Phenotypes for disease #05517 (skeletal dysplasia (dysplasia, skeletal))

408 entries on 5 pages. Showing entries 1 - 100.
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AscendingPhenotype ID     
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0000154687 - - - Familial, autosomal recessive - - - - - Katta M Girisha 00204189
0000249507 skeletal dysplasia Craniosynostosis syndromes Hip dysplasia, Metopic synostosis, Global developmental delay, Patent ductus arteriosus, Umbi NO Familial, autosomal dominant - - - - - LOVD 00331315
0000249508 skeletal dysplasia Disorganized development of skeletal components group Ectopic ossification, Triangular face, Ptosis, Microtia, Overfolded helix, Foot polydactyly Yes Familial, autosomal dominant - - - - - LOVD 00331316
0000249509 skeletal dysplasia Acromelic dysplasias Short stature, Abnormality of the eye Familial, autosomal recessive - - - - - LOVD 00331317
0000249510 skeletal dysplasia Acromelic dysplasias Short stature, Bilateral ptosis, Deep palmar crease, Low-set ears, Hypertelorism, Hemangi No Familial, autosomal recessive - - - - - LOVD 00331318
0000249511 skeletal dysplasia Acromelic dysplasias Aortic valve stenosis, Neonatal inspiratory stridor, Seizures, Brachydactyly, Limited elbow No Familial, autosomal recessive - - - - - LOVD 00331319
0000249512 skeletal dysplasia Abnormal mineralization group Low-set ears, Redundant skin, Narrow chest, Generalized bone demineralization Familial, autosomal recessive - - - - - LOVD 00331320
0000249513 skeletal dysplasia Genetic inflammatory/rheumatoid-like osteoarthropathies Bilateral talipes equinovarus, Limb joint contracture, Limitation of joint mobility, ThickeneYes Familial, autosomal recessive - - - - - LOVD 00331321
0000249514 skeletal dysplasia Genetic inflammatory/rheumatoid-like osteoarthropathies Long philtrum, Rectal prolapse, Low-set ears, Depressed nasal bridge, Micrognathia, Thin vNo Familial, autosomal recessive - - - - - LOVD 00331322
0000249515 skeletal dysplasia Genetic inflammatory/rheumatoid-like osteoarthropathies Failure to thrive, Intractable diarrhea, Limb joint contracture, Limitation of joint mobility, No Familial, autosomal recessive - - - - - LOVD 00331323
0000249516 skeletal dysplasia Genetic inflammatory/rheumatoid-like osteoarthropathies Arthrogryposis multiplex congenita, Hip dysplasia, Global developmental delay, Hypoalbu No Familial, autosomal recessive - - - - - LOVD 00331324
0000249517 skeletal dysplasia Genetic inflammatory/rheumatoid-like osteoarthropathies Arthrogryposis multiplex congenita Familial, autosomal recessive - - - - - LOVD 00331325
0000249518 skeletal dysplasia - Syndactyly, Polydactyly, Short stature, Marked delay in eruption of permanent teeth, Dep No Familial, autosomal recessive - - - - - LOVD 00331326
0000249519 skeletal dysplasia Lysosomal Storage Diseases with Skeletal Involvement (dysostosis multiplex group) Short stature Familial, autosomal recessive - - - - - LOVD 00331327
0000249520 skeletal dysplasia Lysosomal Storage Diseases with Skeletal Involvement (dysostosis multiplex group) Dandy-Walker malformation, Hydrocephalus, Kyphosis, Strabismus, Hypermetropia, AbnoYes Familial, autosomal recessive - - - - - LOVD 00331328
0000249521 skeletal dysplasia Dysplasias with multiple joint dislocations Recurrent fractures, Delayed gross motor development, Blue sclerae, Short stature, KyphoYes Familial, autosomal recessive - - - - - LOVD 00331329
0000249522 skeletal dysplasia Dysplasias with multiple joint dislocations Delayed gross motor development, Osteopenia, Abnormal facial shape, Micrognathia, BluNo Familial, autosomal recessive - - - - - LOVD 00331330
0000249523 skeletal dysplasia Dysplasias with multiple joint dislocations Multiple joint dislocation, Distal arthrogryposis, Aortic valve stenosis, Prominent foreheadYes Familial, autosomal recessive - - - - - LOVD 00331331
0000249524 skeletal dysplasia Dysplasias with multiple joint dislocations Hypotonia, Abnormal facial shape, Cutis laxa, Wide anterior fontanel, Hypotonia, Talipes eNo Familial, autosomal recessive - - - - - LOVD 00331332
0000249525 skeletal dysplasia Dysplasias with multiple joint dislocations Blue sclerae, Severe short stature, Mitral regurgitation, Joint laxity, Joint dislocation, Kyp Yes Familial, autosomal recessive - - - - - LOVD 00331333
0000249526 skeletal dysplasia - Short stature, Hypermetropia, Strabismus, Rhizomelia, Micrognathia, Generalized joint la No Familial, autosomal recessive - - - - - LOVD 00331334
0000249527 skeletal dysplasia - Retinal dystrophy, Short stature, Narrow chest, Short ribs, Horizontal ribs, Skeletal dysplaYes Familial, autosomal recessive - - - - - LOVD 00331335
0000249528 skeletal dysplasia - Retinal dystrophy, Short stature, Narrow chest Familial, autosomal recessive - - - - - LOVD 00331336
0000249529 skeletal dysplasia Osteopetrosis and related disorders Osteopetrosis, Intellectual disability, Failure to thrive, eczema, Recurrent infections, PersisYes Familial, autosomal recessive - - - - - LOVD 00331337
0000249530 skeletal dysplasia Osteopetrosis and related disorders Recurrent fractures, Renal tubular acidosis, Intellectual disability, Cerebral calcification, HyNo Familial, autosomal recessive - - - - - LOVD 00331338
0000249531 skeletal dysplasia Osteopetrosis and related disorders Osteopetrosis Familial, autosomal recessive - - - - - LOVD 00331339
0000249532 skeletal dysplasia Dysplasias with multiple joint dislocations Skeletal dysplasia, Macrocephaly at birth, Short stature, Wide anterior fontanel Familial, autosomal recessive - - - - - LOVD 00331340
0000249533 skeletal dysplasia Dysplasias with multiple joint dislocations Brachydactyly, Acromelia, Bilateral talipes equinovarus, Micrognathia, Narrow palpebral fi Yes Familial, autosomal recessive - - - - - LOVD 00331341
0000249534 skeletal dysplasia Dysplasias with multiple joint dislocations Skeletal dysplasia, Low-set ears, Abnormality of the pinna, Depressed nasal bridge, ProptNo Familial, autosomal recessive - - - - - LOVD 00331342
0000249535 skeletal dysplasia Dysplasias with multiple joint dislocations Short long bones, IUGR, Polyhydramnios, Narrow chest Familial, autosomal recessive - - - - - LOVD 00331343
0000249536 skeletal dysplasia Dysplasias with multiple joint dislocations Severe short stature, Multiple joint dislocation Familial, autosomal recessive - - - - - LOVD 00331344
0000249537 skeletal dysplasia Dysplasias with multiple joint dislocations Limb undergrowth, Narrow chest, Neonatal respiratory distress, Round face, MicrognathiaNo Familial, autosomal recessive - - - - - LOVD 00331345
0000249538 skeletal dysplasia Polydactyly-Syndactyly-Triphalangism group Hydrocephalus, Occipital encephalocele, Polycystic kidney dysplasia Familial, autosomal recessive - - - - - LOVD 00331346
0000249539 skeletal dysplasia Polydactyly-Syndactyly-Triphalangism group Breathing dysregulation, Generalized hypotonia, Abnormal facial shape, Nystagmus, Glob No Familial, autosomal recessive - - - - - LOVD 00331347
0000249540 skeletal dysplasia Polydactyly-Syndactyly-Triphalangism group Hydrocephalus, Failure to thrive, Renal insufficiency, Global developmental delay, Molar t No Familial, autosomal recessive - - - - - LOVD 00331348
0000249541 skeletal dysplasia Ectrodactyly with/without other manifestations Ectrodactyly, Macular dystrophy Familial, autosomal recessive - - - - - LOVD 00331349
0000249542 skeletal dysplasia Ectrodactyly with/without other manifestations Rod-cone dystrophy, Abnormal facial shape, Ectrodactyly Familial, autosomal recessive - - - - - LOVD 00331350
0000249543 skeletal dysplasia Ciliopathies with major skeletal involvement Stillbirth, Skeletal dysplasia, Polydactyly, Narrow chest, Limb undergrowth, Syndactyly, CeNo Familial, autosomal recessive - - - - - LOVD 00331351
0000249544 skeletal dysplasia Ciliopathies with major skeletal involvement Narrow chest, Abnormal facial shape, Relative macrocephaly, Hypertelorism, Median cleft No Familial, autosomal recessive - - - - - LOVD 00331352
0000249545 skeletal dysplasia Polydactyly-Syndactyly-Triphalangism group Global developmental delay, Oculomotor apraxia, Molar tooth sign on MRI, Retinal dystroNo Familial, autosomal recessive - - - - - LOVD 00331353
0000249546 skeletal dysplasia Polydactyly-Syndactyly-Triphalangism group Generalized hypotonia, Global developmental delay, Visual impairment, Nystagmus, MolaNo Familial, autosomal recessive - - - - - LOVD 00331354
0000249547 skeletal dysplasia Polydactyly-Syndactyly-Triphalangism group Intrauterine growth retardation, Microcephaly, Occipital encephalocele, Anencephaly, Pul Yes Familial, autosomal recessive - - - - - LOVD 00331355
0000249548 skeletal dysplasia Polydactyly-Syndactyly-Triphalangism group Retinal dystrophy, Nephronophthisis, Molar tooth sign on MRI Familial, autosomal recessive - - - - - LOVD 00331356
0000249549 skeletal dysplasia Polydactyly-Syndactyly-Triphalangism group Global developmental delay, Molar tooth sign on MRI Familial, autosomal recessive - - - - - LOVD 00331357
0000249550 skeletal dysplasia Polydactyly-Syndactyly-Triphalangism group Global developmental delay, Molar tooth sign on MRI Familial, autosomal recessive - - - - - LOVD 00331358
0000249551 skeletal dysplasia Sulphation disorders group Intellectual disability, Hearing impairment, Ectrodactyly, Joint laxity Familial, autosomal recessive - - - - - LOVD 00331359
0000249552 skeletal dysplasia Sulphation disorders group Short stature, Knee dislocation, Congenital bilateral hip dislocation, Downslanted palpebr Yes Familial, autosomal recessive - - - - - LOVD 00331360
0000249553 skeletal dysplasia Osteopetrosis and related disorders Blindness, Recurrent fractures, Osteopetrosis, Dolichocephaly Familial, autosomal recessive - - - - - LOVD 00331361
0000249554 skeletal dysplasia collagen group, type 2 Global Developmental delay, Short stature, Hearing impairment, Abnormal facial shape, HNo Familial, autosomal recessive - - - - - LOVD 00331362
0000249555 skeletal dysplasia collagen group, type 2 Flat face Familial, autosomal dominant - - - - - LOVD 00331363
0000249556 skeletal dysplasia collagen group, type 2 Tractional retinal detachment Familial, autosomal dominant - - - - - LOVD 00331364
0000249557 skeletal dysplasia collagen group, type 11 Micromelia, Abnormal facial shape Familial, autosomal recessive - - - - - LOVD 00331365
0000249558 skeletal dysplasia collagen group, type 11 Sensorineural hearing impairment, Limb undergrowth, Relative macrocephaly, Narrow cheNo Familial, autosomal recessive - - - - - LOVD 00331366
0000249559 skeletal dysplasia Osteogenesis imperfecta and decreased bone density group Osteopenia, Recurent fractures Familial, autosomal dominant - - - - - LOVD 00331367
0000249560 skeletal dysplasia Osteogenesis imperfecta and decreased bone density group Osteopenia Familial, autosomal dominant - - - - - LOVD 00331368
0000249561 skeletal dysplasia Osteogenesis imperfecta and decreased bone density group Osteopenia, Recurent fractures, Tibial bowing, Bowing of the legs Familial, autosomal dominant - - - - - LOVD 00331369
0000249562 skeletal dysplasia Osteogenesis imperfecta and decreased bone density group Osteopenia , Recurrent fractures Familial, autosomal dominant - - - - - LOVD 00331370
0000249563 skeletal dysplasia Osteogenesis imperfecta and decreased bone density group Muscular hypotonia, Microcephaly, Osteopenia, Abnormal facial shape, Failure to thrive, I Yes Familial, autosomal dominant - - - - - LOVD 00331371
0000249564 skeletal dysplasia Osteogenesis imperfecta and decreased bone density group Reduced bone mineral density, Bowing of the long bones Familial, autosomal dominant - - - - - LOVD 00331372
0000249565 skeletal dysplasia Osteogenesis imperfecta and decreased bone density group Recurrent fractures, Triangular face, Blue sclerae, Micrognathia, High, narrow palate Familial, autosomal dominant - - - - - LOVD 00331373
0000249566 skeletal dysplasia Osteogenesis imperfecta and decreased bone density group Recurrent fractures, Multiple prenatal fractures, Blue sclerae, Small face Familial, autosomal dominant - - - - - LOVD 00331374
0000249567 skeletal dysplasia Osteogenesis imperfecta and decreased bone density group Recurrent fractures, Osteoporosis Familial, autosomal dominant - - - - - LOVD 00331375
0000249568 skeletal dysplasia Osteogenesis imperfecta and decreased bone density group Recurrent fractures, Triangular face, Abnormality of the dentition Familial, autosomal dominant - - - - - LOVD 00331376
0000249569 skeletal dysplasia collagen group, type 2 Tractional retinal detachment Familial, autosomal dominant - - - - - LOVD 00331377
0000249570 skeletal dysplasia collagen group, type 2 Disproportionate short stature, Scoliosis, Metaphyseal dysplasia, Inguinal hernia, Myopia Yes Familial, autosomal dominant - - - - - LOVD 00331378
0000249571 skeletal dysplasia collagen group, type 2 Non-Arab ( Short stature, Frontal bossing, Plagiocephaly, Short neck, Failure to thrive Familial, autosomal dominant - - - - - LOVD 00331379
0000249572 skeletal dysplasia collagen group, type 2 Non-Arab ( Osteopenia, Kyphosis, Plagiocephaly, Recurrent fractures Familial, autosomal dominant - - - - - LOVD 00331380
0000249573 skeletal dysplasia collagen group, type 2 Skeletal dysplasia, Short stature Familial, autosomal dominant - - - - - LOVD 00331381
0000249574 skeletal dysplasia collagen group, type 2 Inflammatory abnormality of the skin, Finger swelling Familial, autosomal dominant - - - - - LOVD 00331382
0000249575 skeletal dysplasia Multiple epiphyseal dysplasia andpseudoachondroplasia group Non-Arab ( Short stature Familial, autosomal dominant - - - - - LOVD 00331383
0000249576 skeletal dysplasia Rachydactylies (with extraskeletal manifestations) Cryptorchidism, Elbow flexion contracture, Global developmental delay, Hirsutism, Under No Familial, autosomal dominant - - - - - LOVD 00331384
0000249577 skeletal dysplasia Rachydactylies (with extraskeletal manifestations) Intellectual disability, Severe short stature Familial, autosomal dominant - - - - - LOVD 00331385
0000249578 skeletal dysplasia Rachydactylies (with extraskeletal manifestations) Intellectual disability, Severe short stature, Abnormal facial shape Familial, autosomal dominant - - - - - LOVD 00331386
0000249579 skeletal dysplasia Osteogenesis imperfecta and decreased bone density group Skeletal dysplasia, Wide anterior fontanel, Micrognathia, Hand polydactyly, Narrow chest,Yes Familial, autosomal recessive - - - - - LOVD 00331387
0000249580 skeletal dysplasia Osteogenesis imperfecta and decreased bone density group Osteopenia , Recurrent fractures Familial, autosomal recessive - - - - - LOVD 00331388
0000249581 skeletal dysplasia Osteopetrosis and related disorders Osteopetrosis, Frontal bossing, Depressed nasal bridge, Acromesomelia, Pectus carinatumNo Familial, autosomal recessive - - - - - LOVD 00331389
0000249582 skeletal dysplasia Osteopetrosis and related disorders Osteopetrosis, Short stature, Deviated nasal septum, Abnormality of the dentition Familial, autosomal recessive - - - - - LOVD 00331390
0000249583 skeletal dysplasia Slender bone dysplasia group Cutis laxa, Joint laxity, Global developmental delay, Failure to thrive, Proportionate short No Familial, autosomal recessive - - - - - LOVD 00331391
0000249584 skeletal dysplasia Slender bone dysplasia group Joint laxity, Midface retrusion, Depressed nasal bridge, Thick vermilion border, Prominent Yes Familial, autosomal recessive - - - - - LOVD 00331392
0000249585 skeletal dysplasia Slender bone dysplasia group Severe short stature, Feeding difficulties, Triangular face, Broad forehead, Wide nose, Mal Yes Familial, autosomal recessive - - - - - LOVD 00331393
0000249586 skeletal dysplasia Slender bone dysplasia group Short stature, Abnormal heart morphology, Osteopenia, Midface retrusion, Depressed nasno Familial, autosomal recessive - - - - - LOVD 00331394
0000249587 skeletal dysplasia Slender bone dysplasia group Short stature, Abnormal facial shape, Failure to thrive Familial, autosomal recessive - - - - - LOVD 00331395
0000249588 skeletal dysplasia - Short stature, Brachydactyly, Hypoplastic toes Familial, autosomal recessive - - - - - LOVD 00331396
0000249589 skeletal dysplasia Dysostoses with predominant vertebral with/without costal involvement Short stature, Scoliosis, Short neck, Skeletal dysplasia, Pectus excavatum, Failure to thriveNo Familial, autosomal recessive - - - - - LOVD 00331397
0000249590 skeletal dysplasia Dysostoses with predominant vertebral with/without costal involvement Neonatal respiratory distress, Kyphoscoliosis, Genu recurvatum, Hemivertebrae, Severe MYes Familial, autosomal recessive - - - - - LOVD 00331398
0000249591 skeletal dysplasia Dysostoses with predominant vertebral with/without costal involvement Scoliosis, Pectus carinatum, Short neck, Short stature, Hemivertebrae, Block vertebrae Familial, autosomal recessive - - - - - LOVD 00331399
0000249592 skeletal dysplasia Ectrodactyly with/without other manifestations Ectrodactyly, Abnormal nails, Hearing impairment Familial, autosomal recessive - - - - - LOVD 00331400
0000249593 skeletal dysplasia Rachydactylies (with extraskeletal manifestations) Brachydactyly, Small nail Familial, autosomal recessive - - - - - LOVD 00331401
0000249594 skeletal dysplasia Rachydactylies (with extraskeletal manifestations) Global developmental delay, Seizures, Blindness, Microcephaly, Aplasia cutis congenita of No Familial, autosomal recessive - - - - - LOVD 00331402
0000249595 skeletal dysplasia Rachydactylies (with extraskeletal manifestations) Aplasia cutis congenita, Depressed nasal bridge, Bulbous nose, Single transverse palmar crYes Familial, autosomal recessive - - - - - LOVD 00331403
0000249596 skeletal dysplasia Spondylo-epi-(meta)-physeal dysplasias (SE(M)D) Non-Arab ( Disproportionate short stature, Microcephaly, Pectus carinatum, Spinal canal stenosis, WiYes Familial, autosomal recessive - - - - - LOVD 00331404
0000249597 skeletal dysplasia Spondylo-epi-(meta)-physeal dysplasias (SE(M)D) Non-Arab ( Intellectual disability, Short stature, Pectus carinatum, Failure to thrive Familial, autosomal recessive - - - - - LOVD 00331405
0000249598 skeletal dysplasia Spondylo-epi-(meta)-physeal dysplasias (SE(M)D) Intellectual disability, Microcephaly, Pectus carinatum, Failure to thrive Familial, autosomal recessive - - - - - LOVD 00331406
0000249599 skeletal dysplasia Spondylo-epi-(meta)-physeal dysplasias (SE(M)D) Global developmental delay, Short stature, Scoliosis Familial, autosomal recessive - - - - - LOVD 00331407
0000249600 skeletal dysplasia Spondylo-epi-(meta)-physeal dysplasias (SE(M)D) Seizures, Short stature, Brachydactyly, Camptodactyly, Hyperlordosis, Platyspondyly, Hyp Yes Familial, autosomal recessive - - - - - LOVD 00331408
0000249601 skeletal dysplasia Spondylo-epi-(meta)-physeal dysplasias (SE(M)D) Short stature, Microcephaly, Generalized hypotonia, Brisk reflexes, Intellectual disability, Yes Familial, autosomal recessive - - - - - LOVD 00331409
0000249602 skeletal dysplasia Spondylo-epi-(meta)-physeal dysplasias (SE(M)D) Failure to thrive, Intellectual disability Familial, autosomal recessive - - - - - LOVD 00331410
0000249603 skeletal dysplasia Spondylo-epi-(meta)-physeal dysplasias (SE(M)D) Intellectual disability, Short stature, Short neck, Pectus excavatum, Intercostal retractions Yes Familial, autosomal recessive - - - - - LOVD 00331411
0000249604 skeletal dysplasia Spondylo-epi-(meta)-physeal dysplasias (SE(M)D) Skeletal dysplasia Familial, autosomal recessive - - - - - LOVD 00331412
0000249605 skeletal dysplasia Spondylo-epi-(meta)-physeal dysplasias (SE(M)D) Intellectual disability, Abnormality of the vertebral column, Microcephaly Familial, autosomal recessive - - - - - LOVD 00331413
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