Gene Summary

Name:
solute carrier family 39 (zinc transporter), member 14
Synonyms:
G630015O18Rik,  Zip14

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Slc39a14tm1b(NCOM)Mfgc HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

5 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel A FCS file(s)

5 Images

Gross Pathology and Tissue Collection

Images

8 Images

Human diseases caused by Slc39a14 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.

The table below shows human diseases associated to Slc39a14 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Slc39a14 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Hypermethioninemia, Elevated hepatic transaminase OMIM:606664
Acrocapitofemoral Dysplasia
Scoliosis, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finger, Cone-shaped... OMIM:607778
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Enlarged epiphyses, Camptodactyly, Joint contracture of the hand, Short stature, Os... OMIM:264010
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus, Failure to thrive, Disproportionate... OMIM:600121
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lumbar platyspondyly, Lytic defects of humeral diaphysis, ... OMIM:601376
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Coronal cleft vertebrae, Limb u... OMIM:118651
Brachyolmia Type 1, Hobaek Type
Scoliosis, Squared-off platyspondyly, Short iliac bones, Flattened proximal radial epiphyses, Kyp... OMIM:271530
Metaphyseal Chondrodysplasia, Spahr Type
Hip dysplasia, Scoliosis, Hyperlordosis, Disproportionate short stature, Metaphyseal chondrodyspl... ORPHA:2501
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Osteoporosis, Scoliosis, Delayed thelarche, Joint laxity, Hyperinsulinemic hypoglycemia, Delayed ... OMIM:616033
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Generalized hypotonia, Elevated hepatic transaminase, Joint laxity, Growth delay, H... OMIM:614727
Multiple Epiphyseal Dysplasia, Lowry Type
Scoliosis, Genu valgum, Abnormal bone ossification, Rhizomelia, Flattened epiphysis, Micrognathia... ORPHA:166016
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Joint laxity, Metaphyseal irregularity, Short phalanx of finge... ORPHA:750
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Limited wrist movement, Localized osteoporosis, Thoracic kyphosis, Flattened femoral h... ORPHA:93284
Avascular Necrosis Of Femoral Head, Primary, 1
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis OMIM:608805
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Flat acetabular roof, Waddling gait, Small epiphyses, Short femoral neck, Short neck, ... ORPHA:94068
Eiken Syndrome
Short toe, Abnormal bone ossification, Short phalanx of finger, Abnormal trabecular bone morpholo... ORPHA:79106
Multiple Epiphyseal Dysplasia With Robin Phenotype
Scoliosis, Metatarsus adductus, Prominent proximal interphalangeal joints, Short femoral neck, Mi... OMIM:601560
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Genu valgum, Platyspondyly, Upper limb undergrowth, Short metatarsal, Synostosis of... ORPHA:93351
Fibular Hemimelia
Craniosynostosis, Hip subluxation, Joint laxity, Structural foot deformity, Bowing of the legs, J... ORPHA:93323
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Scoliosis, Irregularity of vertebral bodies, Abnormal hip joint morpho... ORPHA:1159
Progressive Pseudorheumatoid Dysplasia
Osteoporosis, Camptodactyly of finger, Metaphyseal widening, Platyspondyly, Enlarged interphalang... OMIM:208230
Desbuquois Dysplasia 1
Scoliosis, Short metatarsal, Joint laxity, Phalangeal dislocation, Broad first metatarsal, Pes pl... OMIM:251450
Isolated Glycerol Kinase Deficiency
Osteoporosis, Scoliosis, Adrenocortical hypoplasia, Hyperlordosis, Short stature, Elevated circul... ORPHA:408
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Waddling gait, Femoral bowing, Disproportionate sho... ORPHA:174
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Postaxial hand polydactyly, Short femur, Short phalanx of finger, Aplas... OMIM:200700
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia, Delayed puberty, Hypogonadism OMIM:615270
Insulin-Like Growth Factor I Deficiency
Decreased body weight, Radial deviation of finger, Clinodactyly, Short stature, Hyperactivity, In... OMIM:608747
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Mild short stature, Short phalanx of finger, Generalized joint laxity, Hip osteoarth... OMIM:132400
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Osteoporosis, Hip dislocation, Hip subluxation, Recurrent fractures OMIM:256720
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Chondroectodermal Dysplasia With Night Blindness
Osteoporosis, Abnormality of the knee, Platyspondyly, Metaphyseal irregularity, Difficulty walkin... ORPHA:319195
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Gout, Hypert... OMIM:610947
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular carpal bones, Hip subluxation, Carpal bone hypoplasia, Hypertonia, Ivory epiphyses of t... OMIM:226980
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Disproportionate short stature, Ovoid vertebral bodies, Short long bone, Co... OMIM:611702
Leri-Weill Dyschondrosteosis
Radial bowing, Limited wrist movement, Hypoplasia of the radius, Short 4th metacarpal, Abnormal m... OMIM:127300
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Osteoporosis, Kyphosis, Macrovesicular hepatic steatosis, Hepatomegaly, Failure to thrive OMIM:618234
Mueller-Weiss Syndrome
Fragmented, irregular epiphyses, Chondritis, Limitation of movement at ankles, Difficulty walking... ORPHA:566943
Cerebrooculofacioskeletal Syndrome 1
Osteoporosis, Rocker bottom foot, Arthrogryposis multiplex congenita, Generalized hypotonia, Micr... OMIM:214150
Bruck Syndrome 1
Osteoporosis, Talipes equinovarus, Platyspondyly, Protrusio acetabuli, Scoliosis, Joint laxity, K... OMIM:259450
Hip Dysplasia, Beukes Type
Hip dysplasia, Scoliosis, Abnormal bone ossification, Abnormal ossification involving the femoral... ORPHA:2114
Multiple Epiphyseal Dysplasia Type 1
Hip dysplasia, Genu valgum, Disproportionate short stature, Finger joint hypermobility, Gait dist... ORPHA:93308
Spondylometaphyseal Dysplasia, Corner Fracture Type
Scoliosis, Metaphyseal irregularity, Ovoid vertebral bodies, Coxa vara, Hyperconvex vertebral bod... OMIM:184255
Winchester Syndrome
Osteolysis involving bones of the upper limbs, Generalized osteoporosis, Osteolysis involving bon... OMIM:277950
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteoporosis, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic transaminase, Hepat... ORPHA:369
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Joint hyperflexibility, Brachydactyly, Short distal phalanx of finger ORPHA:2787
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Scoliosis, Platyspondyly, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Postnatal gro... OMIM:618728
Odontochondrodysplasia 1
Scoliosis, Joint hypermobility, Short phalanx of finger, Flared iliac wing, Flat acetabular roof,... OMIM:184260
Extensor Tendons Of Finger Anomalies
Osteoporosis, Camptodactyly of finger, Limitation of joint mobility ORPHA:3294
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap... ORPHA:1972
Immunodeficiency 12
Osteoporosis, Growth delay OMIM:615468
Hemidystonia-Hemiatrophy Syndrome
Dystonia, Hemiatrophy, Dense calvaria, Rhizomelic leg shortening, Limb dystonia ORPHA:306741
Prieto X-Linked Mental Retardation Syndrome
Osteoporosis, Patellar subluxation, Generalized hypotonia, Radial deviation of finger, Clinodacty... OMIM:309610
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Osteoporosis, Contractures of the large joints, Short stature, Postnatal growth retardation OMIM:608278
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Osteoporosis, Camptodactyly of finger, Scoliosis, Kyphosis, Ataxia, Hypoglycemia, Short stature, ... ORPHA:48431
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Mild short stature, Flat acetabular roof, Monkey wrench femoral neck, Genu varum, ... OMIM:617719
Slc35A2-Cdg
Scoliosis, Joint hypermobility, Abnormality of long bone morphology, Craniosynostosis, Hip sublux... ORPHA:356961
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Fibular bowing, Genu valgum, Generalized bone demineralization, Metaphyseal ir... OMIM:600785
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Dislocated radial head, Scoliosis, Generalized hypotonia, Plat... OMIM:614856
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Pes planus, Small epiphyses, Short femoral neck, Advanced ossification of carpal bones... OMIM:618363
Femoral-Facial Syndrome
Hip dysplasia, Scoliosis, Short femur, Maternal diabetes, Radioulnar synostosis, Preaxial foot po... ORPHA:1988
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip subluxation, Flattened femoral head, Waddling gait, Short femoral neck, Hump-shaped mound of ... ORPHA:99642
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Severe short-limb dwarfism, Abnormally shaped carpal bon... OMIM:201250
Stuve-Wiedemann Syndrome
Scoliosis, Short phalanx of finger, Pathologic fracture, Elbow flexion contracture, Femoral bowin... OMIM:601559
Hall-Riggs Mental Retardation Syndrome
Osteoporosis, Scoliosis, Platyspondyly, Kyphosis, Irregular vertebral endplates, Metaphyseal dysp... OMIM:234250
Forsythe-Wakeling Syndrome
Osteoporosis, Decreased body weight, Growth delay, Short stature OMIM:613606
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Insulin resistance, Micrognathia, Postnatal growth retardation, Severe intrauterine... ORPHA:73272
Osteogenesis Imperfecta, Type Xxi
Osteoporosis, Joint hypermobility, Scoliosis, Platyspondyly, Pes planus, Recurrent fractures, Pes... OMIM:619131
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Joint stiffn... ORPHA:240
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transaminase OMIM:306000
Perrault Syndrome 1
Osteoporosis, Scoliosis, Increased circulating gonadotropin level, Gait ataxia, Spastic diplegia,... OMIM:233400
Gnathodiaphyseal Dysplasia
Scoliosis, Bowing of the long bones, Recurrent fractures, Osteopenia, Mandibular osteomyelitis, T... ORPHA:53697
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Hemochromatosis Type 2
Increased circulating ferritin concentration, Osteoporosis, Lethargy, Elevated hepatic transamina... ORPHA:79230
Urban-Rogers-Meyer Syndrome
Osteoporosis, Camptodactyly of finger, Toe syndactyly, Short neck, Abnormality of epiphysis morph... ORPHA:3409
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Hypoplasia of the capital femoral epiphysis, Metaphyseal irregularity, Delayed ossif... OMIM:607078
Autosomal Dominant Focal Dystonia, Dyt25 Type
Axial dystonia, Craniofacial dystonia, Lingual dystonia, Laryngeal dystonia, Torticollis, Focal d... ORPHA:329466
Pseudopseudohypoparathyroidism
Osteoporosis, Short metatarsal, Pseudohypoparathyroidism, Short stature, Short metacarpal, Short ... OMIM:612463
Diastrophic Dysplasia
Costal cartilage calcification, Talipes equinovarus, Disproportionate short-limb short stature, H... OMIM:222600
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelic short stature, Hypoplasia ... OMIM:249700
Shashi-Pena Syndrome
Osteoporosis, Scoliosis, Generalized hypotonia, Kyphosis, Hypoglycemia OMIM:617190
Brachyolmia Type 1, Toledo Type
Squared-off platyspondyly, Broad tibial metaphyses, Childhood-onset short-trunk short stature, Ga... OMIM:271630
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Joint laxity, Childhood onset short-limb short stature, Metaph... OMIM:177170
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Abnormality of tibia morphology, Abnormal form of the vertebral b... ORPHA:3344
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatom... OMIM:614480
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis, Patellar subluxation, Generalized hypotonia, Finger clinodactyly, Bilateral talipes... ORPHA:2958
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Generalized hypot... OMIM:600081
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Talocalcaneal synostosis, Pes planus, Sandal gap, Wide capital fe... OMIM:147891
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Short toe, Short metatarsal, Pseudohypoparathyroidism, Hypothyroidism, Short finger... OMIM:103580
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Elevated circulating alka... OMIM:616829
Hypochondroplasia
Limited elbow extension, Childhood onset short-limb short stature, Aplasia/hypoplasia of the extr... OMIM:146000
Osteoporosis-Pseudoglioma Syndrome
Osteoporosis, Abnormal femoral neck/head morphology, Joint laxity, Loss of ability to walk, Crump... ORPHA:2788
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Short metatarsal, Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, Sh... OMIM:612462
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Absence o... ORPHA:2410
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Flynn-Aird Syndrome
Osteoporosis, Increased bone density with cystic changes, Ataxia, Increased bone mineral density,... OMIM:136300
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Hepatomegaly, Hypertriglycer... OMIM:232700
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Scoliosis, Dystonia, Generalized hypotonia, Hypotonia, Kyphosis, Ataxia, Obesi... OMIM:616756
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Mesomelic short stature, Pseudoarthrosis, Short tibia, Neonatal short-l... OMIM:156230
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Abnormali... OMIM:613313
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flat distal femoral epiphysis, Genu valgum, Proximal femoral metaphyseal irregularity, Platyspond... OMIM:609324
Menkes Disease
Osteoporosis, Metaphyseal widening, Generalized hypotonia, Joint laxity, Hypertonia, Short statur... OMIM:309400
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Scoliosis, Abnormal form of the vertebral bodies, Abnormality of the metacarpal bo... ORPHA:2370
Atelosteogenesis Type I
Scoliosis, Platyspondyly, Short femur, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Bruck Syndrome
Osteoporosis, Platyspondyly, Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Bowing of t... ORPHA:2771
Warburg Micro Syndrome 1
Osteoporosis, Joint hypermobility, Overlapping toe, Spastic diplegia, Short stature, Failure to t... OMIM:600118
Osteogenesis Imperfecta, Type Xii
Osteoporosis, Scoliosis, Generalized osteoporosis, Short stature, Micrognathia OMIM:613849
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Short femur, Short neck, Micrognathia, Flexion contracture, Limb undergrowth, Decr... OMIM:616897
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hip joint morphology, Flattened femoral head, Thoracic platyspondy... ORPHA:166011
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Platyspondyly, Scoliosis, Recurrent fractures, Severe short stature, Osteopenia, Fe... OMIM:126550
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia, Growth delay, Metaphyseal cupping, Bowing of the legs, Flared met... OMIM:619073
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Abnormal form of the vertebral bodies, Craniofacial hyperostosis... ORPHA:1802
Glycerol Kinase Deficiency
Osteoporosis, Adrenocortical hypoplasia, Lethargy, Growth delay, Hypoglycemia, Hypertriglyceridem... OMIM:307030
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal irregularity, Abnormality of the vertebral column, Metaphyseal cupping ... OMIM:250460
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Metaphyseal irregularity, Bowing of the legs, Thin bony cortex, Delayed epiphy... OMIM:264700
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Platyspondyly, Kyphosis, Short stature ORPHA:2786
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender build, Slender long bones with narrow diaphyses, Dense metaphyseal bands, Small for gesta... ORPHA:50811
Geroderma Osteodysplastica
Osteoporosis, Scoliosis, Platyspondyly, Abnormal bone ossification, Abnormality of epiphysis morp... ORPHA:2078
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Platyspondyly, Cone-shaped epiphysis, Short stature ORPHA:71267
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly, Osteoarthritis of the elbow, Protrusio acetabuli, Stiff shoulders, Hip osteoarthri... ORPHA:2619
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Metatropic Dysplasia
Scoliosis, Arthrogryposis multiplex congenita, Dumbbell-shaped metaphyses, Absent primary metaphy... OMIM:156530
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Pes planus, Flat acetabular roof, Narrow greater sciatic notch, Cone-shaped epiphyses ... OMIM:609616
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Decreased hip abduction, Flared iliac wing, Rhizomelia... OMIM:183849
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Metaphyseal irregularity, Bowing of the legs, Thin bony cortex, Delayed epiphy... OMIM:277440
Premature Ovarian Failure 2B
Osteoporosis, Delayed puberty OMIM:300604
Epiphyseal Dysplasia, Multiple, 4
Hip dysplasia, Scoliosis, Limited elbow flexion, Epiphyseal dysplasia, Double-layered patella, Sh... OMIM:226900
Atelosteogenesis, Type I
Short metatarsal, Thoracic platyspondyly, Multinucleated giant chondrocytes in epiphyseal cartila... OMIM:108720
Congenital Bile Acid Synthesis Defect Type 1
Osteoporosis, Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Bilia... ORPHA:79301
Dystonia 30
Dystonia, Loss of ability to walk, Writer's cramp, Torticollis, Leg dystonia, Arm dystonia, Oroma... OMIM:619291
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Osteoporosis, Joint laxity, Recurrent fractures, Short stature, Epiphyseal dysplasia OMIM:248010
Osteoporosis
Osteoporosis OMIM:166710
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Hypoplasia of the radius, Short femur, Generalized hypotonia, Rhizomelia, Short hum... OMIM:607143
Pyle Disease
Scoliosis, Genu valgum, Limited elbow extension, Platyspondyly, Hypoplastic frontal sinuses, Redu... OMIM:265900
Congenital Bile Acid Synthesis Defect Type 2
Osteoporosis, Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chron... ORPHA:79303
Thanatophoric Dysplasia Type 1
Platyspondyly, Lethal short-limbed short stature, Short femur, Abnormal sacroiliac joint morpholo... ORPHA:1860
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Short ... OMIM:612447
Dystonia 4, Torsion, Autosomal Dominant
Slender build, Torsion dystonia, Gait ataxia, Torticollis, Generalized dystonia, Limb dystonia OMIM:128101
Monosomy 5P
Scoliosis, Finger syndactyly, Microretrognathia, Joint hyperflexibility, Recurrent fractures, Sma... ORPHA:281
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Platyspondyly, Irregular epiphyses, Ovoid vertebral bodies, Narrow iliac... OMIM:608728
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Genu valgum, Platyspondyly, Decreased hip abduction, Thoracic kyphosis, Irregular vert... OMIM:609223
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Moderately short stature, Platyspondyly, Flexion contracture, Failure to thrive, Flattened epiphy... ORPHA:157965
Czech Dysplasia
Scoliosis, Platyspondyly, Short toe, Short metatarsal, Thoracic kyphosis, Flexion contracture, Na... OMIM:609162
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Platyspondyly, Short middle phalanx of the 2nd finger, Short ... OMIM:156510
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Stiff interphalangeal joints, Weight loss, Joint st... ORPHA:465508
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Scoliosis, Joint laxity, Congenital hip dislocation, Metaphyseal irregularity, Posterior scallopi... OMIM:603546
Dyssegmental Dysplasia With Glaucoma
Platyspondyly, Wide anterior fontanel, Broad long bones, Short long bone, Flared metaphysis, Shor... OMIM:601561
Mucopolysaccharidosis, Type Iva
Osteoporosis, Genu valgum, Scoliosis, Hyperlordosis, Platyspondyly, Joint laxity, Constricted ili... OMIM:253000
Sialidosis Type 2
Osteoporosis, Generalized hypotonia, Kyphosis, Flexion contracture, Pedal edema, Ataxia, Hepatome... ORPHA:87876
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Osteoporosis, Scoliosis, Elevated hepatic transaminase, Insulin resistance, Micrognathia, Hepatic... OMIM:615381
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Postnatal growth retardation, Increased susceptibility to fractures, Thin bony cort... ORPHA:289157
Mucopolysaccharidosis, Type Ivb
Osteoporosis, Genu valgum, Scoliosis, Hyperlordosis, Platyspondyly, Joint laxity, Constricted ili... OMIM:253010
Geroderma Osteodysplasticum
Osteoporosis, Platyspondyly, Biconcave vertebral bodies, Beaking of vertebral bodies, Camptodacty... OMIM:231070
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Elevated hepatic transaminase, Hyperbilirubinemia, Portal ... OMIM:616278
Osteogenesis Imperfecta, Type Iii
Scoliosis, Disproportionate short-limb short stature, Protrusio acetabuli, Wide anterior fontanel... OMIM:259420
Juvenile Paget Disease
Osteoporosis, Bowing of the long bones, Recurrent fractures, Hyperuricemia, Coarse metaphyseal tr... ORPHA:2801
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Central hypothyroidism, Ataxia, Postnatal growth retardation, Hypoglycemia, Short statu... OMIM:616113
Atelosteogenesis Type Ii
Short phalanx of finger, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatarsus adductus, Short ... ORPHA:56304
Glycosylphosphatidylinositol Biosynthesis Defect 15
Osteoporosis, Inability to walk, Gait ataxia, Generalized hypotonia, Dysmetria, Osteopenia, Spast... OMIM:617810
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemia, Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Generalized hypot... OMIM:241530
Osteogenesis Imperfecta, Type Xvii
Osteoporosis, Platyspondyly, Scoliosis, Thin metacarpal cortices, Short stature, Vertebral compre... OMIM:616507
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Scoliosis, Dystonia, Bradykinesia, Infantile axial hypotonia, Ankle clonus, Progressive inability... ORPHA:521406
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Kyphosis, Severe short stature, Fibular bowing, Horizontal sacrum... OMIM:112350
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Pelviscapular Dysplasia
Humeroradial synostosis, Short femur, Short neck, Congenital hip dislocation, Hypoplastic scapula... ORPHA:93333
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Femoral bowing, Metaphyseal irregularity, Flattening of the talar dome, Hypopho... OMIM:307800
Classic Galactosemia
Osteoporosis, Dystonia, Lethargy, Elevated hepatic transaminase, Decreased serum insulin-like gro... ORPHA:79239
Epiphyseal Chondrodysplasia, Miura Type
Scoliosis, Finger clinodactyly, Broad hallux, Long hallux, Osteopenia, Arachnodactyly, Epiphyseal... OMIM:615923
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Generalized bone demineralization, Joint laxity, Metaphyseal irregularity, Bowing of t... ORPHA:93352
African Iron Overload
Peritonitis, Increased circulating ferritin concentration, Micronodular cirrhosis, Osteoporosis, ... ORPHA:139507
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Conjugated hyperbilirubinemia, Hepat... OMIM:619232
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Talipes equinovalgus, Mesomelia, Hip dislocation, Short stature, Short ti... OMIM:605274
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Generalized joint laxity, Lumbar hyperlordosis, Irregular patellae, Patellar hypoplasia, Genu var... OMIM:609325
Dystonia 25
Lingual dystonia, Laryngeal dystonia, Torticollis, Limb dystonia OMIM:615073
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Metaphyseal irregularity, Narrow greater sciatic notch, Delayed epiphyseal ossifica... OMIM:602557
Hyaline Fibromatosis Syndrome
Osteoporosis, Osteopenia, Osteolysis, Progressive flexion contractures OMIM:228600
Cantu Syndrome
Osteoporosis, Short hallux, Platyspondyly, Erlenmeyer flask deformity of the femurs, Hypoplastic ... OMIM:239850
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Hyperactivity, Short neck, Atlantoaxial instability, Limited elbow extensi... ORPHA:239
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Scoliosis, Hypercholesterolemia, Joint hypermobility, Maturity-onset diabetes of the young, Postn... ORPHA:254531
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Craniosynostosis, Short neck, Forearm undergrowth, Absent ... OMIM:251230
Orofaciodigital Syndrome Type 10
Prominent calcaneus, Oligodactyly, Mesomelic arm shortening, Tarsal synostosis, Short neck, Short... ORPHA:2756
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteoporosis, Squared iliac bones, Short neck, Pes planus, Thoracic scoliosis, Shoulder dislocati... OMIM:618000
Duchenne And Becker Muscular Dystrophy
Scoliosis, Hyperlordosis, Gait disturbance, Slender long bone, Reduced bone mineral density, Join... ORPHA:262
Rhizomelic Chondrodysplasia Punctata, Type 2
Scoliosis, Disproportionate short stature, Generalized hypotonia, Rhizomelia, Stippled calcificat... OMIM:222765
Cranioectodermal Dysplasia
Osteoporosis, Craniosynostosis, Finger syndactyly, Rhizomelia, Joint hyperflexibility, Short dist... ORPHA:1515
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, Wide anterior fontanel, Overlapping toe, Micrognathia, Fibular hypoplasia, Clinodac... OMIM:201170
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Weight loss, Hepatomegaly, Splenomegaly ORPHA:100024
Mycetoma
Osteoporosis, Abnormality of the knee, Abnormal form of the vertebral bodies, Bone cyst, Back pai... ORPHA:2583
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Pes planus, Wrist flexion contracture, Short neck, Micrognathia, Oste... OMIM:255800
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the knee, Hyperlordosis, Osteolysis, Abnormality of epiphysis... ORPHA:970
Nestor-Guillermo Progeria Syndrome
Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Scoliosis, Osteolysis, Flex... OMIM:614008
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly, Short stature OMIM:300484
Methylcobalamin Deficiency Type Cble
Osteoporosis, Scoliosis, Lethargy, Lower limb hypertonia, Postnatal growth retardation, Clinodact... ORPHA:2169
Infantile Systemic Hyalinosis
Osteoporosis, Camptodactyly of finger, Growth delay, Micromelia, Recurrent fractures, Aplasia/Hyp... ORPHA:2176
Mucolipidosis Type Iii
Hyperlordosis, Large iliac wing, Abnormal form of the vertebral bodies, Craniofacial hyperostosis... ORPHA:577
Ovarian Dysgenesis 1
Osteoporosis, Increased circulating gonadotropin level OMIM:233300
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cirrhosis, Hepatocellular necrosis, Abnormality of ... OMIM:231100
Multicentric Osteolysis, Nodulosis, And Arthropathy
Metatarsal osteolysis, Split hand, Pes planus, Interphalangeal joint contracture of finger, Wrist... OMIM:259600
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Erlenmeyer flask deformity of the femurs, Osteopenia, Hepatosplenomegaly OMIM:610539
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Conjugate... OMIM:616860
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Increased serum zinc OMIM:601979
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis, Increased erythrocyte protoporphyrin concentration OMIM:300752
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Platyspondyly, Metaphyseal chondrodysplasia, Mild short stature, Short... OMIM:156500
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis, Severe short stature OMIM:204730
Multiple Epiphyseal Dysplasia Type 4
Scoliosis, Short metatarsal, Acetabular dysplasia, Joint stiffness, Waddling gait, Short thumb, D... ORPHA:93307
Dermatosparaxis Ehlers-Danlos Syndrome
Osteoporosis, Hip dysplasia, Scoliosis, Rickets, Joint hyperflexibility, Severe short stature, Av... ORPHA:1901
Dystonia 6, Torsion
Torsion dystonia, Writer's cramp, Laryngeal dystonia, Lingual dystonia, Torticollis, Limb dystoni... OMIM:602629
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Pes planus, Flattened femoral head, Thoracic platyspond... ORPHA:457395
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Ankylosis, Hydroxyprolinemia, Kyphosis, Bowing of the long bones, Recurrent fractur... OMIM:239000
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Cholestasis, Intrahepatic, Of Pregnancy, 1
Elevated hepatic transaminase, Intrahepatic cholestasis, Abnormal liver function tests during pre... OMIM:147480
Boomerang Dysplasia
Severe short-limb dwarfism, Abnormal bone ossification, Abnormality of tibia morphology, Poorly o... ORPHA:1263
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Hemivertebrae, Metatarsus adductus,... ORPHA:93322
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Large iliac wing, Hip subluxation, Joint laxity, Flared iliac wing, Pes planus, Ovoid vertebral b... OMIM:271640
Congenital Arthrogryposis With Anterior Horn Cell Disease
Inability to walk, Hip dysplasia, Dystonia, Arthrogryposis multiplex congenita, Generalized hypot... OMIM:611890
Combined Oxidative Phosphorylation Deficiency 39
Dystonia, Arthrogryposis multiplex congenita, Flexion contracture, Intrauterine growth retardatio... OMIM:618397
Rothmund-Thomson Syndrome, Type 1
Osteoporosis, Hypothyroidism, Male hypogonadism, Short stature OMIM:618625
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Kyphosis, Abnormal co... ORPHA:2777
Spondyloepimetaphyseal Dysplasia, Missouri Type
Disproportionate short stature, Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flatt... ORPHA:93356
Acheiropody
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Aplas... OMIM:200500
Familial Hyperprolactinemia
Osteoporosis, Osteopenia, Female hypogonadism ORPHA:397685
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteoporosis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreas... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteoporosis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreas... OMIM:610489
Estrogen Resistance Syndrome
Osteoporosis, Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Ab... ORPHA:785
Hypermanganesemia With Dystonia 2
Scoliosis, Dystonia, Gait disturbance, Flexion contracture, Muscular hypotonia of the trunk, Brad... OMIM:617013
Gracile Syndrome
Increased circulating ferritin concentration, Cirrhosis, Decreased transferrin saturation, Hepati... ORPHA:53693
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Generalized hypotonia, Rickets, Ataxia, Hepatomegaly, Type I diabetes mellitus, Fai... OMIM:560000
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Micrognathia, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Metaphyse... ORPHA:440354
Lopes-Maciel-Rodan Syndrome
Scoliosis, Dystonia, Hypertonia, Kyphosis, Bradykinesia, Muscular hypotonia of the trunk, Ankle c... OMIM:617435
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Scoliosis, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gonadotr... ORPHA:98754
Ivic Syndrome
Scoliosis, Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb undergrowth,... OMIM:147750
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Generalized hypotonia, Joint laxity, Mild short stature, Kyphosis, Increased susceptib... OMIM:130060
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Platyspondyly, Maternal diabetes, Abnormal vertebral morphology, Aplasia/hypoplasia involving bon... ORPHA:93346
Nail-Patella Syndrome
Scoliosis, Abnormality of tibia morphology, Pes planus, Toe walking, Iliac horns, Abnormal digit ... ORPHA:2614
Primary Dystonia, Dyt17 Type
Torticollis, Generalized dystonia, Craniofacial dystonia ORPHA:370103
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Scoliosis, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gonadotr... ORPHA:98793
Acth-Independent Macronodular Adrenal Hyperplasia 2
Osteoporosis, Increased urinary cortisol level, Decreased circulating ACTH level, Increased circu... OMIM:615954
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Metaphyseal irregularity, Rhizomelia, Hypoplastic inferior ilia, Short ... OMIM:608940
Prader-Willi Syndrome
Scoliosis, Neonatal hypotonia, Failure to thrive in infancy, Delayed puberty, Type II diabetes me... OMIM:176270
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteoporosis, Genu valgum, Dystonia, Metaphyseal sclerosis, Scoliosis, Bowing of the long bones, ... OMIM:612199
Spondylo-Ocular Syndrome
Osteoporosis, Platyspondyly, Facial hypotonia, Joint hyperflexibility, Pes planus, Thoracic kypho... ORPHA:85194
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hepatic steatosis, Abnormal muscle... ORPHA:2959
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Scoliosis, Craniosynostosis, Short phalanx of finger, Cone-shaped epiphyses ... OMIM:250215
Biliary Atresia, Extrahepatic
Increased total bilirubin, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahe... OMIM:210500
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irreg... OMIM:300554
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Scoliosis, Transient hyperphenylalaninemia, Dystonia, Cogwheel rigidity, Gait... OMIM:128230
Striatonigral Degeneration, Childhood-Onset
Dystonia, Hypertonia, Loss of ability to walk, Craniofacial dystonia, Unsteady gait OMIM:617054
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Scoliosis, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gonadotr... ORPHA:177904
Sim1-Related Prader-Willi-Like Syndrome
Scoliosis, Neonatal hypotonia, Central hypothyroidism, Type II diabetes mellitus, Precocious pube... ORPHA:398079
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal enchondral ossificat... ORPHA:2635
Pontocerebellar Hypoplasia, Type 2E
Osteoporosis, Scoliosis, Neonatal hypotonia, Hypertonia, Flexion contracture, Opisthotonus, Spast... OMIM:615851
Idiopathic Juvenile Osteoporosis
Osteoporosis, Gait disturbance, Kyphosis, Recurrent fractures, Vertebral compression fracture ORPHA:85193
Osteogenesis Imperfecta, Type Xix
Scoliosis, Biconcave vertebral bodies, Rhizomelia, Recurrent fractures, Severe short stature, Ost... OMIM:301014
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Scoliosis, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gonadotr... ORPHA:177901
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Osteoporosis, Obesity, Diabetes mellitus, Hypogonadotropic hypogonadism OMIM:610628
Lichtenstein Syndrome
Osteoporosis, Pes cavus, Increased susceptibility to fractures, Metacarpophalangeal joint contrac... OMIM:246550
Hypochondroplasia
Scoliosis, Hyperlordosis, Short toe, Childhood onset short-limb short stature, Abnormal form of t... ORPHA:429
Spastic Paraplegia 47, Autosomal Recessive
Spastic paraplegia, Inability to walk, Dystonia, Genu recurvatum, Neonatal hypotonia, Pes planus,... OMIM:614066
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Cholestasis, Jaundice... OMIM:617156
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Scoliosis, Dystonia, Puberty and gonadal disorders, Difficulty walking, Kyphosis, Absent pubertal... ORPHA:464282
Primary Pigmented Nodular Adrenocortical Disease
Osteoporosis, Slender build, Increased susceptibility to fractures, Short stature, Diabetes melli... ORPHA:189439
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Facial hypotonia, Overweight, Hypotonia, Generalized joint laxity, Difficulty walking, ... ORPHA:280763
Temple Syndrome
Scoliosis, Postnatal growth retardation, Short foot, Obesity, Small hand, Small for gestational a... ORPHA:254516
Atelosteogenesis Type Iii
Vertebral hypoplasia, Talipes equinovarus, Thoracolumbar kyphosis, Coronal cleft vertebrae, Micro... ORPHA:56305
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Pes planus, Thoracic kyphosis... OMIM:223800
Spastic Ataxia 1, Autosomal Dominant
Spastic paraplegia, Dystonia, Leg muscle stiffness, Spastic ataxia, Gait disturbance, Pes cavus OMIM:108600
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Squared iliac bones, Lumbar platyspondyly, Beaking of vertebral bodies, Neonatal hypotonia, Limb ... OMIM:618961
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Osteoporosis, Anterior hypopituitarism, Absence of secondary sex characteristics, Recurrent fract... ORPHA:2235
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Intrauterine growth retardation, Dystonia, Spastic tetraplegia, Muscular hypotonia of the trunk OMIM:251280
Autosomal Recessive Spastic Paraplegia Type 56
Spastic paraplegia, Dystonia, Toe walking, Spastic gait, Unsteady gait ORPHA:320411
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Genu valgum, Osteolysis, Scoliosis, Abnormal form of the vertebra... ORPHA:93160
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Growth delay, Hypocalcemic tetany, Postnatal growth retardation, Cortical thickenin... ORPHA:93324
Slc39A8-Cdg
Inability to walk, Cutaneous syndactyly of toes, Hypomanganesemia, Craniosynostosis, Dystonia, Fa... ORPHA:468699
Gabriele-De Vries Syndrome
Dystonia, Joint laxity, Waddling gait, Intrauterine growth retardation, Long fingers OMIM:617557
Kyphomelic Dysplasia
Radial bowing, Platyspondyly, Disproportionate short stature, Short femur, Micrognathia, Dumbbell... OMIM:211350
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Osteoporosis, Scoliosis, Biconcave vertebral bodies, Hepatic steatosis, Hypermethioninemia, Gener... OMIM:236200
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Femoral bowing, Platyspondyly, Flared iliac wing, Rhizome... OMIM:602111
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Moderately short stature, Camptodactyly of finger, Dislocated radial head, Platyspondyly, Joint l... OMIM:612350
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Scoliosis, Foot oligodactyly, Amelia, Short femur OMIM:601357
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormality of limb bone morphology, Abnormality of epiphysis morphology, Synovitis, Reduced bone... ORPHA:85435
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Osteoporosis, Cirrhosis, Elevated hepatic transamin... OMIM:235200
Osteogenesis Imperfecta, Type Xviii
Joint hypermobility, Joint laxity, Biconcave vertebral bodies, Bowing of the long bones, Recurren... OMIM:617952
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Osteoporosis, Macronodular adrenal hyperplasia, Truncal obesity, Failure to thrive, Diabetes mell... ORPHA:189427
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Platyspondyly, Metaphyseal irregularity, Proportionate short stature, Joint contract... OMIM:601668
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Decreased circulating parathyroid hormone level, Hypophosphatemic rickets, Incr... ORPHA:157215
Lipodystrophy, Congenital Generalized, Type 4
Osteoporosis, Scoliosis, Hyperlordosis, Elevated hepatic transaminase, Hyperinsulinemia, Insulin ... OMIM:613327
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Reduced bone mineral density, Short stature, S... ORPHA:172
Osteogenesis Imperfecta, Type V
Joint hypermobility, Platyspondyly, Biconcave vertebral bodies, Pes planus, Recurrent fractures, ... OMIM:610967
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Genu valgum, Slender long bones with narrow diaphyses, Disharmonious carpal bone, ... OMIM:608154
Primary Dystonia, Dyt13 Type
Dystonia, Torsion dystonia, Craniofacial dystonia, Torticollis, Generalized dystonia, Limb dyston... ORPHA:98807
Microphthalmia With Limb Anomalies
Tarsal synostosis, Broad thumb, Abnormality of the metacarpal bones, Sandal gap, Micrognathia, Po... ORPHA:1106
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Laryngeal dystonia, Focal dystonia, Limb dystonia, Oromandibular ... ORPHA:464440
Gm1-Gangliosidosis, Type Iii
Scoliosis, Platyspondyly, Dystonia, Flared iliac wing, Kyphosis, Anterior beaking of lumbar verte... OMIM:230650
Acth-Independent Macronodular Adrenal Hyperplasia
Osteoporosis, Decreased circulating ACTH level, Increased circulating cortisol level, Kyphosis, P... OMIM:219080
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Delayed pubic bone ossification, Genu valgum, Club-shaped proximal femur, Hyperlordosi... OMIM:184250
Achondrogenesis Type 2
Delayed pubic bone ossification, Abnormal bone ossification, Delayed proximal femoral epiphyseal ... ORPHA:93296
19P13.3 Microduplication Syndrome
Osteoporosis, Hip dysplasia, Hip subluxation, Growth delay, Clinodactyly, Pes cavus, Hyperactivit... ORPHA:447980
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbilirubinemia... OMIM:214950
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Osteoporosis, Growth delay, Syndactyly, Camptodactyly OMIM:616006
Smith-Mccort Dysplasia 1
Scoliosis, Genu valgum, Atlantoaxial instability, Multicentric femoral head ossification, Platysp... OMIM:607326
Osteogenesis Imperfecta, Type Xiv
Scoliosis, Recurrent fractures, Increased susceptibility to fractures, Short stature, Osteopenia,... OMIM:615066
Beta-Thalassemia Intermedia
Osteoporosis, Cirrhosis, Abnormality of iron homeostasis, Hypothyroidism, Hepatocellular carcinom... ORPHA:231222
Rhyns Syndrome
Abnormality of long bone morphology, Hypoplastic ilia, Hypopituitarism, Abnormality of the liver,... ORPHA:140976
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Decreased cranial base ossification, Hypoplastic ilia, Metaphyseal cu... OMIM:151210
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Scoliosis, Hip subluxation, Joint laxity, Metaphyseal irregularity, Small for gestational age, Ne... ORPHA:93360
Prader-Willi-Like Syndrome
Scoliosis, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gonadotr... ORPHA:398073
Autosomal Recessive Hypophosphatemic Rickets
Lower limb asymmetry, Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic ric... ORPHA:289176
Propionic Acidemia
Osteoporosis, Dystonia, Lethargy, Hyperglycinemia, Muscular hypotonia of the trunk, Hypoglycemia,... OMIM:606054
3-Methylglutaconic Aciduria Type 1
Dystonia, Spastic tetraparesis, Hypoglycemia, Hepatomegaly, Progressive cerebellar ataxia, Failur... ORPHA:67046
Cleidocranial Dysplasia
Scoliosis, Abnormality of the metacarpal bones, Short clavicles, Spina bifida occulta, Micrognath... ORPHA:1452
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteoporosis, Increased circulating cortisol level, Primary hypercortisolism, Increased body weig... OMIM:615830
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy, Hepatic steatosis, Hypertonia, Ketotic hypoglycemia, Intrauterine growth reta... ORPHA:26792
Dystonia With Cerebellar Atrophy
Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia, Torticollis OMIM:611694
Aromatase Deficiency
Osteoporosis, Genu valgum, Insulin resistance, Hypergonadotropic hypogonadism, Hepatic steatosis,... ORPHA:91
Macs Syndrome
Osteoporosis, Joint hypermobility, Scoliosis, Hypergonadotropic hypogonadism, Pes planus, Decreas... OMIM:613075
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Short long bone, Micrognat... ORPHA:1423
Anauxetic Dysplasia 2
Hyperlordosis, Hypoplasia of the femoral head, Ovoid vertebral bodies, Flexion contracture, Cervi... OMIM:617396
Camptodactyly Syndrome, Guadalajara, Type Ii
Camptodactyly of finger, Short 3rd toe, Talipes equinovarus, Short neck, Short middle phalanx of ... OMIM:211920
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Osteoporosis, Generalized hypotonia, Recurrent fractures, Hyperextensibility of the finger joints... OMIM:309583
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Acromicric Dysplasia
Short phalanx of finger, Ovoid vertebral bodies, Cone-shaped epiphysis, Severe short stature, Sho... OMIM:102370
Pituitary Adenoma 4, Acth-Secreting
Osteoporosis, Glucose intolerance, Biconcave vertebral bodies, Impaired glucose tolerance, Kyphos... OMIM:219090
Dyschondrosteosis And Nephritis
Radial bowing, Short forearm, Mesomelic short stature, Short tibia, Ulnar bowing OMIM:127350
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteoporosis, Gait ataxia, Generalized hypotonia, Difficulty walking, Dysmetria, Osteopenia, Spas... ORPHA:529665
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Osteoporosis, Clinodactyly, Hypogonadotropic hypogonadism OMIM:614838
Magel2-Related Prader-Willi-Like Syndrome
Scoliosis, Neonatal hypotonia, Central hypothyroidism, Type II diabetes mellitus, Precocious pube... ORPHA:398069
Spondylometaphyseal Dysplasia, Schmidt Type
Genu valgum, Platyspondyly, Hypoplastic pelvis, Short long bone, Metaphyseal dysplasia, Short sta... ORPHA:93316
Prader-Willi Syndrome
Scoliosis, Central hypothyroidism, Decreased circulating gonadotropin concentration, Increased su... ORPHA:739
Dystonia 28, Childhood-Onset
Dystonia, Gait disturbance, Toe walking, Craniofacial dystonia, Laryngeal dystonia, Torticollis, ... OMIM:617284
Peroxisome Biogenesis Disorder 3B
Osteoporosis, Generalized hypotonia, Hypocholesterolemia, Hepatomegaly, Failure to thrive, Hypotonia OMIM:266510
Stüve-Wiedemann Syndrome
Scoliosis, Abnormality of the metaphysis, Elbow flexion contracture, Thickened cortex of long bon... ORPHA:3206
Richieri Costa-Da Silva Syndrome
Inability to walk, Genu valgum, Generalized bone demineralization, Beaking of vertebral bodies, D... ORPHA:3101
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dystonia, Generalized hypotonia, Ataxia, Failure to thrive, Spasticity OMIM:618276
Dominant Beta-Thalassemia
Osteoporosis, Genu valgum, Cirrhosis, Abnormality of iron homeostasis, Hypothyroidism, Hepatocell... ORPHA:231226
Coxoauricular Syndrome
Reduced bone mineral density, Short stature, Abnormality of femur morphology, Hip dislocation, Ab... ORPHA:1508
Combined Oxidative Phosphorylation Deficiency 50
Hip dysplasia, Adrenal insufficiency, Generalized dystonia, Short stature, Intrauterine growth re... OMIM:619025
Dimethylglycine Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Abnormal enzyme/coenzyme activity ORPHA:243343
Desbuquois Dysplasia 2
Broad thumb, Joint laxity, Short phalanx of finger, Cutaneous syndactyly, Pes planus, Postnatal g... OMIM:615777
Niemann-Pick Disease, Type A
Osteoporosis, Elevated circulating aspartate aminotransferase concentration, Inability to walk, H... OMIM:257200
Dent Disease 1
Hypophosphatemia, Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irreg... OMIM:300009
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteoporosis, Osteopenia, Hypogonadism OMIM:615267
Amish Lethal Microcephaly
Osteoporosis, Hepatomegaly, Limb hypertonia, Decreased skull ossification, Micrognathia, Limitati... ORPHA:99742
Xp21 Deletion Syndrome
Osteoporosis, Hypogonadotropic hypogonadism, Joint laxity, Finger clinodactyly, Neonatal hypotoni... ORPHA:261476
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Achondroplasia
Bowing of the legs, Flat acetabular roof, Narrow greater sciatic notch, Obesity, Limited elbow ex... ORPHA:15
Dystonia 17, Torsion, Autosomal Recessive
Torticollis, Focal dystonia OMIM:612406
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Scoliosis, Hypercholesterolemia, Joint hypermobility, Maturity-onset diabetes of the young, Postn... ORPHA:96184
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteoporosis, Osteolysis, Abnormal form of the vertebral bodies, Osteolysis involving bones of th... ORPHA:371428
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Parathyroid adenoma, Generalized osteoporosis, Hypercalcemia, Primary hyperpara... ORPHA:99879
Ovarian Dysgenesis 8
Osteoporosis, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... OMIM:618187
Chromosome 18P Deletion Syndrome
Dystonia, Radial deviation of finger, Clinodactyly, Small for gestational age, Short stature, Mic... OMIM:146390
Trichorhinophalangeal Syndrome, Type Iii
Coxa magna, Scoliosis, Short metatarsal, Short phalanx of finger, Short finger, Short foot, Short... OMIM:190351
Occipital Horn Syndrome
Scoliosis, Large iliac wing, Pes planus, Jaundice, Abnormality of fibula morphology, Aplastic cla... ORPHA:198
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Postnatal growth retardatio... ORPHA:96334
Pigmented Villonodular Synovitis
Abnormality of the knee, Localized osteoporosis, Abnormal hip joint morphology, Osteolysis, Joint... ORPHA:66627
Otospondylomegaepiphyseal Dysplasia
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Short neck, Micrognathi... ORPHA:1427
Pachydermoperiostosis
Osteoporosis, Scoliosis, Osteolysis, Elevated circulating growth hormone concentration, Palmoplan... ORPHA:2796
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Dystonia, Leg muscle stiffness, Spastic ataxia, Limb ataxia, Hypertonia, Diff... ORPHA:251282
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Scoliosis, Joint hypermobility, Craniosynostosis, Pes planus, Sandal gap, Shoulder dislocation, M... OMIM:245600
Leukodystrophy, Hypomyelinating, 18
Scoliosis, Dystonia, Flexion contracture, Spastic tetraplegia, Dysmetria, Failure to thrive, Prog... OMIM:618404
Analbuminemia
Osteoporosis, Hypercholesterolemia, Elevated circulating transferrin concentration, Hypoalbuminem... OMIM:616000
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Delayed puberty, Elevated circulating creatine kinase concentration, Osteop... ORPHA:264580
Mitochondrial Complex I Deficiency, Nuclear Type 17
Scoliosis, Dystonia, Generalized hypotonia, Pes planus, Gait disturbance, Ataxia, Rigidity OMIM:618239
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Slender finger, Short stature,... OMIM:609813
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Generalized hypotonia, Elevated hepatic transaminase, Joint laxity, Hepatic steatosis, Postnatal ... OMIM:617093
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteoporosis, Scoliosis, Generalized hypotonia, Hypoplasia of the ulna, Ataxia, Ankle clonus, Ost... OMIM:615398
Leukoencephalopathy, Brain Calcifications, And Cysts
Gait disturbance, Dystonia, Ataxia, Spasticity OMIM:614561
Developmental And Epileptic Encephalopathy 38
Dystonia, Hypertonia, Generalized hypotonia, Ataxia OMIM:617020
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Wide anterior fontanel, Short middle phalanx of finger, Camptoda... OMIM:113000
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Scoliosis, Joint laxity, Metaphyseal irregularity, Carpal bone hypoplasia, Broad foot, Disproport... OMIM:250420
Developmental And Epileptic Encephalopathy 7
Dystonia, Spastic tetraparesis, Generalized hypotonia, Hypotonia OMIM:613720
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Platyspondyly, Craniosynostosis, Generalized hypotonia, Overlapping toe, Short metacarpal, Thorac... OMIM:616723
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micrognathia, Elbow flexion contracture, Femoral bowing, Short neck, Short femur, Enlarged metaph... OMIM:210710
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Osteomyelitis leading to amputation due to slow healing fractures, Cirrhosis, Dystonia, Generaliz... OMIM:256810
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Writer's cramp, Paroxysmal dystonia ORPHA:163727
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Moderate generalized osteoporosis, Biconcave flattened vertebrae OMIM:166230
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Broad long bones, Recurrent fractures, Absent ossification of calvaria, Crumpled l... OMIM:166210
Galactosemia
Cirrhosis, Dystonia, Lethargy, Elevated hepatic transaminase, Decreased serum insulin-like growth... ORPHA:352
Filippi Syndrome
Dystonia, Cutaneous syndactyly, Finger clinodactyly, Postnatal growth retardation, Decreased body... OMIM:272440
Arthrogryposis, Distal, Type 4
Scoliosis, Talipes equinovarus, Camptodactyly, Deviation of the 2nd toe, Fibular deviation of toe... OMIM:609128
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Neonatal hypotonia, Slender long bones with nar... ORPHA:536467
Roifman Syndrome
Generalized hypotonia, Delayed proximal femoral epiphyseal ossification, Biconvex vertebral bodie... ORPHA:353298
Mitochondrial Complex I Deficiency, Nuclear Type 16
Scoliosis, Dystonia, Generalized hypotonia, Adrenal insufficiency, Spastic tetraplegia, Failure t... OMIM:618238
Ollier Disease
Platyspondyly, Osteolysis, Abnormal cartilage morphology, Multiple enchondromatosis, Joint stiffn... ORPHA:296
Beta-Thalassemia Major
Osteoporosis, Genu valgum, Cirrhosis, Abnormality of iron homeostasis, Hypothyroidism, Hepatocell... ORPHA:231214
Jaberi-Elahi Syndrome
Inability to walk, Joint hypermobility, Dystonia, Gait ataxia, Generalized hypotonia, Scoliosis, ... OMIM:617988
Wilson Disease
Osteoporosis, Joint hypermobility, Cirrhosis, Dystonia, Hypoparathyroidism, Hepatocellular carcin... OMIM:277900
Idiopathic Hypercalciuria
Osteoporosis, Osteopenia ORPHA:2197
Baker-Gordon Syndrome
Inability to walk, Scoliosis, Dystonia, Joint laxity, Neonatal hypotonia, Ataxia, Abnormal foot m... OMIM:618218
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short neck, Wide anterior fontanel, Decreased calvarial ossification, Preaxial polydactyly, Posta... OMIM:617925
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Dislocated radial head, Platyspondyly, Joint laxity, Metaphyseal irregularity, Carpal ... OMIM:618395
Schwartz-Jampel Syndrome
Scoliosis, Arthrogryposis multiplex congenita, Pes planus, Hypertonia, Increased bone mineral den... ORPHA:800
Orofaciodigital Syndrome Ix
Hand polydactyly, Toe syndactyly, Camptodactyly, Short stature, Short tibia OMIM:258865
Spastic Paraplegia 26, Autosomal Recessive
Spastic paraplegia, Scoliosis, Dystonia, Difficulty walking, Toe walking, Ataxia, Decreased serum... OMIM:609195
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Large iliac wing, Hypertonia, Abnormality of the metacarpal bones, Abnormality of the metaphysis,... ORPHA:2636
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Camurati-Engelmann Disease, Type 2
Hyperostosis, Delayed puberty, Thoracolumbar scoliosis, Waddling gait, Hip contracture, Knee flex... OMIM:606631
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Tibial bowing, Increased bone mi... OMIM:166740
Fibrous Dysplasia Of Bone
Scoliosis, Abnormality of tibia morphology, Elevated circulating growth hormone concentration, In... ORPHA:249
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Acromicria, Neonatal hypotonia, Postnatal growth retardation, Obesity, Clinodactyly, Small hand, ... ORPHA:254525
Hypertrichotic Osteochondrodysplasia, Cantu Type
Osteoporosis, Short hallux, Platyspondyly, Finger syndactyly, Deep plantar creases, Broad hallux ... ORPHA:1517
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Scoliosis, Osteopenia, Avascular necrosis of the capital femoral epiphysis, Short stature OMIM:611555
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short phalanx of finger, Carpal bone hypoplasia, Postnatal growth retardation, Anterior scallopin... OMIM:611717
Combined Oxidative Phosphorylation Deficiency 10
Dystonia, Generalized hypotonia, Spasticity, Hypoglycemia, Hyperalaninemia, Small for gestational... OMIM:614702
Allan-Herndon-Dudley Syndrome
Dystonia, Decreased body mass index, Neonatal hypotonia, Pes planus, Flexion contracture, Ataxia,... ORPHA:59
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Talipes equinovarus, Short neck, Rhizomelia, Camptodactyly, Postnatal growth retardati... OMIM:611209
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Dystonia, Growth delay, Ataxia, Intrauterine growth retardation, Portal hypertension, Osteopenia,... OMIM:617341
Frank-Ter Haar Syndrome
Osteoporosis, Hip dysplasia, Talipes equinovarus, Short phalanx of finger, Wide anterior fontanel... OMIM:249420
Caffey Disease
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs, Cortical irregula... OMIM:114000
Osteogenesis Imperfecta, Type Viii
Radial bowing, Scoliosis, Platyspondyly, Joint laxity, Wide anterior fontanel, Externally rotated... OMIM:610915
Intermediate Osteopetrosis
Cortical sclerosis, Erlenmeyer flask deformity of the femurs, Sandwich appearance of vertebral bo... ORPHA:210110
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Scoliosis, Dystonia, Gait ataxia, Spastic ataxia, Progressive cerebellar ataxia, Dysmetria, Spast... ORPHA:314603
Shox-Related Short Stature
Scoliosis, Genu valgum, Short neck, Ulnar radial head dislocation, Tibial bowing, Forearm undergr... ORPHA:314795
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Micrognathia, Femoral bowing, Disproportionate short-limb sho... OMIM:114290
X Small Rings
Osteoporosis, Upper limb undergrowth, Toe syndactyly, Joint laxity, Short neck, Neonatal hypotoni... ORPHA:96201
Mednik Syndrome
Decreased circulating ceruloplasmin concentration, Intrahepatic cholestasis, Decreased circulatin... ORPHA:171851
Ulnar Hemimelia
Scoliosis, Radial club hand, Short forearm, Limited shoulder movement, Duplication of phalanx of ... ORPHA:93320
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Joint laxity, Hypotonia, Hepatic steatosis, Growth delay, Drumstic... ORPHA:541423
Partington Syndrome
Camptodactyly, Flexion contracture, Lower limb spasticity, Focal dystonia, Limb dystonia OMIM:309510
Kniest Dysplasia
Joint stiffness, Delayed epiphyseal ossification, Abnormal cartilage collagen, Short neck, Verteb... ORPHA:485
Epilepsy, Nocturnal Frontal Lobe, 4
Dystonia OMIM:610353
Mitochondrial Complex I Deficiency, Nuclear Type 23
Scoliosis, Dystonia, Generalized hypotonia OMIM:618244
Gorham-Stout Disease
Osteolysis, Abnormal bone ossification, Patchy reduction of bone mineral density, Abnormality of ... ORPHA:73
Hajdu-Cheney Syndrome
Foot acroosteolysis, Osteoporosis, Genu valgum, Dislocated radial head, Short neck, Joint laxity,... OMIM:102500
Atypical Rett Syndrome
Inability to walk, Scoliosis, Dystonia, Gait ataxia, Hypotonia, Neonatal hypotonia, Growth delay,... ORPHA:3095
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Broad long bone diaphyses, ... OMIM:300106
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Diaphyseal cortical sclerosis, Increased susceptibility to fractures, O... OMIM:166260
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Clubbing of fingers, Metaphyseal chondrodysplasia, Micrognathia, Bowing of the ... OMIM:156400
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Truncal ataxia, Generalized hypotonia, Glucose intolerance, Growth delay, Impaired gluc... OMIM:614407
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Post-Traumatic Pituitary Deficiency
Panhypopituitarism, Decreased circulating ACTH level, Growth delay, Pituitary hypothyroidism, Hyp... ORPHA:95619
Developmental And Epileptic Encephalopathy 69
Inability to walk, Dystonia, Arthrogryposis multiplex congenita, Congenital contracture, Muscular... OMIM:618285
Kniest Dysplasia
Platyspondyly, Short neck, Coronal cleft vertebrae, Hypoplastic pelvis, Gait disturbance, Flatten... OMIM:156550
Thalidomide Embryopathy
Radial club hand, Preaxial hand polydactyly, Upper limb phocomelia, Insulin resistance, Split han... ORPHA:3312
2,4-Dienoyl-Coa Reductase Deficiency
Dystonia, Hypotonia, Neonatal hypotonia, Decreased plasma free carnitine, Hyperlysinemia, Failure... OMIM:616034
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Hyperbilirubinemia, Hepatomegaly, Jaundi... OMIM:235555
Fanconi-Bickel Syndrome
Hypophosphatemia, Fasting hypoglycemia, Rickets, Postprandial hyperglycemia, Hepatocellular carci... ORPHA:2088
Mucopolysaccharidosis Type 4
Scoliosis, Genu valgum, Hyperlordosis, Platyspondyly, Abnormality of epiphysis morphology, Joint ... ORPHA:582
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia, Osteopenia, Increased susceptibility to fractures, Osteoporosis OMIM:612287
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Short metatarsal, Short phalanx of finger, Broad thumb, Flared iliac wing, Spli... OMIM:609945
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Joint hypermobility, Dystonia, Generalized hypotonia, Spastic diplegia, Postnatal growth retardat... ORPHA:480907
Baralle-Macken Syndrome
Inability to walk, Dystonia, Neonatal hypotonia, Pes planus, Kyphosis, Obesity, Tapered finger, S... OMIM:619255
Blepharonasofacial Malformation Syndrome
Torsion dystonia OMIM:110050
Striatonigral Degeneration, Infantile
Dystonia, Failure to thrive, Spasticity OMIM:271930
Dyschromatosis Symmetrica Hereditaria
Torsion dystonia ORPHA:41
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Platyspondyly, Hip osteoarthritis, Irregular epiphyses, Kyphosis, Hypoplastic iliac wi... OMIM:313400
Paroxysmal Nonkinesigenic Dyskinesia 2
Paroxysmal dystonia OMIM:611147
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Dystonia, Generalized hypotonia OMIM:616763
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Fin... ORPHA:2378
Omodysplasia 1
Limited knee flexion, Limited elbow extension, Hypoplastic distal humeri, Short neck, Limited kne... OMIM:258315
Mitochondrial Myopathy With Lactic Acidosis
Dystonia, Generalized hypotonia, Hypotonia, Increased serum pyruvate, Growth delay, Toe walking, ... OMIM:251950
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteoporosis, Male hypogonadism, Generalized joint laxity, Camptodactyly, Absence of secondary se... ORPHA:432
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Spastic paraparesis, Gait disturbance, Toe walking, Bradykinesia, Spastic tetraplegia, ... OMIM:615643
Patterson Pseudoleprechaunism Syndrome
Irregular acetabular roof, Genu valgum, Small cervical vertebral bodies, Increased circulating co... OMIM:169170
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Generalized hypotonia, Joint hyperflexibility, 2-3 toe syndactyly, Recurrent fractures, Postnatal... ORPHA:2324
Dystonia 23
Axial dystonia, Gait disturbance, Writer's cramp, Torticollis, Limb dystonia OMIM:614860
Mitochondrial Complex I Deficiency, Nuclear Type 15
Dystonia, Generalized hypotonia, Kyphosis, Flexion contracture, Spastic tetraplegia, Failure to t... OMIM:618237
Citrullinemia, Type Ii, Adult-Onset
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,... OMIM:603471
Leukodystrophy, Hypomyelinating, 14
Spasticity, Growth delay, Generalized hypotonia, Dystonia OMIM:617899
Werner Syndrome
Osteoporosis, Hypogonadism, Diabetes mellitus, Short stature OMIM:277700
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Clubbing of fingers, Generalized bone demineralization, Abnormal bone ossification, Elevated hepa... ORPHA:73230
Osteogenesis Imperfecta, Type Xi
Scoliosis, Protrusio acetabuli, Joint laxity, Biconcave vertebral bodies, Coxa vara, Increased su... OMIM:610968
Celiac Disease, Susceptibility To, 1
Osteoporosis, Hypocalcemia, Elevated hepatic transaminase, Rickets, Thyroiditis, Postnatal growth... OMIM:212750
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Short phalanx of finger, Microretrognathia, Tibial dev... OMIM:268305
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Talipes equinovarus, Absent tibia, Preaxial polydactyly, Cone-shaped epiphysis, Postax... OMIM:613091
Gallbladder Disease 1
Elevated hepatic transaminase, Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Jaundice... OMIM:600803
Torsion Dystonia With Onset In Infancy
Torsion dystonia OMIM:602554
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepat... OMIM:613812
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal widening, Joint laxity, Broad tibial metaphyses, Aplasia/Hypoplasia of metatarsal bon... ORPHA:2502
Ataxia-Oculomotor Apraxia Type 4
Dystonia, Ataxia, Distal lower limb muscle weakness, Pes cavus, Kyphoscoliosis, Abnormality of to... ORPHA:459033
Gm1 Gangliosidosis
Scoliosis, Dystonia, Weight loss, Joint stiffness, Generalized dystonia, Abnormality of the metap... ORPHA:354
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Platyspondyly, Aplasia/Hypoplasia of the capital femoral epiphysis, Large tarsal bones, Short pha... OMIM:215150
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia, Osteopenia, Increased susceptibility to fractures, Osteoporosis OMIM:612286