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Gene: Ttc21b MGI:1920918

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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:
tetratricopeptide repeat domain 21B
Synonyms:
2410066K11Rik,  line 158,  Thm1,  aln

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 Ttc21b mutations

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

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

The table below shows human diseases associated to Ttc21b by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Jeune Syndrome
Abnormal clavicle morphology, Renal insufficiency, Toe syndactyly, Micromelia, Postaxial hand pol... ORPHA:474
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Stage 5 chronic kidney disease, Short long bone, Polydactyly, Narrow chest, Scoliosis, Hepatic cy... OMIM:613819
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820

The table below shows human diseases predicted to be associated to Ttc21b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Femoral-Facial Syndrome
Short femur, Renal hypoplasia/aplasia, Abnormal sacrum morphology, Long penis, Abnormal rib morph... ORPHA:1988
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Renal agenesis, Abnormal thorax morphology, Upper limb phocomelia, Abnormality of the... ORPHA:294975
Odontochondrodysplasia 1
Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Nephronophthisis, Short phalanx... OMIM:184260
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... OMIM:618167
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Hemivertebrae, Short r... OMIM:173800
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Thoracic hypop... OMIM:617866
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly, Polycystic kidney dysplasia OMIM:615397
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Short neck, Polydactyly, Narrow chest, Talipes equinovaru... OMIM:613885
Spondylometaphyseal Dysplasia, Corner Fracture Type
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Hypercon... OMIM:184255
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Ag... OMIM:613091
Diaphanospondylodysostosis
Missing ribs, Short neck, Myelomeningocele, Short thorax, Narrow pelvis bone, Enlarged thorax, Mu... ORPHA:66637
Becker Nevus Syndrome
Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Upper limb asymmet... ORPHA:64755
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... ORPHA:3268
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Hypos... ORPHA:2311
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Autosomal Dominant Spondylocostal Dysostosis
Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Acropectoral Syndrome
Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly, Pectus carinatum, T... OMIM:605967
Jeune Syndrome
Abnormal clavicle morphology, Renal insufficiency, Toe syndactyly, Micromelia, Postaxial hand pol... ORPHA:474
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Jawad Syndrome
Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd... OMIM:251255
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Hypospadias, Micromeli... OMIM:614091
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Neurogenic bladder, Abnormal odontoid process morphology, Block vertebrae, Miss... OMIM:613686
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... OMIM:617405
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Nephrocalcinosis, Short long bo... OMIM:615633
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Long coccyx, Narrow greater sciatic notch, Halberd-shaped... OMIM:156530
Bardet-Biedl Syndrome 10
Renal insufficiency, Polydactyly, Renal cyst OMIM:615987
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v... ORPHA:40
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... ORPHA:1801
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Hydroceph... ORPHA:2635
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Stage 5 chronic kidney disease, Short long bone, Polydactyly, Narrow chest, Scoliosis, Hepatic cy... OMIM:613819
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Single transverse palmar crease, Short neck, Vertebral segmentation defect, R... OMIM:611209
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Dysplasia Epiphysealis Hemimelica
Overgrowth OMIM:127800
Acrorenal-Mandibular Syndrome
Hemivertebrae, Aplasia of the bladder, Narrow chest, Hypoplasia of the ulna, Split hand, Split fo... OMIM:200980
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Platyspondyly, Pect... OMIM:263520
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Postaxial hand polydactyly, Multicystic kidney dysplasia, Triphalangea... ORPHA:2091
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnormal form of the ver... ORPHA:1354
Bardet-Biedl Syndrome 5
Syndactyly, Micropenis, Polydactyly, Brachydactyly OMIM:615983
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Urinary incontinence, Preaxia... OMIM:617927
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Summitt Syndrome
Obesity OMIM:272350
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... OMIM:271650
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Nephrocalcinosis, Short palm, Thoracic hemivertebrae, Micropenis, Dupl... OMIM:268310
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... OMIM:187760
Spondylometaphyseal Dysplasia, A4 Type
Micromelia, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm ORPHA:168555
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, P... OMIM:608728
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Pectus excavatum, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyl... ORPHA:166024
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the vertebral bodies, Clavicu... ORPHA:2790
Pallister-Hall Syndrome
Ectopic kidney, Hemivertebrae, Renal cyst, Holoprosencephaly, Micropenis, Distal shortening of li... OMIM:146510
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Joubert Syndrome 18
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphosc... OMIM:614815
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Polydactyly, Ren... OMIM:615993
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara, Broad palm... ORPHA:93351
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Scoliosis, Ves... OMIM:617271
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa var... OMIM:608940
Isolated Klippel-Feil Syndrome
Spina bifida, Renal hypoplasia/aplasia, Short neck, Abnormal sacrum morphology, Abnormal rib morp... ORPHA:2345
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Aplastic clavicle, Micromelia, Short neck, Hydrocephalus, Preaxial polydac... OMIM:616546
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Hemivertebrae, Sprengel anomaly, Micropenis, Dys... OMIM:134780
Juberg-Hayward Syndrome
Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, A... ORPHA:2319
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... ORPHA:168549
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... OMIM:184400
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the kidney, Renal cyst, Polydactyly, Brachydactyly OMIM:615982
Distal Triplication 15Q
Arachnodactyly, Abnormality of the kidney, Kyphosis, Hydrocephalus, Dilatation of the renal pelvi... ORPHA:314588
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemivertebrae, Thin ribs... OMIM:271520
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... OMIM:184250
Meckel Syndrome 13
Occipital encephalocele, Polycystic kidney dysplasia OMIM:617562
Pseudoachondroplasia
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Abn... ORPHA:750
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro... ORPHA:1350
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Halberd-shaped pelv... OMIM:184252
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Pseudoachondroplasia
Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epip... OMIM:177170
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspon... OMIM:602271
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v... OMIM:602111
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... ORPHA:93267
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Abnormality of the urinary system, Postaxial polydactyly OMIM:213010
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Scoliosis, Spina bifida oc... ORPHA:64754
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Hypoplast... OMIM:607778
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of... ORPHA:1507
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Tapered finger, Pectus excavatum, Short neck, Flattened epiphysis, Genu val... OMIM:607131
Fibrochondrogenesis 2
Thoracic hypoplasia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone,... OMIM:614524
Multiple Pterygium Syndrome, Escobar Variant
Short neck, Camptodactyly of toe, Dislocated radial head, Syndactyly, Arachnodactyly, Hypospadias... OMIM:265000
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Rib fusion, Hand polydactyly, Scoliosis, Abnormal vertebral morphology ORPHA:261197
Holt-Oram Syndrome
Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit... ORPHA:392
Gillessen-Kaesbach-Nishimura Syndrome
Ulnar deviation of the hand, Short neck, Metaphyseal widening, Short long bone, Narrow greater sc... OMIM:263210
Trisomy 17P
Hypoplasia of penis, Urethral valve, Tapered finger, Short neck, Hydrocephalus, Urethral stenosis... ORPHA:261290
Kbg Syndrome
Syndactyly, Vertebral fusion, Single transverse palmar crease, Short neck, Epispadias, Rib fusion... OMIM:148050
Peroxisome Biogenesis Disorder 3A (Zellweger)
Epiphyseal stippling, Polycystic kidney dysplasia OMIM:614859
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... OMIM:223800
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Narcolepsy Type 1
Obesity ORPHA:2073
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Joubert Syndrome 16
Encephalocele, Polydactyly, Renal cyst, Nephronophthisis OMIM:614465
Meckel Syndrome, Type 9
Limb undergrowth, Occipital encephalocele, Multicystic kidney dysplasia, Talipes equinovarus OMIM:614209
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Postaxial hand polydactyly, Genu v... ORPHA:65759
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Hip dislocation, Polycystic kidney dysplasia, Short neck OMIM:608776
Meckel Syndrome, Type 10
Occipital encephalocele, Sacral dimple, Ulnar deviation of the hand, Hypospadias, Postaxial polyd... OMIM:614175
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Large for gestational age OMIM:240900
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Short neck, Ectopic kidney, Abnormal rib morphology, Vertebral segmentation defec... ORPHA:2578
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Diastrophic Dysplasia
Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finger, Proximal placeme... ORPHA:628
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Pectus excavatum, Hip dysplasia, Clinodac... ORPHA:3375
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Tapered finger, Short neck, Hip dislocation, Thin ribs, Irregular vertebr... OMIM:618395
Schneckenbecken Dysplasia
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat... OMIM:269250
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Joubert Syndrome 7
Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease,... OMIM:611560
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Thin ribs... OMIM:300863
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... OMIM:151210
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... OMIM:250420
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polydactyly, Short neck,... OMIM:619879
Cerebrofaciothoracic Dysplasia
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... ORPHA:1394
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Thoracic dysp... OMIM:208500
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Short neck, Delayed epiphyseal ossification, Partial... OMIM:210710
Bardet-Biedl Syndrome 7
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Campomelia, Cumming Type
Pancreatic cysts, Bowing of the long bones, Polycystic kidney dysplasia OMIM:211890
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... OMIM:253000
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia ... ORPHA:3082
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Hyperextensibility of the finger joints, Vertebral fusion, Sacral di... OMIM:213980
Joubert Syndrome 39
Occipital encephalocele, Polycystic kidney dysplasia, Joint contracture of the 5th finger, Postax... OMIM:619562
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Orofaciodigital Syndrome Xvii
Short neck, Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central... OMIM:617926
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... ORPHA:2911
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ... ORPHA:239
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Hypoplasia of penis, Camptodactyly of finger, Pectus excavatum, Rib fusion, Sy... ORPHA:2990
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Missing ribs, Short neck, Hydrocephalus, Abnormal rib morphology, Abnor... ORPHA:1834
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Kyphoscoliosis, Postaxial polydactyly OMIM:612913
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Single transverse palmar crease, Short neck, 2-3 toe syndactyly, Renal cyst, Cut... OMIM:236500
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Peroxisome Biogenesis Disorder 6A (Zellweger)
Epiphyseal stippling, Colpocephaly, Renal cyst OMIM:614870
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Thoracolumbar scoliosis, Preaxial hand polydactyly, Renal hypoplasia, Hypertrophy of the urinary ... OMIM:601389
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hypospadias, Short neck, Pectus excavatum, Hyperlordosis, Kyphosis,... ORPHA:2522
15q26 overgrowth syndrome
Long toe, Arachnodactyly, Camptodactyly of finger, Abnormality of the kidney, Tapered finger, Abn... DECIPHER:81
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Meckel Syndrome, Type 3
Occipital encephalocele, Multicystic kidney dysplasia, Postaxial hand polydactyly, Hydrocephalus,... OMIM:607361
Hogue-Janssen Syndrome 2
Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Pectus excavatum, Hydrocephalus, ... OMIM:616362
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Renal... OMIM:611561
Prune Belly Syndrome
Multicystic kidney dysplasia, Congenital hip dislocation, Recurrent urinary tract infections, Ren... ORPHA:2970
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Clinodactyly of the 5th... ORPHA:3103
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Hypospadi... ORPHA:280
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... OMIM:145001
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short thorax, Short metatarsa... OMIM:617102
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Short lower ... OMIM:259440
Hajdu-Cheney Syndrome
Hypospadias, Kyphoscoliosis, Short neck, Hydrocephalus, Tall lumbar vertebral bodies, Osteolytic ... OMIM:102500
Aicardi Syndrome
Block vertebrae, Proximal placement of thumb, Missing ribs, Spina bifida, Partial agenesis of the... OMIM:304050
Diaphanospondylodysostosis
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res... OMIM:608022
Campomelia, Cumming Type
Bowing of the long bones, Multicystic kidney dysplasia, Abnormally ossified vertebrae, Micromelia... ORPHA:1318
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... OMIM:187601
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Ureteral duplication, Renal insufficiency, Renal dysplasia, Tapered toe, Long-chain dic... OMIM:608836
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Pectus excavatum, Radioulnar synostosis, Multicystic kidney dysplasia ORPHA:3270
Joubert Syndrome 20
4-5 toe syndactyly, Renal cyst, Postaxial polydactyly OMIM:614970
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Tapered toe, Tapered finger, Dysplastic corpus callosum, Rib fusion, Lateral ventr... ORPHA:544488
Atelosteogenesis Type I
Short femur, Rhizomelia, Abnormal ossification involving the femoral head and neck, Abnormal fibu... ORPHA:1190
Branchiootorenal Syndrome 1
Branchial cyst, Renal malrotation, Branchial fistula, Congenital hip dislocation, Unilateral rena... OMIM:113650
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Re... OMIM:603194
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Multicystic kidney dysplasia, Kyphoscoliosis... ORPHA:97360
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Flared metaphysis,... OMIM:602557
Rhyns Syndrome
Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bon... ORPHA:140976
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormal localization of kidney, Hip dysplasia... ORPHA:195
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Lateral cla... OMIM:617895
Melnick-Needles Syndrome
Bowing of the long bones, Coxa valga, Short thorax, Hip dislocation, Abnormal rib morphology, Con... ORPHA:2484
3M Syndrome
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... ORPHA:2616
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Hydrocephalus, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral... ORPHA:2180
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx... ORPHA:2839
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Nephronophthisis 15
Polydactyly, Nephronophthisis OMIM:614845
Ulbright-Hodes Syndrome
Abnormal penis morphology, Short humerus, Short metacarpal, Short neck, Humeroradial synostosis, ... ORPHA:3404
Mosaic Trisomy 14
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short neck, Abnormal rib morphology, N... ORPHA:1703
Microphthalmia, Syndromic 3
Vertebral fusion, Hypospadias, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Micro... OMIM:206900
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Myelomeningocele, Abnormal rib morpho... ORPHA:2876
Acromesomelic Dysplasia 4
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... OMIM:619636
Spondyloepimetaphyseal Dysplasia, Shohat Type
Thoracic hypoplasia, Bowing of the legs, Short neck, Hyperlordosis, Delayed epiphyseal ossificati... ORPHA:93352
Verheij Syndrome
Branchial cyst, Vertebral fusion, Renal agenesis, Short neck, Hip dislocation, Renal hypoplasia, ... OMIM:615583
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syn... ORPHA:93322
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Postaxial h... OMIM:615994
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Multipl... OMIM:263200
Aicardi Syndrome
Block vertebrae, Missing ribs, Partial agenesis of the corpus callosum, Small hand, Rib fusion, H... ORPHA:50
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Proximal femoral metaphyseal irregularity, Early ossification of capital... ORPHA:397715
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly ORPHA:2956
Bardet-Biedl Syndrome 19
Renal insufficiency, Mesoaxial hand polydactyly, Postaxial polydactyly, Renal hypoplasia, Postaxi... OMIM:615996
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Micromelia, Renal hypoplasia/aplasia, Short neck, H... ORPHA:3015
Peroxisome Biogenesis Disorder 2A (Zellweger)
Single transverse palmar crease, Metatarsus adductus, Aminoaciduria, Talipes equinovarus, Polycys... OMIM:214110
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Pectus carinatum, Renal cyst, Vertebral segmentation defect, Clinodactyly ... OMIM:272460
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S... OMIM:615503
Achondrogenesis Type 1B
Micromelia, Short neck, Short thorax, Abnormal rib morphology, Short foot, Narrow chest, Talipes ... ORPHA:93298
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thumb, Preaxial hand ... ORPHA:1120
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Renal hypoplasia/aplasia, ... ORPHA:3258
White Forelock With Malformations
Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi... ORPHA:2475
Vacterl/Vater Association
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis... ORPHA:887
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... OMIM:300106
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Rhizomelia, Thoracolumbar scol... OMIM:618019
Floating-Harbor Syndrome
Short neck, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Dislocated radial head, Short m... ORPHA:2044
Multiple Acyl-Coa Dehydrogenase Deficiency
Scapular winging, Hyperlordosis, Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Et... ORPHA:26791
Mucopolysaccharidosis, Type X
Spatulate ribs, Broad clavicles, Hyperlordosis, Nephrolithiasis, Dermatan sulfate excretion in ur... OMIM:619698
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Aqueductal stenosis, Abno... ORPHA:3035
Meckel Syndrome, Type 1
Syndactyly, Bowing of the long bones, Hypoplasia of the bladder, Renal agenesis, Camptodactyly of... OMIM:249000
Mosaic Trisomy 1
Thoracic scoliosis, Single transverse palmar crease, Renal cyst, Finger clinodactyly, Micropenis,... ORPHA:1692
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol... OMIM:142900
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal... OMIM:300232
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hypospadias, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Broad dis... OMIM:615761
Cog1-Cdg
Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Short neck, Rib fusion,... ORPHA:263508
Arima Syndrome
Proteinuria, Polyuria, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Postaxial foot... OMIM:243910
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple... OMIM:613095
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the ver... ORPHA:2234
Mucopolysaccharidosis Type 4
Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Short thorax, Abnormal... ORPHA:582
Say Syndrome
Ulnar deviation of the 3rd finger, Tapered finger, Proximal renal tubular acidosis, Cystic renal ... OMIM:181180
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Abnormal form of the vertebral bodies, Agenesis of corpus callos... OMIM:194190
Bardet-Biedl Syndrome 9
Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foo... OMIM:615986
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Chondroitin s... OMIM:253010
Basal Cell Nevus Syndrome 1
Vertebral fusion, Down-sloping shoulders, Spina bifida, Kyphoscoliosis, Palmar pits, Hydrocephalu... OMIM:109400
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Pontine Tegmental Cap Dysplasia
Rib fusion, Hemivertebrae, Scoliosis OMIM:614688
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis... ORPHA:157
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib morphology, A... ORPHA:2021
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Hydrocephalus... ORPHA:163966
Joubert Syndrome 15
Micropenis, Preaxial polydactyly, Exencephaly, Nephronophthisis OMIM:614464
Adiposis Dolorosa
Obesity OMIM:103200
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Abnormality of the kidney, Tibial torsion, Aplasia/hypoplasia of the humerus, ... ORPHA:3320
Fanconi Anemia, Complementation Group O
Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Stage 5 chronic... OMIM:613390
Orofaciodigital Syndrome I
Syndactyly, Proteinuria, Pancreatic cysts, Myelomeningocele, Hydrocephalus, Short 2nd toe, Ovaria... OMIM:311200
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology ORPHA:1506
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v... OMIM:228520
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and fusion, Synos... ORPHA:90652
Biemond Syndrome Type 2
Hydrocephalus, Preaxial polydactyly, Hypospadias ORPHA:141333
Duane-Radial Ray Syndrome
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Upper lim... OMIM:607323
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity ORPHA:71529
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Renal hypoplasia/aplasia, Aqueductal stenosis, Hand oligodactyly, Fibular hypo... ORPHA:1788
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Abnormal clavicle morphology, Re... ORPHA:958
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Crossed fused renal ectopia, Overlapping toe, Postaxial polydactyly, Unilateral renal agenesis, P... OMIM:618142
Mckusick-Kaufman Syndrome
Syndactyly, Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Postaxial hand p... OMIM:236700
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short neck, Short ... ORPHA:2756
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Agenesis of corpus callosum, A... OMIM:218600
Endocrine-Cerebroosteodysplasia
Single transverse palmar crease, Micromelia, Preaxial polydactyly, Tibial bowing, Narrow chest, M... OMIM:612651
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Abnormality of the upper urinary tract, Abnormality of the urethra... ORPHA:2145
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch... OMIM:250220
Phelan-Mcdermid Syndrome
Sacral dimple, Abnormality of the kidney, Vesicoureteral reflux, 2-3 toe syndactyly, Large hands,... OMIM:606232
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight OMIM:620065
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... OMIM:200600
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, ... OMIM:611134
Lethal Congenital Contracture Syndrome Type 1
Short neck, Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the vertebral bod... ORPHA:1486
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Abnormal rib morphology, Abnormality o... OMIM:601076
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Hydrocephalus, Red-brown urine, Renal tubular epithel... ORPHA:228308
Achondrogenesis Type 1A
Multiple rib fractures, Micromelia, Short neck, Short thorax, Short foot, Narrow chest, Short pal... ORPHA:93299
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Back pain, Renal cyst OMIM:174050
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Pectus excavatum, Hand polydactyly, Foot polydactyly, Shor... OMIM:258860
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... ORPHA:85167
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Long palm, Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of... ORPHA:2759
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Greenberg Dysplasia
Micromelia, Beaded ribs, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcane... OMIM:215140
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Single transverse palmar crease, Metatarsus adductus, Renal cyst, Epiphyseal stippli... OMIM:614866
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... OMIM:231680
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... OMIM:277170
Bardet-Biedl Syndrome 6
Syndactyly, Renal cyst, Hypospadias, Postaxial polydactyly OMIM:605231
Epidermal Nevus Syndrome
Spinal canal stenosis, Weakness of long finger extensor muscles, Thoracolumbar scoliosis, Polycys... ORPHA:35125
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Vertebral segmentation defect, Multiple renal cysts, Abnormal hip bone ... ORPHA:1166
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Renal Tubular Dysgenesis
Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis, Bilateral single... ORPHA:3033
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... ORPHA:2347
Bardet-Biedl Syndrome 8
Hypospadias, Renal dysplasia, Postaxial polydactyly OMIM:615985
1P36 Deletion Syndrome
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Abnormality of the k... ORPHA:1606
Trisomy 1Q
Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial h... ORPHA:261344
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of the kidney, Unilateral renal agenesis, Short neck, Abnormal rib morphology, Scolio... OMIM:118100
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Distal Deletion 12Q
Broad hallux, Single transverse palmar crease, Overlapping toe, Ectopic kidney, Short neck, Kypho... ORPHA:96149
Grant Syndrome
Bowing of the long bones, Abnormal rib morphology, Abnormal pelvic girdle bone morphology, Narrow... ORPHA:2097
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Hypoplastic iliac wing, Abnormal vertebra... ORPHA:93315
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, Rena... OMIM:616300
Pallister-Hall Syndrome
Ectopic kidney, Hemivertebrae, Holoprosencephaly, Micropenis, Mesoaxial polydactyly, Radial bowin... ORPHA:672
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Nephroblastoma, Polydactyly, Hydrocephalus OMIM:602501
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Beaded ribs, Tibial bowing, Thin ribs, Bell-shaped thorax,... OMIM:166210
Trisomy 13
Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormality of the ureter, Abnorma... ORPHA:3378
Joubert Syndrome 23
Dysplastic corpus callosum, Polydactyly OMIM:616490
Polysyndactyly With Cardiac Malformation
Syndactyly, Preaxial hand polydactyly, Duplication of phalanx of hallux, Renal cyst, Hepatic cysts OMIM:263630
Zttk Syndrome
Polyuria, Unilateral renal agenesis, Dysplastic corpus callosum, Kyphosis, Rib fusion, Small hand... OMIM:617140
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Renal hypoplasia/aplasia, Abnormal ri... ORPHA:2167
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi... ORPHA:175
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Cole-Carpenter Syndrome
Communicating hydrocephalus, Crumpled long bones, Bowing of the long bones, Kyphosis, Abnormal ri... ORPHA:2050
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Anterior ... OMIM:211350
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Thin ribs, ... OMIM:620076
Harrod Syndrome
Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Kyphosis, Abnormal shoulder morphology... ORPHA:2115
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Short neck, Thoracic dysplasia, Narrow chest, Holoprosencephaly, Short palm, ... OMIM:269860
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... ORPHA:93317
Cooper-Jabs Syndrome
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Abno... ORPHA:1488
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Abnormal thorax morphology, Hemive... OMIM:302960
Vater/Vacterl Association
Occipital encephalocele, Ectopic kidney, Preaxial polydactyly, Abnormal sternum morphology, Triph... OMIM:192350
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Vacterl Association With Hydrocephalus
Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Renal hypoplasia, Abnormality... OMIM:276950
Meckel Syndrome, Type 6
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Renal cyst, Hors... OMIM:612284
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Rib fusion, Vesicoureteral reflux, Horseshoe kidney, Cone-shaped epiphysis, Sh... OMIM:157800
Bardet-Biedl Syndrome 3
Renal hypoplasia, Postaxial polydactyly, Brachydactyly OMIM:600151
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Abnormally ossified vertebrae, Missing ribs, Hydrocephalus, Abnorma... ORPHA:3301
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Hydranencephaly, Spina bifida, Kyphosis, Myelomeningocele, Meningoc... ORPHA:1393
Ellis-Van Creveld Syndrome
Hypospadias, Capitate-hamate fusion, Postaxial hand polydactyly, Epispadias, Genu valgum, Postaxi... OMIM:225500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypospadias, Polydactyly, Hypoplastic ischia OMIM:616910
Osteogenesis Imperfecta, Type X
Multiple rib fractures, Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, Mi... OMIM:613848
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Rhizomelia, Beaded ribs, Sho... OMIM:616229
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
22Q11.2 Deletion Syndrome
Arachnodactyly, Hypospadias, Spina bifida, Short neck, Abnormal thorax morphology, Hydrocephalus,... ORPHA:567
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Short femur, Fractured radius, Hypospadias, Decreased fibular diameter, B... OMIM:616897
Frontometaphyseal Dysplasia 1
Limited elbow movement, Increased density of long bone diaphyses, Wrist flexion contracture, Disl... OMIM:305620
Indomethacin Embryofetopathy
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology ORPHA:1909
9Q21.13 Microdeletion Syndrome
Hip dysplasia, Vertebral segmentation defect, Polydactyly, Scoliosis, Hydronephrosis ORPHA:531151
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax, Pectus carinatum... OMIM:612921
Cardioacrofacial Dysplasia 1
Limb undergrowth, Long thorax, Postaxial polydactyly, Genu valgum OMIM:619142
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly of the 5th finge... OMIM:619721
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,... ORPHA:464329
Bardet-Biedl Syndrome 12
Hydroureter, Postaxial hand polydactyly, Postaxial foot polydactyly, Hydronephrosis, Polydactyly,... OMIM:615989
Dysosteosclerosis
Clavicular sclerosis, Sclerotic scapulae, Increased intervertebral space, Flared metaphysis, Abno... OMIM:224300
Marden-Walker Syndrome
Epispadias, Abnormal form of the vertebral bodies, Pectus carinatum, Agenesis of corpus callosum,... ORPHA:2461
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Hyperlordosis, Small hand, Talipes equinovarus, Camptodactyly, Clin... OMIM:619980
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Metaphyseal widening, Abnormal thorax morphology, Abnormal form of the vertebral bodies, Triangul... ORPHA:73230
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encephalocele ORPHA:280195
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Short neck, Triangular shaped distal phalanges of the hand, Abnor... OMIM:271665
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... ORPHA:1517
Laurence-Moon Syndrome
Micropenis, Polydactyly, Abnormality of the hand OMIM:245800
Senior-Loken Syndrome 9
Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Pol... OMIM:616629
Joubert Syndrome 35
Recurrent urinary tract infections, Multicystic kidney dysplasia, Single transverse palmar crease... OMIM:618161
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology, Hypospadias ORPHA:276422
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti... ORPHA:79345
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Postaxial polydactyly, Hydrocephalus, Tubular luminal dilatation, Renal cort... OMIM:219730
Cleidocranial Dysplasia
Hypoplastic scapulae, Down-sloping shoulders, Tapered finger, Abnormal thumb morphology, Abnormal... ORPHA:1452
Pelger-Huet Anomaly
Kyphosis, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Umbilical hernia, Short 4th ... OMIM:169400
Joubert Syndrome 17
Abnormal renal morphology, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Split hand, Short long bo... OMIM:252600
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Trisomy 20P
Finger syndactyly, Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Spina bifida,... ORPHA:261318
Mosaic Trisomy 9
Hypoplasia of penis, Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, ... ORPHA:99776
Isolated Polycystic Liver Disease
Back pain, Multiple renal cysts ORPHA:2924
Joubert Syndrome 27
Dilatation of the renal pelvis, Polydactyly OMIM:617120
Hypophosphatasia
Bowing of the long bones, Abnormal metaphysis morphology, Abnormal rib morphology, Narrow chest ORPHA:436
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St... OMIM:616307
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Hand monodact... OMIM:609945
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry ORPHA:231140
Septooptic Dysplasia
Agenesis of corpus callosum, Polydactyly, Short finger OMIM:182230
Mosaic Trisomy 8
Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Vesicoureteral re... ORPHA:96061
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Hypospadias, Camptodactyly of finger, Ectopic kidney, Metatarsus adductus, Hydr... OMIM:607872
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Kyphosis, Postaxial hand polydactyly, Hydrocephalus, S... ORPHA:2075
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Thoracolumbar scoliosis, Pancreatic cysts, Renal cyst, Polycystic kidney dysplasia, Umbilical hernia OMIM:610199
3P25.3 Microdeletion Syndrome
Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postax... ORPHA:435638
Cerebrocostomandibular Syndrome
Rib gap, Short humerus, 10 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyseal stippl... OMIM:117650
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Kyphosis, Genu valgum, Mucopolysacchari... ORPHA:583
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Short neck, Short metatarsal, Renal cyst, Narrow chest, Nephronophthisis, C... OMIM:266920
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Irregular ver... OMIM:271640
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Thin ribs, Femoral bowing, Biconcave vertebral bodies, Umbilical hernia... OMIM:617952
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Femoral bowing, Pectus carinatum, Foot oligodactyly, Aplasia/Hypoplasi... OMIM:276820
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Pancreatic cysts, Stage 5 chronic kidney disease, Ureteral atresia, Polycyst... OMIM:208540
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... OMIM:200610
Joubert Syndrome 10
Postaxial polydactyly OMIM:300804
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Scapular winging, Down-sloping shoulders, Tapered finger, Renal cyst, Clinodactyly OMIM:615560
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Hydrocephalus, Urethral... OMIM:314390
C Syndrome
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Micromelia, Postaxial hand ... OMIM:211750
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... OMIM:619902
Renpenning Syndrome
Hypospadias, Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodactyly o... ORPHA:3242
Ogden Syndrome
Global glomerulosclerosis, Congenital hip dislocation, Broad hallux, Sandal gap, Metatarsus valgu... OMIM:300855
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ... ORPHA:93324
Focal Dermal Hypoplasia
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Abnormal palmar dermatoglyphics,... ORPHA:2092
Alagille Syndrome
Hypoplasia of the ulna, Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormality of the ure... ORPHA:52
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Hypospadias, Short 5th finger, Polydactyly, Ectrodactyly, Microphallus, Clinodactyly ... ORPHA:397590
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femoral bowing, Ca... OMIM:600920
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Unilateral renal agenesis, Postaxial hand polydactyly, Mu... OMIM:216360
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Slender long bone, Vesicoureteral reflux, Hydronephrosis, Brachydactyly OMIM:618265
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypoplasia of penis, Hyperlordosis, Abnormal rib morphology, Pectus carinatum, Abnormal hip bone ... ORPHA:3068
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Abnormal rib morphology, Micromelia ORPHA:2772
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Retinitis Pigmentosa 51
Polydactyly, Abnormality of the kidney OMIM:613464
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Hydrocephalus, Postaxial polydactyly OMIM:603387
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, Anterior wedging of L... OMIM:253200
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Tarp Syndrome
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Pectus excavatum, Hyp... OMIM:311900
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Arachnodactyly, Unilateral renal agenesis, Absent thumb, Bilateral renal dy... ORPHA:500150
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Delayed epiphyseal ossification, P... OMIM:114290
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Multicystic kidney dysplasia,... ORPHA:1001
Roberts-Sc Phocomelia Syndrome
Short neck, Tetraphocomelia, Phocomelia, Wrist flexion contracture, Syndactyly, Hypoplasia of the... OMIM:268300
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... ORPHA:2519
X-Linked Hypophosphatemia
Shortening of the talar neck, Bowing of the long bones, Bowing of the legs, Beaded ribs, Enlargem... ORPHA:89936
Microgastria-Limb Reduction Defect Syndrome
Abnormal morphology of the radius, Multicystic kidney dysplasia, Renal agenesis, Aplastic clavicl... ORPHA:2538
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Coxa valga, Short tubular bones of the hand, Vertebral arch anomaly, Abnormal diaphysis morpholog... ORPHA:85184
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Pectus excavatum, Hypercalciuria, Renal c... OMIM:615398
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Hydrocephalus, Hemivertebrae, Holoprosencepha... ORPHA:77298
Bardet-Biedl Syndrome
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Short neck, Postaxial hand ... ORPHA:110
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1647
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Short neck, Vertebral segm... ORPHA:373
Monosomy 9Q22.3
Short neck, Palmar pits, Pectus excavatum, Hydrocephalus, Kyphosis, Abnormal rib morphology, Abno... ORPHA:77301
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Femoral bowing, Narrow chest, Vesicoureteral reflux, Abnormality of the wrist, Micropenis, Elbow ... ORPHA:95699
Kinsship Syndrome
Sacral dimple, Single transverse palmar crease, Coxa valga, Short neck, Hip dislocation, Renal hy... OMIM:619297
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Multicystic kidney dysplasia, Meningocele, Renal cyst ORPHA:2031
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Ectopic kidney, Short n... OMIM:122470
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Kyphosis, Thin ribs, Tibial bowing, Slender long bone, Scoliosis, Biconcave ... OMIM:259420
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... OMIM:184705
20P13 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly ORPHA:313781
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Abnormal renal morphology, Abnormal rib morphology, Femo... ORPHA:83
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Tibial bowi... OMIM:610915
Suleiman-El-Hattab Syndrome
Single transverse palmar crease, Polydactyly, Clinodactyly, Hydronephrosis, Brachydactyly OMIM:618950
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Short femur, Metaphyseal spurs, Unilateral renal agenesis, Undulate ... OMIM:618188
Chromosome 3Pter-P25 Deletion Syndrome
Sacral dimple, Overlapping toe, Postaxial polydactyly, Tapered finger, Abnormal renal morphology OMIM:613792
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Fetal megacystis... ORPHA:73246
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Overlapping toe, Single transverse palmar crease, Pectus excavatum, Large placenta, Pro... ORPHA:254528
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Pseudoaminopterin Syndrome
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... ORPHA:221120
Cranioectodermal Dysplasia 3
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Stage 5 ch... OMIM:614099
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased body weight OMIM:614450
Rhombencephalosynapsis
Finger syndactyly, Hydrocephalus, Abnormal renal morphology, Polydactyly, Complete duplication of... ORPHA:59315
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Short neck, Lateral clavicle hook, Preaxial polydactyly, Hypoplastic pubic... OMIM:617925
Gracile Bone Dysplasia
Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Micropenis, Brachydactyly OMIM:602361
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... ORPHA:805
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age ORPHA:293964
Joubert Syndrome 37
Micropenis, Lumbar hyperlordosis, Hydronephrosis, Postaxial polydactyly OMIM:619185
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Arachnodactyly, Hypospadias, Unilateral renal agenesis, Pectus exc... ORPHA:464306
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Pectus excavatum, Hydrocephalus, ... ORPHA:457284
Mckusick-Kaufman Syndrome
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Tarsal synostosis, Renal hyp... ORPHA:2473
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia, Arachnodactyly, Pectus excavatum, Thoracolumbar kyphosis, Hydroceph... OMIM:300373
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst OMIM:617056
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Vesi... ORPHA:2237
Syngap1-Related Developmental And Epileptic Encephalopathy
Hypospadias, Postaxial polydactyly ORPHA:544254
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Bifid femu... ORPHA:2769
Schwartz-Jampel Syndrome
Micromelia, Short neck, Coxa vara, Pectus carinatum, Wrist flexion contracture, Abnormally ossifi... ORPHA:800
Joubert Syndrome 14
Encephalocele, Postaxial polydactyly, Hydrocephalus, Meningocele, Renal cyst OMIM:614424
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Sandal gap, Camptodactyly of finger, Tapered finger, Metatarsus add... ORPHA:261349
Pyknoachondrogenesis
Micromelia, Short iliac bones, Horizontal ribs, Short thorax, Abnormal iliac wing morphology, Poo... ORPHA:3003
Meier-Gorlin Syndrome 1
Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Pectus carinatum, Cutaneous finger synd... OMIM:224690
Chromosome 17Q12 Deletion Syndrome
Long toe, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infect... OMIM:614527
Constricting Bands, Congenital
Encephalocele, Syndactyly, Abnormal rib cage morphology, Hand polydactyly, Talipes equinovarus, S... OMIM:217100
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Metatarsus... ORPHA:2215
Fryns Syndrome
Ureteral duplication, Hypospadias, Single transverse palmar crease, Proximal placement of thumb, ... OMIM:229850
Camptodactyly Syndrome, Guadalajara Type 3
Short neck, Small hand, Abnormal rib morphology, Short foot, Micropenis, Spina bifida occulta, Th... ORPHA:488434
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... ORPHA:730
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Micromelia, Urethrovaginal fistula, Preaxial hand polydactyly, Abnormal pelv... ORPHA:93271
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Hurler Syndrome
Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Hydrocephalus, Abnormality of ... ORPHA:93473
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Short 5th finger, Triphalangea... OMIM:220500
Tarp Syndrome
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Pe... ORPHA:2886
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Postaxial hand polydactyly, Horseshoe kidney, Aplasia of the epiglottis, C... OMIM:617088
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Tapered finger, Pectus excavatum, Kyphosis, Short toe, Re... ORPHA:464311
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Short neck, Hydrocephalus, Renal cyst,... OMIM:257300
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Au-Kline Syndrome
Sacral dimple, Overlapping toe, Thoracolumbar scoliosis, Postaxial polydactyly, Coxa valga, Pectu... OMIM:616580
Jacobsen Syndrome
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Multicystic kidney dysplasia, Spina bifi... ORPHA:2308
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Sacral dimple, Postaxial polydactyly, Renal hypoplasia, Renal cyst, Colpoce... OMIM:618460
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Short metacarpal, Metaphyseal chondrodysplasia, Renal cyst, Horseshoe kidney, Brac... ORPHA:166035
Orofaciodigital Syndrome V
Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Horseshoe kidney, Postaxial foot p... OMIM:174300
Simpson-Golabi-Behmel Syndrome, Type 1
Renal cyst, Pectus carinatum, Vertebral segmentation defect, Narrow greater sciatic notch, Short ... OMIM:312870
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Short neck, Renal cyst, Tibial bowing, Broad ribs, Micropenis, Hypo... ORPHA:798
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial polydactyly, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad distal pha... ORPHA:404440
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Short neck, Abnormal form of the vertebral bodi... ORPHA:818
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Metaphyseal dysplasia, Short metacarpal, Metaphyseal chondrodysplasia, Renal cyst, Horseshoe kidn... OMIM:250410
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Occipital Horn Syndrome
Short humerus, Pelvic bone exostoses, Coxa valga, Broad clavicles, Capitate-hamate fusion, Pectus... OMIM:304150
Genitopatellar Syndrome
Hip contracture, Multicystic kidney dysplasia, Hypoplastic ilia, Patellar aplasia, Radioulnar syn... ORPHA:85201
Townes-Brocks Syndrome
Hypoplasia of penis, Ectopic kidney, Triphalangeal thumb, Vesicoureteral reflux, Clinodactyly of ... ORPHA:857
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Proximal tubulopa... OMIM:614576
Autosomal Recessive Polycystic Kidney Disease
Recurrent urinary tract infections, Renal insufficiency, Pancreatic cysts, Oliguria, Stage 5 chro... ORPHA:731
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Syndactyly, Hypospadias, Aplasia/Hypoplasia of the middl... OMIM:151050
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Osteogenesis Imperfecta
Cervical kyphosis, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal for... ORPHA:666
Mesomelia-Synostoses Syndrome
Ulnar deviation of the hand, Abnormal vertebral morphology, Progressive forearm bowing, Micromeli... OMIM:600383
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Mend Syndrome
Sacral dimple, Overlapping toe, Broad hallux, Long fingers, Hydrocephalus, Kyphosis, 2-3 toe synd... OMIM:300960
Fibrous Dysplasia Of Bone
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Abn... ORPHA:249
Joubert Syndrome 2
Encephalocele, Renal insufficiency, Postaxial hand polydactyly, Hydrocephalus, Renal cyst, Postax... OMIM:608091
Alveolar Echinococcosis
Low back pain, Abnormal pelvis bone morphology, Pancreatic cysts, Renal cyst, Abnormal sternum mo... ORPHA:284
3Mc Syndrome 3
Sacral dimple, Preaxial polydactyly, Horseshoe kidney, Micropenis, Radioulnar synostosis, Clinoda... OMIM:248340
Osteogenesis Imperfecta, Type Vii
Multiple rib fractures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversio... OMIM:610682
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Renal agenesis, Renal hypoplasia/aplasia, Central Y-shaped met... ORPHA:2754
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Single transverse palmar crease, Short neck, Hemivertebrae, Tibial bowing, Narrow chest, Hypoplas... ORPHA:96334
Caroli Disease
Polycystic kidney dysplasia ORPHA:53035
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Short neck, Vesicoureteral reflux, Narrow chest, Clino... ORPHA:2059
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Posterior ri... OMIM:265380
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... ORPHA:97362
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Sacral dimple, Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, Short foot, Hy... OMIM:300968
Smith-Lemli-Opitz Syndrome
Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Partial agenesis of the co... OMIM:270400
Cranioectodermal Dysplasia 2
Syndactyly, Renal insufficiency, Rhizomelia, Short neck, Pectus excavatum, Postaxial hand polydac... OMIM:613610
Acromelic Frontonasal Dysostosis
Encephalocele, Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, ... OMIM:603671
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly OMIM:217095
Bor Syndrome
Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesi... ORPHA:107
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Split hand, Abnormal rib morphology, Scoliosis ORPHA:1300
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Abnormal thumb morphology, Metatarsus adductus, ... ORPHA:500095
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cyst, Talipes equinovarus, Scoliosis... ORPHA:261494
Nabais Sa-De Vries Syndrome, Type 2
Clinodactyly of the 5th finger, Multicystic kidney dysplasia, Tapered finger OMIM:618829
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight OMIM:274300
Orofaciodigital Syndrome Type 1
Finger syndactyly, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Tarsal synosto... ORPHA:2750
Syndromic Diarrhea
Renal hypoplasia, Polycystic kidney dysplasia ORPHA:84064
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Ectopic kidney OMIM:613730
Townes-Brocks Syndrome 1
Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger synda... OMIM:107480
Joubert Syndrome 1
Postaxial hand polydactyly, Renal cyst, Occipital myelomeningocele, Postaxial foot polydactyly, N... OMIM:213300
Myhre Syndrome
Abnormal penis morphology, Brachydactyly, Hypospadias, Epispadias, Abnormal rib morphology, Platy... ORPHA:2588
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst OMIM:611773
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Pectus excavatum, Upper limb undergrowth, Renal cyst, Hypercalciuria, Nephrocalcinosis, Slender l... ORPHA:369837
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Single transverse palmar crease, Short neck, Tibial bowing, Hypo... OMIM:269150
Legius Syndrome
Nephrolithiasis, Diaphyseal dysplasia, Abnormal sternum morphology, Polydactyly, Male urethral me... ORPHA:137605
Narcolepsy 7
Obesity OMIM:614250
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Faciocardiomelic Syndrome
Cuboid-shaped vertebral bodies, Slender long bone, Polydactyly, Narrow chest, Hypoplastic pelvis OMIM:612731
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Long fingers, Kyphosi... OMIM:617527
Trisomy 18
Camptodactyly of finger, Abnormality of the upper urinary tract, Spina bifida, Postaxial hand pol... ORPHA:3380
Hajdu-Cheney Syndrome
Bowing of the long bones, Coarse metaphyseal trabecularization, Brachydactyly, Hypospadias, Short... ORPHA:955
Congenital Sialidosis Type 2
Umbilical hernia, Hydrocephalus, Polydactyly, Abnormality of the kidney ORPHA:93400
Aspergillosis
Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology, Abno... ORPHA:1163
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Renal insufficiency, Multicystic kidney dysplasia, Postaxial hand polyda... ORPHA:1454
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Dextrocardia
Congenital hip dislocation, Hydrocephalus, Abnormal renal morphology, Abnormal rib morphology, Ab... ORPHA:1666
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia OMIM:614922
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Broad hallux, Sandal gap, Tapered finger, Pectus excavatum, H... OMIM:615873
Caroli Syndrome
Abnormality of the kidney, Polycystic kidney dysplasia ORPHA:480520
Developmental Delay With Or Without Dysmorphic Facies And Autism
2-3 toe cutaneous syndactyly, Vesicoureteral reflux, Renal cyst, Renal hypoplasia, Short foot, Mi... OMIM:618454
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Renal cyst, Bell-shaped thorax, Short ribs, Hyperechogeni... OMIM:615636
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Overgrowth, Small for gestational age, Large for gestational age ORPHA:254534
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Proximal renal tubular acidosis, Postaxial polydactyly OMIM:615824
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic cysts, Femoral bowing, Talipes equinovarus, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Miller-Dieker Lissencephaly Syndrome
Sacral dimple, Single transverse palmar crease, Deep palmar crease, Polydactyly, Pelvic kidney, C... OMIM:247200
Pagod Syndrome
Encephalocele, Abnormal clavicle morphology, Multicystic kidney dysplasia, Spina bifida, Renal hy... ORPHA:991
D-Bifunctional Protein Deficiency
Pectus excavatum, Split hand, Renal cyst, Hammertoe, Talipes equinovarus, Thoracic hypoplasia OMIM:261515
Bardet-Biedl Syndrome 1
Syndactyly, Abnormality of the kidney, Postaxial polydactyly, Postaxial hand polydactyly, Postaxi... OMIM:209900
Rubinstein-Taybi Syndrome 1
Single transverse palmar crease, Hypoplastic iliac wing, Prominent fingertip pads, Clinodactyly o... OMIM:180849
Carpenter Syndrome 2
Short digit, Single transverse palmar crease, Postaxial polydactyly, Short neck, Pectus excavatum... OMIM:614976
Monosomy 9P
Hypospadias, Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Postaxial ... ORPHA:261112
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Peroxisome Biogenesis Disorder 4A (Zellweger)
Epiphyseal stippling, Renal cyst OMIM:614862
Retinitis Pigmentosa 74
Abnormal renal morphology, Polydactyly OMIM:616562
Acrocephalopolydactylous Dysplasia
Micromelia, Short neck, Postaxial hand polydactyly, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal cyst, Colpocephaly, Talipes equinovarus, Agenesis of corpus callosum, Renal dysplasia OMIM:617260
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Stage 5 chronic kidney... OMIM:267010
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Recurrent urinary tract infections, Sacral dimple, Hypospadias, Unilateral renal a... ORPHA:268261
Meckel Syndrome
Encephalocele, Ureteral duplication, Bowing of the long bones, Multicystic kidney dysplasia, Panc... ORPHA:564
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
11 pairs of ribs, Communicating hydrocephalus, Multicystic kidney dysplasia, Occipital encephaloc... OMIM:615287
Adnp Syndrome
Recurrent urinary tract infections, Broad hallux, Single transverse palmar crease, Sandal gap, Ur... ORPHA:404448
Branchio-Oculo-Facial Syndrome
Preaxial hand polydactyly, Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Stromme Syndrome
Hydrocephalus, Bilateral renal hypoplasia, Preaxial polydactyly, Agenesis of corpus callosum, Hyd... OMIM:243605
Alagille Syndrome 1
Duplicated collecting system, Hypoplasia of the ulna, Multiple small medullary renal cysts, Abnor... OMIM:118450
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Broad hallux, Epispadias, Postaxial hand polydactyly, Partial agenesis o... OMIM:615948
Axial Osteomalacia
Renal cyst OMIM:109130
Proprotein Convertase 1/3 Deficiency
Obesity OMIM:600955
C Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Sacral dimple, Micromelia, Renal hypoplasia/aplasia... ORPHA:1308
Neuromuscular Oculoauditory Syndrome
Wrist flexion contracture, Multiple renal cysts, Talipes equinovarus, Reduced renal corticomedull... OMIM:618733
Bardet-Biedl Syndrome 20
Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Preaxial foot... OMIM:619471
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Abnormality of the upper limb, S... ORPHA:1556
Smith-Magenis Syndrome
Increased body weight OMIM:182290
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst ORPHA:445038
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Partial agenesis of the corpus callosum, Overlapping toe, Renal cyst OMIM:617478
Cystic Echinococcosis
Renal cyst, Ovarian cyst, Membranous nephropathy, Abnormality of the vertebral column, Hepatic cysts ORPHA:400
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Loeys-Dietz Syndrome 2
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Pectus excavatum, Hydroce... OMIM:610168
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Oculocerebrorenal Syndrome Of Lowe
Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Glomerulopathy, Abnormal rib morphology, Mul... ORPHA:534
Trisomy 10P
Thumb contracture, Abnormality of the kidney, Abnormality of the hand, Short toe, Hemivertebrae, ... ORPHA:171929
Thauvin-Robinet-Faivre Syndrome
Renal dysplasia, Renal malrotation, Bowing of the legs, Renal cyst, Large hands, Nephroblastoma, ... OMIM:617107
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Abnormal preputium morphology, Abnormality of the ure... ORPHA:2907
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Renal cyst OMIM:602579
Tetrasomy 9P
Renal dysplasia, Aplasia/Hypoplasia of the clavicles, Recurrent urinary tract infections, Hypopla... ORPHA:3310
Proteus Syndrome
Hallux valgus, Finger syndactyly, Macrodactyly, Metatarsus valgus, Enlarged polycystic ovaries, K... ORPHA:744
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Increased body weight, Large for gestational age ORPHA:263455
Zellweger Syndrome
Epiphyseal stippling, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis ORPHA:912
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Lumbar hyperlordosis, Hypospadias, Vesicoureteral reflux, Renal cyst, Hip dysplasia, ... OMIM:616975
Congenital Disorder Of Glycosylation, Type Ia
Proteinuria, Kyphosis, Renal cyst, Nephrotic syndrome, Proximal tubulopathy OMIM:212065
Degcags Syndrome
Syndactyly, Recurrent urinary tract infections, Toe syndactyly, Hypospadias, Sacral dimple, Bilat... OMIM:619488
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal curvature of the vertebral column, Vesicoureteral reflux, Abnormality of the cervical sp... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal curvature of the vertebral column, Vesicoureteral reflux, Abnormality of the cervical sp... ORPHA:353277
Craniofacial Microsomia 1
Occipital encephalocele, Multicystic kidney dysplasia, Renal agenesis, Block vertebrae, Ectopic k... OMIM:164210
Distal Deletion 15Q
Multicystic kidney dysplasia, Hypospadias, Single transverse palmar crease, 2-3 toe cutaneous syn... ORPHA:1596
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Aplastic clavicle, Elbow dislocation, ... ORPHA:2554
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Renal cyst ORPHA:79303
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly ORPHA:314655
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts ORPHA:2869
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Short femur, Hypospadias, Methylmalonic aciduria, 3-Methylglutaconic aciduria, Pol... ORPHA:17
Cornelia De Lange Syndrome
Hypoplasia of penis, Micromelia, Proximal placement of thumb, Short neck, Vesicoureteral reflux, ... ORPHA:199
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Avascular necrosis of the capital femoral epiphysis, Heparan sulfat... ORPHA:581
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Postaxial polydactyly, Hip dysplasia, Branchial anomaly, Vertebral segmentation defect, Talipes e... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Postaxial polydactyly, Hip dysplasia, Branchial anomaly, Vertebral segmentation defect, Talipes e... ORPHA:352665
Peroxisome Biogenesis Disorder 1B
Epiphyseal stippling, Hyperoxaluria, Renal cyst OMIM:601539
Insulinoma
Increased body weight ORPHA:97279
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight OMIM:615830
Genitopatellar Syndrome
Hip contracture, Multicystic kidney dysplasia, Congenital hip dislocation, Patellar aplasia, Infe... OMIM:606170
Choanal Atresia
Polydactyly ORPHA:137914
Culler-Jones Syndrome
Micropenis, Postaxial polydactyly OMIM:615849
Penile Agenesis
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... ORPHA:49
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... ORPHA:93111
Williams Syndrome
Hypoplasia of penis, Abnormal tubulointerstitial morphology, Abnormal form of the vertebral bodie... ORPHA:904
Kindler Epidermolysis Bullosa
Urethral stricture, Finger syndactyly, Camptodactyly of finger, Phimosis, Abnormal rib morphology... ORPHA:2908
Sotos Syndrome
Overgrowth, Increased body weight, Tall stature OMIM:117550
Charge Syndrome
Aqueductal stenosis, Abnormal tibia morphology, Abnormal rib morphology, Vesicoureteral reflux, B... ORPHA:138
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Toe syndactyly, Rhizomelia, Renal duplication... ORPHA:709
Mody
Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria ORPHA:552
Rabson-Mendenhall Syndrome
Nephrocalcinosis, Long penis, Polydactyly ORPHA:769
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hallux valgus, Renal dysplasia, Sacral dimple, Congenital hip dislocation, Overlapping toe, Thora... ORPHA:480880
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Postaxial h... OMIM:308205
Fraser Syndrome
Encephalocele, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Multicystic kidney dysplas... ORPHA:2052
Neurocardiofaciodigital Syndrome
Vesicoureteral reflux, Syndactyly, Lateral ventricle dilatation, Polydactyly OMIM:619869
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Broad hallux, Renal agenesis, Absent radius, Short thumb, Partial duplica... OMIM:149730
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Cerebrooculonasal Syndrome
Encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial polydactyly OMIM:605627
Charge Syndrome
Hypoplasia of the ulna, Renal agenesis, Abnormal palmar dermatoglyphics, Down-sloping shoulders, ... OMIM:214800
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Hydrocephalus, Abnormal rib morphology, Narrow chest, Abnormal epiphysi... ORPHA:667
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst ORPHA:488618
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Combined Pituitary Hormone Deficiencies, Genetic Forms
Abnormal digit morphology, Polydactyly, Holoprosencephaly, Osteoporosis of vertebrae, Agenesis of... ORPHA:95494
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... ORPHA:99880
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... ORPHA:143
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Umbilical hernia, Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Branchiooculofacial Syndrome
Hypospadias, Single transverse palmar crease, Proximal placement of thumb, Renal agenesis, Short ... OMIM:113620
Histiocytoid Cardiomyopathy
Hydrocephalus, Agenesis of corpus callosum, Renal cyst, Polycystic ovaries ORPHA:137675
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Urinary incontinence, Calcaneovalgus deformity, Pectus carinatum, Vesicoureteral reflux, Webbed p... ORPHA:261537
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Abnormality of the upper limb, Holoprosencephaly, Clinodactyly of t... ORPHA:1052
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Okamoto Syndrome
Urinary incontinence, Unilateral renal hypoplasia, Hip dysplasia, Polydactyly, Scoliosis, Uretero... ORPHA:2729
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Increased body weight ORPHA:398069
Mullegama-Klein-Martinez Syndrome
Clinodactyly of the 5th finger, Polydactyly, Scoliosis OMIM:301022
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Abdominal obesity, Increased body weight ORPHA:189427
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... OMIM:607932
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Syndactyly, Renal insufficiency, Postaxial polydactyly, Aqueductal stenosis, Hydrocep... OMIM:619534
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Increased body weight ORPHA:264580
Pallister-Killian Syndrome
Congenital hip dislocation, Single transverse palmar crease, Short neck, Renal cyst, Camptodactyl... OMIM:601803
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Calcaneovalgus deformity, Pectus carinatum, Vesicoureteral reflux, Webbed p... ORPHA:261552
Mowat-Wilson Syndrome
Urinary incontinence, Calcaneovalgus deformity, Pectus carinatum, Vesicoureteral reflux, Webbed p... ORPHA:2152
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Tuberous Sclerosis 2
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe... OMIM:613254
Tuberous Sclerosis 1
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst OMIM:191100
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Hydrocephalus, Hematuria, Multiple renal cysts, Renal ang... ORPHA:538
Von Hippel-Lindau Syndrome
Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst OMIM:193300
Von Hippel-Lindau Disease
Back pain, Elevated urinary catecholamine level, Pancreatic cysts, Renal cell carcinoma, Multiple... ORPHA:892
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss ORPHA:2298
Pearson Syndrome
Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Glycosuria ORPHA:699
Beckwith-Wiedemann Syndrome
Ureteral duplication, Large placenta, Nephrolithiasis, Hypercalciuria, Congenital megaureter, Mul... ORPHA:116
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Renal cyst, Short neck ORPHA:495875
Hellp Syndrome
Increased body weight ORPHA:244242
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Cushing Disease
Truncal obesity, Abdominal obesity, Increased body weight ORPHA:96253
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Cushing Syndrome Due To Ectopic Acth Secretion
Truncal obesity, Abdominal obesity, Increased body weight, Weight loss ORPHA:99889
Carney Complex
Abdominal obesity, Increased body weight, Tall stature ORPHA:1359
Pmm2-Cdg
Proteinuria, Kyphoscoliosis, Long fingers, Nephrotic syndrome, Platyspondyly, Multiple renal cyst... ORPHA:79318

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 Ttc21b

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 Ttc21b.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
MetAP2 inhibition reduces food intake and body weight in a ciliopathy mouse model of obesity. JCI insight (January 2020) Ttc21btm2c(KOMP)Wtsi PMC7098713
Aberrant Regulation of Notch3 Signaling Pathway in Polycystic Kidney Disease. Scientific reports (February 2018) Ttc21btm2c(KOMP)Wtsi PMC5820265
Ttc21b Is Required in Bergmann Glia for Proper Granule Cell Radial Migration. Journal of developmental biology (December 2017) Ttc21btm1a(KOMP)Wtsi PMC5831799
Unique spatiotemporal requirements for intraflagellar transport genes during forebrain development. PloS one (March 2017) Ttc21btm2a(KOMP)Wtsi PMC5349613
Dysfunction of intraflagellar transport-A causes hyperphagia-induced obesity and metabolic syndrome. Disease models & mechanisms (May 2016) Ttc21btm2c(KOMP)Wtsi PMC4958314
Downregulating hedgehog signaling reduces renal cystogenic potential of mouse models. Journal of the American Society of Nephrology : JASN (April 2014) Ttc21btm2a(KOMP)Wtsi PMC4178433

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MGI Allele Allele Type Produced
Ttc21btm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ttc21btm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ttc21btm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ttc21btm41267(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ttc21btm41267(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ttc21btm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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