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Gene: Aktip MGI:3693832

Gene Summary

Name:

AKT interacting protein

Synonyms:

Ft1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating aspartate transaminase level	Aktip^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.23×10^-05
abnormal retina morphology	Aktip^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.37×10^-05
abnormal gait	Aktip^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.86×10^-05
decreased bone mineral density	Aktip^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	8.18×10^-14
hyperactivity	Aktip^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.95×10^-09
decreased bone mineral content	Aktip^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.15×10^-08

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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.

Eye Morphology

Images Ophthalmoscopy

12 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Immunophenotyping

Panel A FCS file(s)

5 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Immunophenotyping

Panel B FCS file(s)

3 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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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.

Human diseases associated with Aktip (0 diseases)
Human diseases predicted to be associated with Aktip (676 diseases)

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	Matching phenotypes	Source
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh...	OMIM:118651
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Retinal Dysplasia, Primary	Falciform retinal fold, Retinal dysplasia	OMIM:312550
Eiken Syndrome	Fibular hypoplasia, Abnormal bone ossification, Delayed epiphyseal ossification, Abnormal acetabu...	ORPHA:79106
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femor...	OMIM:619598
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
Fibular Hemimelia	Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog...	ORPHA:93323
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ...	OMIM:607778
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol...	ORPHA:93405
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra...	OMIM:112910
Parastremmatic Dwarfism	Genu valgum, Scoliosis, Bowing of the long bones, Kyphosis, Flexion contracture, Short neck	OMIM:168400
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Spinal rigidity, Reduced bone mineral density, Short long bone, Flat acet...	ORPHA:94068
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,...	OMIM:127300
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga...	ORPHA:1972
Hip Dysplasia, Beukes Type	Abnormal bone ossification, Abnormality of bone mineral density, Scoliosis, Kyphosis, Coxa vara, ...	ORPHA:2114
Brachyolmia Type 1, Hobaek Type	Short iliac bones, Squared-off platyspondyly, Lumbar hypolordosis, Osteopenia, Platyspondyly, Int...	OMIM:271530
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Epiphyseal stippling, Failure to thrive, Short humerus, Short femur	OMIM:600121
Intellectual Developmental Disorder, Autosomal Dominant 33	Hyperactivity, Chorioretinal degeneration	OMIM:616311
Schizophrenia 15	Hyperactivity	OMIM:613950
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Reduced bone mineral density, Inguinal hernia, Delayed ossification of carpal bones, Decreased bo...	OMIM:618392
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Cardiomegaly, Flared metaphysis, Short ribs, Decreased skull ossification, Hypertroph...	OMIM:616897
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Pseudoachondroplasia	Abnormal form of the vertebral bodies, Short long bone, Increased laxity of ankles, Flat acetabul...	ORPHA:750
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R...	OMIM:249700
Femoral-Facial Syndrome	Abnormal fibula morphology, Inguinal hernia, Scoliosis, Vertebral segmentation defect, Abnormal p...	ORPHA:1988
Acromesomelic Dysplasia, Maroteaux Type	Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,...	ORPHA:40
Metatropic Dysplasia	Narrow greater sciatic notch, Kyphoscoliosis, Relatively short spine, Short ribs, Long coccyx, Fl...	OMIM:156530
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Slc35A2-Cdg	Osteopenia, Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Craniosynostosis...	ORPHA:356961
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	Hyperactivity, Dysphagia, Impulsivity, Gait ataxia	OMIM:620448
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli...	ORPHA:240
Thanatophoric Dysplasia Type 1	Abnormal metaphysis morphology, Atrial septal defect, Short greater sciatic notch, Wide anterior ...	ORPHA:1860
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo...	OMIM:201250
Winchester Syndrome	Carpal osteolysis, Hirsutism, Broad metacarpals, Kyphosis, Generalized osteoporosis, Osteolysis i...	OMIM:277950
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Genu valgum, Fibular bowing, Generalized bone demineralization, Rickets of the lower lim...	OMIM:600785
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl...	ORPHA:2098
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ...	ORPHA:93314
Bent Bone Dysplasia Syndrome 2	Osteopenia, Butterfly vertebrae, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Short tibia...	OMIM:620076
Spastic Paraplegia 18B, Autosomal Recessive	Pes cavus, Scoliosis, Kyphosis, Joint contracture, Ankle clonus	OMIM:611225
Zimmermann-Laband Syndrome 3	Aplasia of the distal phalanx of the 5th toe, Triphalangeal thumb, Thick hair, Absent distal phal...	OMIM:618658
Atelosteogenesis Type Ii	Sandal gap, Tracheobronchomalacia, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shap...	ORPHA:56304
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Flared femoral metaphysis, Genu valgum, Flat distal femoral epiphysis, Arthralgia of the hip, Cox...	OMIM:609324
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Epiphyseal Dysplasia, Multiple, 1	Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific...	OMIM:132400
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Kyphoscoliosis, Delayed pubic bone ossification, Proximal placement of thumb, Hypoplastic iliac w...	OMIM:613330
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Spondyloepiphyseal Dysplasia Tarda	Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse...	ORPHA:93284
Epiphyseal Dysplasia, Multiple, 7	Monkey wrench femoral neck, Vertebral wedging, Flat acetabular roof, Epiphyseal dysplasia, Hypopl...	OMIM:617719
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo...	ORPHA:3344
Atelosteogenesis, Type I	Tibial bowing, Clubbing, Short metacarpal, Short humerus, Thoracic platyspondyly, Fibular aplasia...	OMIM:108720
Osteogenesis Imperfecta, Type X	Osteopenia, Genu valgum, Fibular bowing, Rhizomelia, Inguinal hernia, Vertebral compression fract...	OMIM:613848
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Scoliosis, Amelia, Omphalocele, Foot oligodactyly, Short femur, Ventricular septal defect	OMIM:601357
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip subluxation, Platyspondyly, Wide distal femoral metaphysis, Arthralgia of the hip, Abnormal i...	ORPHA:99642
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Clinodactyly of the 5th finger, Kyphosis, Camptodactyly, Short thumb, Overlapping toe	OMIM:618453
Achondroplasia	Narrow greater sciatic notch, Femoral bowing, Short ribs, Trident hand, Lumbar kyphosis in infanc...	OMIM:100800
Ivic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T...	OMIM:147750
Pseudoachondroplasia	Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi...	OMIM:177170
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Optic atrophy, Broad-based gait, Hyperactivity, Elbow flexion contracture, Motor stereotypy, Aggr...	OMIM:619470
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di...	OMIM:603546
Morm Syndrome	Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior	ORPHA:75858
Osteomesopyknosis	Sclerotic vertebral body, Abnormal cortical bone morphology, Abnormal form of the vertebral bodie...	ORPHA:2777
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Abnormal tricuspid valve morphology, Abnormal form of the vertebr...	ORPHA:1354
Diastrophic Dysplasia	Kyphoscoliosis, Short finger, Genu valgum, Irregular epiphyses, Small for gestational age, Hitchh...	OMIM:222600
Paget Disease Of Bone 2, Early-Onset	Vertebral compression fracture, Sandwich appearance of vertebral bodies, Osteosclerosis of the ul...	OMIM:602080
Brachyolmia Type 1, Toledo Type	Kyphoscoliosis, Squared-off platyspondyly, Abnormal odontoid process morphology, Precocious costo...	OMIM:271630
Congenital Disorder Of Glycosylation, Type Ig	Hypoplasia of the radius, Butterfly vertebrae, Rhizomelia, Sandal gap, Patent foramen ovale, Shor...	OMIM:607143
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, Coxa vara, Mi...	OMIM:147891
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti...	OMIM:312700
Smith-Magenis syndrome	Hyperactivity, Self-mutilation, Motor stereotypy	DECIPHER:8
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated...	OMIM:605274
Atelosteogenesis Type I	Abnormal fibula morphology, Absent or minimally ossified vertebral bodies, Rhizomelia, Scoliosis,...	ORPHA:1190
Spondyloepiphyseal Dysplasia, Stanescu Type	Kyphoscoliosis, Beaking of vertebral bodies, Internal tibial torsion, Stiff neck, Vertebral wedgi...	OMIM:616583
Intellectual Developmental Disorder, X-Linked 109	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	OMIM:309548
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Kyphosis, Slender metacarpals, Metaphyseal irregularity, Joint hypermobility, Gen...	ORPHA:93360
Desbuquois Dysplasia 1	Sandal gap, Hyperlordosis, Flat acetabular roof, Kyphosis, Broad femoral neck, Bifid distal phala...	OMIM:251450
X-Linked Intellectual Disability, Stocco Dos Santos Type	Congenital bilateral hip dislocation, Hirsutism, Kyphosis, Small for gestational age, Talipes equ...	ORPHA:85288
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Motor stereotypy, Hyperprolinemia, Aggressive behavior	OMIM:239500
Fraxe Intellectual Disability	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	ORPHA:100973
Pelviscapular Dysplasia	Elbow flexion contracture, Hypoplastic ilia, Low posterior hairline, Congenital hip dislocation, ...	ORPHA:93333
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Scoliosis, Hirsutism, Kyphosis, Hip dislocation, Short foot, Talipes equinovarus, Small hand	OMIM:300434
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Absent pate...	OMIM:601559
Orofaciodigital Syndrome Type 10	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin...	ORPHA:2756
Metatropic Dysplasia	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal intervertebral disk morp...	ORPHA:2635
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb muscle weakness, Scoliosis, Elbow flexion contracture, Hyperlordosis, Proximal ...	OMIM:600175
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Kyphoscoliosis, Short long bone, Hyperlordosis, Knee dislocation, Joint hypermobility, Coxa valga...	OMIM:618363
Progressive Pseudorheumatoid Arthropathy Of Childhood	Hyperlordosis, Generalized osteoporosis, Broad femoral neck, Abnormality of hand joint mobility, ...	ORPHA:1159
Bethlem Myopathy 2	Distal joint hypermobility, Scoliosis, Atrophic scars, Kyphosis, Flexion contracture, Hip disloca...	OMIM:616471
Multiple Epiphyseal Dysplasia, Beighton Type	Lumbar platyspondyly, Abnormal hand metaphysis morphology, Biconcave vertebral bodies, Joint stif...	ORPHA:166011
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity...	ORPHA:93322
Multiple Epiphyseal Dysplasia, Lowry Type	Fibular hypoplasia, Genu valgum, Rhizomelia, Fixed elbow flexion, Small epiphyses, Delayed epiphy...	ORPHA:166016
Metaphyseal Chondrodysplasia, Schmid Type	Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia...	OMIM:156500
Weismann-Netter Syndrome	Fibular bowing, Anterior tibial bowing, Scoliosis, Horizontal sacrum, Calvarial hyperostosis, Kyp...	OMIM:112350
Spondylometaphyseal Dysplasia, X-Linked	Short finger, Hyperextensibility of the finger joints, Kyphosis, Thoracolumbar scoliosis, Hip con...	OMIM:313420
Rhizomelic Syndrome, Urbach Type	Rhizomelia, Triphalangeal thumb, Abnormal form of the vertebral bodies, Abnormal hair quantity, W...	ORPHA:3098
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short...	OMIM:612447
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Congenital bilateral hip dislocation, Hallux valgus, Atrophic scars, Scoliosis, Prema...	OMIM:130060
Hall-Riggs Syndrome	Scoliosis, Kyphosis, Osteoporosis, Enamel hypoplasia, Failure to thrive, Metaphyseal dysplasia, B...	OMIM:234250
Fetal Akinesia Deformation Sequence 4	Rocker bottom foot, 11 pairs of ribs, Camptodactyly, Kyphosis, Micrognathia, Neonatal death, Shor...	OMIM:618393
Microphthalmia With Limb Anomalies	Sandal gap, Abnormal form of the vertebral bodies, Tibial bowing, Short long bone, Broad thumb, A...	ORPHA:1106
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Short neck, Dilated car...	OMIM:300718
Progressive Pseudorheumatoid Dysplasia	Kyphoscoliosis, Abnormal foot morphology, Sclerotic vertebral endplates, Platyspondyly, Enlarged ...	OMIM:208230
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Compulsive behaviors, Phonic tics, Unsteady gait, Aggressive behavior	OMIM:301107
Borjeson-Forssman-Lehmann Syndrome	Cervical spinal canal stenosis, Shortening of all middle phalanges of the fingers, Scoliosis, Kyp...	OMIM:301900
Microcephaly-Micromelia Syndrome	Craniosynostosis, Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synos...	OMIM:251230
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Attention deficit hyperactivity disorder, Ataxia, Impulsivity	OMIM:617113
Dysspondyloenchondromatosis	Kyphoscoliosis, Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, Genu valgum, Pl...	ORPHA:85198
Bruck Syndrome 1	Ankle flexion contracture, Vertebral wedging, Scoliosis, Elbow flexion contracture, Kyphosis, Cox...	OMIM:259450
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal metaphysis morphology, Osteopenia, Platyspondyly, Flat capital femoral epiphysis, Broad ...	ORPHA:157965
Endove Syndrome, Limb-Only Type	Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ...	OMIM:619217
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Tibial bowin...	OMIM:600081
Acrofacial Dysostosis Syndrome Of Rodriguez	Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Wide anterior fontanel, Oligodactyly, ...	OMIM:201170
Orofaciodigital Syndrome Viii	Polydactyly, Short tibia, Syndactyly	OMIM:300484
Spondylocostal Dysostosis 3, Autosomal Recessive	Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,...	OMIM:609813
Urban-Rogers-Meyer Syndrome	Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Recurr...	ORPHA:3409
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal foot morphology, Aplasia/hypoplasia in...	ORPHA:75508
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Kyphoscoliosis, Secondary amenorrhea, Hirsutism, Lumbar scoliosis, Lower limb undergrowth, Brachy...	OMIM:612847
Spondyloperipheral Dysplasia	Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Short distal phala...	OMIM:271700
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Pes cavus, Distal lower limb muscle weakness, Pes planus, Knee flexion contracture, Scoliosis, Hy...	OMIM:615290
Atelosteogenesis Type Iii	Short tubular bones of the hand, Fibular aplasia, Thoracolumbar kyphosis, Epiphyseal stippling of...	ORPHA:56305
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Femoral bowing, Micromelia, Dumbbell-shaped long bone, Micrognathia, Metaphyseal wide...	ORPHA:440354
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Kyphoscoliosis, Medial flaring of the eyebrow, Finger joint contracture, Synophrys, Symphalangism...	OMIM:620494
Kyphomelic Dysplasia	Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b...	OMIM:211350
Acheiropody	Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to...	OMIM:200500
Ruvalcaba Syndrome	Limited elbow extension, Short metatarsal, Inguinal hernia, Scoliosis, Short metacarpal, Kyphosis...	OMIM:180870
Holt-Oram Syndrome	Atrial septal defect, Atrioventricular canal defect, Triphalangeal thumb, Abnormal metacarpal mor...	ORPHA:392
Spondyloepimetaphyseal Dysplasia, Missouri Type	Small epiphyses, Flared metaphysis, Pear-shaped vertebrae, Knee osteoarthritis, Femoral bowing, T...	ORPHA:93356
Diastrophic Dysplasia	Abnormal metaphysis morphology, Short finger, Proximal placement of thumb, Abnormal metacarpal mo...	ORPHA:628
Mitochondrial Complex I Deficiency, Nuclear Type 15	Hypertrophic cardiomyopathy, Kyphosis, Failure to thrive, Neonatal death, Flexion contracture	OMIM:618237
Mucopolysaccharidosis, Type Iva	Hyperlordosis, Kyphosis, Constricted iliac wing, Joint hypermobility, Coxa valga, Cervical sublux...	OMIM:253000
Smith-Mccort Dysplasia 1	Beaking of vertebral bodies, Genu valgum, Irregular epiphyses, Hypoplastic acetabulae, Scoliosis,...	OMIM:607326
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia	OMIM:246570
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Scoliosis, Areflexia of lower limbs, Kyphosis, Hand clenching, Micrognathia, ...	OMIM:611890
Dyggve-Melchior-Clausen Disease	Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape...	OMIM:223800
Multiple Epiphyseal Dysplasia Type 4	Skewfoot, Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Abnormal forearm bo...	ORPHA:93307
Spondylometaphyseal Dysplasia, Kozlowski Type	Narrow greater sciatic notch, Kyphoscoliosis, Carpal bone hypoplasia, Abnormal foot morphology, C...	OMIM:184252
Osteogenesis Imperfecta, Type Ix	Scoliosis, Kyphosis, Decreased calvarial ossification, Multiple prenatal fractures, Short lower l...	OMIM:259440
Myopathic Ehlers-Danlos Syndrome	Kyphoscoliosis, Hyperlordosis, Congenital finger flexion contractures, Kyphosis, Joint hypermobil...	ORPHA:536516
Microcephalic Primordial Dwarfism, Montreal Type	Premature graying of hair, Lipoatrophy, Alopecia of scalp, Reduced bone mineral density, Abnormal...	ORPHA:2617
Mucopolysaccharidosis Type 4	Abnormal metaphysis morphology, Grayish enamel, Genu valgum, Platyspondyly, Reduced bone mineral ...	ORPHA:582
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Hyperactivity, Self-injurious behavior, Aggressive behavior	OMIM:619031
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Scoliosis, Kyphosis, Flexion contracture, Joint hypermobility	OMIM:618323
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Hypophosphatemic rickets, Sclerotic vertebral endplates, Rickets of the lower l...	ORPHA:289176
Spermatogenic Failure 35	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f...	OMIM:618341
Vitamin D-Dependent Rickets, Type 2A	Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Tibial bowin...	OMIM:277440
Ck Syndrome	Abnormal cortical bone morphology, Scoliosis, Hyperlordosis, Kyphosis, Abnormal digit morphology,...	OMIM:300831
Autism Spectrum Disorder Due To Auts2 Deficiency	Abnormal foot morphology, Inguinal hernia, Joint contracture of the 5th finger, Highly arched eye...	ORPHA:352490
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o...	OMIM:241530
Ullrich Congenital Muscular Dystrophy	Pes valgus, Spinal rigidity, Scoliosis, Elbow flexion contracture, Kyphosis, Slender finger, Shor...	ORPHA:75840
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Irregular epiphyses, Hip osteoarthritis, Hypoplastic iliac wing, Scoliosis, Limitation of joint m...	OMIM:313400
Hartnup Disorder	Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia	OMIM:234500
Spermatogenic Failure 72	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre...	OMIM:619867
Spermatogenic Failure 34	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:618153
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Macular exudate, Reduced bone mineral density, Retinal neovascularization...	ORPHA:891
Spermatogenic Failure, X-Linked, 5	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:301099
Omodysplasia 1	Limited elbow extension, Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Limited ...	OMIM:258315
Uruguay Faciocardiomusculoskeletal Syndrome	Kyphoscoliosis, Pes cavus, Left atrial enlargement, Limited elbow movement, Scoliosis, Ventricula...	OMIM:300280
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Hyperactivity, Gait disturbance, Gait ataxia, Dysmetria	OMIM:618090
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Short long bone, Hyperlordosis,...	ORPHA:457395
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Short humerus, Spa...	OMIM:210710
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Tibial bowin...	OMIM:264700
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, U...	OMIM:616300
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, W...	OMIM:617925
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Talipes equinovarus, Scoliosis, Kyphosis, Obesity, Lumbar hyperlordosis, Hip dislocation	OMIM:616756
Hyperparathyroidism, Transient Neonatal	Osteopenia, Subperiosteal bone formation, Patent ductus arteriosus, Inguinal hernia, Femoral bowi...	OMIM:618188
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Pes cavus, Scoliosis, Kyphosis, Talipes equinovarus	OMIM:617087
Glycine Encephalopathy 1	Hyperactivity, Impulsivity, Restlessness, Hyperglycinemia, Aggressive behavior	OMIM:605899
Femoral-Facial Syndrome	Aplasia/hypoplasia of the femur, Limited elbow movement, Pulmonic stenosis, Short humerus, Syndac...	OMIM:134780
Frank-Ter Haar Syndrome	Beaking of vertebral bodies, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Ingu...	ORPHA:137834
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Rhizomelia, Platyspondyly, Small epiphyses, Ulnar bowing, Metaphyseal cu...	OMIM:602111
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Kniest Dysplasia	Tibial bowing, Dumbbell-shaped long bone, Hypoplastic pelvis, Dumbbell-shaped femur, Umbilical he...	OMIM:156550
Occipital Horn Syndrome	Large iliac wing, Absent tibia, Kyphosis, Aplasia/hypoplasia of the humerus, Joint hypermobility,...	ORPHA:198
Spermatogenic Failure 84	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620409
Achondroplasia	Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Kyphosis, Trident hand, Cerv...	ORPHA:15
Spermatogenic Failure 65	Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red...	OMIM:619712
Spermatogenic Failure 20	Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 37	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618429
Spermatogenic Failure 18	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:617576
Spermatogenic Failure 33	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618152
Spermatogenic Failure 46	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:619095
Spermatogenic Failure 27	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:617965
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Spinal rigidity, Scoliosis, Increased adipose tissue, Hyperlordosis, Kyphosis	OMIM:617404
Osteogenesis Imperfecta, Type Viii	Osteopenia, Inguinal hernia, Slender long bone, Femoral retroversion, Wide anterior fontanel, Sco...	OMIM:610915
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Scoliosis, Kyphosis, Obesity, Large hands, Tapered finger	ORPHA:276630
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Failure to thrive, Kyphosis, Hip dysplasia	OMIM:620007
Arthrogryposis, Distal, Type 4	Osteopenia, Equinovarus deformity, Tibial deviation of toes, Camptodactyly of 2nd-5th fingers, Sc...	OMIM:609128
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Kyphoscoliosis, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic ilia...	ORPHA:96334
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Scoliosis, Kyphosis, Bilateral talipes equinovarus, Flexion contracture of finger...	OMIM:618484
Catel-Manzke Syndrome	Short metacarpal, Ulnar deviation of the 2nd finger, Short humerus, Umbilical hernia, Joint hyper...	OMIM:616145
Bruck Syndrome	Scoliosis, Bowing of the long bones, Kyphosis, Osteoporosis, Joint stiffness, Platyspondyly, Arth...	ORPHA:2771
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity	OMIM:301008
Osteogenesis Imperfecta, Type Iii	Slender long bone, Wide anterior fontanel, Scoliosis, Tibial bowing, Kyphosis, Biconcave vertebra...	OMIM:259420
Mucopolysaccharidosis, Type Ivb	Hyperlordosis, Kyphosis, Aortic valve stenosis, Joint stiffness, Constricted iliac wing, Joint hy...	OMIM:253010
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Kyphosis, Osteoporosis, Platyspondyly, Albinism	ORPHA:2786
Spermatogenic Failure 56	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:619515
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o...	OMIM:300554
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Contractural Arachnodactyly, Congenital	Kyphoscoliosis, Wrist flexion contracture, Congenital finger flexion contractures, Limited knee e...	OMIM:121050
Mitochondrial Complex I Deficiency, Nuclear Type 11	Scoliosis, Osteoporosis, Hypertrophic cardiomyopathy, Kyphosis, Failure to thrive	OMIM:618234
Orofaciodigital Syndrome Vi	Fibular aplasia, Radial deviation of finger, 11 pairs of ribs, Tibial bowing, Postaxial hand poly...	OMIM:277170
Spermatogenic Failure 43	Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:617592
Spermatogenic Failure 82	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619094
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Carpal bone hypoplasia, Platyspondyly, Joint hypermobility, Dislocated ra...	OMIM:618395
Otospondylomegaepiphyseal Dysplasia	Sandal gap, Tibial bowing, Short metacarpal, Abnormally ossified vertebrae, Dumbbell-shaped femur...	ORPHA:1427
Schaaf-Yang Syndrome	Rocker bottom foot, Scoliosis, Tapered finger, Short foot, Camptodactyly, Kyphosis, Obesity, Thic...	OMIM:615547
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Secondary amenorrhea, Hyperlordosis, Kyphosis, Hypergonadotropic hypogonadism, Broad foot, Obesit...	ORPHA:3085
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Flexion contracture of toe, Scoliosis, Kyphosis, Finger joint contracture, Osteoporosis, Microgna...	ORPHA:48431
Carpenter Syndrome	Polydactyly, Kyphoscoliosis, Genu valgum, Patent ductus arteriosus, Craniosynostosis, Finger synd...	ORPHA:65759
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Short long bone, Femoral bowing, Hyperlordosis, Kyphosis, Metaphyseal irregularity, Joint hypermo...	OMIM:618019
Cdkl5-Deficiency Disorder	Scoliosis, Kyphosis, Synophrys, Broad proximal phalanges of the hand, Hallux valgus	ORPHA:505652
Spermatogenic Failure, X-Linked, 3	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla...	OMIM:301059
15Q24 Microdeletion Syndrome	Congenital diaphragmatic hernia, Abnormal thumb morphology, High anterior hairline, Proximal plac...	ORPHA:94065
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost...	OMIM:241520
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Kyphoscoliosis, Multiple carpal ossification centers, Generalized bone demineralization, Highly a...	OMIM:143095
Osteogenesis Imperfecta, Type Xiii	Kyphoscoliosis, Reduced bone mineral density, Limitation of knee mobility, Wide distal femoral me...	OMIM:614856
Spondyloepimetaphyseal Dysplasia, Shohat Type	Narrow greater sciatic notch, Vertebral compression fracture, Flared metaphysis, Delayed epiphyse...	OMIM:602557
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Abnormal hair morphology, Slow-gro...	ORPHA:3082
Masa Syndrome	Pes cavus, Hyperlordosis, Kyphosis, Adducted thumb, Talipes equinovarus	OMIM:303350
Robin Sequence With Cleft Mandible And Limb Anomalies	Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me...	OMIM:268305
Spermatogenic Failure 54	Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol...	OMIM:619379
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Highly arched eyebrow, Abnormal heart morphology, Joint hypermobility, Short ...	ORPHA:508488
Myofibrillar Myopathy 10	Ankle flexion contracture, Sandal gap, Elbow flexion contracture, Kyphosis, Left ventricular hype...	OMIM:619040
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper...	OMIM:620354
Mucopolysaccharidosis Type 6	Abnormal metaphysis morphology, Genu valgum, Abnormal heart valve morphology, Kyphosis, Epiphysea...	ORPHA:583
Difference Of Sex Development-Intellectual Disability Syndrome	Genu valgum, Reduced bone mineral density, Spina bifida occulta, Low posterior hairline, Synophry...	ORPHA:2983
Orofaciodigital Syndrome Iv	Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact...	OMIM:258860
Gollop-Wolfgang Complex	Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ...	ORPHA:1986
Intellectual Developmental Disorder, Autosomal Dominant 26	Clinodactyly of the 5th finger, Inguinal hernia, Highly arched eyebrow, Scoliosis, Kyphosis, Micr...	OMIM:615834
Thrombocytopenia-Absent Radius Syndrome	Fibular aplasia, Clinodactyly of the 5th finger, Fused cervical vertebrae, Aplasia/Hypoplasia of ...	ORPHA:3320
Orofaciodigital Syndrome Ix	Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly	OMIM:258865
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal bone ossification, Biconvex vertebral bodies, Reduced bone mineral density, Hypoplastic ...	ORPHA:93315
Spermatogenic Failure 40	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C...	OMIM:618664
Spermatogenic Failure 80	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse...	OMIM:620222
Spermatogenic Failure 76	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap...	OMIM:620084
Spermatogenic Failure 58	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo...	OMIM:619585
Thanatophoric Dysplasia	Abnormal metaphysis morphology, Abnormal ilium morphology, Patent ductus arteriosus, Abnormal sac...	ORPHA:2655
Mucolipidosis Iii Gamma	Genu valgum, Flat capital femoral epiphysis, Claw hand deformity, Shoulder contracture, Scoliosis...	OMIM:252605
Intellectual Disability-Developmental Delay-Contractures Syndrome	Clinodactyly of the 5th finger, Congenital foot contractures, Scoliosis, Limitation of joint mobi...	ORPHA:3454
Spermatogenic Failure 42	Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe...	OMIM:618745
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Delayed epiphyseal ossification, Enlargement of the ankles, Osteomalacia, Tibial bowing,...	ORPHA:289157
Spermatogenic Failure 39	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili...	OMIM:618643
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Athetosis, Ataxia, Self-injurious behavior, Aggressive behavior	ORPHA:382
Shox-Related Short Stature	Ulnar radial head dislocation, Genu valgum, Scoliosis, Tibial bowing, Forearm undergrowth, Microg...	ORPHA:314795
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Femur fracture, Sacral dimple, Spina bifida occulta, Scoliosis, Kyphosis, Arthrogryposis multiple...	OMIM:618291
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Pes cavus, Premature ovarian insufficiency, Scoliosis, Areflexia of lower limbs, Split hand, Kyph...	OMIM:618124
Atelosteogenesis, Type Iii	Widened distal phalanges, Tombstone-shaped proximal phalanges, Rhizomelia, Sandal gap, Hitchhiker...	OMIM:108721
Camurati-Engelmann Disease	Abnormal femur morphology, Cachexia, Hyperlordosis, Kyphosis, Hypogonadism, Craniofacial osteoscl...	ORPHA:1328
Spondylometaphyseal Dysplasia, Schmidt Type	Narrow greater sciatic notch, Short iliac bones, Abnormal metaphysis morphology, Genu valgum, Kyp...	ORPHA:93316
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Scoliosis, Dislocation of the femoral head, Kyphosis, Co...	OMIM:619797
Exudative Vitreoretinopathy 1	Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo...	OMIM:133780
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Hypoplastic iliac wing, Scoliosis, Kyphosis, Brachydactyly, Hip dysplasia, Short distal phalanx o...	ORPHA:1858
Marinesco-Sjogren Syndrome	Short metatarsal, Scoliosis, Short metacarpal, Kyphosis, Hypergonadotropic hypogonadism, Failure ...	OMIM:248800
Spermatogenic Failure, X-Linked, 6	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ...	OMIM:301101
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Inability to walk, Hyperactivity, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal ...	OMIM:618718
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Thick hair, Scoliosis, Kyphosis, Low posterior hairline, Synophrys, Thick eyebrow, Truncal obesity	ORPHA:2429
Becker Nevus Syndrome	Lipoatrophy, Abnormal tibia morphology, Spina bifida occulta, Scoliosis, Lower limb asymmetry, Mi...	ORPHA:64755
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Sacral dimple, Sandal gap, Scoliosis, Hyperlordosis, Lower limb a...	OMIM:615761
3M Syndrome	Rocker bottom foot, Hypoplasia of the ulna, Abnormal metaphysis morphology, Increased vertebral h...	ORPHA:2616
Spermatogenic Failure 47	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella	OMIM:619102
Hypophosphatemic Rickets, X-Linked Dominant	Enamel hypomineralization, Rickets, Genu valgum, Fibular bowing, Hypophosphatemic rickets, Cupped...	OMIM:307800
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Scoliosis, Kyphosis, Flexion contracture, Short neck, Arthrogryposis multiplex congenita, Clinoda...	ORPHA:178148
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Recurrent hand flapping, Unsteady gait, Self-mutilation, Aggressive behavior	OMIM:615516
Clark-Baraitser syndrome	Genu valgum, Genu recurvatum, Scoliosis, Kyphosis, Short palm, Obesity, Joint hypermobility, Tape...	OMIM:300602
Alpha-Mannosidosis	Inguinal hernia, Craniofacial hyperostosis, Arthritis, Scoliosis, Bowing of the long bones, Kypho...	ORPHA:61
Czech Dysplasia	Flat capital femoral epiphysis, Short metatarsal, Intervertebral space narrowing, Narrow iliac wi...	OMIM:609162
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Short femur, Short tibia, Talipes equinovarus	OMIM:620306
Pelger-Huet Anomaly	Polydactyly, Short 4th metacarpal, Pes cavus, Upper limb undergrowth, Kyphosis, Short 3rd metacar...	OMIM:169400
Spondyloepiphyseal Dysplasia, Maroteaux Type	Kyphoscoliosis, Genu valgum, Generalized osteoporosis, Short palm, Atlantoaxial instability, Shor...	OMIM:184095
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Joint stiffness, Arachnodactyly, Scoliosis, Kyphosis	ORPHA:1548
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short ribs, Short long bone, Dumbbell-shaped long bone, Hypoplastic...	OMIM:228520
Dent Disease 1	Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Tibial bowin...	OMIM:300009
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Scoliosis, Femoral bowing, Shor...	OMIM:613091
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Knee osteoarthritis, Bone cyst, Osteoporosis, Coxa vara, Camptodacty...	ORPHA:2848
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Shoulder dislocation, Scoliosis, Kyphosis, Arachnodactyly, Umbilical hernia, Joint hypermobility,...	ORPHA:2181
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Scoliosis, Membranous subvalvular aortic stenosis, Synostosis of carpal bones, K...	ORPHA:3191
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l...	OMIM:300106
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Platyspondyly, Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short ...	OMIM:263520
Brachyolmia Type 3	Radial deviation of finger, Scoliosis, Kyphosis, Short femoral neck, Platyspondyly, Short neck, P...	OMIM:113500
Sandhoff Disease	Failure to thrive, Kyphosis	ORPHA:796
Multicentric Osteolysis, Nodulosis, And Arthropathy	Kyphoscoliosis, Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contractu...	OMIM:259600
Fibrosis Of Extraocular Muscles, Congenital, 3C	Highly arched eyebrow, Kyphosis	OMIM:609384
Hypomelanosis Of Ito	Radial deviation of finger, Scoliosis, Kyphosis, Hand polydactyly, Syndactyly, Clinodactyly, Alop...	OMIM:300337
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Limitation of knee mobility, Delayed pubic bone ossification, Delayed cal...	OMIM:183900
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il...	OMIM:271640
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o...	OMIM:227270
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap...	OMIM:135750
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia, Hypoplasia of the radius, Hypoplasia of the ulna, Butterfly vert...	ORPHA:958
Ruvalcaba Syndrome	Clinodactyly of the 5th finger, Proximal placement of thumb, Inguinal hernia, Abnormal vertebral ...	ORPHA:3121
Spermatogenic Failure 79	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility	OMIM:620196
Spermatogenic Failure 7	Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility	OMIM:612997
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Broad distal phalanx of finger, Clinodactyly of the 5th finger, Talipes, Patent foramen ovale, Sh...	OMIM:300990
Spermatogenic Failure 11	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:614822
Spermatogenic Failure 41	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm	OMIM:618670
Gm1 Gangliosidosis	Abnormal form of the vertebral bodies, Hyperlordosis, Cardiomyopathy, Kyphosis, Joint stiffness, ...	ORPHA:354
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Kyphoscoliosis, Increased susceptibility to fractures, Osteopenia, Talipes equinovarus, Flared me...	OMIM:615349
Thanatophoric Dysplasia Type 2	Abnormal metaphysis morphology, Limitation of joint mobility, Kyphosis, Micromelia, Brachydactyly...	ORPHA:93274
X-Linked Intellectual Disability, Cabezas Type	Pes cavus, Clinodactyly of the 5th finger, Sandal gap, Inguinal hernia, Cachexia, Scoliosis, Kyph...	ORPHA:85293
Intellectual Developmental Disorder, Autosomal Dominant 53	Genu valgum, Short femur, Joint hypermobility, Frontal upsweep of hair, Ventricular septal defect	OMIM:617798
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Scoliosis, Kyphosis, Osteoporosis, Micrognathia, Jo...	OMIM:615381
Autosomal Recessive Spastic Paraplegia Type 53	Joint hypermobility, Failure to thrive, Kyphosis	ORPHA:319199
Sialidosis Type 2	Inguinal hernia, Kyphosis, Osteoporosis, Flexion contracture, Umbilical hernia, Pedal edema	ORPHA:87876
Rothmund-Thomson Syndrome Type 1	Sparse or absent eyelashes, Short metacarpal, Sparse hair, Hypogonadism, Plantar hyperkeratosis, ...	ORPHA:221008
Stickler Syndrome, Type I	Beaking of vertebral bodies, Abnormal femoral epiphysis morphology, Spondylolisthesis, Arthritis,...	OMIM:108300
Osteogenesis Imperfecta, Type Xi	Kyphoscoliosis, Osteopenia, Vertebral compression fracture, Vertebral wedging, Scoliosis, Coxa va...	OMIM:610968
Cono-Spondylar Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Scoliosis, Kyphosis, Epiphyseal dysplasia, Fa...	ORPHA:420794
Fountain Syndrome	Abnormal foot morphology, Abnormal metacarpal morphology, Spina bifida occulta, Abnormal form of ...	ORPHA:3219
Spermatogenic Failure 25	Male infertility, Spermatocyte maturation arrest, Cryptozoospermia, Non-obstructive azoospermia	OMIM:617960
Rothmund-Thomson Syndrome	Hypoplasia of the ulna, Osteopenia, Reduced bone mineral density, Metaphyseal striations, Abnorma...	ORPHA:2909
Gm1-Gangliosidosis, Type Iii	Pes cavus, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae, Scoliosis, Kyphosis, Fla...	OMIM:230650
Microphthalmia With Limb Anomalies	Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sacral dimpl...	OMIM:206920
X-Linked Charcot-Marie-Tooth Disease Type 1	Pes cavus, Scoliosis, Kyphosis	ORPHA:101075
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange...	ORPHA:2378
Wiedemann-Rautenstrauch Syndrome	Lipoatrophy, Kyphoscoliosis, Atlantoaxial abnormality, Pulmonic stenosis, Congenital malformation...	ORPHA:3455
Optic Atrophy 11	Optic atrophy, Hyperactivity, Optic nerve hypoplasia, Athetosis, Gait apraxia, Attention deficit ...	OMIM:617302
O'Donnell-Luria-Rodan Syndrome	Tapered finger, Kyphosis	OMIM:618512
4Q21 Microdeletion Syndrome	Scoliosis, Kyphosis, Micromelia, Synophrys, Short palm, Long eyelashes, Short neck, Generalized h...	ORPHA:238750
Baralle-Macken Syndrome	Hirsutism, Kyphosis, Obesity, Pes planus, Tapered finger	OMIM:619255
Ullrich Congenital Muscular Dystrophy 1A	Spinal rigidity, Distal joint hypermobility, Scoliosis, Increased laxity of ankles, Kyphosis, Fai...	OMIM:254090
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit...	OMIM:611102
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Decreased cervical spine flexion due to contractures of posterior cervical muscles, Spinal rigidi...	ORPHA:98855
Partial Chromosome Y Deletion	Male infertility, Abnormal spermatogenesis, Oligozoospermia, Non-obstructive azoospermia	ORPHA:1646
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Large for gestational age, Sacral dimple, Inguinal hernia, Wide anterior fontanel, Kyphosis, Micr...	OMIM:618272
Mucopolysaccharidosis, Type Vii	Narrow greater sciatic notch, Large iliac wing, Cardiomyopathy, Kyphosis, Proximal tapering of me...	OMIM:253220
Hurler Syndrome	Calvarial hyperostosis, Cardiomyopathy, Flared iliac wing, Kyphosis, Biconcave vertebral bodies, ...	OMIM:607014
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Prominent protruding coccyx, Facial hirsutism, Aplasia/Hypoplasi...	ORPHA:2839
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Pes cavus, Sandal gap, Kyphosis, Brachydactyly, Hypogonadism, Joint hypermobility, Abdominal obes...	OMIM:300354
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Inability to walk, Hyperactivity, Impulsivity, Gait ataxia, Dysphagia, Aggressive behavior	ORPHA:500180
Florid Cemento-Osseous Dysplasia	Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Abnor...	ORPHA:83451
Orofaciodigital Syndrome Type 2	Finger clinodactyly, Atrioventricular canal defect, Thick hair, Cone-shaped epiphyses of the phal...	ORPHA:2751
Osteogenesis Imperfecta, Type Iv	Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Scoliosis...	OMIM:166220
Pycnodysostosis	Spondylolysis, Spondylolisthesis, Hypoplastic iliac wing, Hyperlordosis, Kyphosis, Acromelia, Mes...	ORPHA:763
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Omodysplasia 2	Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Dislocated r...	OMIM:164745
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Highly arched eyebrow, Scoliosis, Short metacarpal, Kyphosis, Sy...	OMIM:617190
Rothmund-Thomson Syndrome Type 2	Aplasia/hypoplasia involving bones of the upper limbs, Sparse or absent eyelashes, Short metacarp...	ORPHA:221016
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shuffling gait, Aggres...	ORPHA:3077
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Bowing of the long bones, Kyphosis, Lateral femoral b...	OMIM:239000
Wiedemann-Rautenstrauch Syndrome	Lipoatrophy, Short humerus, Long toe, Clinodactyly, Genu varum, Alopecia of scalp, Long foot, Abs...	OMIM:264090
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Polydactyly, Patent foramen ovale, Hypertrophic cardiomyopathy, Failure to thrive, Short humerus,...	ORPHA:17
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Spondylolisthesis, Inguinal hernia, Scoliosis, Short long bone, Short rib...	OMIM:252600
Geroderma Osteodysplasticum	Kyphoscoliosis, Beaking of vertebral bodies, Osteopenia, Vertebral compression fracture, Abnormal...	OMIM:231070
2Q31.1 Microdeletion Syndrome	Sandal gap, Kyphosis, Abnormal fibula morphology, Abnormal tibia morphology, Abnormal metacarpal ...	ORPHA:251014
Lopes-Maciel-Rodan Syndrome	Scoliosis, Kyphosis, Ankle clonus, Short foot, Small hand	OMIM:617435
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Inability to walk, Hyperactivity, Self-injurious behavior, Choreoathetosis, Aggressive behavior	OMIM:620023
19P13.12 Microdeletion Syndrome	Deep plantar creases, Clinodactyly of the 5th finger, Sandal gap, Craniosynostosis, Finger syndac...	ORPHA:254346
Mitochondrial Myopathy And Sideroblastic Anemia	Scoliosis, Micrognathia, Kyphosis, Distichiasis	ORPHA:2598
Spermatogenic Failure 86	Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru...	OMIM:620499
X-Linked Emery-Dreifuss Muscular Dystrophy	Decreased cervical spine flexion due to contractures of posterior cervical muscles, Spinal rigidi...	ORPHA:98863
Arthrogryposis, Distal, Type 5	Scoliosis, Absent phalangeal crease, Recurrent patellar dislocation, Congenital finger flexion co...	OMIM:108145
Hajdu-Cheney Syndrome	Partial absence of toe, Decreased skull ossification, Kyphosis, Biconcave vertebral bodies, Aorti...	ORPHA:955
Emery-Dreifuss Muscular Dystrophy	Decreased cervical spine flexion due to contractures of posterior cervical muscles, Spinal rigidi...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Decreased cervical spine flexion due to contractures of posterior cervical muscles, Spinal rigidi...	ORPHA:98853
Spermatogenic Failure 48	Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia	OMIM:619108
X-Linked Charcot-Marie-Tooth Disease Type 4	Pes cavus, Scoliosis, Kyphosis	ORPHA:101078
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Campomelic Dysplasia	Fibular hypoplasia, 11 pairs of ribs, Poorly ossified cervical vertebrae, Tracheomalacia, Tracheo...	ORPHA:140
Weaver Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Short ribs, Prominent fingertip pads, Limited...	OMIM:277590
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone...	ORPHA:3035
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Joint contracture of the 5th finger, Brittle hair, Scoliosis, Kyphosis, Camptodactyly of finger, ...	ORPHA:1883
Campomelic Dysplasia	Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Trac...	OMIM:114290
Poland Syndrome	Congenital diaphragmatic hernia, Reduced bone mineral density, Short ribs, Low posterior hairline...	ORPHA:2911
Spermatogenic Failure 30	Male infertility, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia	OMIM:618110
3C Syndrome	Atrioventricular canal defect, Abnormal tricuspid valve morphology, Abnormal hip bone morphology,...	ORPHA:7
Dysostosis, Stanescu Type	Abnormal metaphysis morphology, Increased bone mineral density, Abnormal dental enamel morphology...	ORPHA:1798
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Rocker bottom foot, Sandal gap, Highly arched eyebrow, Bicoronal synostosis, 2-3 toe syndactyly, ...	OMIM:619951
Brachydactyly, Type A1, C	Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge...	OMIM:615072
Spondylometaphyseal Dysplasia, Algerian Type	Short tubular bones of the hand, Kyphoscoliosis, Carpal bone hypoplasia, Flared femoral metaphysi...	OMIM:184253
Spermatogenic Failure 70	Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia	OMIM:619828
Frank-Ter Haar Syndrome	Kyphoscoliosis, Short long bone, Kyphosis, Mitral valve prolapse, Patent foramen ovale, Camptodac...	OMIM:249420
Mcdonough Syndrome	Cachexia, Scoliosis, Kyphosis, Synophrys, Micrognathia	ORPHA:2471
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Classical-Like Ehlers-Danlos Syndrome Type 2	Kyphoscoliosis, Sandal gap, Kyphosis, Arachnodactyly, Equinus calcaneus, Abnormal toe morphology,...	ORPHA:536532
Autosomal Recessive Spondylocostal Dysostosis	Congenital diaphragmatic hernia, Abnormal intervertebral disk morphology, Inguinal hernia, Spina ...	ORPHA:2311
Cartilage-Hair Hypoplasia	Abnormal bone ossification, Biconvex vertebral bodies, Abnormal hip bone morphology, Abnormal for...	ORPHA:175
Flynn-Aird Syndrome	Bone cyst, Scoliosis, Cachexia, Kyphosis, Joint stiffness, Alopecia	ORPHA:2047
Cole-Carpenter Syndrome	Abnormal metaphysis morphology, Crumpled long bones, Abnormal form of the vertebral bodies, Abnor...	ORPHA:2050
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Abnormal dental enamel mor...	ORPHA:2916
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Kyphoscoliosis, Delayed ossification of carpal bones, Biconcave vertebral bodies, Mesomelia, Meta...	OMIM:271510
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ...	OMIM:119100
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, Kyph...	ORPHA:508533
Otopalatodigital Syndrome Type 2	Flared iliac wing, Hypoplastic frontal sinuses, Abnormal cardiac septum morphology, Fibular aplas...	ORPHA:90652
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Kyphosis, Multiple lipomas, Lipodystrophy, Talipes equinovarus	OMIM:151800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Calf muscle hypertrophy, Hyperlordosis, Scoliosis, Kyphosis, Achilles tendon contracture, Thigh h...	OMIM:606612
Melnick-Needles Syndrome	Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Short humerus,...	OMIM:309350
Distal Triplication 15Q	Large for gestational age, Scoliosis, Camptodactyly, Kyphosis, Arachnodactyly, Micrognathia, Abno...	ORPHA:314588
Crisponi Syndrome	Scoliosis, Limitation of joint mobility, Kyphosis, Camptodactyly of finger, Micrognathia, Flexion...	ORPHA:1545
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Calf muscle hypertrophy, Hyperlordosis, Scoliosis, Kyphosis, Achilles tendon contracture, Thigh h...	OMIM:607155
Myopathy, Centronuclear, 2	Pes cavus, Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Talipes equinovarus	OMIM:255200
Marfanoid Habitus With Situs Inversus	Situs inversus totalis, Genu recurvatum, Hyperextensibility of the finger joints, Scoliosis, Kyph...	OMIM:609008
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Stillbirth, Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot p...	OMIM:119800
Hemifacial Atrophy, Progressive	Short mandibular rami, Kyphosis, Patchy alopecia, Poliosis	OMIM:141300
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Clinodactyly of the 5th finger, Sandal gap, 2-3 toe syndactyly, Hirsutism, ...	OMIM:617061
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Trisomy 20P	Reduced bone mineral density, Abnormal hip bone morphology, Abnormal form of the vertebral bodies...	ORPHA:261318
Eiken Syndrome	Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a...	OMIM:600002
Acrorenal-Mandibular Syndrome	Congenital diaphragmatic hernia, Hypoplasia of the radius, Hypoplasia of the ulna, Kyphoscoliosis...	OMIM:200980
Hajdu-Cheney Syndrome	Kyphoscoliosis, Dislocated radial head, Biconcave vertebral bodies, Crowded carpal bones, Umbilic...	OMIM:102500
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac...	OMIM:620141
Typical Nemaline Myopathy	Spinal rigidity, Genu valgum, Scoliosis, Hyperlordosis, Kyphosis, Micrognathia, Flexion contractu...	ORPHA:171436
Spastic Paraplegia 46, Autosomal Recessive	Pes cavus, Scoliosis, Infertility, Kyphosis, Ankle clonus	OMIM:614409
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Scoliosis, Kyphosis, Hypertrichosis, Synophrys	ORPHA:85317
Emanuel Syndrome	Congenital diaphragmatic hernia, Sacral dimple, Inguinal hernia, Scoliosis, Truncus arteriosus, K...	OMIM:609029
Congenital Disorder Of Glycosylation, Type Il	Kyphosis, Pericardial effusion, Failure to thrive, Lipodystrophy, Short neck, Atrial septal defec...	OMIM:608776
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Joint hypermobility, Hypogonadism, Kyphosis	ORPHA:1875
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Inguinal hernia, Abnormal heart valve morphology, Scoliosis, Kyphosi...	OMIM:230500
Saul-Wilson Syndrome	Platyspondyly, Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of t...	OMIM:618150
Alg1-Cdg	Scoliosis, Cardiomyopathy, Limitation of joint mobility, Kyphosis, Abnormal heart morphology	ORPHA:79327
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d...	OMIM:166740
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morphology, Alopecia, S...	ORPHA:1005
Acromesomelic Dysplasia 2B	Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ...	OMIM:228900
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Osteopenia, Pathologic fracture, Vertebral compression fracture, Scoliosis, Tibia...	OMIM:259770
Acrofacial Dysostosis, Rodríguez Type	Fibular hypoplasia, Abnormal form of the vertebral bodies, Finger syndactyly, Abnormal pelvic gir...	ORPHA:1788
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Sclerotic vertebral body, Diaphyseal sclerosis, Kyphosis, Long eyelashes, Metaphys...	OMIM:618476
Wieacker-Wolff Syndrome, Female-Restricted	Rocker bottom foot, Radial deviation of the hand, Scoliosis, Limited shoulder movement, Kyphosis,...	OMIM:301041
Spermatogenic Failure 81	Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility	OMIM:620277
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Pes valgus, Genu valgum, Clinodactyly of the 5th finger, Scoliosis, Hyperlordosis, Kyphosis, Syno...	OMIM:618443
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/...	ORPHA:988
Marshall-Smith Syndrome	Short mandibular rami, Kyphoscoliosis, Highly arched eyebrow, Prominent fingertip pads, Kyphosis,...	OMIM:602535
Wieacker-Wolff Syndrome	High anterior hairline, Proximal placement of thumb, Congenital foot contractures, Scoliosis, Hyp...	OMIM:314580
Schwartz-Jampel Syndrome	Spinal rigidity, Flexion contracture of toe, Cachexia, Hyperlordosis, Wrist flexion contracture, ...	ORPHA:800
Cole-Carpenter Syndrome 2	Osteopenia, Lambdoidal craniosynostosis, Narrow iliac wing, Kyphosis, Coronal craniosynostosis, D...	OMIM:616294
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hyperextensibility of the finger joints, Atrophic scars, Hyperlordosis, Scoliosis, Kyphosis, Join...	OMIM:617821
Cohen Syndrome	Abnormal hip bone morphology, Sandal gap, Kyphosis, Arachnodactyly, Mitral valve prolapse, Joint ...	ORPHA:193
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Short finger, Rhizomelia, Flared metaphysis, Metaphyseal cupping, S...	OMIM:608940
Scapuloperoneal Spinal Muscular Atrophy	Peroneal muscle weakness, Scoliosis, Hyperlordosis, Kyphosis, Metatarsus adductus, Peroneal muscl...	OMIM:181405
Zimmermann-Laband Syndrome 2	Hirsutism, Kyphosis, Synophrys, Long eyelashes, Thick eyebrow, Short neck, Hypertrichosis, Widow'...	OMIM:616455
Sjögren-Larsson Syndrome	Joint stiffness, Abnormal dental enamel morphology, Scoliosis, Kyphosis	ORPHA:816
Congenital Myopathy 22A, Classic	Spinal rigidity, Talipes, Scoliosis, Congenital finger flexion contractures, Synophrys, Kyphosis,...	OMIM:620351
Lateral Meningocele Syndrome	Patent ductus arteriosus, Inguinal hernia, Joint hypermobility, Scoliosis, Kyphosis, Biconcave ve...	OMIM:130720
Coffin-Lowry Syndrome	Broad finger, Abnormal aortic valve morphology, Abnormal diaphysis morphology, Abnormal tricuspid...	ORPHA:192
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Broad distal phalanx of finger, Highly arched eyebrow, 2-3 toe syndactyly, Scoliosis, Lower limb ...	ORPHA:404440
Marden-Walker Syndrome	Dextrocardia, Inguinal hernia, Wide anterior fontanel, Scoliosis, Camptodactyly, Congenital contr...	OMIM:248700
Kleefstra Syndrome 2	Scoliosis, Thick eyebrow, Kyphosis	OMIM:617768
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Hypopigmentation of hair, Scoliosis, Infertility, Increased body weight, Kyphosis, Os...	ORPHA:398069
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Scoliosis, Kyphosis, Structural foot deformity, Obesity, Hip dislocation	ORPHA:464282
Idiopathic Juvenile Osteoporosis	Kyphosis, Osteoporosis, Recurrent fractures, Vertebral compression fracture	ORPHA:85193
Trisomy 13	Abnormal eyelash morphology, Scoliosis, Postaxial hand polydactyly, Abnormal pelvic girdle bone m...	ORPHA:3378
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra...	ORPHA:85170
Cleidocranial Dysplasia 1	Spondylolysis, Delayed pubic bone ossification, Spondylolisthesis, Cone-shaped epiphyses of the p...	OMIM:119600
Familial Osteodysplasia, Anderson Type	Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, Abnormal cortical bone morpholog...	ORPHA:2769
Multiple Pterygium Syndrome, Escobar Variant	Congenital diaphragmatic hernia, Rocker bottom foot, Dislocated radial head, Kyphosis, Arachnodac...	OMIM:265000
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Scoliosis, Long foot, Kyphosis, Slender build	OMIM:300676
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Breast hypoplasia, Alopecia of scalp, Triphalangeal thumb, Infertility, Impotence, Ky...	ORPHA:2232
Spastic Paraplegia 53, Autosomal Recessive	Joint hypermobility, Kyphosis, Hypertrichosis	OMIM:614898
Koolen-De Vries Syndrome	Sacral dimple, Spondylolisthesis, Joint hypermobility, Abnormality of hair texture, Prominent fin...	OMIM:610443
Mitochondrial Dna Depletion Syndrome 11	Spinal rigidity, Kyphosis, Hypergonadotropic hypogonadism, Dilated cardiomyopathy, Neuropathic sp...	OMIM:615084
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Kyphoscoliosis, Spondylolysis, Short ribs, Femoral bowing, Tibial bowing, Sho...	OMIM:304120
Ciliary Dyskinesia, Primary, 51	Short sperm flagella, Situs inversus totalis, Male infertility, Oligozoospermia, Reduced sperm mo...	OMIM:620438
Osteogenesis Imperfecta, Type Xvii	Kyphoscoliosis, Reduced bone mineral density, Thin metacarpal cortices, Vertebral compression fra...	OMIM:616507
Pontocerebellar Hypoplasia, Type 17	Kyphosis, Secundum atrial septal defect, Low anterior hairline, Microretrognathia, Patent ductus ...	OMIM:619909
Prader-Willi Syndrome	Radial deviation of finger, Kyphosis, Syndactyly, Clinodactyly, Scoliosis, Osteoporosis, Short pa...	OMIM:176270
Lateral Meningocele Syndrome	Inguinal hernia, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Scoliosis, Hyp...	ORPHA:2789
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Knee flexion contracture, Kyphosis, Postaxial polydactyly, Thoracic scoliosis, Atrial septal defe...	OMIM:603387
Osteogenesis Imperfecta	Abnormal femur morphology, Reduced bone mineral density, Abnormal hip bone morphology, Abnormal f...	ORPHA:666
Caffey Disease	Subperiosteal bone formation, Calvarial hyperostosis, Tibial bowing, Periosteal thickening of lon...	OMIM:114000
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly	OMIM:228250
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Fused cervical vertebrae, Abnormal hip bone morphology, Hyperlordosis, Kyphosis, Micrognathia, Sh...	ORPHA:2522
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones...	ORPHA:2634
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Arachnodactyly, Paranasal sinus hypoplasia, Craniofacial osteoscleros...	OMIM:300373
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Rhizomelia, Irregular menstruation, Wide anterior fontanel, Tibial bowing, Femoral bowing, Kyphos...	OMIM:616482
Mucolipidosis Type Ii	Cardiomyopathy, Kyphosis, Abnormal mitral valve morphology, Umbilical hernia, Left ventricular hy...	ORPHA:576
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu...	OMIM:274000
Fliedner-Zweier Syndrome	Joint hypermobility, Scoliosis, Kyphosis, Obesity, Bicuspid aortic valve, Pes planus, Hallux valg...	OMIM:620511
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Scoliosis, Hirsutism, Kyphosis, Synophrys	OMIM:300861
Spinocerebellar Ataxia, Autosomal Recessive 8	Pes cavus, Scoliosis, Kyphosis	OMIM:610743
Congenital Heart Defects And Skeletal Malformations Syndrome	Congenital diaphragmatic hernia, Atrial septal defect, Medial flaring of the eyebrow, Clinodactyl...	OMIM:617602
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Clinodactyly of the 5th finger, 2-3 toe syndactyly, Scoliosis, Tapered finger, Kyphosis, Synophry...	ORPHA:476126
Fucosidosis	Lipoatrophy, Anterior beaking of lumbar vertebrae, Kyphosis, Failure to thrive, Cardiomegaly	ORPHA:349
Cousin Syndrome	Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, An...	OMIM:260660
Fibular Dimelia-Diplopodia Syndrome	Sacrococcygeal teratoma, Absent tibia	ORPHA:1757
X-Linked Charcot-Marie-Tooth Disease Type 5	Pes cavus, Scoliosis, Kyphosis	ORPHA:99014
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Calf muscle hypertrophy, Elbow flexion contracture, Kyphosis	OMIM:618138
Mgat2-Cdg	Osteopenia, Scoliosis, Hirsutism, Hypoplastic nipples, Kyphosis, Long eyelashes, Failure to thriv...	ORPHA:79329
X-Linked Creatine Transporter Deficiency	Hyperactivity, Athetosis, Ataxia, Joint hypermobility, Abnormal circulating creatine concentratio...	ORPHA:52503
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lipoatrophy, Generalized lipodystrophy, Hyperextensibility of the finger joints, Kyphosis, Reduce...	OMIM:616914
Seckel Syndrome 1	Talipes, 11 pairs of ribs, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Disloc...	OMIM:210600
Harrod Syndrome	Abnormal shoulder morphology, Scoliosis, Abnormal pelvic girdle bone morphology, Kyphosis, Arachn...	ORPHA:2115
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Spinal rigidity, Kyphosis, Hypergonadotropic hypogonadism, Dilated cardiomyopathy, Neuropathic sp...	ORPHA:352447
Acromelic Frontonasal Dysostosis	Patellar hypoplasia, Talipes equinovarus, Midline central nervous system lipomas, Mesomelic leg s...	OMIM:603671
Ophthalmomandibulomelic Dysplasia	Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad...	OMIM:164900
Robinow Syndrome, Autosomal Dominant 3	Kyphosis, Sacral dimple, Scoliosis, Patent foramen ovale, Camptodactyly, Omphalocele, Broad thumb...	OMIM:616894
Atypical Rett Syndrome	Scoliosis, Short foot, Kyphosis, Small hand	ORPHA:3095
Wolf-Hirschhorn Syndrome	Congenital diaphragmatic hernia, Hypoplastic pubic ramus, Abnormal form of the vertebral bodies, ...	ORPHA:280
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Pes cavus, Scoliosis, Kyphosis, Absent Achilles reflex, Flexion contracture, Ankle clonus	OMIM:609541
Dent Disease	Rickets, Delayed epiphyseal ossification, Enlargement of the ankles, Abnormality of the lower lim...	ORPHA:1652
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Scoliosis, Kyphosis, Failure to thrive, Flexion contracture, Hypogonadism, Hip dysplasia, Overwei...	ORPHA:500055
Lenz-Majewski Hyperostotic Dwarfism	Abnormal finger morphology, Kyphosis, Symphalangism affecting the phalanges of the hand, Hypogona...	ORPHA:2658
Developmental Malformations-Deafness-Dystonia Syndrome	Femoral retroversion, Scoliosis, Kyphosis, Micromelia, Hypoplastic scapulae	ORPHA:79107
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Scoliosis, Postaxial hand polydactyly, Kyphosis, Micrognathia, B...	ORPHA:2075
Thalidomide Embryopathy	Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han...	ORPHA:3312
Jaberi-Elahi Syndrome	Brittle hair, Scoliosis, Kyphosis, Sparse eyelashes, Joint stiffness, Sparse eyebrow, Hand clench...	OMIM:617988
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Scoliosis, Kyphosis, Micrognathia, Metatarsus valgus, Joint hypermobility, Tapered fi...	ORPHA:2479
Koolen-De Vries Syndrome	Hypopigmentation of hair, Abnormal cardiac septum morphology, Abnormal dental enamel morphology, ...	ORPHA:96169
Ciliary Dyskinesia, Primary, 50	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:620356
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Fibular hypoplasia, Pseudoarthrosis	OMIM:607278
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Aplasia/hypoplasia of the femur, Broad distal phalanx of finger, Abnormal form of the vertebral b...	ORPHA:2636
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Clinodactyly of the 5th finger, Kyphosis, Camptodactyly, Pulmonic ...	OMIM:619123
Autosomal Recessive Robinow Syndrome	Abnormal hip bone morphology, Sandal gap, Kyphosis, Broad thumb, Mesomelia, Umbilical hernia, Sho...	ORPHA:1507
Schneckenbecken Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Abnormal form of ...	ORPHA:3144
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Hip subluxation, Bilateral camptodactyly, Scoliosis, Prominent fingertip pads, Kyphosis, Short fo...	OMIM:619557
Chromosome 3Q13.31 Deletion Syndrome	Proximal placement of thumb, Kyphosis	OMIM:615433
Progressive Non-Infectious Anterior Vertebral Fusion	Spinal rigidity, Abnormal intervertebral disk morphology, Abnormality of the vertebral column, Pr...	ORPHA:2062
Pituitary Adenoma 4, Acth-Secreting	Vertebral compression fracture, Hirsutism, Kyphosis, Osteoporosis, Biconcave vertebral bodies, Ol...	OMIM:219090
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Micrognathia, Kyphosis	ORPHA:77300
Hurler-Scheie Syndrome	Inguinal hernia, Scoliosis, Hirsutism, Kyphosis, Umbilical hernia, Camptodactyly of finger, Micro...	OMIM:607015
Distal 16P11.2 Microdeletion Syndrome	Arachnodactyly, Obesity, Low anterior hairline, Kyphosis	ORPHA:261222
Hydrolethalus Syndrome 1	Stillbirth, Upper limb undergrowth, Postaxial hand polydactyly, Omphalocele, Duplication of phala...	OMIM:236680
2P15P16.1 Microdeletion Syndrome	Inguinal hernia, Sandal gap, Scoliosis, Kyphosis, Long eyelashes, Metatarsus adductus, Camptodact...	ORPHA:261349
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Abnormal form of the vertebral bodies, Bone cyst, Narrow iliac wing, Scoliosis, Calcification of ...	ORPHA:3042
Mucopolysaccharidosis, Type Ii	Pes cavus, Inguinal hernia, Abnormal heart valve morphology, Tracheobronchomalacia, Split hand, K...	OMIM:309900
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Inguinal hernia, Scoliosis, Kyphosis, Atrial septal defect, Ventricular septal defect	ORPHA:261190
Noonan Syndrome 14	Limited elbow extension, Low posterior hairline, Curly hair, Kyphosis, Pulmonic stenosis, Sparse ...	OMIM:619745
Aromatase Deficiency	Osteopenia, Male infertility, Genu valgum, Delayed epiphyseal ossification, Osteoporosis, Hypergo...	ORPHA:91
Basel-Vanagaite-Smirin-Yosef Syndrome	Pes cavus, Overlapping fingers, Atrial septal defect, Inguinal hernia, Finger syndactyly, Broad d...	ORPHA:464738
Spermatogenic Failure 38	Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp...	OMIM:618433
Mosaic Trisomy 20	Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Kyphosis, Spinal canal stenos...	ORPHA:1724
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Genu valgum, Scoliosis, Elbow flexion contracture, Kyphosis, Hip contracture, Obesity, Finger joi...	OMIM:618493
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Perimembranous ventricular septal defect, Radial deviation of finger, Talipes equ...	OMIM:301040
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Cachexia, Scoliosis, Kyphosis, Abnormal mitral valve morphology, Genu varum	ORPHA:1969
Alkaptonuria	Limitation of knee mobility, Intervertebral disk degeneration, Arthritis, Kyphosis, Thickened Ach...	OMIM:203500
Trisomy 9P	Sacral dimple, Clinodactyly of the 5th finger, Scoliosis, Kyphosis, Brachydactyly, Short neck	ORPHA:236
Marden-Walker Syndrome	Situs inversus totalis, Abnormal anatomic location of the heart, Talipes, Dextrocardia, Abnormal ...	ORPHA:2461
Rett Syndrome	Cachexia, Scoliosis, Short foot, Kyphosis	OMIM:312750
Multiple Pterygium-Malignant Hyperthermia Syndrome	Inguinal hernia, Finger syndactyly, Scoliosis, Kyphosis, Hemiatrophy, Metatarsus adductus, Campto...	ORPHA:2215
Occipital Horn Syndrome	Limited elbow extension, Coarse hair, Genu valgum, Short clavicles, Limited knee extension, Kypho...	OMIM:304150
Kinsship Syndrome	Polydactyly, Osteopenia, Fibular hypoplasia, Sacral dimple, Dislocated radial head, Scoliosis, Sy...	OMIM:619297
Plaa-Associated Neurodevelopmental Disorder	Rocker bottom foot, Hyperextensibility of the finger joints, Hirsutism, Postaxial hand polydactyl...	ORPHA:521426
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Hypomagnesemia, Self-biting, Hypokalemia	OMIM:618314
Congenital Disorder Of Glycosylation, Type Ia	Abnormal subcutaneous fat tissue distribution, Osteopenia, Premature ovarian insufficiency, Cardi...	OMIM:212065
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Scoliosis, Ventricular septal defect, Short foot, Kyphosis, Aortic val...	ORPHA:464311
Pelizaeus-Merzbacher Disease	Cachexia, Scoliosis, Kyphosis, Joint stiffness, Failure to thrive in infancy	ORPHA:702
Intellectual Developmental Disorder, Autosomal Dominant 57	Contracture of the proximal interphalangeal joint of the 4th finger, Joint hypermobility, Scolios...	OMIM:618050
Dyrk1A-Related Intellectual Disability Syndrome	Polydactyly, Breast hypoplasia, Clinodactyly of the 5th finger, Acromesomelia, Scoliosis, Ventric...	ORPHA:464306
X-Linked Intellectual Disability Due To Gria3 Mutations	Genu recurvatum, Scoliosis, Kyphosis, Slender build, Joint hypermobility, Pes planus	ORPHA:364028
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short femur, Short humerus, Thick eyebrow, Tapered finger	OMIM:618367
Sialidosis Type 1	Scoliosis, Hernia, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:812
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, 2-3 toe syndactyly, Scoliosis, Kyphosis, Sparse hair, Atrial septal defect, Vent...	OMIM:616449
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Contracture of the proximal interphalangeal joint of the 4th finger, Scoliosis, Hemivertebrae, Ky...	OMIM:618223
Stickler Syndrome	Reduced bone mineral density, Spondylolisthesis, Abnormal form of the vertebral bodies, Cachexia,...	ORPHA:828
Mesomelia-Synostoses Syndrome	Narrow foot, Carpometacarpal synostosis, Abnormal vertebral morphology, Short metatarsal, Metacar...	OMIM:600383
Dystonia 1, Torsion, Autosomal Dominant	Scoliosis, Hyperlordosis, Kyphosis, Absent Achilles reflex, Multiple joint contractures	OMIM:128100
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Truncal obesity, Osteoporosis, Kyphosis	OMIM:219080
Acromelic Frontonasal Dysplasia	Patellar hypoplasia, Midline central nervous system lipomas, Aplasia/Hypoplasia of the tibia, Pre...	ORPHA:1827
Primary Ciliary Dyskinesia	Situs inversus totalis, Male infertility, Transposition of the great arteries, Abnormal atrial ar...	ORPHA:244
Srd5A3-Cdg	Palmoplantar keratoderma, Kyphosis, Hypertrichosis, Abnormal sacrum morphology	ORPHA:324737
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Truncal obesity, Osteoporosis, Kyphosis	OMIM:610475
Charge Syndrome	Absent tibia, Pulmonic stenosis, Dysplastic tricuspid valve, Bifid femur, Umbilical hernia, Absen...	OMIM:214800
Cockayne Syndrome Type 2	Scarring, Scoliosis, Kyphosis, Enamel hypoplasia, Flexion contracture, Male hypogonadism	ORPHA:90322
Myasthenic Syndrome, Congenital, 20, Presynaptic	Scoliosis, Pes planus, Arthrogryposis multiplex congenita, Kyphosis	OMIM:617143
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Kyphoscoliosis, Atrial septal defect, Joint hypermobility, Scoliosis, Patent foramen ovale, Ventr...	OMIM:300967
Turner Syndrome Due To Structural X Chromosome Anomalies	Reduced bone mineral density, Low posterior hairline, Kyphosis, Abnormal forearm bone morphology,...	ORPHA:99413
Turner Syndrome	Reduced bone mineral density, Low posterior hairline, Kyphosis, Abnormal forearm bone morphology,...	ORPHA:881
Mosaic Monosomy X	Reduced bone mineral density, Low posterior hairline, Kyphosis, Abnormal forearm bone morphology,...	ORPHA:99228
Monosomy X	Reduced bone mineral density, Low posterior hairline, Kyphosis, Abnormal forearm bone morphology,...	ORPHA:99226
Cdags Syndrome	Lambdoidal craniosynostosis, Short clavicles, Short ribs, Sparse scalp hair, Kyphosis, Sparse eye...	OMIM:603116
16Q24.3 Microdeletion Syndrome	Proximal placement of thumb, Highly arched eyebrow, Scoliosis, Kyphosis, Micrognathia, Abnormal h...	ORPHA:261250
Acheiropodia	Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,...	ORPHA:931
Wrinkly Skin Syndrome	Osteopenia, Deep plantar creases, Muscular ventricular septal defect, Inguinal hernia, Slender lo...	OMIM:278250
Phocomelia, Schinzel Type	Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph...	ORPHA:2879
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Hirsutism, Kyphosis, Postaxial polydactyly, Failure to thrive, Long fingers, ...	OMIM:617527
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Secondary amenorrhea, Osteoporosis, Kyphosis, Truncal obesity	OMIM:610489
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res...	OMIM:301106
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Sacral dimple, Prominent protruding coccyx, Joint hypermobility, Prominent coccyx, Sc...	OMIM:300966
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Transient hyperphenylalaninemia, Hyperactivity, Hyperphenylalaninemia, Abnormal circulating neopt...	OMIM:612716
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Scoliosis, Kyphosis, Camptodactyly, Flexion contracture of finger, Osteomyelitis	ORPHA:88628
Spermatogenic Failure 85	Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi...	OMIM:620490
Cranioectodermal Dysplasia 1	Radial deviation of finger, Short ribs, Short humerus, Sparse hair, Bicuspid aortic valve, Short ...	OMIM:218330
Mend Syndrome	Sacral dimple, Wide anterior fontanel, 2-3 toe syndactyly, Kyphosis, Aortic valve stenosis, Failu...	ORPHA:401973
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Genu valgum, Scoliosis, Sparse scalp hair, Kyphosis, Osteoporosis, Joint stiffness, Arachnodactyl...	ORPHA:394
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Osteopetrosis, Abnormal trabecular bone morphology	OMIM:612301
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Male infertility, Dextrocardia	OMIM:618948
Tibial Hemimelia	Absent tibia	OMIM:275220
Multiple Endocrine Neoplasia, Type Iib	Pes cavus, Scoliosis, Hyperlordosis, Kyphosis, Thick eyebrow, Joint hypermobility, Failure to thr...	OMIM:162300
Microphthalmia, Lenz Type	Abnormal shoulder morphology, Clinodactyly of the 5th finger, Finger syndactyly, Scoliosis, Hyper...	ORPHA:568
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Scoliosis, Osteoporosis, Kyphosis, Joint hypermobility, Hypogon...	OMIM:619718
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Obsessive-compulsive trait, Akinesia, Hyperactivity, Gait disturbance, Phonic tics...	OMIM:234200
Yunis-Varon Syndrome	Absent sternal ossification, Flat acetabular roof, Cardiomyopathy, Kyphosis, Decreased skull ossi...	OMIM:216340
Neurodegeneration With Brain Iron Accumulation 2B	Optic atrophy, Hyperactivity, Dysdiadochokinesis, Impulsivity, Gait ataxia, Dysphagia, Dysmetria	OMIM:610217
Spondyloenchondrodysplasia	Platyspondyly, Arthritis, Hypoplastic ilia, Kyphosis, Limb undergrowth, Metaphyseal dysplasia, Sh...	ORPHA:1855
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Cervical C2/C3 vertebral fusion, Highly arched eyebrow, Abnormal heart morphology, Fibular hypopl...	ORPHA:444077
Zttk Syndrome	Broad eyebrow, Scoliosis, Hemivertebrae, Kyphosis, Curly hair, Failure to thrive, Sparse eyebrow,...	OMIM:617140
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Trichiasis, Radial deviation of finger, Inguinal hernia, Kyphosis, Sparse eyebrow, Micrognathia, ...	OMIM:609944
Lymphedema-Distichiasis Syndrome	Yellow nails, Distichiasis, Kyphosis, Micrognathia, Tetralogy of Fallot, Patent ductus arteriosus...	OMIM:153400
Monosomy 9Q22.3	Polydactyly, Large for gestational age, Abnormality of the vertebral column, Kyphosis, Cardiac fi...	ORPHA:77301
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Lowe Oculocerebrorenal Syndrome	Rickets, Genu valgum, Platyspondyly, Pathologic fracture, Scoliosis, Osteomalacia, Corneal scarri...	OMIM:309000
Wolf-Hirschhorn Syndrome	Abnormal form of the vertebral bodies, Highly arched eyebrow, Low posterior hairline, Kyphosis, H...	OMIM:194190
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormal form of the vertebral bodi...	ORPHA:818
Koolen-De Vries Syndrome Due To A Point Mutation	Spondylolisthesis, Prominent fingertip pads, Hyperlordosis, Cardiomyopathy, Kyphosis, Pulmonic st...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spondylolisthesis, Prominent fingertip pads, Hyperlordosis, Cardiomyopathy, Kyphosis, Pulmonic st...	ORPHA:363958
Marfan Syndrome	Osteopenia, Limited elbow movement, Tricuspid valve prolapse, Reduced bone mineral density, Spond...	ORPHA:558
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	High anterior hairline, Broad distal phalanx of finger, Genu valgum, Broad distal phalanx of the ...	OMIM:619194
1P36 Deletion Syndrome	Kyphosis, Joint stiffness, Abnormal eyebrow morphology, Hypogonadism, Abnormal cardiac septum mor...	ORPHA:1606
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi...	OMIM:113310
Cockayne Syndrome B	Square pelvis bone, Severe failure to thrive, Abnormal hair morphology, Hypoplastic iliac wing, L...	OMIM:133540
Orofaciodigital Syndrome Iii	Short sternum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly	OMIM:258850
Alstrom Syndrome	Polydactyly, Truncal obesity, Scoliosis, Hyperostosis frontalis interna, Kyphosis, Hypergonadotro...	OMIM:203800
Fanconi Anemia, Complementation Group A	Male infertility, Hypergonadotropic hypogonadism, Complete duplication of thumb phalanx, Abnormal...	OMIM:227650
Ring Chromosome Y Syndrome	Male infertility, Male hypogonadism, Azoospermia, Abnormal spermatogenesis, Obesity, Female infer...	ORPHA:261529
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Sandal gap, Dislocated radial head, Prominent fingertip pads, Ky...	OMIM:135900
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Kyphosis, Back pain, Sacroiliac arthritis, Enthesitis, Oligoarthritis	OMIM:106300
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Polydactyly, Short 5th toe, 2-4 toe cutaneous syndactyly, Abnormal foot morphology, Sacral dimple...	ORPHA:268261
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Situs inversus totalis, Male infertility, Coiled sperm flagella	OMIM:620197
Cockayne Syndrome A	Square pelvis bone, Irregular menstruation, Hypoplastic iliac wing, Limitation of joint mobility,...	OMIM:216400
Cowden Syndrome 5	Scoliosis, Kyphosis, Micrognathia, Palmoplantar hyperkeratosis, Subcutaneous lipoma	OMIM:615108
Atelis Syndrome 2	Sacral dimple, Kyphosis, Supravalvar pulmonary stenosis, Pulmonic stenosis, Micrognathia, Patent ...	OMIM:620185
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe...	OMIM:208500
Mend Syndrome	Polydactyly, Sacral dimple, 2-3 toe syndactyly, Kyphosis, Aortic valve stenosis, Failure to thriv...	OMIM:300960
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Tarsal synostosis, Abnormal dental enamel morphology, Absent eyelashes, Wide anterior fontanel, K...	ORPHA:85199
Williams Syndrome	Abnormal form of the vertebral bodies, Hyperlordosis, Kyphosis, Pulmonic stenosis, Joint stiffnes...	ORPHA:904
Intellectual Developmental Disorder, Autosomal Dominant 73	Limited elbow extension, Clinodactyly of the 5th finger, Inguinal hernia, Highly arched eyebrow, ...	OMIM:620450
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Highly arched eyebrow, Scoliosis, Decreased body weight, Kyphosis, Long eyelashes, Increased femo...	OMIM:619005
Noonan Syndrome 1	Kyphoscoliosis, Male infertility, Radial deviation of finger, Woolly hair, Low posterior hairline...	OMIM:163950
Micro Syndrome	Scoliosis, Kyphosis, Joint stiffness, Micrognathia, Generalized hirsutism	ORPHA:2510
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Large for gestational age, Long foot, Scoliosis, Hyperlordosis, Kyphosis, Arachnodactyly, Sparse ...	OMIM:617011
Cowden Syndrome 6	Scoliosis, Kyphosis, Micrognathia, Palmoplantar hyperkeratosis, Subcutaneous lipoma	OMIM:615109
Histidinemia	Hyperactivity, Hyperhistidinemia	ORPHA:2157
X-Linked Intellectual Disability, Snyder Type	Kyphoscoliosis, Recurrent fractures, Camptodactyly, Synophrys, Kyphosis, Arachnodactyly, Sparse e...	ORPHA:3063
Coffin-Lowry Syndrome	Lumbar kyphosis, Inguinal hernia, Bifid sternum, Highly arched eyebrow, Hyperextensibility of the...	OMIM:303600
Primrose Syndrome	Reduced bone mineral density, Kyphosis, Generalized osteoporosis, Short distal phalanx of finger,...	OMIM:259050
Autosomal Recessive Ataxia, Beauce Type	Pes cavus, Scoliosis, Kyphosis, Ankle clonus	ORPHA:88644
Oculocerebrorenal Syndrome Of Lowe	Kyphosis, Joint stiffness, Umbilical hernia, Joint hypermobility, Abnormal epiphysis morphology, ...	ORPHA:534
Somatomammotropinoma	Macrodactyly, Deep plantar creases, Cortical diaphyseal thickening of the upper limbs, Impotence,...	ORPHA:314769
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Broad eyebrow, Highly arched eyebrow, Hirsutism, Woolly hair, Kyphosis, Low anterior hairline	OMIM:619244
Orofaciodigital Syndrome Type 4	Absent crus of helix, Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, Camp...	ORPHA:2753
Chromosome Xq26.3 Duplication Syndrome	Ventricular hypertrophy, Kyphosis	OMIM:300942
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Kyphoscoliosis, Large for gestational age, Long foot, Broad eyebrow, Limitation of joint mobility...	ORPHA:457359
Acromegaly	Macrodactyly, Deep plantar creases, Cortical diaphyseal thickening of the upper limbs, Impotence,...	ORPHA:963
Alexander Disease	Osteopenia, Scoliosis, Hyperlordosis, Kyphosis, Failure to thrive, Short neck	ORPHA:58
45,X/46,Xy Mixed Gonadal Dysgenesis	Short 4th metacarpal, Male infertility, Short metatarsal, Azoospermia, Scoliosis, Low posterior h...	ORPHA:1772
Cowden Syndrome 1	Scoliosis, Kyphosis, Micrognathia, Palmoplantar hyperkeratosis, Subcutaneous lipoma	OMIM:158350
Foxg1 Syndrome Due To 14Q12 Microdeletion	Scoliosis, Kyphosis	ORPHA:261144
Brown-Vialetto-Van Laere Syndrome 1	Scoliosis, Kyphosis, Ankle clonus	OMIM:211530
Intellectual Developmental Disorder, X-Linked 112	Kyphoscoliosis, Scoliosis, Kyphosis, Abnormal heart morphology, Bicuspid aortic valve, Joint hype...	OMIM:301111
Pseudoxanthoma Elasticum, Forme Fruste	Scoliosis, Mitral valve prolapse, Kyphosis	OMIM:177850
Cowden Syndrome	Lipoma, Bone cyst, Scoliosis, Kyphosis, Failure to thrive, Brachydactyly, Palmoplantar keratoderma	ORPHA:201
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis, Bilateral talipes equinovarus, Micrognathia, Knee flexion contracture, Overlapping fingers	OMIM:619708
Viss Syndrome	Rocker bottom foot, Coronary sinus enlargement, Kyphosis, Arachnodactyly, Mitral valve prolapse, ...	OMIM:619472
Proteus Syndrome	Macrodactyly, Lipoma, Abnormal form of the vertebral bodies, Cachexia, Abnormal finger morphology...	ORPHA:744
Neurofibromatosis Type 1	Osteopenia, Genu valgum, Abnormal hip bone morphology, Slender long bone, Abnormal hair quantity,...	ORPHA:636
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Situs inversus totalis, Male infertility, Dextrocardia	OMIM:619607
Postencephalitic Parkinsonism	Camptocormia, Kyphosis	ORPHA:97349
17Q11 Microdeletion Syndrome	Osteopenia, Long foot, Diaphyseal dysplasia, Beaking of vertebral bodies T12-L3, Abnormality of t...	ORPHA:97685
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Tracheomalacia, Kyphosis, Micrognathia, Ventricular septal defect	ORPHA:1393
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Inguinal hernia, Abnormal hair morphology, Abnormality of the vert...	ORPHA:2273
Rett Syndrome, Congenital Variant	Scoliosis, Pes planus, Kyphosis, Talipes equinovarus	OMIM:613454
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Genu valgum, Broad eyebrow, Tapered distal phalanges of finger, Scoliosis, Decreased body weight,...	OMIM:619475
Sotos Syndrome	Kyphosis, Abnormal heart morphology, Umbilical hernia, Joint hypermobility, Craniosynostosis, Ing...	ORPHA:821
Shprintzen Omphalocele Syndrome	Scoliosis, Decreased body weight, Kyphosis, Omphalocele, Lumbar hyperlordosis	OMIM:182210
Cystinosis, Nephropathic	Rickets, Male infertility, Genu valgum, Hypophosphatemic rickets, Hypopigmentation of hair, Failu...	OMIM:219800
Aspartylglucosaminuria	Beaking of vertebral bodies, Spondylolysis, Spondylolisthesis, Pathologic fracture, Scoliosis, Ky...	OMIM:208400
Ramon Syndrome	Scoliosis, Decreased body weight, Kyphosis, Juvenile rheumatoid arthritis, Hypertrichosis	OMIM:266270
Cockayne Syndrome	Cachexia, Scoliosis, Kyphosis, Congenital contracture, Enamel hypoplasia, Reduced subcutaneous ad...	ORPHA:191
Cockayne Syndrome Type 3	Premature graying of hair, Scoliosis, Cardiomyopathy, Kyphosis, Enamel hypoplasia, Flexion contra...	ORPHA:90324
Triosephosphate Isomerase Deficiency	Failure to thrive, Kyphosis	OMIM:615512
Cystic Fibrosis	Failure to thrive, Male infertility, Cor pulmonale, Clubbing of fingers	OMIM:219700
Autosomal Recessive Spastic Paraplegia Type 35	Positional foot deformity, Kyphosis, Ankle clonus	ORPHA:171629
Branchiooculofacial Syndrome	Premature graying of hair, Clinodactyly of the 5th finger, Proximal placement of thumb, Elbow fle...	OMIM:113620
Cystic Fibrosis	Osteopenia, Male infertility, Decreased body mass index, Osteoporosis, Failure to thrive	ORPHA:586
Alström Syndrome	Short finger, Frontal balding, Truncal obesity, Decreased fertility in males, Hirsutism, Delayed ...	ORPHA:64
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Scoliosis, Kyphosis	OMIM:619482

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Aktip

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Aktip.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
p53-Sensitive Epileptic Behavior and Inflammation in Ft1 Hypomorphic Mice.	Frontiers in genetics (November 2018)	Aktip^{tm1a(EUCOMM)Hmgu}	PMC6278696
Mice with reduced expression of the telomere-associated protein Ft1 develop p53-sensitive progeroid traits.	Aging cell (April 2018)	Aktip^{tm1a(EUCOMM)Hmgu}	PMC6052474

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Aktip^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Aktip^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Aktip^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Aktip MGI:3693832

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

X-ray

Immunophenotyping

X-ray

X-ray

X-ray

Gross Pathology and Tissue Collection

Immunophenotyping

Combined SHIRPA and Dysmorphology

Human diseases caused by Aktip mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data