Gene: Ttc21b MGI:1920918

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.

Human diseases associated with Ttc21b (3 diseases)
Human diseases predicted to be associated with Ttc21b (721 diseases)

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

Disease	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	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

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