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Gene: Lasp1 MGI:109656

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

LIM and SH3 protein 1

Synonyms:

SH3P6, Def-4

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 Lasp1 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 Lasp1 (0 diseases)
Human diseases predicted to be associated with Lasp1 (672 diseases)

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

The table below shows human diseases predicted to be associated to Lasp1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Scoliosis, Isolated, Susceptibility To, 1	Scoliosis	OMIM:181800
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly	ORPHA:2956
Spondylosis, Cervical	Osteoarthritis, Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis	OMIM:184300
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae	OMIM:616566
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Testes, Rudimentary	Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia	OMIM:273150
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Cervical Vertebral Dysplasia	Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis...	OMIM:118005
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Spina bif...	OMIM:184400
Autosomal Dominant Spondylocostal Dysostosis	Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Abnormal rib morphology, Cle...	ORPHA:1797
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Scoliosis, Spina bifida oc...	ORPHA:64754
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Limitation of joint mobility, Sacrococcygeal pilonidal abnormality, Hip dislocation, Slender long...	ORPHA:2840
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Spondylocamptodactyly Syndrome	Platyspondyly, Scoliosis	ORPHA:3180
Neural Tube Defects, Susceptibility To	Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin...	OMIM:182940
Rhizomelic Chondrodysplasia Punctata	Abnormality of the dentition, Limitation of joint mobility, Epiphyseal stippling, Abnormal epiphy...	ORPHA:177
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle...	ORPHA:163665
Tibial Torsion, Bilateral Medial	Scoliosis	OMIM:188800
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Brachyolmia Type 1, Hobaek Type	Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph...	OMIM:271530
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Genu valgum, Irreg...	OMIM:609223
White Forelock With Malformations	Finger syndactyly, Deep philtrum, Abnormal rib morphology, Joint hyperflexibility, Clinodactyly o...	ORPHA:2475
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Neuronal Intranuclear Inclusion Disease	Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2289
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Vertebra...	OMIM:617719
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt...	ORPHA:2311
Cleidocranial Dysplasia	High, narrow palate, Coxa vara, Glossoptosis, Hypoplastic inferior ilia, Clinodactyly of the 5th ...	ORPHA:1452
Acrofacial Dysostosis, Catania Type	Carious teeth, Spina bifida occulta, Short palm	OMIM:101805
Pelvis-Shoulder Dysplasia	Back pain, Lumbar hyperlordosis, Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic il...	OMIM:169550
Difference Of Sex Development-Intellectual Disability Syndrome	Short neck, Kyphosis, Genu valgum, Downturned corners of mouth, Reduced bone mineral density, Thi...	ORPHA:2983
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost...	OMIM:609052
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Joint stiffness, Vertebral wedging, Pla...	OMIM:616583
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome	Decreased testicular size	ORPHA:436144
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
Spondylometaphyseal Dysplasia, Corner Fracture Type	Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Hyperconvex vertebral body...	OMIM:184255
Ethanolaminosis	Cardiomegaly	OMIM:227150
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism	OMIM:300428
Fountain Syndrome	Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Craniofacial hyperost...	ORPHA:3219
Three M Syndrome 1	Joint dislocation, Short neck, Hyperlordosis, Increased vertebral height, Thick lower lip vermili...	OMIM:273750
Hypertrichosis, Congenital Generalized	Scoliosis	OMIM:307150
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga	OMIM:271620
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Osteoarthritis With Mild Chondrodysplasia	Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla...	OMIM:604864
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Abnormal form of th...	ORPHA:3104
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Irregularity of vertebral bodies, Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal f...	OMIM:609324
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir...	OMIM:618728
Isochromosomy Yp	Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size	ORPHA:98797
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Short neck, High, narrow palate, Supernumerary tooth, Small hand, Abnormal for...	ORPHA:1787
Isotretinoin Syndrome	Sacral dimple, Spina bifida occulta, Cleft palate	ORPHA:2305
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Thin upper lip vermilion, Osteopenia, Dental crowding, Sandal gap, Short toe, P...	OMIM:617877
Becker Nevus Syndrome	Kyphosis, Abnormal tibia morphology, Rib fusion, Supernumerary ribs, Scoliosis, Spina bifida occulta	ORPHA:64755
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Hyperlordosis, High, narrow palate, Fa...	ORPHA:2780
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Multiple Epiphyseal Dysplasia Type 5	Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnorm...	ORPHA:93311
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspondyly, Delayed o...	OMIM:617974
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Delayed closure of the anterior fontanelle, Lambdoidal craniosynostosis, Scoliosis, Spina bifida ...	OMIM:618736
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Anal stenosis, Abnormal odontoid process morphology, Block vertebrae, Short nec...	OMIM:613686
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Carious t...	ORPHA:2501
Autosomal Dominant Brachyolmia	Increased vertebral height, Platyspondyly, Abnormal metaphysis morphology, Kyphoscoliosis	ORPHA:93304
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ...	ORPHA:399805
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Abn...	ORPHA:85198
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Parastremmatic Dwarfism	Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis	OMIM:168400
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures...	OMIM:156510
Spinocerebellar Ataxia-Dysmorphism Syndrome	Genu recurvatum, Reduced bone mineral density, Downturned corners of mouth, Slender long bone, Jo...	ORPHA:1185
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Craniosynostosis 6	Delayed cranial suture closure, Craniosynostosis, Right unilambdoid synostosis, Scoliosis, Spina ...	OMIM:616602
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Congenital hip dislocation, Femur fracture, Multiple joint contractures, Kyphosis,...	OMIM:618291
Disorganization, Mouse, Homolog Of	Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication, Sacral mening...	OMIM:223200
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip contracture, Abnormality of the knee, Lumbar hyperlordosis, Abnormal intervertebral disk morp...	ORPHA:99642
Gordon Syndrome	Finger syndactyly, Camptodactyly of finger, Limitation of joint mobility, Cleft palate, High pala...	ORPHA:376
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology	OMIM:269630
Pyle Disease	Delayed eruption of teeth, Metaphyseal dysplasia, Persistence of primary teeth, Carious teeth, Me...	OMIM:265900
Acrocraniofacial Dysostosis	Craniosynostosis, Tapered finger, Coxa valga, Cleft palate, Abnormal form of the vertebral bodies...	ORPHA:949
Spondyloepiphyseal Dysplasia, Kimberley Type	Flat capital femoral epiphysis, Platyspondyly, Genu varum, Genu valgum	OMIM:608361
Arthrogryposis, Distal, Type 2A	Joint dislocation, Dental crowding, Short neck, Knee flexion contracture, High palate, Spina bifi...	OMIM:193700
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Spinal cord compression...	OMIM:222600
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Limitation of joint...	ORPHA:2619
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber...	OMIM:156530
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Kyphosis, Abnormal ossification involving the f...	ORPHA:2114
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Enlarged epiphyses, Epiphyseal dysplasia, Pierre-Robin sequence, Premature osteoarthritis, Cleft ...	OMIM:184840
Sprengel Deformity	Abnormal shoulder morphology, Cleft palate, Short neck	ORPHA:3181
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr...	OMIM:614840
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Short neck, High palate, Clinodactyly of the 5...	OMIM:201000
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Thin upper lip vermilion, Abnormal vertebral morphology, Cleft palate, Short neck	ORPHA:2015
Isochromosomy Yq	Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc...	ORPHA:98798
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Spina bifida occulta	ORPHA:1514
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Arthrogryposis, Distal, Type 1C	Pursed lips, Hip contracture, Shoulder flexion contracture, Rocker bottom foot, Short neck, Campt...	OMIM:619110
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnor...	ORPHA:40
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T...	ORPHA:53697
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Vertebra...	OMIM:610967
Czeizel-Losonci Syndrome	Hitchhiker thumb, Thoracolumbar scoliosis, Spina bifida, Myelomeningocele, Hydrocephalus, 2-3 fin...	ORPHA:2437
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Brachyolmia Type 1, Toledo Type	Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica...	OMIM:271630
Spondylometaphyseal Dysplasia, A4 Type	Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm	ORPHA:168555
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla...	ORPHA:1856
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio...	ORPHA:2635
Aase-Smith Syndrome	Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Cleft palate, Aplasia/Hypo...	ORPHA:916
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Vertebr...	ORPHA:1570
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Kyphosis, Dentinogenesis imperfect...	OMIM:259440
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim...	ORPHA:174
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Genu valgum	OMIM:184095
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity	Spina bifida occulta, Tethered cord	OMIM:615281
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the...	OMIM:184250
Brachyolmia, Maroteaux Type	Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:93302
Progressive Pseudorheumatoid Arthropathy Of Childhood	Irregularity of vertebral bodies, Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulde...	ORPHA:1159
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o...	OMIM:609616
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Megalencephaly	Atrial septal defect, Long penis, Macroorchidism	ORPHA:2477
3Mc Syndrome	Craniosynostosis, Hyperlordosis, Hip dislocation, Limited pronation/supination of forearm, Orofac...	ORPHA:293843
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Cleft palate, Upper limb phocomelia, Abnormality of the vertebral column, Polydactyly...	ORPHA:294975
Mucolipidosis Type Iii	Craniofacial hyperostosis, Hyperlordosis, Joint stiffness, Cleft palate, Abnormal form of the ver...	ORPHA:577
Split Cord Malformation Type I	Scoliosis	ORPHA:1671
Partington Syndrome	Macroorchidism	ORPHA:94083
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Vertebral seg...	ORPHA:2631
Progressive Pseudorheumatoid Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos...	OMIM:208230
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor...	OMIM:259450
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical...	OMIM:150250
Catel-Manzke Syndrome	Camptodactyly of finger, Metatarsus valgus, Joint stiffness, Radial deviation of the 2nd finger, ...	ORPHA:1388
Hall-Riggs Syndrome	Metaphyseal dysplasia, Kyphosis, Thick lower lip vermilion, Osteoporosis, Microdontia of primary ...	OMIM:234250
Atelosteogenesis, Type Ii	Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Short neck, Increased intervertebral space, ...	OMIM:256050
Richieri-Costa/Guion-Almeida Syndrome	Spina bifida occulta, Abnormal digit morphology, Cleft palate, Cleft upper lip	OMIM:268850
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphys...	OMIM:177170
Pseudodiastrophic Dysplasia	Elbow dislocation, Platyspondyly, Phalangeal dislocation, Scoliosis	ORPHA:85174
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal metacarpal morphology, Abnormal form of the vertebral bodies, Reduced bone mineral densi...	ORPHA:2370
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h...	ORPHA:52901
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol...	ORPHA:166011
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Camptodactyly of finger, Multiple pterygia, Limitation of joint mobility, Rib ...	ORPHA:2990
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Nemaline Myopathy 9	Arthrogryposis multiplex congenita, Scoliosis, High palate, Cleft palate	OMIM:615731
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Irregular vertebral endplates, Knee dislocation, High palate, Amelogenesis imperfecta, Hyperlordo...	OMIM:618363
Diaphanospondylodysostosis	Short neck, Missing ribs, Myelomeningocele, Cleft palate, Narrow pelvis bone, Absent or minimally...	ORPHA:66637
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metatarsal heads, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Flattened metacarp...	OMIM:271600
Acrofacial Dysostosis, Catania Type	Smooth philtrum, Finger syndactyly, Abnormality of the dentition, Carious teeth, Small hand, Toot...	ORPHA:1786
Classical-Like Ehlers-Danlos Syndrome Type 1	Joint hyperflexibility, Spina bifida occulta, Joint hypermobility	ORPHA:230839
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thin upper lip vermilion, Short lingual frenulum, Joint hypermobility, Downturned corners of mout...	OMIM:617360
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi...	OMIM:612847
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal widening, Den...	OMIM:608940
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of...	OMIM:271650
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Osteoporosis, Cone-shaped epiphysis, Platyspondyly, Short philtrum, De...	ORPHA:71267
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Short neck, Abnormality of the humerus, Wide anterior fon...	ORPHA:3098
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Spondylometaphyseal Dysplasia, X-Linked	Hyperextensibility of the finger joints, Hip contracture, Enlarged joints, Thoracolumbar scoliosi...	OMIM:313420
Frontometaphyseal Dysplasia	Limited elbow movement, Metaphyseal widening, Short metatarsal, Oligodontia, Spina bifida occulta...	ORPHA:1826
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Short neck, Tapered finger, Multiple joint dislocation, Hip...	OMIM:618395
Brachyolmia Type 2	Platyspondyly	OMIM:613678
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Osteopathia striata, Craniofacial osteosclerosis, High palate, Clinodactyly of t...	OMIM:300373
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macroorchidism	OMIM:300238
Fragile X Syndrome	Macroorchidism, postpubertal, Congenital macroorchidism, Mitral valve prolapse	OMIM:300624
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Kyphoscoliosis, Short neck, Irregular, rachitic-like metaphyses, Hypoplasia of t...	OMIM:184252
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Carious teeth, Spinal cord compre...	ORPHA:93346
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Hyperlordosis, Short toe, Osteoarthritis, Abnormality of...	ORPHA:429
Greenberg Dysplasia	Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica...	ORPHA:1426
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carp...	OMIM:620269
Precocious Puberty, Male-Limited	Decreased testicular size, Precocious puberty in males	OMIM:176410
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of...	OMIM:608728
Distal Deletion 10Q	Thin upper lip vermilion, Prominent metopic ridge, Lumbar hyperlordosis, Sandal gap, Craniosynost...	ORPHA:96148
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho...	ORPHA:399808
Isolated Klippel-Feil Syndrome	Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft palate, Abno...	ORPHA:2345
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Fused cervical verteb...	OMIM:619227
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa...	OMIM:613330
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Osteoarthritis, Abnormal epiphysis morphology	ORPHA:93283
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Limit...	OMIM:619598
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morphology, Short...	ORPHA:93351
Orofaciodigital Syndrome Xi	Hypoplasia of the odontoid process, Kyphoscoliosis, Postaxial polydactyly, Cleft palate	OMIM:612913
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Short neck, Downturned corners of mouth, High palate, Thoracic kyphosis, Abnormal bone ossificati...	ORPHA:163649
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Protein-losing entero...	OMIM:235510
Alagille Syndrome	Hypoplasia of the ulna, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:52
Morquio Syndrome C	Platyspondyly	OMIM:252300
Spinal Dysplasia, Anhalt Type	Thoracolumbar scoliosis, Absent spinous processes of lower thoracic and lumbar vertebrae, Narrow ...	OMIM:601344
3Mc Syndrome 1	Sacral dimple, Dental crowding, Single interphalangeal crease of fifth finger, Cleft upper lip, C...	OMIM:257920
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared metaphysis, Co...	OMIM:602111
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon...	ORPHA:2771
Dental Anomalies And Short Stature	Oligodontia, Platyspondyly, Widely spaced teeth, Herniation of intervertebral nuclei, Scoliosis, ...	OMIM:601216
Fragile X Syndrome	Macroorchidism, Gastroesophageal reflux, Mitral valve prolapse	ORPHA:908
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Hemivertebrae, Knee flexion contracture, Anteriorly plac...	OMIM:151050
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Spina bifida occulta	OMIM:618060
Isolated Osteopoikilosis	Syndactyly, Abnormally ossified vertebrae, Abnormal pelvis bone morphology, Increased bone minera...	ORPHA:166119
Osteogenesis Imperfecta, Type Xv	Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios...	OMIM:615220
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Long toe, Arachnodactyly, Cleft lip, Cleft palate, Thoracic kyphosis	OMIM:300263
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c...	OMIM:618469
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Irregular acetabular roof, Irregular iliac crest, Abnormality of the knee,...	ORPHA:93316
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Genu varum, Fibu...	OMIM:602557
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Smith-Mccort Dysplasia 1	Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap...	OMIM:607326
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Cleft palate, Genu valgum, Irregular vertebral endplates, Platyspondyly, Jo...	ORPHA:250984
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi...	OMIM:603546
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Limitation of join...	OMIM:313400
17Q11.2 Microduplication Syndrome	Macroorchidism	ORPHA:139474
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Reduced bone mineral density, Vertebr...	ORPHA:2911
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis...	OMIM:612350
Odontochondrodysplasia 1	Genu recurvatum, Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Ost...	OMIM:184260
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, Cone-shaped epi...	ORPHA:85172
Spondylometaphyseal Dysplasia, Axial	Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspondyly, Narrow...	OMIM:602271
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Rectal prolapse, High palate, Clin...	ORPHA:235
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,...	OMIM:112350
Atkin-Flaitz Syndrome	Macroorchidism	ORPHA:1193
X-Linked Intellectual Disability, Shashi Type	Macroorchidism	ORPHA:85286
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ...	ORPHA:1436
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Mucopolysaccharidosis, Type Iva	Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spaced teeth, A...	OMIM:253000
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Osteoporosis	ORPHA:2786
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Sandal gap, Proximal placement of thumb...	ORPHA:90650
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Abnormal dental...	ORPHA:319195
Duane-Radial Ray Syndrome	Syndactyly, Anal stenosis, Hypoplasia of the ulna, Aganglionic megacolon, Sandal gap, Short humer...	OMIM:607323
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing, Platyspondyly, Scol...	OMIM:126550
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Capitate-hamate fusion, Short toe, Limited elbow extension, Radial head subluxa...	OMIM:614078
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph...	OMIM:184100
Stickler Syndrome Type 1	Osteoarthritis, Cleft palate, Joint hyperflexibility, Platyspondyly, Abnormal epiphysis morpholog...	ORPHA:90653
Gm1-Gangliosidosis, Type Iii	Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypo...	OMIM:230650
X-Linked Intellectual Disability, Abidi Type	Non-midline cleft lip, Scoliosis, Cleft palate	ORPHA:85273
Popliteal Pterygium Syndrome	Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Popliteal pterygium, Cutaneous ...	OMIM:119500
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Multip...	ORPHA:93360
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphy...	ORPHA:157965
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Glossoptosis, Abnorm...	ORPHA:94068
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Syringomyelia, Posterio...	OMIM:122600
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu...	ORPHA:91348
Klippel-Feil Syndrome 2, Autosomal Recessive	Short neck, Cleft upper lip, Cleft palate, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 ve...	OMIM:214300
Diastrophic Dysplasia	Joint dislocation, Proximal placement of thumb, Abnormal form of the vertebral bodies, Symphalang...	ORPHA:628
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism	OMIM:300143
Spondyloepimetaphyseal Dysplasia, Shohat Type	Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo...	ORPHA:8
Pseudodiastrophic Dysplasia	Smooth philtrum, Lumbar hyperlordosis, Phalangeal dislocation, Short neck, Elbow dislocation, Hyp...	OMIM:264180
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ...	ORPHA:324410
Anauxetic Dysplasia 1	Short neck, Thoracic kyphosis, Short palm, Cervical cord compression, Microdontia, Joint laxity, ...	OMIM:607095
Brachyolmia Type 3	Short neck, Spinal cord compression, Kyphosis, Proximal femoral metaphyseal irregularity, Platysp...	OMIM:113500
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t...	OMIM:183900
Maxillonasal Dysplasia	Aplasia/Hypoplasia of the distal phalanges of the toes, Open bite, Vertebral clefting, Cleft pala...	ORPHA:1248
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Sandal gap, Cervical kyphosis, Short neck, Tombstone...	OMIM:108721
Mucopolysaccharidosis Type 4	Joint dislocation, Bowing of the long bones, Abnormal dental enamel morphology, Abnormality of th...	ORPHA:582
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Increased intervertebral space, Hypoplastic vertebral bodies,...	OMIM:224300
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost...	OMIM:251450
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Anteriorly placed anus, High palate, Spina bifida oc...	OMIM:218600
Kniest Dysplasia	Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal ...	OMIM:156550
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Short metatarsal, Coxa vara, Deformed humeral heads, Platyspondy...	OMIM:601438
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Lumbar hyperlordosis, Enlarged joints, Large tarsal bones, Pierre-Robin seq...	OMIM:215150
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Proximal placement of thumb, Short neck, Abnormal rib morphology, Downt...	ORPHA:93267
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex, Femoral bowing, Platyspondyly, Thoracic kyphosis, Wormian bones, Short 4th meta...	OMIM:619638
Odontochondrodysplasia	Delayed eruption of teeth, Bowing of the long bones, Coxa valga, Cone-shaped epiphysis, Joint hyp...	ORPHA:166272
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Short neck, Cleft upper lip, Cleft palate, Clinodactyly o...	OMIM:244600
Osteogenesis Imperfecta, Type Xix	Osteopenia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Vertebral wedgi...	OMIM:301014
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Short neck, Abnormal rib morphology, Small hand, Short foot, Spina bifida occulta, Th...	ORPHA:488434
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnor...	ORPHA:1427
Arthrogryposis, Distal, Type 3	Lumbar hyperlordosis, Congenital hip dislocation, Thoracolumbar scoliosis, Kyphoscoliosis, Short ...	OMIM:114300
Townes-Brocks Syndrome 2	Scoliosis, Spina bifida occulta, Rectovaginal fistula, Anal atresia	OMIM:617466
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Increased intervertebral space, Thoracic platyspondyly, Met...	OMIM:618961
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia...	ORPHA:2347
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	Overlapping toe, Cleft palate, High palate, Scoliosis, Open mouth	OMIM:620021
Lujan-Fryns Syndrome	Atrial septal defect, Macroorchidism	ORPHA:776
Schneckenbecken Dysplasia	Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Anterior rib...	OMIM:269250
Limb Body Wall Complex	Encephalocele, Broad hallux, Aplasia/hypoplasia involving bones of the upper limbs, Spina bifida,...	ORPHA:2369
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Absent radius, Preaxial hand polydactyly, Hypoplasia...	ORPHA:233
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal dental enamel ...	ORPHA:464
Osteogenesis Imperfecta, Type Xxi	Recurrent fractures, Bowing of the legs, Coxa valga, Osteoporosis, Coxa vara, Platyspondyly, Scol...	OMIM:619131
Osteogenesis Imperfecta, Type Viii	Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat...	OMIM:610915
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Abnormal sacrum morphology, Abnormal rib morphology, Rib f...	ORPHA:1988
Diamond-Blackfan Anemia 1	11 pairs of ribs, Short neck, Cleft upper lip, Short thumb, Absent thumb, Hypoplastic ilia, Parti...	OMIM:105650
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Loeys-Dietz Syndrome 6	Arachnodactyly, Knee osteoarthritis, High palate, Scoliosis, Hip osteoarthritis, Intervertebral d...	OMIM:619656
Zimmermann-Laband Syndrome 1	Delayed eruption of teeth, Hyperextensibility of the finger joints, Short distal phalanx of toe, ...	OMIM:135500
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac...	OMIM:609162
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho...	OMIM:309620
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim...	OMIM:203500
Ollier Disease	Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis, Platyspond...	ORPHA:296
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphysea...	OMIM:300863
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol...	OMIM:614856
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Narrow pelvis bone, Irregular vertebral ...	OMIM:187760
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, High palate, Hyperlo...	OMIM:226980
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Recurrent fractu...	OMIM:616229
Rhizomelic Chondrodysplasia Punctata, Type 1	Calcific stippling of infantile cartilaginous skeleton, Kyphoscoliosis, Flexion contracture, Flar...	OMIM:215100
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Short metacarpal, Enlarged joints, Kyphoscoliosis, Flexion contracture...	ORPHA:263463
Mucopolysaccharidosis, Type Ivb	Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spaced teeth, Flaring of ri...	OMIM:253010
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Diastema, Open bite, Genu valgum, Platy...	OMIM:619698
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Femoral bowing, Increased susceptibil...	OMIM:609220
Stickler Syndrome, Type I	Arthropathy, Arachnodactyly, Joint stiffness, Kyphosis, Irregular femoral epiphysis, Submucous cl...	OMIM:108300
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism	ORPHA:3077
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Elevated circulating growth hormone concentration	ORPHA:85327
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea	OMIM:614858
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Prominent metopic ridge, Kyphosis, Cleft palate, Short philtrum, Scoliosis	ORPHA:85317
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp...	OMIM:300232
Fibrochondrogenesis 2	Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, Platyspondyly, Short...	OMIM:614524
Desbuquois Dysplasia 2	Dental crowding, Short neck, Metaphyseal widening, Knee dislocation, Short phalanx of finger, Bif...	OMIM:615777
Clark-Baraitser syndrome	Macroorchidism	OMIM:300602
Smith-Mccort Dysplasia 2	Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Hyperlordosis, Short neck,...	OMIM:615222
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i...	ORPHA:457395
Vertebral Hypersegmentation And Orofacial Anomalies	Submucous cleft hard palate, Unilateral cleft lip, Supernumerary ribs, Six lumbar vertebrae, Unil...	OMIM:619122
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, High palate, Hypoplastic ilia...	ORPHA:93315
Geroderma Osteodysplastica	Recurrent fractures, Vertebral compression fracture, Hip dislocation, Abnormal form of the verteb...	ORPHA:2078
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Short neck, Bowing of the legs, Deep philtrum, Met...	OMIM:255800
Cantu Syndrome	Broad hallux, Ovoid vertebral bodies, Short hallux, Short neck, Coxa valga, Metaphyseal widening,...	OMIM:239850
Doors Syndrome	Short lingual frenulum, Hemivertebrae, Abnormal finger morphology, Downturned corners of mouth, W...	ORPHA:79500
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre...	OMIM:146110
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Elbow dislocation, Kyphosis, Po...	ORPHA:2916
Van Esch-O'Driscoll Syndrome	Sacral dimple, Esophageal atresia, Tracheoesophageal fistula, Downturned corners of mouth, Wide m...	OMIM:301030
Cole-Carpenter Syndrome 2	Osteopenia, Wide cranial sutures, Recurrent fractures, Kyphosis, Hydrocephalus, Thin ribs, Platys...	OMIM:616294
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo...	OMIM:223800
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes	ORPHA:3055
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate...	OMIM:228520
Kbg Syndrome	Thin upper lip vermilion, Vertebral fusion, Persistent open anterior fontanelle, Macrodontia, Sho...	ORPHA:2332
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Platyspondyly, Abnormal intervertebral disk morphology, Osteoarthritis, Joint stiffness	ORPHA:1345
Anauxetic Dysplasia 3	Short metacarpal, Thoracolumbar kyphoscoliosis, Joint hypermobility, Spinal cord compression, Wid...	OMIM:618853
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Abnormal de...	ORPHA:1782
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Short neck, Hyperlordosis, Li...	OMIM:615065
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Polycystic ovaries	ORPHA:284180
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Joint laxity, Thin upper lip vermilion, Toe syndactyly, Craniosynostosis, 4-5 toe syndactyly, 3-5...	OMIM:300707
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures, Vertebral wed...	OMIM:610968
Microphthalmia, Isolated 4	Absent testis	OMIM:613094
Attrv30M Amyloidosis	Cardiomegaly, Diarrhea, Cardiomyopathy, Impotence, Constipation	ORPHA:85447
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m...	OMIM:187601
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Abnormal carpal morphology, Cleft palate, Hypopla...	ORPHA:85166
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Broad ribs, Iliac crest serration, Hypoplasia of...	ORPHA:239
Joubert Syndrome 18	Joint laxity, Occipital encephalocele, Trident pelvis, Bowing of the long bones, Kyphoscoliosis, ...	OMIM:614815
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Metaphyseal widening, Flexion contracture, Short metatarsal, Coxa vara, High p...	ORPHA:93307
Camptodactyly Syndrome, Guadalajara, Type Iii	Short neck, Spina bifida occulta, Absent phalangeal crease, Camptodactyly, Joint contracture of t...	OMIM:611929
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short metacarpal, Thoracolumbar ...	OMIM:616723
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Flexion contracture, Short palm, Hypoplastic iliac w...	OMIM:611717
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Joint stiffness, Cleft palate, Tooth agenesis, Vertebral segmentation defect, Abnormal hip bone m...	ORPHA:1166
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Downturned corners...	ORPHA:2107
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac...	OMIM:259420
Focal Dermal Hypoplasia	Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anteriorly placed anus, Oligod...	OMIM:305600
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Non-midline cleft lip, Abnormal femur morphology, Cleft pal...	ORPHA:3429
Pycnodysostosis	Brachydactyly, Increased bone mineral density, Persistent open anterior fontanelle, Wormian bones...	OMIM:265800
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Thin long bone diaphyses, Kyphoscoliosis, Recurrent fractures, Hip d...	OMIM:616507
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Vertebr...	OMIM:231070
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu...	OMIM:166210
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Hydrocephalus, Abnormality of the calcaneus...	ORPHA:163966
Polyembryoma	Macroorchidism, Irregular menstruation, Isosexual precocious puberty	ORPHA:180229
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Leopard Syndrome 1	Kyphoscoliosis, Missing ribs, Short neck, Limited elbow movement, Cleft palate, Cubitus valgus, S...	OMIM:151100
Rubinstein-Taybi Syndrome 1	Dental crowding, High, narrow palate, Flexion contracture, High palate, Hypoplastic iliac wing, P...	OMIM:180849
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Hypopla...	OMIM:615349
Larsen Syndrome	Finger syndactyly, Brachydactyly, Craniosynostosis, Large joint dislocations, Accessory carpal bo...	ORPHA:503
Coffin-Siris Syndrome 1	Conical tooth, Prominent interphalangeal joints, Short philtrum, High palate, Microdontia, Promin...	OMIM:135900
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Cardiomegaly	ORPHA:88643
Anophthalmia Plus Syndrome	Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, Deviation of f...	ORPHA:1104
Lowry-Wood Syndrome	Epiphyseal dysplasia, Joint stiffness, Elbow dislocation, Coxa vara, Irregular epiphyses, Platysp...	ORPHA:1824
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Macroorchidism, Male hypogonadism	OMIM:300055
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate, Abnormal vertebral mo...	ORPHA:261272
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Postaxial polydactyly, Missing r...	OMIM:617866
Orofaciodigital Syndrome Iii	Kyphosis, Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Postaxial foot polydac...	OMIM:258850
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Adrenal hyperplasia, Male pseudohermaphroditism, Vomiting, Macroorchidism,...	ORPHA:90790
Klippel-Feil Syndrome 1, Autosomal Dominant	Short neck, Abnormal rib morphology, Cleft palate, Scoliosis, Cervical C2/C3 vertebral fusion, Ab...	OMIM:118100
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Disc-like vertebral bodies, Radial bowing, Ovoid vertebral bodies, Dumbbell-shaped long bone, Sho...	OMIM:151210
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs...	OMIM:271520
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Cleft upper ...	OMIM:312150
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Beaded ribs, Short neck, Decre...	OMIM:616897
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Combined Oxidative Phosphorylation Deficiency 47	Toe syndactyly, Short neck, Platyspondyly, Cone-shaped epiphyses of the distal phalanges of the h...	OMIM:618958
Osteogenesis Imperfecta, Type Iv	Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increased susceptibility to fractur...	OMIM:166220
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Abnormality of the vertebral column, Short 5th...	OMIM:239800
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contr...	OMIM:271640
Short Stature And Facioauriculothoracic Malformations	Abnormal odontoid process morphology, Short neck, Cleft upper lip, Cleft palate, High palate, Cer...	OMIM:609654
Becker Nevus Syndrome	Cervical ribs, Hemivertebrae, Scoliosis	OMIM:604919
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl...	OMIM:601356
Holzgreve Syndrome	Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Joi...	ORPHA:2167
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Short neck, Wide distal femoral metaphysis, Deep philtrum, Delayed epiphys...	OMIM:613320
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio...	ORPHA:2712
Pelvis-Shoulder Dysplasia	Syndactyly, Aplasia/Hypoplasia of the ribs, Lumbar hyperlordosis, Camptodactyly of finger, Spina ...	ORPHA:2839
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ...	OMIM:311300
Oculoauriculofrontonasal Syndrome	Encephalocele, Cleft lip, Cleft palate, Scoliosis, Narrow mouth, Broad philtrum	ORPHA:398156
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Hydroce...	OMIM:187600
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Short neck, Coxa v...	ORPHA:1517
Mohr Syndrome	Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndactyly, Accessory ...	OMIM:252100
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Cleft upper lip, Conical tooth, M...	OMIM:263750
Atelosteogenesis Type I	Joint dislocation, Short femur, Malrotation of colon, Abnormal ossification involving the femoral...	ORPHA:1190
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Hypospadias, Mitral valve prolapse	OMIM:618874
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Vertebral fusion, Hip contracture, Tarsal synostosis, Elbow contracture, Short neck, Craniosynost...	OMIM:178110
8Q24.3 Microdeletion Syndrome	Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Short neck, Cleft maxillary alveo...	ORPHA:508488
Osteogenesis Imperfecta, Type X	Osteopenia, Multiple rib fractures, Thoracic scoliosis, Short femur, Bowing of the long bones, Jo...	OMIM:613848
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Lumbar interpedicular narrowing, ...	OMIM:271510
Bent Bone Dysplasia Syndrome 2	Osteopenia, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Thin ribs, Coronal cleft ver...	OMIM:620076
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Lumbar hyperlordosis, Short neck, Metaphyseal widening, Irregular epiphyses, Platys...	OMIM:612813
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Osteopenia, Wormian bones, Recurrent fractures, Hydrocephalus, Coron...	OMIM:112240
Gm1-Gangliosidosis, Type Ii	Protruding tongue, Coxa valga, Joint stiffness, Gingival overgrowth, Hypoplastic vertebral bodies...	OMIM:230600
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration, Precocious pu...	ORPHA:562
Hypophosphatasia, Infantile	Craniosynostosis, Bowing of the legs, Abnormality of the dentition, Vertebral clefting, Increased...	OMIM:241500
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Pyloric stenosis, Small hand, Cleft palate, Short foot, High palate, Short philtrum, Scoliosis, N...	ORPHA:96184
Dystonia-Deafness Syndrome 1	Hypoplastic scapulae, Kyphoscoliosis, Femoral retroversion, Cleft upper lip, Cleft palate	OMIM:607371
Verheij Syndrome	Branchial cyst, Thin upper lip vermilion, Vertebral fusion, Joint laxity, Short neck, Hemivertebr...	OMIM:615583
Acropectorovertebral Dysplasia	Finger syndactyly, Tarsal synostosis, Spina bifida, Camptodactyly of finger, High, narrow palate,...	ORPHA:957
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen...	OMIM:300106
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal thumb morphology, Metatarsus adductus, Tibial bowing, Macroglossia, Abnormal femoral tor...	ORPHA:500095
Frontometaphyseal Dysplasia 1	Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Knee flexion contracture, In...	OMIM:305620
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Short middle phalanx of the 2nd finger, High, narrow palate,...	OMIM:119600
Spondylo-Ocular Syndrome	Abnormal intervertebral disk morphology, Short neck, Osteoporosis, Joint hyperflexibility, Platys...	ORPHA:85194
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Short neck, Wide anterior fontanel, Abnormal rib m...	ORPHA:2021
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Anterior rib cupping,...	OMIM:211350
Noonan Syndrome With Multiple Lentigines	Spina bifida occulta, Scoliosis	ORPHA:500
Omodysplasia 2	Short humerus, Tented upper lip vermilion, Bilateral cleft lip, Short 1st metacarpal, Cleft palat...	OMIM:164745
Achondrogenesis, Type Ii	Absent vertebral body mineralization, Broad long bones, Short tubular bones of the hand, Cleft pa...	OMIM:200610
Seckel Syndrome 5	11 pairs of ribs, Selective tooth agenesis, Cleft palate, Oligodontia, High palate, Hypodontia, S...	OMIM:613823
Acromesomelic Dysplasia 4	Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Lumb...	OMIM:619636
Trisomy 8Q	Camptodactyly of finger, Short neck, Joint stiffness, Non-midline cleft lip, Myelomeningocele, Bo...	ORPHA:1752
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Toe syndactyly, Aplastic ...	ORPHA:1512
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Larsen-Like Syndrome	Joint laxity, Joint dislocation, Kyphoscoliosis, Wide anterior fontanel, Dental malocclusion, Cle...	OMIM:608545
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:253290
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Protrusio acetabuli...	ORPHA:284984
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Kyphoscoliosis, Coxa valga, Platyspon...	OMIM:617425
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger...	OMIM:186500
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Macroorchidism, Ventricular septal defect	OMIM:309520
Hemochromatosis, Type 1	Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Azoosper...	OMIM:235200
Thanatophoric Dysplasia	Joint stiffness, Abnormal sacroiliac joint morphology, Hydrocephalus, Kyphosis, Joint hyperflexib...	ORPHA:2655
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Bicoronal synostosis, Dental crowding, Joint stiffness, Tracheobronchomalacia, ...	OMIM:619184
Thanatophoric Dysplasia Type 2	Encephalocele, Kyphosis, Hydrocephalus, Limitation of joint mobility, Joint hyperflexibility, Pla...	ORPHA:93274
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Broad long bones, Short neck, Hydrocephalus, Metaphyseal...	OMIM:224400
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Primary amenorrhea, Azoospermia, Hypogonadism, In...	OMIM:229070
Williams Syndrome	Osteopenia, Rectal prolapse, Abnormal form of the vertebral bodies, Vertebral segmentation defect...	ORPHA:904
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Ovoid vertebral bodies, Metaphyseal ...	ORPHA:85167
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Oligodontia, Calvarial osteosclerosis, Cleft soft palate, Gingival overgrowth, U...	OMIM:616331
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Short neck, Bowing of the legs, Triangular shaped distal phalanges of the hand, Abnormal calcific...	OMIM:271665
Trisomy 20P	Short neck, Abnormal form of the vertebral bodies, Reduced bone mineral density, Downturned corne...	ORPHA:261318
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Downturne...	OMIM:265000
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Broad long bones, Hypoplastic ischia, Short neck, Bowing of the legs, Hypoplastic ...	ORPHA:1865
Braddock-Carey Syndrome 1	Hyperlordosis, Clinodactyly, Pierre-Robin sequence, Small hand, Cleft palate, Anteriorly placed a...	OMIM:619980
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of the ulna, Hamartoma of ...	OMIM:613091
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f...	OMIM:618652
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Flexion contracture, Widely spaced teeth, Narrow greater sciatic notc...	OMIM:253220
3Q29 Microdeletion Syndrome	Dental crowding, Abnormality of the dentition, Tapered finger, Orofacial cleft, Joint hyperflexib...	ORPHA:65286
Marshall Syndrome	Knee osteoarthritis, Clinodactyly of the 5th finger, Small proximal tibial epiphyses, Thick upper...	OMIM:154780
15Q14 Microdeletion Syndrome	Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, Scoliosis, Long philtrum, S...	ORPHA:261190
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Syndactyly, Brachydactyly, Intestinal malrotation, Velopharyngeal insuf...	OMIM:614701
Achondroplasia	Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great...	OMIM:100800
Autosomal Dominant Popliteal Pterygium Syndrome	Thin upper lip vermilion, Finger syndactyly, Toe syndactyly, Lip pit, Joint stiffness, Non-midlin...	ORPHA:1300
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Vomiting, Cardiomegaly	OMIM:600649
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Joint stiffness, Hypoplastic ilia, Wide anterior fontanel,...	ORPHA:1860
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Short neck, Multiple joint dislocation, Knee dislocation, Shoulder dislocation, Micro...	OMIM:245600
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Spinal cord...	OMIM:618150
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Metaphyseal widening, Multiple joint dislocation, High p...	ORPHA:536467
Otopalatodigital Syndrome Type 2	Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral segmentation and ...	ORPHA:90652
Atelosteogenesis Type Ii	Cervical kyphosis, Short neck, Tracheobronchomalacia, Short phalanx of finger, Hypoplastic cervic...	ORPHA:56304
Peters Plus Syndrome	Intestinal fistula, Thin upper lip vermilion, Sacral dimple, Exaggerated cupid's bow, Toe syndact...	ORPHA:709
Campomelic Dysplasia	Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ...	ORPHA:140
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Delayed...	OMIM:619269
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Tented upper lip vermilion, Kyphosis, Hydrocephalus, Metaphyseal wideni...	OMIM:618476
Lateral Meningocele Syndrome	Vertebral fusion, Tethered cord, Dental crowding, Joint hypermobility, Short neck, Kyphosis, Hydr...	OMIM:130720
Enlarged Parietal Foramina	Occipital encephalocele, Craniosynostosis, Cleft lip, Myelomeningocele, Cleft palate, Short clavi...	ORPHA:60015
Basal Cell Nevus Syndrome 1	Vertebral fusion, Odontogenic keratocysts of the jaw, Short distal phalanx of the thumb, Down-slo...	OMIM:109400
Myhre Syndrome	Short palm, Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Submucous cleft hard palat...	ORPHA:2588
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Joint laxity, Delayed closure of...	OMIM:607812
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Abnormality of the vertebral column, Abnormal rib morphology, Cleft palate, Cleft upper lip	OMIM:601076
Waardenburg Syndrome, Type 1	Spina bifida, Myelomeningocele, Orofacial cleft, Supernumerary ribs, Supernumerary vertebrae, Smo...	OMIM:193500
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Thin bony cortex, Dental crowding, Recurrent fractures, ...	OMIM:309583
Isolated Thyroid-Stimulating Hormone Deficiency	Pituitary hypothyroidism, Constipation, Macroorchidism, Thyroid hypoplasia, Increased circulating...	ORPHA:90674
Atelosteogenesis, Type I	Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Encephalocel...	OMIM:108720
Nail-Patella Syndrome	Back pain, Lumbar hyperlordosis, Glenoid fossa hypoplasia, Spina bifida, Cleft upper lip, Patella...	OMIM:161200
Cerebrofaciothoracic Dysplasia	Short neck, Cleft upper lip, Hemivertebrae, Rib fusion, Cleft palate, Wide mouth, Vertebral segme...	ORPHA:1394
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Multiple joint contractures, Metaphyseal widening, Generalized joi...	ORPHA:536471
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Short neck, Hypoplas...	ORPHA:3144
Cousin Syndrome	Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, ...	OMIM:260660
Cdags Syndrome	Delayed cranial suture closure, Sagittal craniosynostosis, Rectourethral fistula, Kyphosis, Cleft...	OMIM:603116
Knobloch Syndrome 1	Occipital encephalocele, Pyloric stenosis, Occipital meningocele, Spina bifida occulta, Joint hyp...	OMIM:267750
Osteogenesis Imperfecta, Type I	Osteopenia, Biconcave flattened vertebrae, Recurrent fractures, Femoral bowing, Increased suscept...	OMIM:166200
Frontorhiny	Encephalocele, Lumbar hyperlordosis, Camptodactyly of finger, Cleft palate, Finger clinodactyly, ...	ORPHA:391474
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Sandal gap, Hamartoma of tongu...	OMIM:174300
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f...	OMIM:272460
Opsismodysplasia	Short palm, Short metacarpal, Anterior rib cupping, Short neck, Hypoplasia of the odontoid proces...	OMIM:258480
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Lenz-Majewski Hyperostotic Dwarfism	High, narrow palate, Abnormal finger morphology, Symphalangism affecting the phalanges of the han...	ORPHA:2658
Greenberg Dysplasia	Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomel...	OMIM:215140
Contractures-Developmental Delay-Pierre Robin Syndrome	Arachnodactyly, Thoracolumbar scoliosis, Overlapping toe, Metatarsus adductus, High, narrow palat...	ORPHA:436003
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Abnormality of t...	OMIM:612394
2Q31.1 Microdeletion Syndrome	Short neck, Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, Vertebral segm...	ORPHA:251014
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha...	OMIM:250220
Occipital Horn Syndrome	Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormal...	ORPHA:198
Oculoauricular Syndrome	Short mandibular rami, Spina bifida occulta	OMIM:612109
Campomelic Dysplasia	Irregular dentition, Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Delayed epiph...	OMIM:114290
3Mc Syndrome 2	Joint hypermobility, Limited elbow movement, Cleft upper lip, Craniosynostosis, Hip dislocation, ...	OMIM:265050
Cerebrocostomandibular Syndrome	Spina bifida, Tracheomalacia, Kyphosis, Myelomeningocele, Meningocele, Posterior rib gap, Cleft p...	ORPHA:1393
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Postaxial hand polydactyl...	ORPHA:2752
Scarf Syndrome	Craniosynostosis, Short neck, Abnormal form of the vertebral bodies, Joint hyperflexibility, Shor...	ORPHA:3134
Congenital Toxoplasmosis	Hepatomegaly, Diarrhea, Cardiomegaly	ORPHA:858
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Flat capital femoral ...	OMIM:147891
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, Ti...	OMIM:259770
Van Den Ende-Gupta Syndrome	Dental crowding, Glenoid fossa hypoplasia, High, narrow palate, 2-3 toe cutaneous syndactyly, Fem...	OMIM:600920
Microphthalmia With Limb Anomalies	Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, High pala...	ORPHA:1106
Genitopalatocardiac Syndrome	Kyphosis, Non-midline cleft lip, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Downtur...	ORPHA:2075
Schwartz-Jampel Syndrome	Short neck, Coxa vara, High palate, Wrist flexion contracture, Pursed lips, Abnormally ossified v...	ORPHA:800
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Diarrhea, Cardiomyopathy, Vomiting, Endocardial fibroelastosis, Hyper...	OMIM:212140
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius,...	ORPHA:2476
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Craniosynostosis, Hyperlordosi...	ORPHA:794
Campomelia, Cumming Type	Abnormally ossified vertebrae, Bowing of the long bones, Abnormal rib morphology, Cleft palate, C...	ORPHA:1318
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Short neck, Cleft palate, Hi...	OMIM:616038
49,Xxxyy Syndrome	External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l...	ORPHA:261534
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Anteriorly placed anus, Glossoptosis, High palate, Clinodactyly of th...	OMIM:117650
Carney Complex	Leydig cell neoplasia, Ovarian serous cystadenoma, Abnormal sperm motility, Precocious puberty, O...	ORPHA:1359
Infantile Liver Failure Syndrome 3	Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver...	OMIM:618641
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Abnormal tibia morphology, Flexion co...	ORPHA:666
Central Precocious Puberty In Male	Pituitary microadenoma, Abnormality of the testis size, Precocious puberty in males	ORPHA:649929
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Aplastic clavicle, Tarsal synostos...	ORPHA:85199
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Delayed closure of the ...	OMIM:303600
Pentalogy Of Cantrell	Encephalocele, Non-midline cleft lip, Hydrocephalus, Anencephaly, Abnormal tibia morphology, Clef...	ORPHA:1335
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Cleft lip, Abnormal spinal cord morphology, Kyphosis, S...	ORPHA:1724
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Short iliac bones, Increased interve...	OMIM:607944
Momo Syndrome	Delayed eruption of teeth, Short neck, Thick lower lip vermilion, Dental malocclusion, Femoral bo...	ORPHA:2563
Osteoglophonic Dysplasia	Osteopenia, Short neck, Short metatarsal, Eruption failure, High palate, Short palm, Short phalan...	OMIM:166250
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Joint dislocation, Genu recurvatum, Flexion contracture, Bifid uvula, Dislocated radi...	OMIM:130070
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Increased bone mineral density, Aplastic...	ORPHA:50945
Familial Atrial Myxoma	Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly	ORPHA:615
Meier-Gorlin Syndrome 1	Genu recurvatum, Flat glenoid fossa, Hemivertebrae, Flexion contracture, Cutaneous finger syndact...	OMIM:224690
Gm1 Gangliosidosis Type 1	Spatulate ribs, Gingival overgrowth, Hypoplastic vertebral bodies, Macroglossia, Platyspondyly, F...	ORPHA:79255
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Joint laxity, Short neck, Thick lower lip vermilion, Flared metaphysis, Advanced ossification of ...	OMIM:610442
Loeys-Dietz Syndrome 3	Joint laxity, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Cr...	OMIM:613795
Sponastrime Dysplasia	Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Generalized joint lax...	ORPHA:93357
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Splenomegaly, Diarrhea, Asymmetric septal hypertrophy	OMIM:252920
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi...	OMIM:304120
Occipital Horn Syndrome	Joint laxity, Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Hiatus h...	OMIM:304150
Native American Myopathy	Joint laxity, Cleft palate, Abnormal curvature of the vertebral column, Downturned corners of mou...	ORPHA:168572
Duplication Of The Pituitary Gland	Encephalocele, Thoracic scoliosis, Abnormal odontoid process morphology, Abnormality of joint mob...	ORPHA:314621
Gm1 Gangliosidosis	Camptodactyly of finger, Hyperlordosis, Joint stiffness, Narrow mouth, Kyphosis, Gingival overgro...	ORPHA:354
Myhre Syndrome	Short neck, Short philtrum, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Cleft lip, Shor...	OMIM:139210
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dysraphism, Sirenomelia, Bifid stern...	ORPHA:63260
Infantile Sialic Acid Storage Disease	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:269920
Alpha-N-Acetylgalactosaminidase Deficiency	Constipation, Gastroesophageal reflux, Cardiomegaly	ORPHA:3137
Microcephaly-Micromelia Syndrome	Craniosynostosis, Short neck, Aqueductal stenosis, Absent thumb, Absent radius, Humeroradial syno...	OMIM:251230
Craniotubular Dysplasia, Ikegawa Type	Short palm, Metaphyseal dysplasia, Thin bony cortex, Increased intervertebral space, Thick lower ...	OMIM:619727
Momo Syndrome	Delayed eruption of teeth, Short neck, Thick lower lip vermilion, Dental malocclusion, Taurodonti...	OMIM:157980
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ...	OMIM:300280
Atypical Werner Syndrome	Sclerosis of hand bone, Increased bone mineral density, Rocker bottom foot, Limitation of joint m...	ORPHA:79474
Schimke Immunoosseous Dysplasia	Osteopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Platyspondyly, Thoracic kyp...	OMIM:242900
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxi...	OMIM:263520
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto...	ORPHA:251510
Stickler Syndrome	Joint dislocation, Osteoarthritis, Abnormal form of the vertebral bodies, Reduced bone mineral de...	ORPHA:828
Melnick-Needles Syndrome	Delayed eruption of teeth, Short humerus, Hypoplastic scapulae, Anterior concavity of thoracic ve...	OMIM:309350
Scarf Syndrome	Short neck, Abnormal form of the vertebral bodies, Coronal craniosynostosis, Short sternum, Lambd...	OMIM:312830
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing...	OMIM:268305
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Short neck, Aplasia of the ulna, High, narrow palate, Ab...	ORPHA:2879
Cardiofacioneurodevelopmental Syndrome	Cleft lip, Kyphosis, Cleft palate, Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly	OMIM:619123
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Hemivertebrae, Dysplastic sacrum, Absent vertebr...	OMIM:134780
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Mulibrey Nanism	Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly	OMIM:253250
You-Hoover-Fong Syndrome	Kyphoscoliosis, Accessory oral frenulum, Cleft palate, Clinodactyly, Brachydactyly	OMIM:616954
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Precocious puberty, Chronic constipation, Macroorchidism, Gastroesophageal reflux	OMIM:619950
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Meier-Gorlin Syndrome 7	2-4 finger syndactyly, Joint laxity, Anal stenosis, Sagittal craniosynostosis, Bowing of the legs...	OMIM:617063
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Cardiomegaly, Gastroesophageal reflux, Hypertrophic card...	OMIM:201475
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Diarrhea, Vomiting, Cardiomegaly	ORPHA:42
Constricting Bands, Congenital	Encephalocele, Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Scoliosis	OMIM:217100
Spondyloocular Syndrome	Long toe, Osteopenia, Duodenal ulcer, Arachnodactyly, Femur fracture, Abnormality of the dentitio...	OMIM:605822
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614702
Catel-Manzke Syndrome	Joint dislocation, Short neck, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid u...	OMIM:616145
Aicardi Syndrome	Intestinal polyposis, Block vertebrae, Hiatus hernia, Cleft upper lip, Malabsorption, Missing rib...	ORPHA:50
Attrv122I Amyloidosis	Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R...	ORPHA:85451
49,Xyyyy Syndrome	External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l...	ORPHA:99330
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Infertil...	ORPHA:465508
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Abnormal rib morphology, C...	ORPHA:93317
Schimke Immuno-Osseous Dysplasia	Lumbar hyperlordosis, Wide capital femoral epiphyses, Ovoid vertebral bodies, Short neck, Abnorma...	ORPHA:1830
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Joint dislocation, Congenital hip dislocation, Dental crowding, Arachno...	OMIM:225400
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Neuraminidase Deficiency	Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly	OMIM:256550
Digeorge Syndrome	Pilonidal sinus, High, narrow palate, Cleft palate, High palate, Short philtrum, Scoliosis, Patel...	OMIM:188400
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Kyphosis,...	ORPHA:1855
Simpson-Golabi-Behmel Syndrome, Type 1	Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, Exaggerated median tongu...	OMIM:312870
Mogs-Cdg	Hepatomegaly, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, Ch...	ORPHA:79330
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Diarrhea, Cardiomegaly	OMIM:255120
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Holoprosencephaly 13, X-Linked	Median cleft lip, Alobar holoprosencephaly, Submucous cleft hard palate, Vertebral clefting, Clef...	OMIM:301043
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Wide anterior fontanel, Hydrocephalus, Kyphosis, Femoral bowing, Tibial bow...	OMIM:616482
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Diarrhea, Cardiomyopathy, Impotence, Constipation, Episodic vomiting	OMIM:105210
Timothy Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly	OMIM:601005
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Osteopenia, Joint laxity, Thickened ribs, Craniosynostosis, Short ne...	ORPHA:309282
Oculocerebrorenal Syndrome Of Lowe	Dental crowding, Deep philtrum, Gingivitis, Periodontitis, Abnormal dental enamel morphology, Ost...	ORPHA:534
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Dysphagia, Cardiomegaly	ORPHA:391428
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Long penis, O...	ORPHA:744
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Short neck, Metaphyseal widening, Irregular vertebral endplates, Met...	ORPHA:99646
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, H...	OMIM:602782
Sandhoff Disease	Hepatomegaly, Cardiomegaly, Chronic diarrhea, Hepatosplenomegaly, Impotence	OMIM:268800
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Aspartylglucosaminuria	Macroorchidism, Hepatomegaly, Diarrhea	OMIM:208400
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,...	OMIM:231005
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Short neck, Humeroradial synostosis, Ovoid thoracolumbar vertebr...	ORPHA:3404
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart val...	ORPHA:363705
Refsum Disease, Classic	Cardiomyopathy, Cardiomegaly	OMIM:266500
Combined Oxidative Phosphorylation Deficiency 33	Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly	OMIM:617713
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Aspartylglucosaminuria	Splenomegaly, Hepatomegaly, Macroorchidism	ORPHA:93
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Hepatomegaly, Cardiomegaly	ORPHA:99931
Sickle Cell Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Cholelithiasis, Priapism	OMIM:603903
Developmental And Epileptic Encephalopathy 95	Cryptorchidism, Hepatomegaly, Constipation, Cardiomegaly	OMIM:618143
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Osteomalacia, Wrist swelling, Kyphosis, Hip dislocation, Rickets, Genu v...	OMIM:309000
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Chronic diarrhea, ...	OMIM:614921
Arterial Calcification, Generalized, Of Infancy, 2	Right atrial enlargement, Cardiomegaly	OMIM:614473
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Cardiomegaly, Diarrhea, Dilated cardiomyopathy, Vomiting, Enlarged kidney	OMIM:608836
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Short neck, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydactyly, Femoral b...	OMIM:210710
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e...	ORPHA:57777
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial...	ORPHA:96191
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect, Cardiomegaly	OMIM:617022
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla...	OMIM:130650
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Dysphagia	OMIM:608013
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Abnormal pelvic girdle bone morphology, Platyspondyly, Anterior rib cupping, Growth arrest lines	OMIM:102700
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch...	OMIM:300967
Fontaine Progeroid Syndrome	Thin upper lip vermilion, Syndactyly, Craniosynostosis, Protruding tongue, High, narrow palate, H...	OMIM:612289
Pseudo-Torch Syndrome 3	Cardiomegaly	OMIM:618886
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Fucosidosis	Hepatomegaly, Cardiomegaly	ORPHA:349
Cystic Echinococcosis	Hepatomegaly, Ovarian cyst, Abnormality of the testis size, Abnormal heart morphology	ORPHA:400
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Dysphagia, Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Ogden Syndrome	Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum...	OMIM:300855
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Cardiomegaly	OMIM:619259
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:308552
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Polycystic ovaries, Vomiting	ORPHA:137675
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Splenomegaly, Dysphagia, Abnormal aortic valve morphology, Constipati...	ORPHA:581
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Cardiomegaly	ORPHA:158687
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly	ORPHA:228308
Bohring-Opitz Syndrome	Cardiomegaly, Abnormal cardiac septum morphology, Vomiting, Cholelithiasis, Annular pancreas	ORPHA:97297
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Fucosidosis	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:230000
Liver Disease, Severe Congenital	Hepatomegaly, Chronic gastritis, Ventricular septal defect, Left atrial enlargement, Hypospadias,...	OMIM:619991
Abetalipoproteinemia	Hepatomegaly, Cardiomegaly, Chronic diarrhea, Vomiting, Steatorrhea	ORPHA:14
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Diarrhea, Hepatosplenomegaly	OMIM:618278
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly	ORPHA:2463
Glycogen Storage Disease Ii	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:232300
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial...	ORPHA:1677
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Abnormal pancreas morphology, Pseudohyp...	ORPHA:116
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney	OMIM:252500
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Bowel incontinence, Cardiomegaly, Dysphagia, Left ventricular hypertrophy, Hypertro...	ORPHA:365
Yunis-Varon Syndrome	Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Hypoplastic labia majora, C...	ORPHA:3472
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Cardiomegaly, Splenomegaly, Epididymitis, Irregular menstruation, Chronic constipat...	OMIM:256040
Aicardi-Goutières Syndrome	Hepatosplenomegaly, Hypertrophic cardiomyopathy, Micropenis, Cardiomegaly	ORPHA:51
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega...	ORPHA:75565
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Myocardial calcification, Vomiting, ...	ORPHA:51608
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis...	OMIM:182250

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 Lasp1

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 Lasp1.

No publications found that use IMPC mice or data for Lasp1.

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MGI Allele	Allele Type	Produced
Lasp1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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