Gene Summary

Name:
AKT interacting protein
Synonyms:
Ft1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating aspartate transaminase level Aktiptm1b(EUCOMM)Hmgu HOM Early adult 4.48×10-05
decreased bone mineral density Aktiptm1b(EUCOMM)Hmgu HOM Early adult 8.07×10-14
hyperactivity Aktiptm1b(EUCOMM)Hmgu HOM Early adult 2.06×10-10
decreased bone mineral content Aktiptm1b(EUCOMM)Hmgu HOM Early adult 1.15×10-08

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Viewing: all phenotypes

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.

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

12 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Aktip mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Acrocapitofemoral Dysplasia
Scoliosis, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finger, Cone-shaped... OMIM:607778
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lumbar platyspondyly, Lytic defects of humeral diaphysis, ... OMIM:601376
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Coronal cleft vertebrae, Limb u... OMIM:118651
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Eiken Syndrome
Short toe, Abnormal bone ossification, Short phalanx of finger, Metaphyseal irregularity, Abnorma... ORPHA:79106
Multiple Epiphyseal Dysplasia With Robin Phenotype
Scoliosis, Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irr... OMIM:601560
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Still... OMIM:200700
Brachyolmia Type 1, Hobaek Type
Scoliosis, Short iliac bones, Kyphosis, Flattened proximal radial epiphyses, Back pain, Osteopeni... OMIM:271530
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Fibular Hemimelia
Hip subluxation, Craniosynostosis, Joint laxity, Structural foot deformity, Bowing of the legs, J... ORPHA:93323
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Immunodeficiency 8
Hyperactivity OMIM:615401
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Patent ductus arteriosus, Hypoplas... ORPHA:1972
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus, Failure to thrive OMIM:600121
Parastremmatic Dwarfism
Scoliosis, Genu valgum, Kyphosis, Flexion contracture, Short neck OMIM:168400
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Flat acetabular roof, Small epiphyses, Short femoral neck, Micrognathia, Short neck, O... ORPHA:94068
Leri-Weill Dyschondrosteosis
Scoliosis, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal morphol... OMIM:127300
Hip Dysplasia, Beukes Type
Scoliosis, Hip dysplasia, Abnormal bone ossification, Abnormal ossification involving the femoral... ORPHA:2114
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... ORPHA:750
Femoral-Facial Syndrome
Scoliosis, Hip dysplasia, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, Aplasia/... ORPHA:1988
Insulin-Like Growth Factor I Deficiency
Osteopenia, Hyperactivity OMIM:608747
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Short femur, Short neck, Ventricular septal defect, Flexion contracture, Limb unde... OMIM:616897
Metatropic Dysplasia
Scoliosis, Arthrogryposis multiplex congenita, Dumbbell-shaped metaphyses, Absent primary metaphy... OMIM:156530
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Joi... ORPHA:40
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Hypoplasia of the ulna, Mesomelia, L... OMIM:249700
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Hyperlordosis, Genu valgum, Metaphyseal irregularity, Pes planus, Ovoid vertebral bodi... ORPHA:93315
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Atelosteogenesis, Type I
Short metatarsal, Thoracic platyspondyly, Multinucleated giant chondrocytes in epiphyseal cartila... OMIM:108720
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Pes planus, Small epiphyses, Short femoral neck, Advanced ossification of carpal bones... OMIM:618363
Thanatophoric Dysplasia Type 1
Platyspondyly, Short femur, Atrial septal defect, Wide anterior fontanel, Split hand, Kyphosis, S... ORPHA:1860
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Joint stiffn... ORPHA:240
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Short femur, Rhizomelia, Patent ductus arteriosus, Short humerus, Sanda... OMIM:607143
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Scoliosis, Short femur, Ventricular septal defect, Foot oligodactyly, Omphalocele, Amelia OMIM:601357
Slc35A2-Cdg
Scoliosis, Camptodactyly of finger, Abnormality of long bone morphology, Hip subluxation, Joint h... ORPHA:356961
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flat distal femoral epiphysis, Platyspondyly, Irregularity of vertebral bodies, Genu valgum, Prox... OMIM:609324
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Stuve-Wiedemann Syndrome
Scoliosis, Abnormal dental enamel morphology, Short phalanx of finger, Pathologic fracture, Short... OMIM:601559
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Flat acetabular roof, Monkey wrench femoral neck, Genu varum, Short femoral neck, ... OMIM:617719
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Short phalanx of finger, Generalized joint laxity, Hip osteoarthritis, Ovoid vertebr... OMIM:132400
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Obesity, Hip dysplasia, Ulnar metap... ORPHA:174
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Limited wrist movement, Localized osteoporosis, Thoracic kyphosis, Flattened femoral h... ORPHA:93284
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Generalized bone demineralization, Metaphyseal irregularity, Spar... OMIM:600785
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip dysplasia, Platyspondyly, Abnormality of the knee, Hip subluxation, Protrusio acetabuli, Abno... ORPHA:99642
Atelosteogenesis Type Ii
Short phalanx of finger, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatarsus adductus, Short ... ORPHA:56304
Ivic Syndrome
Scoliosis, Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb undergrowth,... OMIM:147750
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Abnormality of tibia morphology, Abnormal form of the vertebral b... ORPHA:3344
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Overlapping toe, Kyphosis, Camptodactyly, Short thumb, Clinodactyly of the 5th finger OMIM:618453
Czech Dysplasia
Scoliosis, Platyspondyly, Short toe, Short metatarsal, Thoracic kyphosis, Flexion contracture, Na... OMIM:609162
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... OMIM:177170
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Decreased hip abduction, Sparse hair, Flared iliac win... OMIM:183849
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Pes planus, Talocalcaneal synostosis, Sandal gap, Wide capital fe... OMIM:147891
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Platyspondyly, Genu valgum, Decreased hip abduction, Thoracic kyphosis, Irregular vert... OMIM:609223
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Kyphosis, Abnormal co... ORPHA:2777
Pelviscapular Dysplasia
Humeroradial synostosis, Short femur, Low posterior hairline, Congenital hip dislocation, Hypopla... ORPHA:93333
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Mesomelic/rhizomelic limb shortening, Abnormal form of the vertebral bodies... ORPHA:1354
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Prominent calcaneus, Fibular aplasia, Oligodactyly, Short neck, Tarsal ... ORPHA:2756
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Kyphosis, Decreased body weight, Small for gestational age,... OMIM:618392
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal enchondral ossificat... ORPHA:2635
Atelosteogenesis Type I
Scoliosis, Platyspondyly, Short femur, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis, Pes cavus OMIM:617087
Progressive Pseudorheumatoid Arthropathy Of Childhood
Scoliosis, Irregularity of vertebral bodies, Abnormal ilium morphology, Abnormal hip joint morpho... ORPHA:1159
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Zimmermann-Laband Syndrome 3
Low anterior hairline, Thick hair, Absent distal phalanx of the 2nd toe, Kyphosis, Flexion contra... OMIM:618658
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Desbuquois Dysplasia 1
Scoliosis, Short metatarsal, Joint laxity, Pes planus, Phalangeal dislocation, Broad first metata... OMIM:251450
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hip joint morphology, Flattened femoral head, Thoracic platyspondy... ORPHA:166011
Brachyolmia Type 1, Toledo Type
Broad tibial metaphyses, Back pain, Irregular vertebral endplates, Intervertebral space narrowing... OMIM:271630
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Joint laxity, Increased susceptibility to fractures, Abnormality of the metaphysis, El... ORPHA:93359
Bethlem Myopathy 2
Kyphosis, Flexion contracture, Joint laxity, Hip dislocation OMIM:616471
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Proximal lower limb amyotrophy, Pes... OMIM:600175
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Beaking of vertebral bodies, Hypoplastic ilia, Joint stiffness, Kyphoscoliosis, St... OMIM:616583
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Hirsutism, Small for gestational age, Congenital bilateral hip dislocation, Talipes equ... ORPHA:85288
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Kyphosis, Short finger, Sclerosis of skull base, Thoracolumbar scoliosis, Knee fle... OMIM:313420
Bruck Syndrome 1
Scoliosis, Platyspondyly, Osteoporosis, Protrusio acetabuli, Joint laxity, Kyphosis, Coxa vara, I... OMIM:259450
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Hemivertebrae, Metatarsus adductus,... ORPHA:93322
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Spinal rigidity, Dilated cardiomyopathy,... OMIM:300718
Diastrophic Dysplasia
Costal cartilage calcification, Hypoplastic cervical vertebrae, Hitchhiker thumb, Short finger, I... OMIM:222600
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Osteoporosis, Kyphosis, Failure to thrive, Hypertrophic cardiomyopathy OMIM:618234
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Kyphosis, Pes cavus OMIM:611225
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Scoliosis, Hip subluxation, Joint laxity, Metaphyseal irregularity, Small for gestational age, De... ORPHA:93360
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Kyphosis, Fibular bowing, Horizontal sacrum, Calvarial hyperostos... OMIM:112350
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Hypoplasia of the capital femoral epiphysis, Metaphyseal irregularity, Delayed ossif... OMIM:607078
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral den... OMIM:241520
Progressive Pseudorheumatoid Dysplasia
Metaphyseal widening, Platyspondyly, Camptodactyly of finger, Osteoporosis, Enlarged interphalang... OMIM:208230
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis, Hirsutism, Small hand, Short foot, Talipes equinovarus, Hip dislocation OMIM:300434
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Wide anterior fontanel, Overlapping toe, Fibular hypoplasia, C... OMIM:201170
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micrognathia, Short neck, Femoral bowing, Elbow flexion contracture, Short femur, Enlarged metaph... OMIM:210710
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Sparse bone trabeculae, R... OMIM:600081
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Platyspondyly, Flexion contracture, Failure to thrive, Flattened epiphysis, Abnormality of the me... ORPHA:157965
Dysspondyloenchondromatosis
Scoliosis, Platyspondyly, Genu valgum, Lower limb asymmetry, Anisospondyly, Metaphyseal enchondro... ORPHA:85198
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Hall-Riggs Mental Retardation Syndrome
Scoliosis, Platyspondyly, Osteoporosis, Enamel hypoplasia, Kyphosis, Irregular vertebral endplate... OMIM:234250
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Craniosynostosis, Micrognathia, Forearm undergrowth, Absen... OMIM:251230
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Scoliosis, Overlapping fingers, Arthrogryposis multiplex congenita, Congenital hip dislocation, K... OMIM:618291
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Abnormality of the knee, Preaxial hand polydactyly, Wide anterior fontanel, ... ORPHA:3098
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Joint hypermobility, Kyphosis, Flexion contracture, Spinal rigidity OMIM:618323
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Generalized joint laxity, Lumbar hyperlordosis, Irregular patellae, Patellar hypoplasia, Genu var... OMIM:609325
Anauxetic Dysplasia 2
Hyperlordosis, Hypoplasia of the femoral head, Sparse hair, Ovoid vertebral bodies, Flexion contr... OMIM:617396
Acheiropody
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Perom... OMIM:200500
Borjeson-Forssman-Lehmann Syndrome
Scoliosis, Shortening of all distal phalanges of the fingers, Cervical spinal canal stenosis, Wid... OMIM:301900
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, Arthrogryposis multiplex congenita, Short neck, Kyphosis, Camptodactyly, Flex... OMIM:618393
Microphthalmia With Limb Anomalies
Broad thumb, Tarsal synostosis, Abnormality of the metacarpal bones, Sandal gap, Micrognathia, Po... ORPHA:1106
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Brachydactyly, Metaphys... ORPHA:440354
Urban-Rogers-Meyer Syndrome
Osteoporosis, Camptodactyly of finger, Short neck, Toe syndactyly, Abnormality of epiphysis morph... ORPHA:3409
Ruvalcaba Syndrome
Scoliosis, Limited elbow extension, Short metatarsal, Short phalanx of finger, Kyphosis, Short me... OMIM:180870
Atelosteogenesis Type Iii
Vertebral hypoplasia, Thoracolumbar kyphosis, Fibular aplasia, Absent humerus, Talipes equinovaru... ORPHA:56305
Congenital Arthrogryposis With Anterior Horn Cell Disease
Scoliosis, Hip dysplasia, Rocker bottom foot, Areflexia of lower limbs, Arthrogryposis multiplex ... OMIM:611890
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Lumbar scoliosis, Hirsutism, Irregular vertebral endplates, Bowing of the legs, Lo... OMIM:612847
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Joint laxity, Atrophic scars, Kyphosis, Increased susceptibility to fractures, Congeni... OMIM:130060
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Talipes equinovalgus, Mesomelia, Short tibia, Hip dislocation, Fibular ap... OMIM:605274
Kyphomelic Dysplasia
Radial bowing, Platyspondyly, Short femur, Micrognathia, Dumbbell-shaped humerus, Short humerus, ... OMIM:211350
Smith-Mccort Dysplasia 1
Scoliosis, Platyspondyly, Atlantoaxial instability, Multicentric femoral head ossification, Genu ... OMIM:607326
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Platyspondyly, Metaphyseal chondrodysplasia, Short middle phalanx of f... OMIM:156500
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Platyspondyly, Genu valgum, Metaphyseal irregularity, Narrow iliac wing, Irregular vertebral endp... OMIM:601668
Spondyloperipheral Dysplasia
Short metatarsal, Broad thumb, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Thoracic kyphosis, Carpal bone hypoplasia, Pes planus, Camptodactyly... OMIM:223800
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Multiple Epiphyseal Dysplasia Type 4
Scoliosis, Short metatarsal, Acetabular dysplasia, Joint stiffness, Double-layered patella, Short... ORPHA:93307
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Omodysplasia 1
Limited elbow extension, Hypoplastic distal humeri, Atrial septal defect, Short neck, Ventricular... OMIM:258315
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Slender finger, Vertebral segm... OMIM:609813
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Joint hypermobility, Pes planus, Elbow flexion contracture, Micrognathia, Hyperlordosi... ORPHA:536516
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Sclerotic verteb... ORPHA:289176
Diastrophic Dwarfism
Scoliosis, Hip dysplasia, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal form ... ORPHA:628
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Enlargement of the ankles, Enamel hypoplasia, Subperiosteal bone resorption, M... OMIM:277440
Duchenne And Becker Muscular Dystrophy
Elevated circulating creatine kinase concentration, Reduced bone mineral density, Gait disturbanc... ORPHA:262
Metaphyseal Acroscyphodysplasia
Scoliosis, Irregular phalanges, Craniosynostosis, Short phalanx of finger, Cone-shaped epiphyses ... OMIM:250215
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short neck, Wide anterior fontanel, Low posterior hairline, Complete atrioventricular canal defec... OMIM:617925
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Joint laxity, Metaphyseal irregularity, Central vertebral hy... OMIM:602557
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Kyphosis, Decreased calvarial ossification, Recurrent fractures, Multip... OMIM:259440
Mucopolysaccharidosis, Type Iva
Scoliosis, Platyspondyly, Hyperlordosis, Genu valgum, Osteoporosis, Constricted iliac wing, Joint... OMIM:253000
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Enlargement of the ankles, Enamel hypoplasia, Subperiosteal bone resorption, M... OMIM:264700
Shashi-Pena Syndrome
Scoliosis, Highly arched eyebrow, Osteoporosis, Atrial septal defect, Kyphosis OMIM:617190
Microcephalic Primordial Dwarfism, Montreal Type
Scoliosis, Shagreen patch, Low posterior hairline, Premature graying of hair, Abnormal hair quant... ORPHA:2617
Sotos Syndrome 3
Hyperactivity OMIM:617169
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Platyspondyly, Hip osteoarthritis, Kyphosis, Irregular epiphyses, Hypoplastic iliac wi... OMIM:313400
Mucopolysaccharidosis Type 4
Scoliosis, Platyspondyly, Hyperlordosis, Genu valgum, Abnormal dental enamel morphology, Abnormal... ORPHA:582
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Pes planus, Flattened femoral head, Patent ductus arter... ORPHA:457395
Autism Spectrum Disorder Due To Auts2 Deficiency
Scoliosis, Highly arched eyebrow, Arthrogryposis multiplex congenita, Atrial septal defect, Abnor... ORPHA:352490
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Sparse bone trabeculae, R... OMIM:241530
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral bo... OMIM:608940
Holt-Oram Syndrome
Scoliosis, Anomalous pulmonary venous return, Atrial septal defect, Broad thumb, Radioulnar synos... ORPHA:392
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Ck Syndrome
Slender build, Scoliosis, Hyperlordosis, Joint hypermobility, Kyphosis, Abnormal cortical bone mo... OMIM:300831
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Omphalocele, Hemivertebrae,... ORPHA:96334
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Platyspondyly, Limited elbow extension, Flared iliac wing, Ulnar bowing, Rhizomeli... OMIM:602111
Occipital Horn Syndrome
Scoliosis, Large iliac wing, Pes planus, Coarse hair, Abnormality of fibula morphology, Aplastic ... ORPHA:198
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Flexion contracture, Small for gestation... OMIM:618484
Mucopolysaccharidosis, Type Ivb
Scoliosis, Platyspondyly, Hyperlordosis, Genu valgum, Osteoporosis, Constricted iliac wing, Joint... OMIM:253010
Widow'S Peak Syndrome
Hip osteoarthritis, Kyphosis, Widow's peak, Narrow iliac wing, Inguinal hernia, Recurrent patella... OMIM:314570
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Kyphosis, Lumbar hyperlordosis, Talipes equinovarus, Hip dislocation, Obesity OMIM:616756
Congenital Muscular Dystrophy, Ullrich Type
Scoliosis, Micrognathia, Kyphosis, Flexion contracture, Hyperextensibility at wrists, Adducted th... ORPHA:75840
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Frank-Ter Haar Syndrome
Scoliosis, Camptodactyly of finger, Osteolysis, Beaking of vertebral bodies, Genu recurvatum, Kyp... ORPHA:137834
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Dystonia, Ataxia, Hyperactivity OMIM:615924
Uruguay Faciocardiomusculoskeletal Syndrome
Scoliosis, Ventricular hypertrophy, Congenital hip dislocation, Dislocation of toes, Camptodactyl... OMIM:300280
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Platyspondyly, Hypopigmentation of hair, Albinism, Kyphosis ORPHA:2786
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Platyspondyly, Dislocated radial head, Camptodactyly of finger, Cigarette-paper scars, Short phal... OMIM:612350
Osteogenesis Imperfecta, Type Iii
Scoliosis, Protrusio acetabuli, Wide anterior fontanel, Biconcave vertebral bodies, Kyphosis, Dec... OMIM:259420
Schaaf-Yang Syndrome
Scoliosis, Rocker bottom foot, Arthrogryposis multiplex congenita, Kyphosis, Camptodactyly, Flexi... OMIM:615547
Arthrogryposis, Distal, Type 4
Scoliosis, Low anterior hairline, Low posterior hairline, Kyphosis, Deviation of the 2nd toe, Lum... OMIM:609128
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Sparse bone trabeculae, R... OMIM:300554
Bruck Syndrome
Scoliosis, Platyspondyly, Osteoporosis, Arthrogryposis multiplex congenita, Kyphosis, Bowing of t... ORPHA:2771
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Hyperprolinemia OMIM:239500
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis, Large hands, Tapered finger, Obesity ORPHA:276630
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Spli... OMIM:609945
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Hypergonadotropic hypogonadism, Kyphosis, Keloids, Secondary amenorrhea, Short toe... ORPHA:3085
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Scoliosis, Camptodactyly of finger, Osteoporosis, Kyphosis, Long eyelashes, Abnormality of the ce... ORPHA:48431
Mucolipidosis Iii Gamma
Scoliosis, Hyperlordosis, Genu valgum, Flared iliac wing, Kyphosis, Aortic valve stenosis, Joint ... OMIM:252605
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis, 2-3 toe syndactyly, Synophrys, Brachydactyly, Clinodactyly, Thick eyebrow, Micrognathia... OMIM:617061
Osteogenesis Imperfecta, Type Xiii
Scoliosis, Platyspondyly, Dislocated radial head, Joint hypermobility, Osteoporosis, Long eyelash... OMIM:614856
Otospondylomegaepiphyseal Dysplasia
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Micrognathia, Osteoarth... ORPHA:1427
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Scoliosis, Kyphosis, Small hand, Slender finger, Short foot, Clinodactyly of the 5th finger, Abno... OMIM:618443
X-Linked Dominant Chondrodysplasia Punctata
Hip dysplasia, Abnormal vertebral morphology, Abnormality of epiphysis morphology, Rhizomelia, Ky... ORPHA:35173
Achondroplasia
Bowing of the legs, Flat acetabular roof, Narrow greater sciatic notch, Obesity, Limited elbow ex... ORPHA:15
Osteogenesis Imperfecta, Type Viii
Scoliosis, Platyspondyly, Radial bowing, Wide anterior fontanel, Joint laxity, Externally rotated... OMIM:610915
Mucopolysaccharidosis Type 6
Genu valgum, Abnormal heart valve morphology, Ovoid vertebral bodies, Kyphosis, Joint stiffness, ... ORPHA:583
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Scoliosis, Generalized bone demineralization, Ventricular hypertrophy, Short phalanx of finger, P... OMIM:143095
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Glycine Encephalopathy
Lethargy, Hyperglycinemia, Hyperactivity OMIM:605899
Thanatophoric Dysplasia
Abnormal ilium morphology, Platyspondyly, Hip dysplasia, Atrial septal defect, Joint hyperflexibi... ORPHA:2655
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Ulnar bowing, Short forearm OMIM:127350
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Platyspondyly, Dislocated radial head, Joint laxity, Metaphyseal irregularity, Carpal ... OMIM:618395
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Abnormal cardiac sept... ORPHA:3320
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Contractural Arachnodactyly, Congenital
Scoliosis, Camptodactyly, Patent ductus arteriosus, Metatarsus adductus, Congenital kyphoscoliosi... OMIM:121050
Orofaciodigital Syndrome Ix
Short tibia, Camptodactyly, Hand polydactyly, Toe syndactyly OMIM:258865
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Postaxial hand polydactyly, Short neck, Toe syndactyly, Aplasia/Hy... ORPHA:3082
Carpenter Syndrome
Genu valgum, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Craniosynostosis, Finger sy... ORPHA:65759
Masa Syndrome
Hyperlordosis, Kyphosis, Pes cavus, Talipes equinovarus, Adducted thumb OMIM:303350
Shox-Related Short Stature
Scoliosis, Genu valgum, Micrognathia, Ulnar radial head dislocation, Tibial bowing, Forearm under... ORPHA:314795
Disorder Of Sex Development-Intellectual Disability Syndrome
Genu valgum, Low posterior hairline, Kyphosis, Synophrys, Reduced bone mineral density, Spina bif... ORPHA:2983
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Enamel hypoplasia, Subperiosteal bone resorption, Rickets, Tibial bowi... ORPHA:289157
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic rickets, Tibial bowing, ... OMIM:307800
Gm1-Gangliosidosis, Type Iii
Scoliosis, Platyspondyly, Flared iliac wing, Kyphosis, Anterior beaking of lumbar vertebrae, Hypo... OMIM:230650
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Myofibrillar Myopathy 10
Flexion contracture of finger, Kyphosis, Sandal gap, Left ventricular hypertrophy, Knee flexion c... OMIM:619040
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Congenital foot contractures, Kyphosis, Clinodactyly of the 5th finger, Limitation of ... ORPHA:3454
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Platyspondyly, Carpal bone hypoplasia, Severe carpal ossification dela... OMIM:184252
Mental Retardation, Autosomal Dominant 26
Scoliosis, Highly arched eyebrow, Arthrogryposis multiplex congenita, Kyphosis, Thick eyebrow, Sm... OMIM:615834
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Marinesco-Sjogren Syndrome
Scoliosis, Short metatarsal, Hypergonadotropic hypogonadism, Pes planus, Kyphosis, Flexion contra... OMIM:248800
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Broad distal phalanx of finger, Joint hypermobility, Short femur, Short neck, Talipes, Pes planus... OMIM:300990
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Hip dysplasia, Kyphosis, Hypoplastic iliac wing, Short distal phalanx of finger, Brach... ORPHA:1858
Fibrochondrogenesis 1
Camptodactyly, Omphalocele, Hypoplastic ischia, Narrow greater sciatic notch, Patent foramen oval... OMIM:228520
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Broad long bone diaphyses, ... OMIM:300106
Atelosteogenesis, Type Iii
Scoliosis, Cervical segmentation defect, Widened distal phalanges, Radial bowing, Micrognathia, H... OMIM:108721
Clark-Baraitser syndrome
Scoliosis, Genu valgum, Joint laxity, Genu recurvatum, Kyphosis, Tapered finger, Short palm, Obesity OMIM:300602
15Q24 Microdeletion Syndrome
Scoliosis, Abnormal thumb morphology, Joint laxity, Abnormal heart morphology, Kyphosis, High ant... ORPHA:94065
Campomelic Dysplasia
Talipes equinovarus, Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Wide ant... OMIM:114290
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Platyspondyly, Flexion contracture, Absent ossification of capital femoral epiphysis, Tibial bowi... OMIM:245160
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Flexion contracture, Clinodactyly, Short... ORPHA:178148
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Talipes equinovarus, Absent tibia, Preaxial polydactyly, Cone-shaped epiphysis, Postax... OMIM:613091
Subaortic Stenosis-Short Stature Syndrome
Scoliosis, Subvalvular aortic stenosis, Synostosis of carpal bones, Micrognathia, Membranous subv... ORPHA:3191
Dent Disease 1
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Sparse bone trabeculae, R... OMIM:300009
Alpha-Mannosidosis
Scoliosis, Hip dysplasia, Synostosis of joints, Craniofacial hyperostosis, Hypoplastic inferior i... ORPHA:61
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Broad long bones, Absent ossification of calvaria, Recurrent fractures, Tibial bow... OMIM:166210
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Becker Nevus Syndrome
Scoliosis, Abnormality of tibia morphology, Kyphosis, Lipoatrophy, Spina bifida occulta, Lower li... ORPHA:64755
Brachyolmia Type 3
Scoliosis, Platyspondyly, Proximal femoral metaphyseal irregularity, Kyphosis, Radial deviation o... OMIM:113500
Geroderma Osteodysplasticum
Osteoporosis, Platyspondyly, Biconcave vertebral bodies, Beaking of vertebral bodies, Camptodacty... OMIM:231070
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Postaxial polysyndactyly of foot, Postaxial hand polydactyly, Preaxial hand polyda... OMIM:263520
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Kyphosis, Arachnodactyly, Joint stiffness ORPHA:1548
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Camurati-Engelmann Disease
Scoliosis, Abnormality of tibia morphology, Pes planus, Hyperostosis, Abnormality of the ulna, Hy... ORPHA:1328
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Joint hyperflexibility, Kyphosis ORPHA:1875
3M Syndrome
Scoliosis, Hyperlordosis, Increased vertebral height, Rocker bottom foot, Abnormal dental enamel ... ORPHA:2616
Hurler Syndrome
Short neck, Biconcave vertebral bodies, Flared iliac wing, Endocardial fibroelastosis, Kyphosis, ... OMIM:607014
Pelger-Huet Anomaly
Short 4th metacarpal, Short 3rd metacarpal, Upper limb undergrowth, Ventricular septal defect, Po... OMIM:169400
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Short phalanx of finger, Microretrognathia, Mesomelia,... OMIM:268305
Hyperphosphatasia With Mental Retardation Syndrome 6
Flexion contracture, Osteopenia, Knee flexion contracture, Hyperactivity, Elevated circulating cr... OMIM:616809
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Thick hair, Kyphosis, Synophrys, Truncal obesity, Thick eyebrow, Low posterior hairline ORPHA:2429
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Atkin-Flaitz Syndrome
Scoliosis, Genu valgum, Joint laxity, Genu recurvatum, Kyphosis, Tapered finger, Short palm, Obesity OMIM:300431
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Atlantoaxial instability, Platyspondyly, Delayed pubic bone ossification, Ovoid verteb... OMIM:183900
Dyggve-Melchior-Clausen Syndrome, X-Linked
Scoliosis, Hypoplastic sacrum, Platyspondyly, Distal ulnar hypoplasia, Genu valgum, Hypoplastic p... OMIM:304950
Mental Retardation, Autosomal Dominant 23
Scoliosis, Hyperlordosis, Broad distal phalanx of finger, Low anterior hairline, Kyphosis, Postax... OMIM:615761
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Talipes, Hypoplasia of the ulna, Fibular hypoplasia, Neonatal death, Sm... OMIM:227270
Spondylometaphyseal Dysplasia, Kozlowski Type
Scoliosis, Platyspondyly, Genu valgum, Abnormality of epiphysis morphology, Kyphosis, Coxa vara, ... ORPHA:93314
Fibrosis Of Extraocular Muscles, Congenital, 3C
Highly arched eyebrow, Kyphosis OMIM:609384
Mental Retardation, Autosomal Dominant 57
Scoliosis, Joint hypermobility, Craniosynostosis, Pes planus, Kyphosis, Hypertrichosis OMIM:618050
Thanatophoric Dysplasia Type 2
Platyspondyly, Atrial septal defect, Joint hyperflexibility, Kyphosis, Patent ductus arteriosus, ... ORPHA:93274
Lopes-Maciel-Rodan Syndrome
Scoliosis, Kyphosis, Ankle clonus, Small hand, Short foot OMIM:617435
4Q21 Microdeletion Syndrome
Scoliosis, Toe syndactyly, Kyphosis, Long eyelashes, Synophrys, Small hand, Short foot, Generaliz... ORPHA:238750
Rothmund-Thomson Syndrome Type 1
Abnormal dental enamel morphology, Short phalanx of finger, Alopecia totalis, Small for gestation... ORPHA:221008
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Osteogenesis Imperfecta, Type Xi
Scoliosis, Protrusio acetabuli, Joint laxity, Biconcave vertebral bodies, Dentinogenesis imperfec... OMIM:610968
Pycnodysostosis
Hyperlordosis, Osteolysis, Abnormality of the vertebral column, Abnormal vertebral morphology, Ab... ORPHA:763
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Tal... ORPHA:2378
Rothmund-Thomson Syndrome
Infertility, Abnormal dental enamel morphology, Sparse eyebrow, Sparse hair, Abnormal trabecular ... ORPHA:2909
Acro-Renal-Mandibular Syndrome
Scoliosis, Hypoplasia of the radius, Rudimentary fibula, Finger syndactyly, Micrognathia, Split h... ORPHA:958
Persistent Mullerian Duct Syndrome, Types I And Ii
Inguinal hernia, Male infertility OMIM:261550
Ruvalcaba Syndrome
Scoliosis, Abnormality of vertebral epiphysis morphology, Synostosis of carpal bones, Kyphosis, C... ORPHA:3121
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Short metatarsal, Congenital hip dislocation, Broad thumb, Omphaloc... OMIM:304120
X-Linked Intellectual Disability, Cabezas Type
Scoliosis, Camptodactyly of finger, Abnormal hair pattern, Toe syndactyly, Joint hyperflexibility... ORPHA:85293
Hypomelanosis Of Ito
Scoliosis, Hand polydactyly, Kyphosis, Radial deviation of finger, Clinodactyly, Syndactyly, Alop... OMIM:300337
Chst3-Related Skeletal Dysplasia
Scoliosis, Genu valgum, Highly arched eyebrow, Sparse eyebrow, Abnormal form of the vertebral bod... ORPHA:263463
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Flexion contracture, Failure to thrive, Hypertrophic cardiomyopathy OMIM:618237
Gm1 Gangliosidosis
Scoliosis, Hirsutism, Patent ductus arteriosus, Weight loss, Joint stiffness, Abnormality of the ... ORPHA:354
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Large iliac wing, Hip subluxation, Joint laxity, Flared iliac wing, Pes planus, Ovoid vertebral b... OMIM:271640
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Scoliosis, Joint hyperflexibility, Kyphosis, Umbilical hernia, Shoulder dislocation, Adducted thu... ORPHA:2181
Cdkl5-Deficiency Disorder
Scoliosis, Broad proximal phalanges of the hand, Kyphosis, Synophrys, Hallux valgus ORPHA:505652
Sandhoff Disease
Kyphosis, Failure to thrive ORPHA:796
Fountain Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Kyphosis, Large hand... ORPHA:3219
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity OMIM:238700
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia, Abnormal heart morphology OMIM:188740
Multicentric Osteolysis, Nodulosis, And Arthropathy
Metatarsal osteolysis, Split hand, Pes planus, Hirsutism, Interphalangeal joint contracture of fi... OMIM:259600
Hajdu-Cheney Syndrome
Foot acroosteolysis, Joint laxity, Hirsutism, Patent ductus arteriosus, Pathologic fracture, Shor... OMIM:102500
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Oligospermia ORPHA:1646
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Wiedemann-Rautenstrauch Syndrome
Joint hypermobility, Congenital generalized lipodystrophy, Hirsutism, Long toe, Thin long bone di... ORPHA:3455
Jaberi-Elahi Syndrome
Scoliosis, Joint hypermobility, Sparse eyebrow, Talipes, Kyphosis, Joint stiffness, Failure to th... OMIM:617988
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Proximal lower limb amyotrophy, Kyphosis, Lipodystrophy, Back pain, Ach... ORPHA:98855
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Wiedemann-Rautenstrauch Syndrome
Scoliosis, Short femur, Sparse hair, Sparse eyelashes, Hypoplastic ilia, Long foot, Flexion contr... OMIM:264090
Rothmund-Thomson Syndrome Type 2
Abnormal dental enamel morphology, Short phalanx of finger, Synostosis involving bones of the upp... ORPHA:221016
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Kyphosis, Pes cavus ORPHA:101075
Pelvis-Shoulder Dysplasia
Dislocated radial head, Camptodactyly of finger, Talipes equinovarus, Aplasia/Hypoplasia of the s... ORPHA:2839
Osteogenesis Imperfecta, Type Iv
Scoliosis, Kyphosis, Recurrent fractures, Reduced bone mineral density, Increased susceptibility ... OMIM:166220
Cono-Spondylar Dysplasia
Scoliosis, Kyphosis, Short humerus, Short 4th toe, Failure to thrive, Short lower limbs, Cone-sha... ORPHA:420794
Ullrich Congenital Muscular Dystrophy 1
Slender build, Scoliosis, Distal joint laxity, Joint laxity, Kyphosis, Flexion contracture, Hyper... OMIM:254090
Baralle-Macken Syndrome
Pes planus, Kyphosis, Hirsutism, Tapered finger, Obesity OMIM:619255
Sialidosis Type 2
Osteoporosis, Kyphosis, Pedal edema, Flexion contracture, Umbilical hernia, Inguinal hernia ORPHA:87876
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Transient hyperphenylalaninemia, Ataxia, Dystonia OMIM:612716
Stickler Syndrome, Type I
Scoliosis, Platyspondyly, Beaking of vertebral bodies, Kyphosis, Spondylolisthesis, Abnormality o... OMIM:108300
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Joint laxity, Pes planus, Kyphosis, Short foot, Sandal gap, Small hand, Pes cavus, Abdominal obes... OMIM:300354
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Hyperg... OMIM:609441
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Tapered finger OMIM:618512
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Scoliosis, Osteoporosis, Kyphosis, Flexion contracture, Lipodystrophy, Hypogonadism, Micrognathia OMIM:615381
X-Linked Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Proximal lower limb amyotrophy, Kyphosis, Lipodystrophy, Back pain, Ach... ORPHA:98863
Orofaciodigital Syndrome Type 2
Postaxial hand polydactyly, Y-shaped metacarpals, Adactyly, Complete duplication of hallux phalan... ORPHA:2751
Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Proximal lower limb amyotrophy, Kyphosis, Lipodystrophy, Back pain, Ach... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Proximal lower limb amyotrophy, Kyphosis, Lipodystrophy, Back pain, Ach... ORPHA:98853
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Radioulnar synostosis, Split hand, Short humerus,... OMIM:171480
8Q24.3 Microdeletion Syndrome
Congenital hip dislocation, Joint laxity, Pes planus, Patent ductus arteriosus, Small for gestati... ORPHA:508488
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
3C Syndrome
Scoliosis, Atrial septal defect, Hand polydactyly, Finger syndactyly, Micrognathia, Abnormal tric... ORPHA:7
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity OMIM:300983
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis, Micrognathia, Distichiasis ORPHA:2598
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short femur, Polydactyly, Flexion contracture, Patent ductus arteriosus, Short humerus, Failure t... ORPHA:17
Osteogenesis Imperfecta, Type Xviii
Joint hypermobility, Joint laxity, Biconcave vertebral bodies, Bowing of the long bones, Recurren... OMIM:617952
Poland Syndrome
Scoliosis, Absent hand, Split hand, Hemivertebrae, Unilateral brachydactyly, Dextrocardia, Missin... ORPHA:2911
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Scoliosis, Camptodactyly of finger, Sparse hair, Kyphosis, Joint contracture of the 5th finger, C... ORPHA:1883
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion, Thigh hypertro... OMIM:606612
Mend Syndrome
Overlapping fingers, Overlapping toe, Polydactyly, Microretrognathia, Kyphosis, 2-3 toe syndactyl... OMIM:300960
Hajdu-Cheney Syndrome
Scoliosis, Hypoplastic 5th lumbar vertebrae, Patent ductus arteriosus, Coarse hair, Short distal ... ORPHA:955
Campomelic Dysplasia
Scoliosis, Poorly ossified cervical vertebrae, Micrognathia, Hypoplastic inferior ilia, Kyphosis,... ORPHA:140
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Kyphosis, Arachnodactyly, Long foot OMIM:300676
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Autosomal Recessive Spastic Paraplegia Type 53
Joint hyperflexibility, Kyphosis, Failure to thrive ORPHA:319199
Frank-Ter Haar Syndrome
Short phalanx of finger, Camptodactyly, Metatarsus adductus, Double outlet right ventricle, Corti... OMIM:249420
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Omphalocele, Tibial bowing, Abnormally ossified vertebra... ORPHA:3035
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Otopalatodigital Syndrome Type 2
Scoliosis, Tarsal synostosis, Flared iliac wing, Hypoplastic frontal sinuses, Omphalocele, Abnorm... ORPHA:90652
Weaver Syndrome
Scoliosis, Broad thumb, Camptodactyly, Metatarsus adductus, Prominent fingertip pads, Limited elb... OMIM:277590
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Kyphosis, Pes cavus ORPHA:101078
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Stillbirth, Preaxial foot polydactyly, Mirror image foot polydactyly, Patellar hypo... OMIM:119800
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormal dental enamel morphology, Postaxial hand polydactyly, Low posterior hairline,... ORPHA:2916
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Split hand, Hand monodactyly, Split foot, Patellar aplasia, Aplasia o... OMIM:119100
Mcdonough Syndrome
Scoliosis, Kyphosis, Synophrys, Cachexia, Micrognathia ORPHA:2471
19P13.12 Microdeletion Syndrome
Scoliosis, Craniosynostosis, Arthrogryposis multiplex congenita, Atrial septal defect, Finger syn... ORPHA:254346
Classical-Like Ehlers-Danlos Syndrome Type 2
Joint hypermobility, Pes planus, Phalangeal dislocation, Pericardial effusion, Sandal gap, Should... ORPHA:536532
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Kyphosis, Arachnodactyly, Joint laxity OMIM:248760
Dysostosis, Stanescu Type
Scoliosis, Hyperlordosis, Abnormal dental enamel morphology, Massively thickened long bone cortic... ORPHA:1798
Melnick-Needles Syndrome
Pes planus, Omphalocele, Coarse hair, Short distal phalanx of finger, Short clavicles, Mitral val... OMIM:309350
Cartilage-Hair Hypoplasia
Scoliosis, Abnormality of the metaphysis, Short neck, Cardiomyopathy, Hyperlordosis, Limited elbo... ORPHA:175
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Pericardial effusion, Abnormal cardiac septum morphology, Failure to thrive, Hip disloc... OMIM:608776
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Kyphosis, Pes cavus OMIM:610743
Acrorenal-Mandibular Syndrome
Hypoplasia of the radius, Rudimentary fibula, Hand polydactyly, Toe syndactyly, Absent nipple, Sp... OMIM:200980
Phenylketonuria
Hyperphenylalaninemia, Maternal hyperphenylalaninemia, Attention deficit hyperactivity disorder, ... OMIM:261600
Crisponi Syndrome
Scoliosis, Camptodactyly of finger, Kyphosis, Flexion contracture, Micrognathia, Limitation of jo... ORPHA:1545
Gm1-Gangliosidosis, Type I
Scoliosis, Beaking of vertebral bodies, Abnormal heart valve morphology, Kyphosis, Inguinal herni... OMIM:230500
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Bra... OMIM:228900
Myopathy, Centronuclear, 2
Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Pes cavus, Talipes equinovarus OMIM:255200
Flynn-Aird Syndrome
Scoliosis, Kyphosis, Bone cyst, Joint stiffness, Cachexia, Alopecia ORPHA:2047
Spastic Paraplegia 46, Autosomal Recessive
Scoliosis, Infertility, Kyphosis, Ankle clonus, Pes cavus OMIM:614409
Hemifacial Atrophy, Progressive
Kyphosis, Poliosis, Patchy alopecia, Short mandibular rami OMIM:141300
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal ilium morphology, Craniosynostosis, Short phalanx of finger, Acetabular dysplasia, Limit... ORPHA:508533
Trisomy 20P
Scoliosis, Coarse hair, Low posterior hairline, Micrognathia, Short neck, Low anterior hairline, ... ORPHA:261318
Eiken Syndrome
Delayed ossification of carpal bones, Broad metatarsal, Short middle phalanx of finger, Decreased... OMIM:600002
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Genu valgum, Hypoplastic pelvis, Carpal bone hypoplasia, Flared femoral metaphysis... OMIM:184253
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Camptodactyly of finger, Anomalous pulmonary venous return, Abnormal form of the verte... ORPHA:2311
Cole-Carpenter Syndrome
Scoliosis, Abnormal dental enamel morphology, Abnormal form of the vertebral bodies, Joint hyperf... ORPHA:2050
Typical Nemaline Myopathy
Scoliosis, Hyperlordosis, Genu valgum, Arthrogryposis multiplex congenita, Micrognathia, Kyphosis... ORPHA:171436
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Caffey Disease
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs, Cortical irregula... OMIM:114000
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density, ... OMIM:166740
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Abnormal dental enamel morphology, Sparse hair, Synostosis of carpal bones, Finger syn... ORPHA:1005
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion, Thigh hypertro... OMIM:607155
Prader-Willi Syndrome
Scoliosis, Failure to thrive in infancy, Frontal upsweep of hair, Obesity, Hip dysplasia, Genu va... OMIM:176270
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Lateral Meningocele Syndrome
Scoliosis, Joint hypermobility, Biconcave vertebral bodies, Micrognathia, Kyphosis, Patent ductus... OMIM:130720
Emanuel Syndrome
Scoliosis, Atrial septal defect, Truncus arteriosus, Congenital hip dislocation, Ventricular sept... OMIM:609029
Cousin Syndrome
Camptodactyly, Hypoplastic ischia, Wrist flexion contracture, Micrognathia, Anterior rounding of ... OMIM:260660
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat... ORPHA:988
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Macular scar, Ankylosis, Kyphosis, Bowing of the long bones, Recurrent fractures, I... OMIM:239000
Ulnar/Fibular Ray Defect And Brachydactyly
Atrial septal defect, Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Lower limb asym... OMIM:608571
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Kyphosis, Hypertrichosis, Synophrys ORPHA:85317
Cleidocranial Dysplasia
Scoliosis, Enamel hypoplasia, Hypoplastic frontal sinuses, Increased bone mineral density, Increa... OMIM:119600
Familial Osteodysplasia, Anderson Type
Scoliosis, Abnormal form of the vertebral bodies, Kyphosis, Recurrent fractures, Abnormal cortica... ORPHA:2769
Mitochondrial Dna Depletion Syndrome 11
Hypergonadotropic hypogonadism, Kyphosis, Spinal rigidity, Spinal deformities, Dilated cardiomyop... OMIM:615084
Mental Retardation, Autosomal Recessive 39
Hyperactivity OMIM:615541
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Narrow iliac wing, Mesomelia, Glenoid fossa hy... ORPHA:85170
Magel2-Related Prader-Willi-Like Syndrome
Scoliosis, Hip dysplasia, Osteoporosis, Atrial septal defect, Infertility, Hypopigmentation of ha... ORPHA:398069
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Scoliosis, Hyperlordosis, Joint hypermobility, Pes planus, Kyphosis, Atrophic scars, Talipes equi... OMIM:617821
Distal Tetrasomy 15Q
Scoliosis, Craniosynostosis, Atrial septal defect, Abnormal heart morphology, Micrognathia, Kypho... ORPHA:314588
Schwartz-Jampel Syndrome
Scoliosis, Arthrogryposis multiplex congenita, Pes planus, Long eyelashes in irregular rows, Incr... ORPHA:800
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity OMIM:609425
Trisomy 13
Scoliosis, Postaxial hand polydactyly, Atrial septal defect, Ventricular septal defect, Kyphosis,... ORPHA:3378
Scapuloperoneal Spinal Muscular Atrophy
Scoliosis, Hip dysplasia, Hyperlordosis, Peroneal muscle atrophy, Kyphosis, Peroneal muscle weakn... OMIM:181405
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Wieacker-Wolff Syndrome
Scoliosis, Hyperlordosis, Congenital foot contractures, Arthrogryposis multiplex congenita, Micro... OMIM:314580
Sjögren-Larsson Syndrome
Scoliosis, Kyphosis, Abnormal dental enamel morphology, Joint stiffness ORPHA:816
Coffin-Lowry Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Pes planus, Kyphosis... ORPHA:192
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Kyphosis, Postaxial polydactyly, Knee flexion co... OMIM:603387
Wieacker-Wolff Syndrome, Female-Restricted
Scoliosis, Rocker bottom foot, Microretrognathia, Kyphosis, Flexion contracture, Achilles tendon ... OMIM:301041
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Cole-Carpenter Syndrome 2
Platyspondyly, Lambdoidal craniosynostosis, Microretrognathia, Kyphosis, Narrow iliac wing, Denti... OMIM:616294
Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Marden-Walker Syndrome
Scoliosis, Wide anterior fontanel, Radioulnar synostosis, Micrognathia, Kyphosis, Camptodactyly, ... OMIM:248700
Zimmermann-Laband Syndrome 2
Kyphosis, Widow's peak, Long eyelashes, Synophrys, Thick eyebrow, Short neck OMIM:616455
Cohen Syndrome
Scoliosis, Failure to thrive in infancy, Sandal gap, Slender toe, Mitral valve prolapse, Microgna... ORPHA:193
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Scoliosis, Kyphosis, Structural foot deformity, Hip dislocation, Obesity ORPHA:464282
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Abnormal hair mor... OMIM:206920
2Q31.1 Microdeletion Syndrome
Scoliosis, Abnormality of tibia morphology, Broad hallux phalanx, Sandal gap, Abnormality of fibu... ORPHA:251014
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Split hand, Hemivertebrae, Phocomelia, Short neck, Femoral bowing, Elbow fl... OMIM:276820
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Idiopathic Juvenile Osteoporosis
Osteoporosis, Kyphosis, Recurrent fractures, Vertebral compression fracture ORPHA:85193
Marfanoid Habitus With Situs Inversus
Scoliosis, Situs inversus totalis, Genu recurvatum, Kyphosis, Pulmonic stenosis, Mitral valve pro... OMIM:609008
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Microretrognathia, Abnormal form of the vertebral bodie... ORPHA:1788
Osteopathia Striata With Cranial Sclerosis
Scoliosis, Camptodactyly, Patent ductus arteriosus, Omphalocele, Spina bifida occulta, Micrognath... OMIM:300373
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Micrognathia, Kyphosis, Abnormal hip bone morphology, Short neck, Fused cervical v... ORPHA:2522
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Hypoplasia of the ulna, Fibular hypo... ORPHA:2634
Femoral-Facial Syndrome
Scoliosis, Short fifth metatarsal, Dysplastic sacrum, Hemivertebrae, Limited shoulder movement, M... OMIM:134780
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteoporosis, Infertility, Abnormal eyebrow morphology, Breast hypoplasia, Hypergonadotropic hypo... ORPHA:2232
Sponastrime Dysplasia
Scoliosis, Hip subluxation, Joint laxity, Metaphyseal irregularity, Pes planus, Flattened humeral... ORPHA:93357
Osteogenesis Imperfecta
Scoliosis, Joint hypermobility, Abnormality of long bone morphology, Abnormality of tibia morphol... ORPHA:666
Lennox-Gastaut Syndrome
Falls, Hyperactivity ORPHA:2382
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Calf muscle hypertrophy, Kyphosis, Elbow flexion contracture OMIM:618138
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Joint laxity, Broad-based gait, Hyperactivity ORPHA:457260
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Arthrogryposis multiplex congenita, Anterior clefting of vertebral bodies, Congenital ... OMIM:265000
Fibular Dimelia-Diplopodia Syndrome
Sacrococcygeal teratoma, Absent tibia ORPHA:1757
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Kyphosis, Pes cavus ORPHA:99014
Mucolipidosis Type Ii
Limited wrist movement, Abnormality of long bone morphology, Craniosynostosis, Weight loss, Limit... ORPHA:576
Lateral Meningocele Syndrome
Scoliosis, Hyperlordosis, Low posterior hairline, Abnormal form of the vertebral bodies, Microgna... ORPHA:2789
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Metaphyseal widening, Platyspondyly, Kyphosis, Osteopetrosis OMIM:618476
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Scoliosis, Aplasia of the 1st metacarpal, Pes planus, Kyphosis, 2-3 toe syndactyly, Complete atri... ORPHA:476126
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Seckel Syndrome 1
Scoliosis, Dislocated radial head, Enamel hypoplasia, Hypoplasia of proximal fibula, Talipes, Pes... OMIM:210600
Oncogenic Osteomalacia
Abnormality of the tarsal bones, Abnormal vertebral morphology, Abnormal pelvis bone morphology, ... ORPHA:352540
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Short distal phalanx of finger, Ulnar bowing, Narrow pelvis bone, Limited elbo... OMIM:210720
Genitopalatocardiac Syndrome
Scoliosis, Postaxial hand polydactyly, Kyphosis, Congenital diaphragmatic hernia, Abnormal cardia... ORPHA:2075
Histidinemia
Hyperhistidinemia, Hyperactivity ORPHA:2157
Coffin-Siris Syndrome 7
Hyperactivity, Sagittal craniosynostosis OMIM:618027
Harrod Syndrome
Scoliosis, Joint hyperflexibility, Kyphosis, Failure to thrive, Abnormal shoulder morphology, Ara... ORPHA:2115
Atypical Rett Syndrome
Scoliosis, Kyphosis, Small hand, Short foot ORPHA:3095
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Hypergonadotropic hypogonadism, Kyphosis, Spinal rigidity, Spinal deformities, Dilated cardiomyop... ORPHA:352447
Lenz-Majewski Hyperostotic Dwarfism
Scoliosis, Abnormal dental enamel morphology, Abnormality of the metacarpal bones, Increased bone... ORPHA:2658
Kleefstra Syndrome 2
Scoliosis, Kyphosis, Thick eyebrow OMIM:617768
Robinow Syndrome, Autosomal Dominant 3
Scoliosis, Broad thumb, Short phalanx of finger, Hypoplastic right heart, Ventricular septal defe... OMIM:616894
Marfanoid-Progeroid-Lipodystrophy Syndrome
Craniosynostosis, Mitral valve prolapse, Pes planus, Kyphosis, Lipoatrophy, Absence of subcutaneo... OMIM:616914
Fucosidosis
Kyphosis, Lipoatrophy, Anterior beaking of lumbar vertebrae, Cardiomegaly, Failure to thrive ORPHA:349
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Elevated circulating gamma-aminobutyric acid concentration OMIM:271980
Gaucher Disease Type 1
Osteolysis, Kyphosis, Pedal edema, Pericardial effusion, Increased bone mineral density, Patholog... ORPHA:77259
Hydrolethalus Syndrome 1
Postaxial hand polydactyly, Preaxial hand polydactyly, Upper limb undergrowth, Stillbirth, Ventri... OMIM:236680
X-Linked Creatine Transporter Deficiency
Dystonia, Abnormal circulating creatine concentration, Joint hyperflexibility, Ataxia, Hyperactiv... ORPHA:52503
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Phocomelia, Edema of the dorsum of ... OMIM:274000
Megalocornea-Intellectual Disability Syndrome
Scoliosis, Joint hyperflexibility, Kyphosis, Genu varum, Metatarsus valgus, Osteopenia, Micrognat... ORPHA:2479
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Scoliosis, Broad distal phalanx of finger, Lower limb asymmetry, Low anterior hairline, Highly ar... ORPHA:404440
Schneckenbecken Dysplasia
Advanced tarsal ossification, Abnormal form of the vertebral bodies, Hypoplastic scapulae, Hypopl... ORPHA:3144
Thalidomide Embryopathy
Radial club hand, Preaxial hand polydactyly, Upper limb phocomelia, Split hand, Aplasia/hypoplasi...