn Syndrome
Platyspondyly, Broad clavicles, Pectus carinatum, Narrow chest, Ureteral obstruction, Broad ribs,... OMIM:304150
Dyskeratosis Congenita, X-Linked
Oral leukoplakia, Horseshoe kidney, Phimosis, Anal mucosal leukoplakia, Hypospadias, Esophageal s... OMIM:305000
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Colonic atresia, Anteriorly placed anus, Histiocytoid cardiomyopathy, Ventr... OMIM:309801
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Abnormally ossified vertebrae, Renal hypoplasia/aplasia, Abnorm... ORPHA:2167
Steinfeld Syndrome
Abnormal vertebral morphology, Bifid uvula, Abnormality of the vertebral column, Unilateral renal... OMIM:184705
Camptodactyly Syndrome, Guadalajara Type 3
Small hand, Broad femoral neck, Distal shortening of limbs, Short neck, Abnormal rib morphology, ... ORPHA:488434
Arima Syndrome
Postaxial foot polydactyly, Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wastin... OMIM:243910
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Bifid scrotum, Gonadal dysgenesis, Decreased testicular size, Testic... OMIM:616425
Microcephalic Primordial Dwarfism, Toriello Type
Brachydactyly, Abnormal rib morphology ORPHA:2643
Autosomal Dominant Popliteal Pterygium Syndrome
Small scrotum, Toe syndactyly, Finger syndactyly, Bifid scrotum, Cryptorchidism, Hypoplastic labi... ORPHA:1300
Lethal Congenital Contracture Syndrome Type 1
Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:1486
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Cleft palate, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Kyphomelic Dysplasia
Platyspondyly, Short femur, Thoracic hypoplasia, Radial bowing, Micromelia, Flared metaphysis, Du... OMIM:211350
Hypophosphatasia
Bowing of the long bones, Narrow chest, Abnormal metaphysis morphology, Abnormal rib morphology ORPHA:436
Ulbright-Hodes Syndrome
Thin ribs, Clitoral hypertrophy, Fibular aplasia, Enlarged labia minora, Cryptorchidism, Humerora... ORPHA:3404
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Antley-Bixler Syndrome
Narrow chest, Camptodactyly of finger, Femoral bowing, Arachnodactyly, Abnormal renal morphology,... ORPHA:83
Aspergillosis
Abnormal esophagus morphology, Abnormality of the vertebral column, Abnormality of the kidney, Ab... ORPHA:1163
46,Xx Sex Reversal 4
Clitoral hypertrophy, Gonadal dysgenesis, Ovotestis, Penoscrotal hypospadias, Ambiguous genitalia... OMIM:617480
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Unilateral renal agenesis, Absence of the sacrum, Neonatal death, ... OMIM:615709
Necrotizing Enterocolitis
Abnormal heart morphology, Gastroschisis ORPHA:391673
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis, Omphalocele, Gastroschisis ORPHA:1198
Oculocerebrorenal Syndrome Of Lowe
Genu valgum, Cryptorchidism, Hematuria, Proximal renal tubular acidosis, Patellar dislocation, Hi... ORPHA:534
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Narrow chest, Abnormal scapula morphology, Rhizomelic arm shortening, Metaphyseal ... ORPHA:93317
Fibrous Dysplasia Of Bone
Precocious puberty in females, Abnormal clavicle morphology, Lower limb asymmetry, Abnormal tibia... ORPHA:249
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Renal agenesis, Ventricular septal defect, Ovotestis, Hypospadias, Cle... OMIM:611812
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Short distal phalanx of finger, Renal hypoplasia, Multiple sm... OMIM:118450
Monosomy 9P
Abnormality of the vertebral column, Abnormality of the tarsal bones, Ureteropelvic junction obst... ORPHA:261112
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Ear-Patella-Short Stature Syndrome
High, narrow palate, Aplastic clavicle, Clitoral hypertrophy, Bifid uvula, Camptodactyly of finge... ORPHA:2554
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Bifid femur, Abnormal form of the vertebral bodies, Missing ribs, Abnormal rib... ORPHA:2769
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Optic nerve compression, Abnormal pulmonary valve morphology, Bowing of the long bo... ORPHA:667
Knobloch Syndrome 1
Occipital encephalocele, Bifid ureter, Renal duplication, Hydronephrosis, Duplicated collecting s... OMIM:267750
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Clitoral hypertrophy, Palmoplantar keratoderma, Decreased testicular size, External genital hypop... OMIM:610644
Hereditary Acrokeratotic Poikiloderma
Xerostomia, Abnormality of the urethra, Oral leukoplakia, Finger syndactyly, Camptodactyly of fin... ORPHA:2907
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Median cleft palate, Bilateral cleft palat... OMIM:610828
Marfan Syndrome
High, narrow palate, Protrusio acetabuli, Spondylolisthesis, Mitral valve prolapse, Arachnodactyl... ORPHA:558
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Palmoplantar keratoderma, Finger syndactyly, Camptodactyly o... ORPHA:2908
46,Xx Sex Reversal 1
Clitoral hypertrophy, Azoospermia, True hermaphroditism, Ovotestis, Bicornuate uterus, Hypospadia... OMIM:400045
46,Xx Sex Reversal 2
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... OMIM:278850
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele, Flexion contracture of finger, Palmoplantar keratoderma ORPHA:1010
Holoprosencephaly 9
Alobar holoprosencephaly, Bilateral cleft palate, Short hard palate, Short neck, Hydrocephalus, P... OMIM:610829
Semilobar Holoprosencephaly
Bifid uvula, Abnormal heart morphology, Hydrocephalus, High palate, Neural tube defect, Scoliosis... ORPHA:220386
Alobar Holoprosencephaly
Bifid uvula, Abnormal heart morphology, Hydrocephalus, High palate, Neural tube defect, Scoliosis... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Bifid uvula, Abnormal heart morphology, Hydrocephalus, High palate, Neural tube defect, Scoliosis... ORPHA:93926
Lobar Holoprosencephaly
Bifid uvula, Abnormal heart morphology, Hydrocephalus, High palate, Neural tube defect, Scoliosis... ORPHA:93924
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330

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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