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Gene: Aktip MGI:3693832

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Gene Summary

Name:
AKT interacting protein
Synonyms:
Ft1

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating aspartate transaminase level Aktiptm1b(EUCOMM)Hmgu HOM Early adult 4.46×10-05
decreased bone mineral content Aktiptm1b(EUCOMM)Hmgu HOM Early adult 1.15×10-08
decreased bone mineral density Aktiptm1b(EUCOMM)Hmgu HOM Early adult 8.07×10-14
hyperactivity Aktiptm1b(EUCOMM)Hmgu HOM Early adult 2.87×10-09

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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 Whole Body Dorso Ventral

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Gross Pathology and Tissue Collection

Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Skull Lateral Orientation

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Eye Morphology

Images Ophthalmoscopy

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X-ray

XRay Images Whole Body Lateral Orientation

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Immunophenotyping

Panel A FCS file(s)

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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
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... OMIM:601376
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Rhizomelic Dysplasia, Ain-Naz Type
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... OMIM:619598
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... OMIM:271530
Acromesomelic Dysplasia 2A
Stillbirth, Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humeru... OMIM:200700
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Flexion c... OMIM:601560
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... ORPHA:93323
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Immunodeficiency 8
Hyperactivity OMIM:615401
Parastremmatic Dwarfism
Kyphosis, Flexion contracture, Short neck, Scoliosis, Genu valgum, Bowing of the long bones OMIM:168400
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplastic left heart, Hypoplasia of the radius, Radial club hand, Short tibi... ORPHA:1972
Rhizomelic Chondrodysplasia Punctata, Type 3
Failure to thrive, Short femur, Short humerus, Rhizomelia, Epiphyseal stippling OMIM:600121
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphosis, Abnormal bone ossification... ORPHA:2114
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Short neck, Platyspondyly, Upper limb undergrowth, Genu valgum, Sm... ORPHA:94068
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity OMIM:238700
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Insulin-Like Growth Factor I Deficiency
Osteopenia, Hyperactivity OMIM:608747
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Flexion contracture, Short femur, Short ribs, Micrognathia, Flared me... OMIM:616897
Femoral-Facial Syndrome
Vertebral segmentation defect, Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, I... ORPHA:1988
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Kyphosis, Joint stiffness, Brachydactyly, Scoliosis, Abnormal form o... ORPHA:40
Metatropic Dysplasia
Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the femoral trochante... OMIM:156530
Langer Mesomelic Dysplasia
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Micrognathia, Broad ulna, Short ti... OMIM:249700
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Genu valgum, Small epiphyses, Short long bone, Advanced ossification of carpal bones, Coxa valga,... OMIM:618363
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Thanatophoric Dysplasia Type 1
Kyphosis, Wide anterior fontanel, Joint stiffness, Atrial septal defect, Short femur, Femoral bow... ORPHA:1860
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Winchester Syndrome
Broad metacarpals, Kyphosis, Hirsutism, Generalized osteoporosis, Carpal osteolysis, Osteolysis i... OMIM:277950
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Butterfly vertebrae, Talipes equinovarus, Short ribs, Hypoplasia of the radius... OMIM:607143
Acromesomelic Dysplasia, Grebe Type
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydacty... ORPHA:2098
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Premature osteoarthritis, Limb joint contr... ORPHA:93314
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Slc35A2-Cdg
Talipes equinovarus, Craniosynostosis, Short tibia, Aplasia/hypoplasia involving bones of the ext... ORPHA:356961
Epiphyseal Dysplasia, Multiple, 1
Irregular vertebral endplates, Epiphyseal dysplasia, Delayed epiphyseal ossification, Joint stiff... OMIM:132400
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Platyspondyly, Broad femoral neck... OMIM:609324
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... ORPHA:174
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Diastrophic Dysplasia
Cervical kyphosis, Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Talipes equinovarus, Sm... OMIM:222600
Atelosteogenesis Type Ii
Broad phalanx, Short neck, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Dumbbel... ORPHA:56304
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Scoliosis, Amelia, Ventricular septal defect, Omphalocele, Foot oligodactyly OMIM:601357
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Short neck, Platyspondyly, Biconcave vertebral bodies, Arthralgia ... ORPHA:93284
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Platyspo... OMIM:617719
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleate... OMIM:108720
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Flattened femoral head, Coxa vara, Hip contracture, Hump-shaped mound of bone in central and post... ORPHA:99642
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Kyphosis, Abnormal morphology of ulna, Abnormal h... ORPHA:3344
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Abnormal heart morp... ORPHA:1505
Ivic Syndrome
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... OMIM:147750
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Overlapping toe, Kyphosis, Clinodactyly of the 5th finger, Camptodactyly, Short thumb OMIM:618453
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Delayed epiphyseal ossification, Proximal humeral metaphyseal irregularity, Coxa vara, Increased ... OMIM:183849
Osteomesopyknosis
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... ORPHA:2777
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Coxa vara, Flat capital femoral epiphysis, Short femur, Micrognathia, Wide capital femoral epiphy... OMIM:147891
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Kyphosis, Atrial septal defect, Mesomelic/rhizomelic limb short... ORPHA:1354
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Sclerosis of skull base, Short femur, Femoral bowing, Fr... OMIM:602080
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Decreased body weight, Delayed ossification of carpal bones, Small for gestational age,... OMIM:618392
Zimmermann-Laband Syndrome 3
Short distal phalanx of finger, Kyphosis, Long hallux, Hypertrichosis, Thick eyebrow, Low anterio... OMIM:618658
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Pes cavus, Scoliosis OMIM:617087
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Short neck,... OMIM:251450
Metatropic Dysplasia
Kyphosis, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of the 5th finger... ORPHA:2635
Pelviscapular Dysplasia
Mesomelic leg shortening, Short femur, Hypoplastic ilia, Congenital hip dislocation, Brachydactyl... ORPHA:93333
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... ORPHA:2756
Atelosteogenesis Type I
Talipes equinovarus, Short femur, Abnormal ossification involving the femoral head and neck, Micr... ORPHA:1190
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Irregular acetabular roof, Genu valgum, Generalized osteoporosis, Vertebral wedgin... ORPHA:1159
Brachyolmia Type 1, Toledo Type
Irregular vertebral endplates, Squared-off platyspondyly, Kyphoscoliosis, Precocious costochondra... OMIM:271630
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Platyspondyly, Ulnar deviation of finger, Abnormal epiphysis morphology, Abnormal metaphysis morp... ORPHA:93359
Multiple Epiphyseal Dysplasia, Beighton Type
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Pedal edema, Intervertebral space... ORPHA:166011
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Hirsutism, Talipes equinovarus, Small for gestational age, Congenital bilateral hip dis... ORPHA:85288
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Hirsutism, Talipes equinovarus, Small hand, Scoliosis, Short foot, Hip dislocation OMIM:300434
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Tibial Hemimelia
Radial club hand, Hemivertebrae, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallu... ORPHA:93322
Stuve-Wiedemann Syndrome 1
Sparse hair, Femoral bowing, Short neck, Ulnar deviation of finger, Contracture of the proximal i... OMIM:601559
Neuronopathy, Distal Hereditary Motor, Type Viii
Hip contracture, Kyphosis, Talipes equinovarus, Scoliosis, Hyperlordosis, Proximal lower limb amy... OMIM:600175
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Fragmented epiphyses, Slender finger, Platyspondyly, Genu valgum, Abnormality of the curvature of... ORPHA:93360
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... OMIM:156500
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Pes cavus, Scoliosis OMIM:611225
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Kyphosis, Sclerosis of skull base, Hyperextensibility of the finger joints, Plat... OMIM:313420
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Kyphosis, Scoliosis, Osteoporosis, Hypertrophic cardiomyopathy OMIM:618234
Bethlem Myopathy 2
Kyphosis, Flexion contracture, Scoliosis, Atrophic scars, Hip dislocation, Distal joint laxity OMIM:616471
Weismann-Netter Syndrome
Kyphosis, Calvarial hyperostosis, Horizontal sacrum, Scoliosis, Fibular bowing, Lateral femoral b... OMIM:112350
Bruck Syndrome 1
Coxa vara, Hip contracture, Kyphosis, Talipes equinovarus, Platyspondyly, Scoliosis, Osteoporosis... OMIM:259450
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric... OMIM:241520
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Fai... OMIM:600081
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Progressive Pseudorheumatoid Dysplasia
Coxa vara, Kyphoscoliosis, Joint stiffness, Enlarged metacarpophalangeal joints, Joint contractur... OMIM:208230
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse eyebrow, Femoral bowing, Short neck, 11 pairs of ribs, Micromelia, Long foot, Platyspondyl... OMIM:210710
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Kyphosis, Wide anterior fontanel, Abnormal hair quantity, Pulmoni... ORPHA:3098
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, Failure to thrive, Metaphyseal dysplasia, Kyphosis, Platyspondyly,... OMIM:234250
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Kyphoscoliosi... ORPHA:93316
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Talipes equinovarus, Flexion contracture, Micrognathia, Congenital hip dislocation, Ove... OMIM:618291
Dysspondyloenchondromatosis
Vertebral segmentation defect, Kyphoscoliosis, Generalized joint laxity, Osteoarthritis, Platyspo... ORPHA:85198
Fetal Akinesia Deformation Sequence 4
Kyphosis, Flexion contracture, Micrognathia, Short neck, Camptodactyly, Arthrogryposis multiplex ... OMIM:618393
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Flexion contracture, Short neck, Scoliosis, Hyperlordosis, Dilated car... OMIM:300718
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Short toe, Widely spaced toes, Shortening of all distal phalanges of the fingers, Cervi... OMIM:301900
Angioosteohypotrophic Syndrome
Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Thin bony cortex, Hypoplasia of ... ORPHA:75508
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Failure to thrive, Flat capital femoral epiphysis, Flexion contracture, Osteopenia, Platyspondyly... ORPHA:157965
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Wide anterior fontanel, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs... OMIM:201170
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Joint hypermobility OMIM:618323
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Urban-Rogers-Meyer Syndrome
Kyphosis, Recurrent fractures, Clinodactyly of the 5th finger, Micrognathia, Camptodactyly of fin... ORPHA:3409
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Supernumerary vertebral ossification centers, Slender fi... OMIM:609813
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Micrognathia, Short tibia, Short neck... OMIM:251230
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Bowing of the legs, Hirsutism, Kyphoscoliosis, Platyspondyly, Brac... OMIM:612847
Ruvalcaba Syndrome
Kyphosis, Inguinal hernia, Small hand, Micromelia, Short phalanx of finger, Scoliosis, Limited el... OMIM:180870
Atelosteogenesis Type Iii
Laryngotracheomalacia, Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Mic... ORPHA:56305
Microphthalmia With Limb Anomalies
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... ORPHA:1106
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Osteopenia, Scoliosis, Congenital bilateral hip dislocation, Joint laxity, Premature os... OMIM:130060
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Kyphosis, Talipes equinovarus, Pes cavus, Hyporeflexia of lower limbs, Scoliosis... OMIM:615290
Holt-Oram Syndrome
Kyphosis, Joint stiffness, Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic l... ORPHA:392
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Limitation of joint mobility, Short femur, Fem... OMIM:211350
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Micrognathia, Metaphyseal widening, Femoral bowing, Brachydactyly, Micromelia, Hypop... ORPHA:440354
Smith-Mccort Dysplasia 1
Metaphyseal irregularity, Multicentric femoral head ossification, Hypoplastic acetabulae, Kyphosi... OMIM:607326
Diastrophic Dysplasia
Kyphosis, Joint stiffness, Hypoplastic cervical vertebrae, Increased bone mineral density, Microg... ORPHA:628
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Congenital Arthrogryposis With Anterior Horn Cell Disease
Kyphosis, Talipes equinovarus, Hand clenching, Areflexia of lower limbs, Micrognathia, Short neck... OMIM:611890
Multiple Epiphyseal Dysplasia Type 4
Short metacarpal, Upper limb undergrowth, Arthralgia of the hip, Abnormal hand morphology, Genu v... ORPHA:93307
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Short neck, Platyspondyly, Rh... OMIM:223800
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... OMIM:264700
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Spondylometaphyseal Dysplasia, Kozlowski Type
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Delayed oss... OMIM:184252
Spondyloperipheral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Shortening of all proximal pha... OMIM:271700
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Tapered finger, Foot joint contracture, Talipes equinovarus, Flexion... ORPHA:536516
Microcephalic Primordial Dwarfism, Montreal Type
Vertebral segmentation defect, Kyphosis, Lipoatrophy, Abnormal hair quantity, Reduced bone minera... ORPHA:2617
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Coxa vara, Tibial bowing, Distal femoral bowing, Spinal canal stenosi... ORPHA:289176
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Reduced bone mineral density, Short neck, Platyspondyly, Scolios... ORPHA:582
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Fai... OMIM:241530
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Osteogenesis Imperfecta, Type Ix
Kyphosis, Recurrent fractures, Dentinogenesis imperfecta, Decreased calvarial ossification, Platy... OMIM:259440
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Kyphosis, Flexion contracture, Neonatal death, Hypertrophic cardiomyopathy OMIM:618237
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Atrial septal defect, Joint contracture of the hand, Inguinal hernia, Small for gestati... ORPHA:352490
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Anterior beaking of lumbar vertebrae, Short ne... OMIM:253000
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Short neck, Scoliosis ORPHA:2744
Shashi-Pena Syndrome
Kyphosis, Atrial septal defect, Scoliosis, Osteoporosis, Highly arched eyebrow OMIM:617190
Omodysplasia 1
Atrial septal defect, Limited knee flexion/extension, Increased fibular diameter, Micrognathia, L... OMIM:258315
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Platyspondyly, Micromelia, ... OMIM:250215
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Lumbar hyperlordosis, Narro... OMIM:602557
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Coxa vara, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound of bone in central and posterior por... OMIM:313400
Vitamin D-Dependent Rickets, Type 2A
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... OMIM:277440
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Joint stiffness, Narrow ... OMIM:608940
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Osteopenia, Cone-sha... ORPHA:457395
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Joint contracture of the hand, Camptodactyly of toe, Pes cavus, Congenital hip dislocat... OMIM:300280
Ck Syndrome
Slender build, Kyphosis, Micrognathia, Scoliosis, Hyperlordosis, Abnormal digit morphology, Joint... OMIM:300831
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Congenital Muscular Dystrophy, Ullrich Type
Kyphosis, Slender finger, Increased laxity of fingers, Adducted thumb, Flexion contracture, Micro... ORPHA:75840
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Wide anterior fontanel, Narrow greater sciatic notch, Short ribs, Postaxial polydactyly, Microgna... OMIM:617925
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Kyphosis, Aortic valve stenosis, Constricted i... OMIM:253010
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Talipes equinovarus, Scoliosis, Obesity, Hip dislocation OMIM:616756
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Clinodactyly of the 5th finger, Genu recurvatum, Joint sti... ORPHA:137834
Arthrogryposis, Distal, Type 4
Kyphosis, Low anterior hairline, Talipes equinovarus, 2-5 finger cutaneous syndactyly, Osteopenia... OMIM:609128
Occipital Horn Syndrome
Hiatus hernia, Osteopenia, Coarse hair, Abnormality of the pubic bone, Humerus varus, Down-slopin... ORPHA:198
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Hypoplasia of the radius, Short neck, Hypoplasia of the ulna, Talipes equinovar... OMIM:609945
Widow'S Peak Syndrome
Kyphosis, Inguinal hernia, Arthralgia/arthritis, High iliac wing, Arthralgia of the hip, Hip oste... OMIM:314570
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Kniest Dysplasia
Short neck, Platyspondyly, Hypoplastic pelvis, Rhizomelia, Umbilical hernia, Dumbbell-shaped long... OMIM:156550
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Absent glenoid fossa, Clinodactyly of the 3rd finger, Short 1st met... ORPHA:96334
Osteogenesis Imperfecta, Type Viii
Kyphosis, Tibial bowing, Radial bowing, Dentinogenesis imperfecta, Wide anterior fontanel, Inguin... OMIM:610915
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Scoliosis, Tapered finger, Large hands, Obesity ORPHA:276630
Osteogenesis Imperfecta, Type Iii
Kyphosis, Tibial bowing, Wide anterior fontanel, Dentinogenesis imperfecta, Recurrent fractures, ... OMIM:259420
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Hypopigmentation of hair, Osteoporosis, Albinism ORPHA:2786
Mucolipidosis Iii Gamma
Kyphosis, Joint stiffness, Flat capital femoral epiphysis, Aortic valve stenosis, Flared iliac wi... OMIM:252605
Achondroplasia
Rhizomelia, Short long bone, Spinal canal stenosis, Narrow greater sciatic notch, Hip joint hyper... ORPHA:15
Hypophosphatemic Rickets, X-Linked Recessive
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Hyp... OMIM:300554
Bruck Syndrome
Kyphosis, Joint stiffness, Recurrent fractures, Talipes equinovarus, Platyspondyly, Scoliosis, Os... ORPHA:2771
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Failure to thrive, Hip dysplasia OMIM:620007
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Hypogonadotropic hypogonadism, Camptodactyly of finger, Micrognathia, Scoliosis, Osteop... ORPHA:48431
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Flexion contracture of finger, Talipes equinovarus, Flexion contracture... OMIM:618484
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Failure to thrive, Kyphosis, Joint stiffness, Short neck, Genu valgum, Hern... ORPHA:583
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Short toe, Hypergonadotropic hypogonadism, Brachydactyly, Hyperlordosis, Keloids, Secon... ORPHA:3085
Contractural Arachnodactyly, Congenital
Osteopenia, Short neck, Ulnar deviation of finger, Ventricular septal defect, Bowing of the long ... OMIM:121050
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Schaaf-Yang Syndrome
Kyphosis, Thick eyebrow, Flexion contracture, Small hand, Brachydactyly, Scoliosis, Tapered finge... OMIM:615547
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Carpenter Syndrome
Kyphoscoliosis, Talipes equinovarus, Craniosynostosis, Brachydactyly, Polydactyly, Syndactyly, Po... ORPHA:65759
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Sparse eyebrow, Tricuspid stenosis, Short neck, Hypoplasia of the capital femoral epiphysis, Vent... OMIM:143095
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Short neck, Platyspondyly, Flared femoral metaphysis, Sandal gap, ... ORPHA:1427
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of th... ORPHA:3082
Masa Syndrome
Kyphosis, Talipes equinovarus, Adducted thumb, Pes cavus, Hyperlordosis OMIM:303350
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Clinodactyly of the 5th finger, Thick eyebrow, Inguinal hernia, Small for gestational a... OMIM:615834
Myofibrillar Myopathy 10
Kyphosis, Flexion contracture of finger, Left ventricular hypertrophy, Sandal gap, Elbow flexion ... OMIM:619040
Dyschondrosteosis And Nephritis
Ulnar bowing, Short tibia, Radial bowing, Short forearm OMIM:127350
Disorder Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Reduced bone mineral density, Short neck, Abnormal hair pattern, Spina bifida occulta, ... ORPHA:2983
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Clinodactyly of the 5th finge... ORPHA:3320
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies, Upper limb ... ORPHA:93315
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
15Q24 Microdeletion Syndrome
Failure to thrive, Kyphosis, Abnormality of toe, Congenital diaphragmatic hernia, Small for gesta... ORPHA:94065
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... OMIM:618395
Gm1-Gangliosidosis, Type Iii
Kyphosis, Flared iliac wing, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Hypo... OMIM:230650
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Rhizomelia, Ovoid vertebral bodies, Sho... OMIM:618019
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Thanatophoric Dysplasia
Kyphosis, Joint stiffness, Atrial septal defect, Platyspondyly, Micromelia, Brachydactyly, Abnorm... ORPHA:2655
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Orofaciodigital Syndrome Ix
Hand polydactyly, Short tibia, Camptodactyly, Toe syndactyly OMIM:258865
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Areflexia of lower limbs, Pes cavus, Scoliosis, Split hand, Obesity, Premature ovarian ... OMIM:618124
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone resorption, Failure to thrive,... ORPHA:289157
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... OMIM:258860
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Clinodactyly of the 5th finger, Congenital foot contractures, Scoliosis, Limitation of ... ORPHA:3454
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Camurati-Engelmann Disease
Abnormality of femur morphology, Abnormality of the humerus, Genu valgum, Hypogonadism, Abnormal ... ORPHA:1328
Hypophosphatemic Rickets, X-Linked Dominant
Spinal canal stenosis, Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal d... OMIM:307800
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Joint stiffness, Tibial bowing, Flexion contracture, Absent ossification of capital femoral epiph... OMIM:245160
Shox-Related Short Stature
Forearm undergrowth, Tibial bowing, Micrognathia, Short neck, Scoliosis, Genu valgum, Short foot,... ORPHA:314795
Becker Nevus Syndrome
Kyphosis, Lipoatrophy, Supernumerary nipple, Micromelia, Scoliosis, Abnormality of tibia morpholo... ORPHA:64755
Marinesco-Sjogren Syndrome
Failure to thrive, Kyphosis, Flexion contracture, Hypergonadotropic hypogonadism, Scoliosis, Pes ... OMIM:248800
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Kyphosis, Brachydactyly, Scoliosis, Hypoplastic iliac wing, Hip d... ORPHA:1858
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... OMIM:300106
Cdkl5-Deficiency Disorder
Kyphosis, Broad proximal phalanges of the hand, Scoliosis, Hallux valgus, Synophrys ORPHA:505652
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Mucopolysaccharidosis, Type Vii
Coarse hair, Short neck, Platyspondyly, Anterior beaking of lumbar vertebrae, Genu valgum, Umbili... OMIM:253220
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Thick eyebrow, Scoliosis, Truncal obesity, Synophrys, Thick hair, Low posterior hairline ORPHA:2429
Atelosteogenesis, Type Iii
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Horizontal sacrum, Micrognat... OMIM:108721
Clark-Baraitser syndrome
Kyphosis, Genu recurvatum, Scoliosis, Tapered finger, Genu valgum, Joint laxity, Obesity, Short palm OMIM:300602
Alpha-Mannosidosis
Kyphosis, Inguinal hernia, Short neck, Scoliosis, Arthritis, Synostosis of joints, Hypoplastic in... ORPHA:61
Czech Dysplasia
Irregular vertebral endplates, Coxa vara, Short toe, Limitation of joint mobility, Flat capital f... OMIM:609162
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Dislocation of the femoral head, Kyphosis, Hyperextensibility of the finger joints, Frontal upswe... OMIM:619797
Fibrochondrogenesis 1
Short neck, Platyspondyly, Rhizomelia, Omphalocele, Dumbbell-shaped long bone, Short long bone, C... OMIM:228520
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Low anterior hairline, Postaxial polydactyly, Micrognathia, Broad distal phalanx of fin... OMIM:615761
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Clinodactyly of the 5th finger, Talipes equinovarus, Short femur, Micrognathia, Broad distal phal... OMIM:300990
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Arachnodactyly, Kyphosis, Joint stiffness, Scoliosis ORPHA:1548
Dent Disease 1
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Spa... OMIM:300009
3M Syndrome
Kyphosis, Increased vertebral height, Clinodactyly of the 5th finger, Thick eyebrow, Congenital h... ORPHA:2616
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Flexion contracture, Short neck, Scoliosis, Clinodactyly, Arthrogryposis multiplex cong... ORPHA:178148
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Short ribs, Platyspondyly, Brachydactyly, Postaxial polysyndactyly of foot,... OMIM:263520
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Inguinal hernia, Membranous subvalvular aortic stenosis, Micrognathia, Short neck, Syno... ORPHA:3191
Pelger-Huet Anomaly
Failure to thrive, Kyphosis, Pes cavus, Polydactyly, Upper limb undergrowth, Short 3rd metacarpal... OMIM:169400
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity OMIM:239500
Lopes-Maciel-Rodan Syndrome
Kyphosis, Small hand, Ankle clonus, Scoliosis, Short foot OMIM:617435
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... OMIM:613091
Brachyolmia Type 3
Kyphosis, Platyspondyly, Short neck, Short femoral neck, Scoliosis, Clinodactyly, Proximal femora... OMIM:113500
Atkin-Flaitz Syndrome
Kyphosis, Genu recurvatum, Scoliosis, Tapered finger, Genu valgum, Joint laxity, Obesity, Short palm OMIM:300431
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Joint hyperflexibility, Hypogonadism ORPHA:1875
Faciocardiomelic Dysplasia, Lethal
Small for gestational age, Hypoplasia of the radius, Micrognathia, Short 5th finger, Neonatal dea... OMIM:227270
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Highly arched eyebrow OMIM:609384
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Adducted thumb, Arachnodactyly, Shoulder dislocation, Scoliosis, Umbilical hernia, Join... ORPHA:2181
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Sandhoff Disease
Failure to thrive, Kyphosis ORPHA:796
Ruvalcaba Syndrome
Kyphosis, Generalized hirsutism, Clinodactyly of the 5th finger, Inguinal hernia, Small hand, Con... ORPHA:3121
Rothmund-Thomson Syndrome Type 1
Sparse hair, Metaphyseal sclerosis, Osteopenia, Sparse or absent eyelashes, Alopecia totalis, Hyp... ORPHA:221008
Gm1 Gangliosidosis
Platyspondyly, Ventricular septal defect, Abnormal epiphysis morphology, Abnormal metaphysis morp... ORPHA:354
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Delayed proximal femoral epiphyseal ossification, Short nail, Short neck, 11 pairs of ribs, Platy... OMIM:271640
Spondyloepiphyseal Dysplasia Congenita
Coxa vara, Kyphosis, Lumbar hyperlordosis, Talipes equinovarus, Atlantoaxial instability, Delayed... OMIM:183900
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Thin metacarpal cortices, C1-C2 subluxation, Thin bony cortex, Osteolysis involving t... OMIM:259600
Osteogenesis Imperfecta, Type Xi
Coxa vara, Kyphoscoliosis, Dentinogenesis imperfecta, Osteopenia, Scoliosis, Biconcave vertebral ... OMIM:610968
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Hypomelanosis Of Ito
Kyphosis, Alopecia, Syndactyly, Scoliosis, Radial deviation of finger, Clinodactyly, Hand polydac... OMIM:300337
Rothmund-Thomson Syndrome
Abnormal dental enamel morphology, Infertility, Sparse hair, Sparse eyebrow, Sparse eyelashes, Sm... ORPHA:2909
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Abnormal spermatogenesis, Oligospermia, Male infertility ORPHA:1646
Thanatophoric Dysplasia Type 2
Kyphosis, Atrial septal defect, Platyspondyly, Brachydactyly, Micromelia, Joint hyperflexibility,... ORPHA:93274
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Frontal upsweep of hair, Ventricular septal defect, Genu valgum, Joint hypermobility OMIM:617798
Laurin-Sandrow Syndrome
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... OMIM:135750
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617113
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... OMIM:304120
X-Linked Intellectual Disability, Cabezas Type
Kyphosis, Clinodactyly of the 5th finger, Inguinal hernia, Small hand, Cachexia, Pes cavus, Down-... ORPHA:85293
Acro-Renal-Mandibular Syndrome
Kyphosis, Butterfly vertebrae, Congenital diaphragmatic hernia, Split foot, Hypoplasia of the rad... ORPHA:958
Dyggve-Melchior-Clausen Syndrome, X-Linked
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Lumbar hyperlordosis, Hypoplastic ... OMIM:304950
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Inguinal hernia OMIM:261550
Stickler Syndrome, Type I
Kyphosis, Beaking of vertebral bodies, Joint stiffness, Spondylolisthesis, Arachnodactyly, Microg... OMIM:108300
4Q21 Microdeletion Syndrome
Kyphosis, Generalized hirsutism, Small hand, Short neck, Micromelia, Scoliosis, Long eyelashes, S... ORPHA:238750
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Hajdu-Cheney Syndrome
Abnormal cardiac septum morphology, Short nail, Foot acroosteolysis, Osteopenia, Short neck, Bico... OMIM:102500
Fountain Syndrome
Short distal phalanx of finger, Kyphosis, Metaphyseal dysplasia, Thick eyebrow, Brachydactyly, Sc... ORPHA:3219
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Sparse hair, Osteopenia, Atlantoaxial abnormality, Cervical ... ORPHA:3455
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Pes cavus, Scoliosis ORPHA:101075
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Sialidosis Type 2
Kyphosis, Flexion contracture, Inguinal hernia, Osteoporosis, Pedal edema, Umbilical hernia ORPHA:87876
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619528
Ullrich Congenital Muscular Dystrophy 1
Slender build, Failure to thrive, Kyphosis, Talipes equinovarus, Spinal rigidity, Flexion contrac... OMIM:254090
Baralle-Macken Syndrome
Kyphosis, Hirsutism, Tapered finger, Pes planus, Obesity OMIM:619255
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Kyphosis, Joint stiffness, Decreased cervical spine flexion due to contractures of posterior cerv... ORPHA:98855
Rothmund-Thomson Syndrome Type 2
Sparse hair, Metaphyseal sclerosis, Osteopenia, Sparse or absent eyelashes, Alopecia totalis, Abn... ORPHA:221016
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619689
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal cementum morphology, Abnormal trabecular bone morphology, Abno... ORPHA:83451
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Hurler Syndrome
Calvarial hyperostosis, Short neck, Hypoplasia of the femoral head, Biconcave vertebral bodies, C... OMIM:607014
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Sparse eyebrow, Alopecia, Short neck, Long foot, Talipes equ... OMIM:264090
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Tapered finger OMIM:618512
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Cone-shaped epiphyses of the phalanges of the hand, Failure to thrive, Kyph... ORPHA:420794
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Mesomelic arm shortening, Short humer... OMIM:171480
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Kyphosis, Small hand, Pes cavus, Brachydactyly, Pes planus, Sandal gap, Short ... OMIM:300354
Paget Disease Of Bone 5, Juvenile-Onset
Failure to thrive, Kyphosis, Recurrent fractures, Increased bone mineral density, Osteopenia, Sho... OMIM:239000
Pelvis-Shoulder Dysplasia
Dislocated radial head, Lumbar hyperlordosis, Talipes equinovarus, Facial hirsutism, Aplasia/Hypo... ORPHA:2839
Osteogenesis Imperfecta, Type Iv
Kyphosis, Recurrent fractures, Dentinogenesis imperfecta, Femoral bowing present at birth, straig... OMIM:166220
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Flexion contracture, Micrognathia, Scoliosis, Osteoporosis, Lipodystrophy, Hypogonadism OMIM:615381
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Pycnodysostosis
Rhizomelia, Spondylolisthesis, Increased bone mineral density, Micrognathia, Scoliosis, Hyperlord... ORPHA:763
Autosomal Recessive Spastic Paraplegia Type 53
Failure to thrive, Kyphosis, Joint hyperflexibility ORPHA:319199
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Small abnormally formed scapulae, Tibial bowing, Ta... ORPHA:140
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Geroderma Osteodysplasticum
Irregular vertebral endplates, Beaking of vertebral bodies, Tibial bowing, Kyphoscoliosis, Recurr... OMIM:231070
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
X-Linked Emery-Dreifuss Muscular Dystrophy
Kyphosis, Joint stiffness, Decreased cervical spine flexion due to contractures of posterior cerv... ORPHA:98863
Hajdu-Cheney Syndrome
Osteopenia, Coarse hair, Short neck, Biconcave vertebral bodies, Ventricular septal defect, Osteo... ORPHA:955
Emery-Dreifuss Muscular Dystrophy
Kyphosis, Joint stiffness, Decreased cervical spine flexion due to contractures of posterior cerv... ORPHA:261
3C Syndrome
Abnormal mitral valve morphology, Kyphosis, Atrial septal defect, Aortic valve stenosis, Hypoplas... ORPHA:7
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Kyphosis, Joint stiffness, Decreased cervical spine flexion due to contractures of posterior cerv... ORPHA:98853
Mitochondrial Myopathy And Sideroblastic Anemia
Micrognathia, Distichiasis, Kyphosis, Scoliosis ORPHA:2598
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Short nail, Femoral bowing, Short 1st metacarpal, 11 pairs of... OMIM:114290
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Sparse hair, Brittle hair, Arachnodactyly, Camptodactyly of finger, Coarse hair, Scolio... ORPHA:1883
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Thigh hypertrophy, Calf muscle hypertrophy, Scoliosis, Hyperlordosis, Vertebral fusion,... OMIM:606612
19P13.12 Microdeletion Syndrome
Kyphosis, Generalized hirsutism, Clinodactyly of the 5th finger, Toe clinodactyly, Atrial septal ... ORPHA:254346
Poland Syndrome
Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Vertebral segmentat... ORPHA:2911
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal dental enamel morphology, Kyphosis, Clinodactyly of the 5th finger, Hypoplastic vertebra... ORPHA:2916
2Q31.1 Microdeletion Syndrome
Short neck, Tapered finger, Ventricular septal defect, Abnormality of fibula morphology, Sandal g... ORPHA:251014
Weaver Syndrome
Sparse hair, Prominent fingertip pads, Short fourth metatarsal, Flared humeral metaphysis, Flared... OMIM:277590
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Pes cavus, Scoliosis ORPHA:101078
Mend Syndrome
Overlapping toe, Kyphosis, 2-3 toe syndactyly, Aortic valve stenosis, Microretrognathia, Overlapp... OMIM:300960
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Failure to thrive, Flexion contracture, Short femur, Short humerus, Polydactyly, Patent ductus ar... ORPHA:17
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality of fibula ... ORPHA:3035
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Arachnodactyly, Kyphosis, Joint laxity OMIM:248760
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
8Q24.3 Microdeletion Syndrome
Abnormal cricoid cartilage morphology, Atrioventricular canal defect, Congenital hip dislocation,... ORPHA:508488
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Kyphosis, Anomalous pulmonary venous return, Congenital diaphragma... ORPHA:2311
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Tibial bowing, Small for gestational age, Platyspondyly, Limb undergrowth, A... OMIM:166210
Dysostosis, Stanescu Type
Kyphosis, Increased bone mineral density, Massively thickened long bone cortices, Short neck, Mic... ORPHA:1798
Mcdonough Syndrome
Kyphosis, Micrognathia, Cachexia, Scoliosis, Synophrys ORPHA:2471
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Pes cavus, Scoliosis OMIM:610743
Classical-Like Ehlers-Danlos Syndrome Type 2
Alopecia, Osteopenia, Hammertoe, Phalangeal dislocation, Ventral hernia, Sandal gap, Umbilical he... ORPHA:536532
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Orofaciodigital Syndrome Type 2
Mesomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Broad first metatar... ORPHA:2751
Frank-Ter Haar Syndrome
Osteopenia, Ventricular septal defect, Bowing of the long bones, Short long bone, Double outlet r... OMIM:249420
Flynn-Aird Syndrome
Kyphosis, Joint stiffness, Bone cyst, Alopecia, Cachexia, Scoliosis ORPHA:2047
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Kyphoscoliosis, Lumbar hyperlord... OMIM:184253
Cartilage-Hair Hypoplasia
Abnormal cardiac septum morphology, Sparse hair, Sparse eyebrow, Abnormally ossified vertebrae, S... ORPHA:175
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Gm1-Gangliosidosis, Type I
Kyphosis, Hypertrichosis, Hypoplastic vertebral bodies, Beaking of vertebral bodies, Joint stiffn... OMIM:230500
Otopalatodigital Syndrome Type 2
Abnormal cardiac septum morphology, Bowing of the long bones, Omphalocele, Carpal synostosis, Inc... ORPHA:90652
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Infertility, Ankle clonus, Pes cavus, Scoliosis OMIM:614409
Crisponi Syndrome
Kyphosis, Flexion contracture, Micrognathia, Camptodactyly of finger, Scoliosis, Limitation of jo... ORPHA:1545
Melnick-Needles Syndrome
Tricuspid valve prolapse, Cone-shaped epiphyses of the phalanges of the hand, Coarse hair, Osteol... OMIM:309350
Hemifacial Atrophy, Progressive
Poliosis, Kyphosis, Patchy alopecia, Short mandibular rami OMIM:141300
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Failure to thrive, Kyphosis, Short neck, Hip dislocation, Per... OMIM:608776
Acromesomelic Dysplasia 3
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Hypergonadotrop... OMIM:609441
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Craniosynostosis, Severe platyspondyly, Sacral dimple, Narrow greater sciatic notch, Increased in... ORPHA:508533
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Trisomy 20P
Coarse hair, Short neck, Platyspondyly, Umbilical hernia, Vertebral segmentation defect, Thick ey... ORPHA:261318
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity OMIM:619927
Typical Nemaline Myopathy
Kyphosis, Spinal rigidity, Flexion contracture, Micrognathia, Short neck, Scoliosis, Genu varum, ... ORPHA:171436
Eiken Syndrome
Delayed epiphyseal ossification, Long hallux, Decreased body weight, Delayed tarsal ossification,... OMIM:600002
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Hypertrichosis, Scoliosis, Synophrys ORPHA:85317
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Talipes equinovarus, Bilateral talipes equinovarus, Mirror image foot polydactyly, Patellar hypop... OMIM:119800
Distal Tetrasomy 15Q
Kyphosis, Atrial septal defect, Flexion contracture, Craniosynostosis, Arachnodactyly, Micrognath... ORPHA:314588
Acrorenal-Mandibular Syndrome
Absent nipple, Kyphoscoliosis, Butterfly vertebrae, Congenital diaphragmatic hernia, Split foot, ... OMIM:200980
Cole-Carpenter Syndrome
Kyphosis, Recurrent fractures, Micrognathia, Scoliosis, Abnormal form of the vertebral bodies, Jo... ORPHA:2050
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis, Hirsutism, Clinodactyly of the 5th finger, Atrial septal defect, 2-3 toe syndactyly, Th... OMIM:617061
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal dental enamel morphology, Vertebral segmentation defect, Kyphosis, Clinodactyly of the 5... ORPHA:1005
Lateral Meningocele Syndrome
Kyphosis, Bicuspid aortic valve, Sclerosis of skull base, Inguinal hernia, Micrognathia, Coarse h... OMIM:130720
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, 2-3 toe syndactyly, Secundum atrial septal defect, Supernumerary nipple, Joint hypermob... OMIM:619951
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Thigh hypertrophy, Calf muscle hypertrophy, Scoliosis, Hyperlordosis, Dilated cardiomyo... OMIM:607155
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Ulnar/Fibular Ray Defect And Brachydactyly
Atrial septal defect, Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower... OMIM:608571
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... OMIM:166740
Myopathy, Centronuclear, 2
Kyphosis, Talipes equinovarus, Flexion contracture, Pes cavus, Scoliosis, Hyperlordosis OMIM:255200
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Talipes equinovarus, Joint hypermobility, Hyperextensibility of the finger joints, Scol... OMIM:617821
Emanuel Syndrome
Kyphosis, Aortic valve stenosis, Atrial septal defect, Congenital diaphragmatic hernia, Inguinal ... OMIM:609029
Zimmermann-Laband Syndrome 2
Kyphosis, Hirsutism, Hypertrichosis, Thick eyebrow, Short neck, Long eyelashes, Synophrys, Widow'... OMIM:616455
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Kyphosis, Microretrognathia, Talipes equinovarus, Flexion contracture, Short nec... OMIM:301041
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Scapuloperoneal Spinal Muscular Atrophy
Peroneal muscle weakness, Kyphosis, Talipes equinovarus, Small hand, Scoliosis, Hyperlordosis, Cl... OMIM:181405
Marfanoid Habitus With Situs Inversus
Kyphosis, Genu recurvatum, Pulmonic stenosis, Arachnodactyly, Hyperextensibility of the finger jo... OMIM:609008
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Kyphosis, Clinodactyly of the 5th finger, Thick eyebrow, Slender finger, Small hand, Micrognathia... OMIM:618443
Marden-Walker Syndrome
Kyphosis, Wide anterior fontanel, Talipes equinovarus, Joint contracture of the hand, Inguinal he... OMIM:248700
Wieacker-Wolff Syndrome
Kyphosis, Talipes equinovarus, Congenital foot contractures, Micrognathia, Short neck, Scoliosis,... OMIM:314580
Cleidocranial Dysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Absent frontal sinuses, Spondylolisthesis, In... OMIM:119600
Cousin Syndrome
Facial hirsutism, Rhizomelia, Absent proximal finger flexion creases, Clinodactyly of the 5th fin... OMIM:260660
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Infertility, Failure to thrive, Kyphosis, Atrial septal defect, Flexion contra... ORPHA:398069
Alg1-Cdg
Kyphosis, Scoliosis, Cardiomyopathy, Limitation of joint mobility, Abnormal heart morphology ORPHA:79327
Trisomy 13
Ectrodactyly, Kyphosis, Atrial septal defect, Scoliosis, Ventricular septal defect, Postaxial han... ORPHA:3378
Sjögren-Larsson Syndrome
Kyphosis, Joint stiffness, Scoliosis, Abnormal dental enamel morphology ORPHA:816
Cole-Carpenter Syndrome 2
Kyphosis, Microretrognathia, Dentinogenesis imperfecta, Coronal craniosynostosis, Osteopenia, Pla... OMIM:616294
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Short neck, Micromelia, Platyspondyly, Long eyelashes in irregular... ORPHA:800
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Atrial septal defect, Postaxial polydactyly, Ventricular septal def... OMIM:603387
Coffin-Lowry Syndrome
Short distal phalanx of finger, Abnormal mitral valve morphology, Kyphosis, Abnormal aortic valve... ORPHA:192
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Structural foot deformity, Scoliosis, Hip dislocation, Obesity ORPHA:464282
Cohen Syndrome
Tapered finger, Ventricular septal defect, Genu valgum, Long eyelashes, Sandal gap, Failure to th... ORPHA:193
Familial Osteodysplasia, Anderson Type
Kyphosis, Recurrent fractures, Clinodactyly of the 5th finger, Thick eyebrow, Scoliosis, Abnormal... ORPHA:2769
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Down-sloping shoulders, Short neck, Ulnar deviation of finger, Umbil... OMIM:265000
Mitochondrial Dna Depletion Syndrome 11
Hypergonadotropic hypogonadism, Kyphosis, Dilated cardiomyopathy, Spinal rigidity OMIM:615084
Prader-Willi Syndrome
Osteopenia, Primary amenorrhea, Genu valgum, Failure to thrive in infancy, Abdominal obesity, Hyp... OMIM:176270
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, 2-3 toe syndactyly, Low anterior hairline, Postaxial polydactyly, Micrognathia, Broad d... ORPHA:404440
Marshall-Smith Syndrome
Hypertrichosis, Short sternum, Slender finger, Prominent fingertip pads, Sparse hair, Distal wide... OMIM:602535
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Abnormal eyebrow morphology, Impotence, Kyphosis, Lumbar hyperlordosis, Sparse eyebr... ORPHA:2232
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Kyphosis, Osteoporosis, Vertebral compression fracture ORPHA:85193
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Abnorm... ORPHA:1788
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... ORPHA:2634
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Ventricula... OMIM:274000
Osteopathia Striata With Cranial Sclerosis
Ventricular septal defect, Omphalocele, Clinodactyly of the 5th finger, Talipes equinovarus, Trac... OMIM:300373
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Slender build, Kyphosis, Scoliosis, Long foot OMIM:300676
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Abnormal hip bone morphology, Micrognathia, Short neck, Hyperlordosis, Fused cervical v... ORPHA:2522
Osteogenesis Imperfecta
Abnormality of femur morphology, Femoral bowing, Osteopenia, Micromelia, Biconcave vertebral bodi... ORPHA:666
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Calf muscle hypertrophy, Kyphosis, Elbow flexion contracture OMIM:618138
Microphthalmia With Limb Anomalies
Tibial bowing, Abnormal hair morphology, Talipes equinovarus, Hand oligodactyly, Camptodactyly of... OMIM:206920
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Joint hypermobili... OMIM:114000
Femoral-Facial Syndrome
Short fourth metatarsal, Hemivertebrae, Radioulnar synostosis, Ventricular septal defect, Short f... OMIM:134780
Kleefstra Syndrome 2
Kyphosis, Thick eyebrow, Scoliosis OMIM:617768
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Kyphosis, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Micrognathia, Sc... ORPHA:476126
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Hemivertebrae, Short neck, Decreased c... OMIM:276820
Mucolipidosis Type Ii
Abnormal mitral valve morphology, Craniosynostosis, Decreased movement range in interphalangeal j... ORPHA:576
Mgat2-Cdg
Failure to thrive, Hirsutism, Kyphosis, Osteopenia, Brachydactyly, Scoliosis, Hypoplastic nipples... ORPHA:79329
Lateral Meningocele Syndrome
Kyphosis, Craniofacial hyperostosis, Inguinal hernia, Micrognathia, Short neck, Scoliosis, Abnorm... ORPHA:2789
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Pes cavus, Scoliosis ORPHA:99014
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Kyphosis, Lipoatrophy, Craniosynostosis, Arachnodactyly, Hyp... OMIM:616914
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Hirsutism, Scoliosis, Synophrys OMIM:300861
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Kyphosis, Spinal rigidity, Hypergonadotropic hypogonadism, Neuropathic spinal arthropathy, Dilate... ORPHA:352447
Fucosidosis
Kyphosis, Failure to thrive, Lipoatrophy, Anterior beaking of lumbar vertebrae, Cardiomegaly ORPHA:349
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Metaphyseal widening, Platyspondyly, Kyphosis OMIM:618476
Seckel Syndrome 1
Dislocated radial head, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5... OMIM:210600
Koolen-De Vries Syndrome
Failure to thrive, Bicuspid aortic valve, Abnormality of hair texture, Atrial septal defect, Slen... OMIM:610443
Atypical Rett Syndrome
Small hand, Kyphosis, Scoliosis, Short foot ORPHA:3095
Harrod Syndrome
Failure to thrive, Kyphosis, Arachnodactyly, Scoliosis, Abnormal shoulder morphology, Abnormal pe... ORPHA:2115
Fibular Dimelia-Diplopodia Syndrome
Sacrococcygeal teratoma, Absent tibia ORPHA:1757
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Hypertrichosis, Joint hyperflexibility OMIM:614898
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... OMIM:164900
Gaucher Disease Type 1
Kyphosis, Increased bone mineral density, Osteopenia, Osteoarthritis, Pathologic fracture, Pedal ... ORPHA:77259
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Femoral retroversion, Micromelia, Scoliosis, Hypoplastic scapulae ORPHA:79107
Genitopalatocardiac Syndrome
Abnormal cardiac septum morphology, Kyphosis, Congenital diaphragmatic hernia, Micrognathia, Brac... ORPHA:2075
Oncogenic Osteomalacia
Abnormality of femur morphology, Tibial bowing, Fibrous dysplasia of the bones, Pathologic fractu... ORPHA:352540
Robinow Syndrome, Autosomal Dominant 3
Short neck, Kyphosis, Micrognathia, Hypoplastic right heart, Brachydactyly, Short phalanx of fing... OMIM:616894
Wolf-Hirschhorn Syndrome
Abnormal cardiac septum morphology, Sacral dimple, Talipes equinovarus, Micrognathia, Abnormality... ORPHA:280
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Wide anterior fontanel, Lumbar hyperlordosis, Platyspondyly, Mesomelia, Rhizomelia OMIM:616482
Dent Disease
Metaphyseal irregularity, Delayed epiphyseal ossification, Bowing of the legs, Sparse bone trabec... ORPHA:1652
Pontocerebellar Hypoplasia, Type 17
Kyphosis, Low anterior hairline, Secundum atrial septal defect, Microretrognathia, Ventricular se... OMIM:619909
Lenz-Majewski Hyperostotic Dwarfism
Elbow ankylosis, Symphalangism affecting the phalanges of the hand, Hypogonadism, Abnormal metaph... ORPHA:2658
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Micrognathia, Osteopenia, Scoliosis, Genu varum, Tapered finger, Metatarsus valgus, Joi... ORPHA:2479
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Abnormal cardiac septum morphology, Scoliosis, Sparse hair OMIM:616449