Gene Summary

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

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

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Immunophenotyping

Panel A FCS file(s)

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

6 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
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteopenia, Enlarged epiphyses, Obesity, Osteoporosis, Short stature, Camptodactyly, Joint contra... OMIM:264010
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Failure to thrive, Short humerus, Disproportionate short-limb s... OMIM:600121
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Lumbar platyspondyly, Fibular hypoplasia, Hypoplasia of the radius, Absen... OMIM:601376
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Coronal cleft vertebrae, Short 4th metacarpal, Epiphyseal stippling, Micromelia, Limb undergrowth... OMIM:118651
Brachyolmia Type 1, Hobaek Type
Osteopenia, Short neck, Short femoral neck, Kyphosis, Intervertebral space narrowing, Disproporti... OMIM:271530
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Short neck, Joint laxity, Osteoporosis, Scoliosis, Short stature, Delayed pube... OMIM:616033
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Osteoporosis, Growth delay, Hepatomegaly, Elevated circulating creatine kinase conc... OMIM:614727
Metaphyseal Chondrodysplasia, Spahr Type
Bowing of the long bones, Genu varum, Abnormality of epiphysis morphology, Progressive leg bowing... ORPHA:2501
Spondyloepiphyseal Dysplasia Tarda
Disproportionate short-trunk short stature, Abnormality of the tibial plateaux, Scoliosis, Decrea... ORPHA:93284
Avascular Necrosis Of Femoral Head, Primary, 1
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis OMIM:608805
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Abnormal trabecular bone morphology, Sho... ORPHA:79106
Rhizomelic Dysplasia, Ain-Naz Type
Short femoral neck, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Rhizomelia, L... OMIM:619598
Pseudoachondroplasia
Genu varum, Cone-shaped epiphysis, Generalized joint laxity, Scoliosis, Irregular carpal bones, I... ORPHA:750
Isolated Glycerol Kinase Deficiency
Hyperlordosis, Osteoporosis, Elevated circulating creatine kinase concentration, Short stature, S... ORPHA:408
Multiple Epiphyseal Dysplasia With Robin Phenotype
Fibular hypoplasia, Micrognathia, Scoliosis, Genu valgum, Brachydactyly, Flat capital femoral epi... OMIM:601560
Desbuquois Dysplasia 1
Genu varum, Broad first metatarsal, Pes planus, Sandal gap, Broad femoral neck, Severe short stat... OMIM:251450
Spondyloepiphyseal Dysplasia Congenita
Osteoporosis, Disproportionate short-trunk short stature, Micrognathia, Scoliosis, Genu valgum, A... ORPHA:94068
Winchester Syndrome
Generalized osteoporosis, Kyphosis, Carpal osteolysis, Broad metacarpals, Osteolysis involving ta... OMIM:277950
Progressive Pseudorheumatoid Arthropathy Of Childhood
Generalized osteoporosis, Genu varum, Abnormal ilium morphology, Irregularity of vertebral bodies... ORPHA:1159
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Delayed puberty, Osteopenia, Osteoporosis, Hypogonadism OMIM:615270
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Short palm, Abnormality of epiphysis morphology, Pes planus, Short me... ORPHA:93351
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Valgus hand deformity, Hypoplasia of the ulna, Flexion contracture, Fi... OMIM:200700
Fibular Hemimelia
Fibular hypoplasia, Abnormal bone ossification, Limited knee flexion/extension, Short tibia, Shor... ORPHA:93323
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Osteoporosis, Recurrent fractures, Hip dislocation, Hip subluxation OMIM:256720
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Osteoporosis, Glucose intolerance, Diabetes mellitus, Hyper... OMIM:610947
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Narrow iliac wing, Osteoporosis, Irregular carpal bones, Genu valgum, Hip dislocation, Shortening... OMIM:226980
Progressive Pseudorheumatoid Dysplasia
Genu varum, Flattened epiphysis, Enlargement of the proximal femoral epiphysis, Joint stiffness, ... OMIM:208230
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Abnormality of the ver... OMIM:112910
Spondylometaphyseal Dysplasia, East African Type
Brachydactyly, Genu varum, Ovoid vertebral bodies, Metaphyseal spurs, Disproportionate short stat... OMIM:611702
Cerebrooculofacioskeletal Syndrome 1
Coxa valga, Elbow flexion contracture, Second metatarsal posteriorly placed, Rocker bottom foot, ... OMIM:214150
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Osteoporosis, Hepatomegaly, Failure to thrive, Scoliosis, Macrovesicular hepatic steatosis OMIM:618234
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Osteopenia, Hyperlipidemia, Increased hepatic glycogen content, Osteoporosis, Growt... ORPHA:369
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hip Dysplasia, Beukes Type
Kyphosis, Abnormality of the epiphysis of the femoral head, Abnormality of epiphysis morphology, ... ORPHA:2114
Bruck Syndrome 1
Kyphosis, Elbow flexion contracture, Joint laxity, Vertebral wedging, Osteoporosis, Ankle flexion... OMIM:259450
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Avascular necrosis of the capital femoral epiphysis, Joint stiffness, Hip os... OMIM:132400
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Brachydactyly, Short distal phalanx of finger, Joint hyperflexibility, Osteoporosis ORPHA:2787
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Hypogonadotropic hypogonadism, Osteopenia, Osteoporosis OMIM:615269
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Severe short stature, Platyspondyly, Irregular femoral epiphysis, Scoliosis, Postnata... OMIM:618728
Odontochondrodysplasia 1
Genu varum, Coronal cleft vertebrae, Delayed ossification of carpal bones, Osteoporosis, Micromel... OMIM:184260
Hemidystonia-Hemiatrophy Syndrome
Dystonia, Rhizomelic leg shortening, Dense calvaria, Limb dystonia, Hemiatrophy ORPHA:306741
Extensor Tendons Of Finger Anomalies
Camptodactyly of finger, Osteoporosis, Limitation of joint mobility ORPHA:3294
Insulin-Like Growth Factor I Deficiency
Clinodactyly, Decreased body weight, Osteopenia, Intrauterine growth retardation, Micrognathia, S... OMIM:608747
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Short stature, Contractures of the large joints, Postnatal growth retardation, Osteoporosis OMIM:608278
Immunodeficiency 12
Osteoporosis, Growth delay OMIM:615468
Osteogenesis Imperfecta, Type Xiii
Decreased body weight, Increased bone mineral density, Dislocated radial head, Osteoporosis, Plat... OMIM:614856
Prieto Syndrome
Clinodactyly, Coxa valga, 11 pairs of ribs, Radial deviation of finger, Osteoporosis, Generalized... OMIM:309610
Chondroectodermal Dysplasia With Night Blindness
Fractures of the long bones, Metaphyseal irregularity, Osteopenia, Talipes calcaneovarus, Equinov... ORPHA:319195
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Kyphosis, Intrauterine growth retardation, Abnormali... ORPHA:48431
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Sparse bone tr... OMIM:600785
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Coronal cleft vertebrae, Pes planus, Micrognathia, Disproportionate short stature, Scoliosis, Gen... OMIM:618363
Acromesomelic Dysplasia, Grebe Type
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Joint stiffness, Fibular hyp... ORPHA:2098
Hall-Riggs Mental Retardation Syndrome
Brachydactyly, Kyphosis, Intrauterine growth retardation, Osteoporosis, Platyspondyly, Failure to... OMIM:234250
Epiphyseal Dysplasia, Multiple, 7
Advanced ossification of carpal bones, Genu varum, Short femoral neck, Vertebral wedging, Mild sh... OMIM:617719
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Intrauterine growth retardation, Fibular hypoplasia, Radial club hand, Sa... ORPHA:1972
Forsythe-Wakeling Syndrome
Short stature, Decreased body weight, Osteoporosis, Growth delay OMIM:613606
Osteogenesis Imperfecta, Type Xxi
Pes valgus, Bowing of the legs, Bowing of the arm, Coxa valga, Recurrent fractures, Pes planus, O... OMIM:619131
Urban-Rogers-Meyer Syndrome
Brachydactyly, Toe syndactyly, Short neck, Recurrent fractures, Abnormality of epiphysis morpholo... ORPHA:3409
Stuve-Wiedemann Syndrome 1
Talipes, Osteoporosis, Micrognathia, Scoliosis, Short tibia, Hypotonia, Bowing of the long bones,... OMIM:601559
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Fibular... OMIM:201250
Slc35A2-Cdg
Spastic tetraparesis, Failure to thrive in infancy, Scoliosis, Short tibia, Aplasia/hypoplasia in... ORPHA:356961
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Diastrophic Dysplasia
Irregular epiphyses, Flattened epiphysis, Cervical kyphosis, Neonatal short-limb short stature, D... OMIM:222600
Femoral-Facial Syndrome
Abnormal sacrum morphology, Vertebral segmentation defect, Abnormality of pelvic girdle bone morp... ORPHA:1988
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandib... ORPHA:53697
Pseudopseudohypoparathyroidism
Brachydactyly, Pseudohypoparathyroidism, Short neck, Short metacarpal, Obesity, Osteoporosis, Sho... OMIM:612463
Short Stature, Dauber-Argente Type
Osteopenia, Long toe, Decreased fibular diameter, Arachnodactyly, Fasting hyperinsulinemia, Long ... OMIM:619489
Perrault Syndrome 1
Intention tremor, Osteoporosis, Pes cavus, Increased circulating gonadotropin level, Scoliosis, S... OMIM:233400
Autosomal Dominant Focal Dystonia, Dyt25 Type
Focal dystonia, Axial dystonia, Craniofacial dystonia, Limb dystonia, Laryngeal dystonia, Tortico... ORPHA:329466
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Metaphyseal irregularity, Premature osteoarthritis, Delayed ossification of ... OMIM:607078
Shashi-Pena Syndrome
Hypoglycemia, Kyphosis, Osteoporosis, Generalized hypotonia, Scoliosis OMIM:617190
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemi... OMIM:614480
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Microgn... OMIM:249700
Multiple Epiphyseal Dysplasia Type 1
Genu varum, Finger joint hypermobility, Avascular necrosis of the capital femoral epiphysis, Knee... ORPHA:93308
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Bilateral talipes equinovarus, Coxa valga, Osteoporosis, Generalized hypotonia, Finger clinodacty... ORPHA:2958
Pseudohypoparathyroidism, Type Ia
Brachydactyly, Hypothyroidism, Pseudohypoparathyroidism, Short neck, Short metacarpal, Obesity, O... OMIM:103580
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Flat capital femoral epiphysis, Wide capital femoral epiphyses, Patellar hypoplasia, Pes planus, ... OMIM:147891
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Kyphosis, Abnorm... ORPHA:3344
Hypergonadotropic Hypogonadism-Cataract Syndrome
Recurrent fractures, Delayed puberty, Osteoporosis, Secondary growth hormone deficiency, Short st... ORPHA:2410
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Delayed puberty, Osteopenia, Osteoporosis OMIM:615271
Pseudohypoparathyroidism, Type Ic
Brachydactyly, Hypothyroidism, Pseudohypoparathyroidism, Short neck, Short metacarpal, Obesity, O... OMIM:612462
Hypochondroplasia
Brachydactyly, Genu varum, Abnormality of pelvic girdle bone morphology, Flared metaphysis, Limit... OMIM:146000
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Hypercholesterolemia, Decreased liver function, Decreased circulating cerulopl... OMIM:616829
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Clinodactyly, Hypoglycemia, Insulin resistance, Small for gestational age, Intrauterine growth re... ORPHA:73272
Pseudoachondroplasia
Genu varum, Flared femoral metaphysis, Scoliosis, Irregular carpal bones, Metaphyseal widening, F... OMIM:177170
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Spars... OMIM:600081
Glycogen Storage Disease Vi
Hyperlipidemia, Hypercholesterolemia, Increased hepatic glycogen content, Hepatomegaly, Elevated ... OMIM:232700
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Warburg Micro Syndrome 1
Osteoporosis, Micrognathia, Joint hypermobility, Failure to thrive, Short stature, Hypotonia, Kyp... OMIM:600118
Hemochromatosis Type 2
Increased circulating ferritin concentration, Osteoporosis, Elevated transferrin saturation, Abno... ORPHA:79230
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Recurrent fractures, Severe short stature, Osteoporosis, Platyspondyly, Scoliosis, Fe... OMIM:126550
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Brachydactyly, Abnormality of pelvic girdle bone morphology, Abnormal form of the vertebral bodie... ORPHA:2370
Bruck Syndrome
Bowing of the long bones, Joint stiffness, Recurrent fractures, Kyphosis, Osteoporosis, Platyspon... ORPHA:2771
Osteogenesis Imperfecta, Type Xii
Generalized osteoporosis, Osteoporosis, Micrognathia, Short stature, Scoliosis OMIM:613849
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the vertebral column, Severe short stature, Broad femoral neck, Disproportionate s... ORPHA:99642
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Dislocated radial head, Rhizomelia, Micro... ORPHA:166016
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Kyphosis, Osteoporosis, Platyspondyly ORPHA:2786
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Irregularity of vertebral bodies, Short femoral neck, Flared femoral metaphysis, Broad femoral ne... OMIM:609324
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Neonatal short-limb short stature, Hypoplasia of the radius, Pseudoarthrosis, Mesomelic short sta... OMIM:156230
Geroderma Osteodysplastica
Talipes, Recurrent fractures, Abnormality of epiphysis morphology, Vertebral compression fracture... ORPHA:2078
Vitamin D-Dependent Rickets, Type 3
Genu varum, Bowing of the legs, Osteopenia, Hypocalcemia, Growth delay, Metaphyseal cupping, Flar... OMIM:619073
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Abnormal lower limb bone morphology, Joint laxity, Osteoporosis, Crumpled long bones,... ORPHA:2788
Atelosteogenesis Type I
Brachydactyly, Coronal cleft vertebrae, Absent or minimally ossified vertebral bodies, Rhizomelia... ORPHA:1190
Metatropic Dysplasia
Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral metaphysis, Con... OMIM:156530
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Abnormal form of the vert... ORPHA:1802
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short stature, Cone-shaped epiphysis, Osteoporosis, Platyspondyly ORPHA:71267
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Flexion contracture, Small for gestational age, Multiple prenatal fractures, Short ri... OMIM:616897
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender long bones with narrow diaphyses, Osteopenia, Intrauterine growth retardation, Small for ... ORPHA:50811
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Increased bone density with cystic changes, Oste... OMIM:136300
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Short long bo... OMIM:250460
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Hip osteoarthritis, Brachytelomesophalangy, Knee osteoarthritis, Limitation of joint ... ORPHA:2619
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Broad tibial metaphyses, Short neck, Short femoral neck, I... OMIM:271630
Congenital Bile Acid Synthesis Defect Type 1
Osteoporosis, Hepatomegaly, Jaundice, Splenomegaly, Failure to thrive, Biliary tract abnormality,... ORPHA:79301
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Premature Ovarian Failure 2B
Delayed puberty, Osteoporosis OMIM:300604
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Recurrent fractures, Joint laxity, Osteoporosis, Short stature, Epiphyseal dysplasia OMIM:248010
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypotonia, Fibular bowing, Rickets, Bowing of the legs, Generalized hypotonia, Subperiosteal bone... OMIM:264700
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Delayed ossification of carpal bones, Pes planus, Hypoplastic iliac wing, Mesomelic arm shortenin... OMIM:609616
Dystonia 33
Dystonia, Axial dystonia, Limb dystonia, Pes cavus, Spasticity OMIM:619687
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Genu varum, Decreased hip abduction, Short femoral neck, Flared iliac wing, Flared humeral metaph... OMIM:183849
Osteoporosis
Osteoporosis OMIM:166710
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Short ribs, Sandal gap, Rhizomelia, Hypocalcemia, Hypoplasia of the ra... OMIM:607143
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Epiphyseal Dysplasia, Multiple, 4
Brachydactyly, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Short metacarpal, ... OMIM:226900
Sialidosis Type 2
Flexion contracture, Kyphosis, Osteoporosis, Splenomegaly, Hepatomegaly, Generalized hypotonia, S... ORPHA:87876
Spondylometaphyseal Dysplasia, Kozlowski Type
Genu varum, Abnormality of the vertebral column, Abnormal ilium morphology, Coronal cleft vertebr... ORPHA:93314
Pyle Disease
Absent paranasal sinuses, Hypoplastic frontal sinuses, Metaphyseal widening, Platyspondyly, Limit... OMIM:265900
Paget Disease Of Bone 5, Juvenile-Onset
Bowing of the long bones, Osteopenia, Increased bone mineral density, Recurrent fractures, Kyphos... OMIM:239000
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the vertebral column, Abnormal ilium morphology, Severe short stature, Disproporti... ORPHA:93316
Monosomy 5P
Finger syndactyly, Recurrent fractures, Short neck, Intrauterine growth retardation, Scoliosis, M... ORPHA:281
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Elevated circulating alanine aminotra... OMIM:619658
Mucopolysaccharidosis, Type Iva
Coxa valga, Ovoid vertebral bodies, Kyphosis, Joint laxity, Hypoplasia of the odontoid process, C... OMIM:253000
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short 5th metacarpal, Multiple small vertebral fractures, Platyspondyly, Flared metaphysis, Short... OMIM:156510
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Brachydactyly, Joint stiffness, Short greater sciatic notch, Kyphosis, ... ORPHA:1860
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatic steatosis, Flexion contracture, Kyphosis, Insulin resistance, Osteoporosis, Hepatomegaly,... OMIM:615381
Mucopolysaccharidosis, Type Ivb
Coxa valga, Ovoid vertebral bodies, Kyphosis, Joint laxity, Hypoplasia of the odontoid process, C... OMIM:253010
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Metaphyseal sclerosis, Broad femoral neck, Distal tibial bowing, Scoliosis, Metaphyse... OMIM:156500
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flat capital femoral epiphysis, Flattened epiphysis, Moderately short stature, Osteopenia, Flexio... ORPHA:157965
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Small for gestational age, Osteoporosis, Growth delay, Short... OMIM:307030
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Portal hypertension, Increased serum bile acid concentration, Splenomegaly, Hepa... OMIM:616278
Atelosteogenesis Type Ii
Cervical kyphosis, Sandal gap, Rhizomelic arm shortening, Micrognathia, Micromelia, Ulnar deviati... ORPHA:56304
Osteogenesis Imperfecta, Type Iii
Neonatal short-limb short stature, Decreased calvarial ossification, Kyphosis, Recurrent fracture... OMIM:259420
Geroderma Osteodysplasticum
Osteopenia, Recurrent fractures, Vertebral compression fracture, Severe short stature, Tibial bow... OMIM:231070
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Scoliosis, Delayed patellar ossification, Hypotonia, Long distal phalanx of finger, Genu valgum, ... OMIM:603546
Juvenile Paget Disease
Cranial hyperostosis, Bowing of the long bones, Recurrent fractures, Osteoporosis, Hyperuricemia,... ORPHA:2801
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Hypoplasia of the ulna, Fibular hypoplasia, Short stature, Short tibia, Short femur... OMIM:612447
Dyssegmental Dysplasia With Glaucoma
Broad long bones, Platyspondyly, Flared metaphysis, Micromelia, Short stature, Wide anterior font... OMIM:601561
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic platyspondyly, Metaphyseal spurs, Low back pain, Pedal edema, Arthralgia of the hip, Gen... ORPHA:166011
Osteogenesis Imperfecta, Type Xvii
Vertebral compression fracture, Osteoporosis, Platyspondyly, Scoliosis, Short stature, Hypotonia,... OMIM:616507
Dystonia 30
Dystonia, Leg dystonia, Torticollis, Writer's cramp, Arm dystonia, Oromandibular dystonia OMIM:619291
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Dystonia, Obesity, Lower limb spasticity, Lumbar hyperlordosis, Scoliosis, Short statur... OMIM:616756
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, Talipes, 11 pairs of ribs, Thoracic platyspondyly,... OMIM:108720
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Osteomalacia, Rickets, Hypocalcemia, Generalized hypotonia, Short stature, Subperiost... ORPHA:289157
Vitamin D-Dependent Rickets, Type 2A
Hypotonia, Fibular bowing, Rickets, Bowing of the legs, Generalized hypotonia, Subperiosteal bone... OMIM:277440
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Osteoporosis, Abnormality of iron homeostasis, Diabetes mellitus, Increased circu... ORPHA:465508
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Clinodactyly, Intrauterine growth retardation, Hypercholesterolemia, Obesity, Micrognathia, Joint... ORPHA:254531
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia, Broad hallux, Arachnodactyly, Long hallux, Scoliosis, Finger clinodactyly, Epiphyseal... OMIM:615923
African Iron Overload
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Hepatic bridgin... ORPHA:139507
Cantu Syndrome
Large for gestational age, Coxa valga, Short neck, Broad first metatarsal, Ovoid vertebral bodies... OMIM:239850
Cranioectodermal Dysplasia
Brachydactyly, Craniosynostosis, Finger syndactyly, Rhizomelia, Clinodactyly of the 5th finger, O... ORPHA:1515
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Severe short stature, Squared iliac bones, Lateral femoral bowi... OMIM:112350
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Severe short stature, Narrow vertebral interpedicular distance, Disproportionate shor... ORPHA:93352
Ehlers-Danlos Syndrome, Classic-Like, 2
Shoulder dislocation, Thoracic scoliosis, Short neck, Pes planus, Squared iliac bones, Osteoporos... OMIM:618000
Hypophosphatemic Rickets, X-Linked Dominant
Bowing of the legs, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Trape... OMIM:307800
Rhizomelic Chondrodysplasia Punctata, Type 2
Abnormality of pelvic girdle bone morphology, Osteopenia, Flexion contracture, Rhizomelia, Microg... OMIM:222765
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Elevated circulatin... OMIM:619232
Mycetoma
Structural foot deformity, Vertebral compression fracture, Abnormality of forearm bone, Painless ... ORPHA:2583
Hyaline Fibromatosis Syndrome
Osteolysis, Osteopenia, Osteoporosis, Progressive flexion contractures OMIM:228600
Dystonia 25
Torticollis, Laryngeal dystonia, Lingual dystonia, Limb dystonia OMIM:615073
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Spars... OMIM:241530
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Genu varum, Patellar hypoplasia, Short femoral neck, Broad femoral neck, Generalized joint laxity... OMIM:609325
Dystonia 4, Torsion, Autosomal Dominant
Torsion dystonia, Generalized dystonia, Slender build, Limb dystonia, Torticollis OMIM:128101
Pelviscapular Dysplasia
Brachydactyly, Short neck, Mesomelic leg shortening, Hypoplastic scapulae, Congenital hip disloca... ORPHA:93333
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Elevated transferrin sa... OMIM:613313
Mu-Heavy Chain Disease
Osteoporosis, Hepatomegaly, Splenomegaly, Osteolysis, Weight loss ORPHA:100024
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Osteoporosis OMIM:233300
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Vertebral hypoplasia, Narrow vertebral interpedicular distance, Micromelia, Dispropor... OMIM:602557
Infantile Systemic Hyalinosis
Brachydactyly, Osteopenia, Short palm, Joint stiffness, Recurrent fractures, Short neck, Severe s... ORPHA:2176
Schwartz-Jampel Syndrome, Type 1
Coronal cleft vertebrae, Pes planus, Osteoporosis, Micrognathia, Abnormality of femoral epiphysis... OMIM:255800
Orofaciodigital Syndrome Viii
Short stature, Syndactyly, Short tibia, Polydactyly OMIM:300484
Mucolipidosis Type Iii
Abnormal hip bone morphology, Hypoplastic inferior ilia, Joint stiffness, Abnormal form of the ve... ORPHA:577
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Coxa valga, Joint stiffness, Severe short stature, Osteoporosis, Micrognathia, Osteom... ORPHA:1901
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal hip bone morphology, Abnormality of epiphysis morphology, Tapered finger, Hyperlordosis,... ORPHA:970
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Abnormal foot morphology, Short stature, Fibular aplasia, Talipes equinov... OMIM:605274
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Short neck, Preaxial polydactyly, Mesomelic leg shortening, Oligod... ORPHA:2756
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Narrow iliac wing, Bowing of the legs, Hypoplastic pubic bone, Ovoid vertebr... OMIM:608728
Classic Galactosemia
Hypoglycemia, Hepatic failure, Dystonia, Action tremor, Osteoporosis, Hepatomegaly, Jaundice, Pos... ORPHA:79239
Morgagni-Stewart-Morel Syndrome
Hypothyroidism, Action tremor, Hypercholesterolemia, Abnormality of the thyroid gland, Obesity, O... ORPHA:77296
Cholestasis, Intrahepatic, Of Pregnancy, 1
Abnormal liver function tests during pregnancy, Increased serum bile acid concentration during pr... OMIM:147480
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatic failure, Cholestasis, Hepatocellular necros... OMIM:231100
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Dystonia, Central hypothyroidism, Short stature, Postnatal growth retardation, Hypo... OMIM:616113
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Multiple joint contractures, Oromandibular dystonia, Tremor, Hypermanganesemia, Scolios... ORPHA:521406
Hyperzincemia With Functional Zinc Depletion
Increased serum zinc, Hepatomegaly OMIM:601979
Primary Dystonia, Dyt27 Type
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... ORPHA:464440
Microcephaly-Micromelia Syndrome
Craniosynostosis, Short neck, Intrauterine growth retardation, Absent radius, Oligodactyly, Micro... OMIM:251230
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Carpal synostosis, Pes planus, 11 pairs of ribs, Severe short stature, Osteoporosis, Micrognathia... OMIM:271640
Menkes Disease
Intrauterine growth retardation, Joint laxity, Metaphyseal spurs, Osteoporosis, Decreased circula... OMIM:309400
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Jau... OMIM:616860
Acrofacial Dysostosis Syndrome Of Rodriguez
Clinodactyly, Fibular hypoplasia, 11 pairs of ribs, Triphalangeal thumb, Oligodactyly, Micrognath... OMIM:201170
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated hepatic transaminase, Increased erythrocyte protoporphyrin concentration OMIM:300752
Methylcobalamin Deficiency Type Cble
Clinodactyly, Hyperhomocystinemia, Abnormality of the liver, Intrauterine growth retardation, Ost... ORPHA:2169
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Severe short stature, Osteoporosis OMIM:204730
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Kyphosis, Osteoporosis, Primary hypercortisolism, Truncal obesity, Paradoxical increa... OMIM:610475
Rothmund-Thomson Syndrome, Type 1
Short stature, Hypothyroidism, Osteoporosis, Male hypogonadism OMIM:618625
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Increased laxity of ankles, Hip dysplasi... ORPHA:93322
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Generalized dystonia, Focal dystonia, Craniofacial dys... ORPHA:98807
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Osteoporosis, Hyperglycemia, ... OMIM:615954
Multicentric Osteolysis, Nodulosis, And Arthropathy
Metatarsal osteolysis, Carpal osteolysis, Pes planus, Metacarpal osteolysis, Osteoporosis, Microg... OMIM:259600
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia, Hepatomegaly, Jaundice, Elevated hep... OMIM:214900
Dystonia 6, Torsion
Torsion dystonia, Limb dystonia, Laryngeal dystonia, Torticollis, Lingual dystonia, Writer's cram... OMIM:602629
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Osteoporosis, Central adrenal insufficiency, Decreased circulating T4 lev... ORPHA:98754
Familial Hyperprolactinemia
Female hypogonadism, Osteopenia, Osteoporosis ORPHA:397685
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Osteopenia, Hyperinsulinemia, Osteoporosis, Increased... ORPHA:785
Combined Oxidative Phosphorylation Deficiency 39
Dystonia, Flexion contracture, Intrauterine growth retardation, Spasticity, Arthrogryposis multip... OMIM:618397
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Premature osteoarthritis, Osteopenia, Kyphosis, Joint laxity, Mild short stature, Increased susce... OMIM:130060
Biliary Atresia, Extrahepatic
Bile duct proliferation, Atretic gallbladder, Hepatomegaly, Jaundice, Hyperbilirubinemia, Elevate... OMIM:210500
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Hypoplastic pubic bone, Delayed ossificati... ORPHA:93346
Gracile Syndrome
Increased circulating ferritin concentration, Hepatic steatosis, Cholestasis, Elevated hepatic ir... ORPHA:53693
Pontocerebellar Hypoplasia, Type 2E
Flexion contracture, Opisthotonus, Spastic tetraplegia, Osteoporosis, Micrognathia, Failure to th... OMIM:615851
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Osteoporosis, Central adrenal insufficiency, Decreased circulating T4 lev... ORPHA:98793
Lichtenstein Syndrome
Metacarpophalangeal joint contracture, Osteoporosis, Increased susceptibility to fractures, Pes c... OMIM:246550
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Abnormal trabecular bone morphology, Abnormal foot morphology, Upper limb... ORPHA:75508
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Knee osteoarthritis, Tibial bowing, Pe... ORPHA:93356
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Pes planus, Clinodactyly of the 5th finger, Cone-shaped epiphysis, ... ORPHA:457395
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormality of the vertebral column, Abnormal pelvis bone morpholog... ORPHA:239
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Clinodactyly, Vertebral hypoplasia, Abnormal bone ossification, Disproportionate shor... ORPHA:93315
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Osteoporosis, Central adrenal insufficiency, Decreased circulating T4 lev... ORPHA:177904
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Bowing of the long bones, Osteopenia, Metaphyseal sclerosis, Short femoral neck, Intrauterine gro... OMIM:612199
Ivic Syndrome
Absent thumb, Carpal synostosis, Hypoplasia of the ulna, Limited interphalangeal movement, Upper ... OMIM:147750
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Kyphosis, Decreased circulating dehydroepiandrosterone concentration, Increased serum... OMIM:610489
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Osteoporosis, Central adrenal insufficiency, Decreased circulating T4 lev... ORPHA:177901
Hypophosphatemic Rickets, X-Linked Recessive
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Spars... OMIM:300554
Axial Spondylometaphyseal Dysplasia
Acromesomelia, Abnormal ilium morphology, Delayed ossification of carpal bones, Aplasia/Hypoplasi... ORPHA:168549
Primary Dystonia, Dyt17 Type
Torticollis, Craniofacial dystonia, Generalized dystonia ORPHA:370103
Spondylo-Ocular Syndrome
Thoracic kyphosis, Short neck, Facial hypotonia, Pes planus, Osteoporosis, Disproportionate short... ORPHA:85194
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Acromicria, Abnormality of forearm bone, Broad femoral neck, Short thumb, Dela... ORPHA:93307
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Obesity, Osteoporosis, Diabetes mellitus OMIM:610628
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Hepatomegaly, Generalized hypotonia, Failure to thrive, Diabetes mellitus, Hypotoni... OMIM:560000
Acheiropody
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... OMIM:200500
Osteogenesis Imperfecta, Type Xix
Osteopenia, Recurrent fractures, Rhizomelia, Vertebral wedging, Severe short stature, Scoliosis, ... OMIM:301014
Prader-Willi Syndrome
Clinodactyly, Acromicria, Failure to thrive in infancy, Osteoporosis, Scoliosis, Small hand, Genu... OMIM:176270
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Brachydactyly, Rhizomelia, Hypoplastic scapulae, Micrognathia, Micromelia, Dumbbell-shaped long b... ORPHA:440354
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Joint stiffness, Ovoid verteb... OMIM:608940
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Generalized osteoporosis, Hyperhomocystinemia, Hepatic steatosis, Hypermethioninemia, Osteoporosi... OMIM:236200
Temple Syndrome
Small for gestational age, Clinodactyly of the 5th finger, Recurrent hypoglycemia, Obesity, Scoli... ORPHA:254516
Progeria-Short Stature-Pigmented Nevi Syndrome
Brachydactyly, Generalized osteoporosis, Thoracic scoliosis, Hepatic steatosis, Osteopenia, Multi... ORPHA:2959
Duchenne And Becker Muscular Dystrophy
Slender long bone, Joint stiffness, Hyperlordosis, Elevated circulating creatine kinase concentra... ORPHA:262
Achondrogenesis Type 2
Delayed proximal femoral epiphyseal ossification, Short ribs, Delayed vertebral ossification, Del... ORPHA:93296
Gabriele-De Vries Syndrome
Dystonia, Intrauterine growth retardation, Joint laxity, Long fingers, Tremor OMIM:617557
Autosomal Recessive Kenny-Caffey Syndrome
Thin long bone diaphyses, Hypocalcemic seizures, Intrauterine growth retardation, Hypocalcemia, D... ORPHA:93324
Nail-Patella Syndrome
Pes planus, Clinodactyly of the 5th finger, Osteoporosis, Abnormal patella morphology, Patellar d... ORPHA:2614
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Syndactyly OMIM:246570
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Metaphyseal Acroscyphodysplasia
Genu varum, Cone-shaped metacarpal epiphyses, Severe short stature, Micromelia, Scoliosis, Short ... OMIM:250215
Dystonia, Early-Onset, And/Or Spastic Paraplegia
Laryngeal dystonia, Dystonia, Spastic paraplegia OMIM:619681
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... ORPHA:2235
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Lumbar platyspondyly, Short ribs, Thoracic platyspondyly, Squared iliac bones, Bea... OMIM:618961
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Osteoporosis, Spleno... OMIM:235200
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Generalized osteoporosis, Recurrent fractures, Vertebral compression fr... OMIM:617952
Atelosteogenesis Type Iii
Coronal cleft vertebrae, Vertebral hypoplasia, Absent humerus, Absent radius, Laryngotracheomalac... ORPHA:56305
Sim1-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Osteoporosis, Scoliosis, Small hand, Absence of pubertal development, Hip... ORPHA:398079
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Kyphosis, Macronodular adrenal hyperplasia, Osteoporosis, Primary hypercortisolism, T... OMIM:219080
Lipodystrophy, Congenital Generalized, Type 4
Hepatic steatosis, Osteopenia, Flexion contracture, Hyperinsulinemia, Insulin resistance, Osteopo... OMIM:613327
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hypocalcemia, Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive, Short stature... ORPHA:172
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Abnormality of limb bone morphology, Abnormality of epiphysis morphology, Symmetric p... ORPHA:85435
Osteogenesis Imperfecta, Type V
Hyperextensibility at elbow, Abnormality of pelvic girdle bone morphology, Osteopenia, Recurrent ... OMIM:610967
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Genu varum, Generalized joint laxity, Scoliosis, Fragmented epiphyses, Genu valgum, Hip dislocati... ORPHA:93360
Kyphomelic Dysplasia
Short metacarpal, Tibial bowing, Dumbbell-shaped humerus, Micrognathia, Platyspondyly, Micromelia... OMIM:211350
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Osteoporosis, Primary hypercortisolism, Diabetes mellitus, Adrenal hyperplasia, Incre... OMIM:615830
Prader-Willi-Like Syndrome
Central hypothyroidism, Osteoporosis, Central adrenal insufficiency, Decreased circulating T4 lev... ORPHA:398073
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender long bones with narrow diaphyses, Osteopenia, Intrauterine growth retardation, Short femo... OMIM:608154
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Narrow iliac wing, Slender finger, Flattened epiphysis, Metaphyseal irregularity, Proportionate s... OMIM:601668
Dystonia, Dopa-Responsive
Transient hyperphenylalaninemia, Dystonia, Resting tremor, Cogwheel rigidity, Pes cavus, Scoliosi... OMIM:128230
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Kyphosis, Vertebral compression fracture, Obesity, Osteoporosis, Pituitary adenoma, ... OMIM:219090
Macs Syndrome
Brachydactyly, Decreased body weight, Pes planus, Osteoporosis, Joint hypermobility, Scoliosis, S... OMIM:613075
Congenital Arthrogryposis With Anterior Horn Cell Disease
Short neck, Kyphosis, Areflexia of lower limbs, Dystonia, Rocker bottom foot, Micrognathia, Gener... OMIM:611890
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed ossification of carpal bones, Disproportionate short-trunk short stature, Scoliosis, Narr... OMIM:184252
Bile Acid Synthesis Defect, Congenital, 4
Hepatic failure, Hepatomegaly, Intrahepatic cholestasis, Giant cell hepatitis, Prolonged neonatal... OMIM:214950
Gm1-Gangliosidosis, Type Iii
Kyphosis, Dystonia, Flared iliac wing, Anterior beaking of lumbar vertebrae, Hypoplastic acetabul... OMIM:230650
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Neonatal short-limb short stature, Hypoplastic ischia, Hypoplastic pubic bone, Short neck, Short ... OMIM:151210
Rhyns Syndrome
Abnormality of the liver, Osteopenia, Hypopituitarism, Abnormality of long bone morphology, Abnor... ORPHA:140976
Beta-Thalassemia Intermedia
Cholelithiasis, Adrenal insufficiency, Hypothyroidism, Abnormality of the liver, Osteopenia, Hepa... ORPHA:231222
Slc39A8-Cdg
Abnormal blood zinc concentration, Craniosynostosis, Osteopenia, Disproportionate short-limb shor... ORPHA:468699
Lopes-Maciel-Rodan Syndrome
Hypertonia, Kyphosis, Dystonia, Tremor, Scoliosis, Spasticity, Small hand, Short foot, Ankle clonus OMIM:617435
Cleidocranial Dysplasia
Abnormal thumb morphology, Clinodactyly of the 5th finger, Tapered finger, Osteoporosis, Decrease... ORPHA:1452
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Scoliosis, Short stature,... OMIM:615066
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Camptodactyly, Osteoporosis, Growth delay, Syndactyly OMIM:616006
Aromatase Deficiency
Hepatic steatosis, Osteopenia, Insulin resistance, Hyperlipidemia, Obesity, Osteoporosis, Genu va... ORPHA:91
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Metaphyseal irregularity, Hypoplastic pubic bone, Pes planus, Delayed pubic bone o... OMIM:184250
Stüve-Wiedemann Syndrome
Hypothyroidism, Osteoporosis, Micromelia, Scoliosis, Hypotonia, Metaphyseal widening, Genu valgum... ORPHA:3206
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Genu varum, Craniosynostosis, Increased bone mineral density, Abnormal trabecul... ORPHA:289176
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Clinodactyly, Hypogonadotropic hypogonadism, Osteoporosis OMIM:614838
Aicardi-Goutieres Syndrome 9
Hypothyroidism, Spastic tetraparesis, Dystonia, Osteoporosis, Scoliosis, Intrauterine growth reta... OMIM:619487
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Dystonia, Intrauterine growth retardation, Spastic tetraplegia OMIM:251280
Peroxisome Biogenesis Disorder 3B
Osteoporosis, Hepatomegaly, Generalized hypotonia, Failure to thrive, Hypotonia, Hypocholesterolemia OMIM:266510
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Short femur, Amelia, Scoliosis OMIM:601357
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Fibular hypoplasia, Sandal gap, Clinodactyly of the 5th finger, Microg... ORPHA:1106
Dyggve-Melchior-Clausen Disease
Genu varum, Pes planus, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Disproportiona... OMIM:223800
Achondroplasia
Hip joint hypermobility, Disproportionate short stature, Spinal canal stenosis, Narrow greater sc... ORPHA:15
Acromicric Dysplasia
Ovoid vertebral bodies, Short palm, Short metacarpal, Severe short stature, Cone-shaped epiphysis... OMIM:102370
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Micrognathia, Generalized osteosclerosis, Micromelia, Limb undergrowth, ... ORPHA:1423
Camptodactyly Syndrome, Guadalajara, Type Ii
Brachydactyly, Osteopenia, Patellar hypoplasia, Short neck, Intrauterine growth retardation, Shor... OMIM:211920
Dyschondrosteosis And Nephritis
Short forearm, Ulnar bowing, Mesomelic short stature, Short tibia, Radial bowing OMIM:127350
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thoracic kyphosis, Short 5th metacarpal, Short 4th metacarpal, Pes planus, Rhizomelia, Platyspond... OMIM:619638
Amish Lethal Microcephaly
Osteoporosis, Hepatomegaly, Decreased skull ossification, Micrognathia, Limb hypertonia, Hypotoni... ORPHA:99742
Dominant Beta-Thalassemia
Bowing of the long bones, Adrenal insufficiency, Hypothyroidism, Hypersplenism, Hepatosplenomegal... ORPHA:231226
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Clinodactyly, Intrauterine growth retardation, Small for gestational age, Hypercholesterolemia, O... ORPHA:96184
Xp21 Deletion Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Joint laxity... ORPHA:261476
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteopenia, Osteoporosis, Hypogonadism OMIM:615267
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, 3-4 finger... OMIM:619217
Hypocalcemic Vitamin D-Resistant Rickets
Genu varum, Abnormal hip bone morphology, Recurrent fractures, Abnormal form of the vertebral bod... ORPHA:93160
Wilson Disease
Glycosuria, Hepatic failure, Dystonia, Osteoarthritis, Osteoporosis, Hepatomegaly, Joint hypermob... OMIM:277900
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Flat capital femoral epiphysis, Flattened epiphysis, Moderately short stature, Osteopenia, Short ... OMIM:612350
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Macrovesicular hepatic steatosis, Dystonia, Painl... OMIM:256810
Dent Disease 1
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Glyco... OMIM:300009
Coxoauricular Syndrome
Abnormality of pelvic girdle bone morphology, Abnormality of femur morphology, Micromelia, Short ... ORPHA:1508
Prader-Willi Syndrome
Central hypothyroidism, Osteoporosis, Central adrenal insufficiency, Scoliosis, Diabetes mellitus... ORPHA:739
Ovarian Dysgenesis 8
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618187
Familial Isolated Hyperparathyroidism
Generalized osteoporosis, Osteopenia, Hypercalcemia, Infantile hypercalcemia, Primary hyperparath... ORPHA:99879
Propionic Acidemia
Hypoglycemia, Dystonia, Osteoporosis, Hepatomegaly, Limb hypertonia, Short stature, Failure to th... OMIM:606054
19P13.3 Microduplication Syndrome
Clinodactyly, Intrauterine growth retardation, Osteoporosis, Growth delay, Micrognathia, Pes cavu... ORPHA:447980
Ollier Disease
Joint stiffness, Multiple enchondromatosis, Platyspondyly, Micromelia, Precocious puberty, Abnorm... ORPHA:296
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Abnormal form of the vertebral bodies, Arthritis, Carpal osteolysis, Osteolysis invol... ORPHA:371428
Trichorhinophalangeal Syndrome, Type Iii
Brachydactyly, Cone-shaped epiphyses of the middle phalanges of the hand, Coxa magna, Osteopenia,... OMIM:190351
Desbuquois Dysplasia 2
Genu varum, Pes planus, Severe short stature, Hypotonia, Metaphyseal widening, Broad thumb, Hip d... OMIM:615777
Severe Intellectual Disability And Progressive Spastic Paraplegia
Progressive spastic paraplegia, Dystonia, Facial hypotonia, Pes planus, Spastic dysarthria, Gener... ORPHA:280763
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Shoulder dislocation, Generalized osteoporosis, Pes planus, 11 pairs of ribs, Sandal gap, Osteopo... OMIM:245600
Magel2-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Osteoporosis, Scoliosis, Small hand, Absence of pubertal development, Hip... ORPHA:398069
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypoglycemia, Cholestasis, Osteoporosis, Portal fibrosis, Hypotonia, Fasting hypoglycemia, Short ... ORPHA:264580
Tenosynovial Giant Cell Tumor
Joint stiffness, Abnormality of the ankles, Abnormal hip joint morphology, Localized osteoporosis... ORPHA:66627
Spastic Paraplegia 47, Autosomal Recessive
Flexion contracture, Dystonia, Pes planus, Spastic paraplegia, Short stature, Neonatal hypotonia,... OMIM:614066
Idiopathic Juvenile Osteoporosis
Vertebral compression fracture, Kyphosis, Osteoporosis, Recurrent fractures ORPHA:85193
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Fasting hypoglycemia, Cirrhosis, Hypercholesterolemia, Recurrent hypoglycem... ORPHA:79240
Dystonia 17, Torsion, Autosomal Recessive
Torticollis, Focal dystonia OMIM:612406
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Pachydermoperiostosis
Genu varum, Palmoplantar keratoderma, Abnormality of epiphysis morphology, Arthritis, Limitation ... ORPHA:2796
Combined Oxidative Phosphorylation Deficiency 50
Adrenal insufficiency, Intrauterine growth retardation, Generalized dystonia, Short stature, Hip ... OMIM:619025
Chromosome 18P Deletion Syndrome
Clinodactyly, Dystonia, Small for gestational age, Micrognathia, Short stature, Radial deviation ... OMIM:146390
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Osteoporosis, Hypoalbuminem... OMIM:616000
Niemann-Pick Disease, Type A
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:257200
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Osteoarthritis, Pe... OMIM:602111
Occipital Horn Syndrome
Cholestasis, Pes planus, Osteoporosis, Osteomalacia, Scoliosis, Hepatitis, Hypotonia, Genu valgum... ORPHA:198
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Bowing of the legs, Hypophosphatemic rickets, Growth delay, Osteomalacia, Short stature, Increase... ORPHA:157215
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Intrauterine growth retardation, Joint laxity, Decreased liver function, Gener... OMIM:617093
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Long foot, 11 pairs of ribs, Micrognathia, Micromelia, Disproportionate short stature, Large hand... OMIM:210710
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Lumbar scoliosis, Contracture of the proximal interphalangeal joint of the 2nd finger, Central hy... OMIM:300998
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Anterior atlanto-occipital dislocation, Tracheomalacia, Osteoporosis, Micrognathia, Scoliosis, Ha... ORPHA:536467
Primary Pigmented Nodular Adrenocortical Disease
Hepatic steatosis, Hyperlipidemia, Abdominal obesity, Increased urinary cortisol level, Osteoporo... ORPHA:189439
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Sclerosing cholangitis, Portal hypertension, Increased serum bile aci... OMIM:619662
Arthrogryposis, Distal, Type 4
2-5 finger cutaneous syndactyly, Distal arthrogryposis, Osteopenia, Kyphosis, Equinovarus deformi... OMIM:609128
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Narrow iliac wing, Genu varum, Scoliosis, Metaphyseal widening, Genu valgum, Brachydactyly, Short... OMIM:250420
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Moderate generalized osteoporosis, Biconcave flattened vertebrae OMIM:166230
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteopenia, Osteoporosis, Generalized hypotonia, Spasticity, Tremor ORPHA:529665
Otospondylomegaepiphyseal Dysplasia
Coronal cleft vertebrae, Abnormal pelvis bone morphology, Sandal gap, Flared femoral metaphysis, ... ORPHA:1427
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Hepatoblastoma, Metaphyseal spurs, Micrognathia, Hy... ORPHA:96334
Striatonigral Degeneration, Childhood-Onset
Dystonia, Craniofacial dystonia, Hypertonia OMIM:617054
3-Methylglutaconic Aciduria Type 1
Spastic tetraparesis, Hypoglycemia, Dystonia, Hepatomegaly, Failure to thrive ORPHA:67046
Brachydactyly, Type B1
Short long bone, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Join... OMIM:113000
Dystonia With Cerebellar Atrophy
Torticollis, Dystonia, Craniofacial dystonia OMIM:611694
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Flexion contracture, Short neck, Dystonia, Resting tremor, Facial hypotonia, Spasti... OMIM:300055
Beta-Thalassemia Major
Bowing of the long bones, Adrenal insufficiency, Hypothyroidism, Hypersplenism, Hepatosplenomegal... ORPHA:231214
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Large for gestational age, Hypoplasia of the ulna, Osteopenia, Osteoporosis, Generalized hypotoni... OMIM:615398
Roifman Syndrome
Brachydactyly, Hypogonadotropic hypogonadism, Hepatosplenomegaly, Irregular capital femoral epiph... ORPHA:353298
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Hepatic steatosis, Dystonia, Intrauterine growth retardation, Elevated circ... ORPHA:26792
Developmental And Epileptic Encephalopathy 7
Generalized hypotonia, Spastic tetraparesis, Dystonia, Hypotonia OMIM:613720
Spastic Ataxia 1, Autosomal Dominant
Leg muscle stiffness, Pes cavus, Dystonia, Spastic paraplegia OMIM:108600
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Back pain, Localized osteoporosis, Rigidity, Spasticity, Kyphoscoliosis, Cervical spondylosis ORPHA:199354
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Craniosynostosis, Osteopenia, Short neck, Short femoral neck, Short metacarpal, Proximal femoral ... OMIM:616723
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hepatic steatosis, Hyperlipidemia, Abnormal response to corticotropin releasing hormone stimulati... ORPHA:189427
Smith-Mccort Dysplasia 1
Irregular epiphyses, Genu varum, Metaphyseal irregularity, Atlantoaxial instability, Kyphosis, Sh... OMIM:607326
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Clinodactyly, Acromicria, Intrauterine growth retardation, Obesity, Micrognathia, Neonatal hypoto... ORPHA:254525
Idiopathic Hypercalciuria
Osteopenia, Osteoporosis ORPHA:2197
Cantú Syndrome
Coxa valga, Finger syndactyly, Short neck, Ovoid vertebral bodies, Short hallux, Osteoporosis, Pl... ORPHA:1517
Filippi Syndrome
Decreased body weight, Dystonia, Intrauterine growth retardation, Cutaneous syndactyly, 2-4 toe s... OMIM:272440
Gollop-Wolfgang Complex
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Kniest Dysplasia
Coronal cleft vertebrae, Enlarged epiphyses, Disproportionate short-trunk short stature, Dispropo... ORPHA:485
Mitochondrial Complex I Deficiency, Nuclear Type 16
Adrenal insufficiency, Dystonia, Intrauterine growth retardation, Spastic tetraplegia, Generalize... OMIM:618238
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Progressive spastic paraplegia, Puberty and gonadal disorders, Structural foot deformity, Kyphosi... ORPHA:464282
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration ORPHA:209919
Congenital Disorder Of Glycosylation, Type Iig
Vertebral segmentation defect, Osteopenia, Short neck, Failure to thrive in infancy, Intrauterine... OMIM:611209
Autosomal Recessive Spastic Paraplegia Type 56
Spastic gait, Dystonia, Spastic paraplegia ORPHA:320411
Orofaciodigital Syndrome Iv
Brachydactyly, Clinodactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly, Micrognathia, Sh... OMIM:258860
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal distal phalanx morphology of finger, Severe short stature, Clinodactyly of the 5th finge... ORPHA:2636
Dystonia 32
Torticollis, Laryngeal dystonia, Limb dystonia OMIM:619637
X Small Rings
Toe syndactyly, Short neck, 2-3 toe syndactyly, Cutaneous syndactyly, Clinodactyly of the 5th fin... ORPHA:96201
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Hepatosplenomegaly,... ORPHA:79302
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Decreased calvarial ossification, Hypoplastic pubic bone, Short long bone, Short neck, Absent gal... OMIM:617925
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Hypoplasia of the ulna, Short neck, Short femoral neck, Pes planus, Dis... OMIM:618395
Gorham-Stout Disease
Cortical irregularity, Abnormal pelvis bone morphology, Osteopenia, Abnormality of the cervical s... ORPHA:73
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Anterior scalloping of vertebral bodies, Hypoplastic iliac wing, Short toe, Brachydactyly, Flexio... OMIM:611717
Leukodystrophy, Hypomyelinating, 18
Flexion contracture, Dystonia, Spastic tetraplegia, Failure to thrive, Scoliosis, Spasticity, Pro... OMIM:618404
Mednik Syndrome
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... ORPHA:171851
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Increased bone mineral density, Tibial bowing, Cortical thickening of long b... OMIM:166740
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Dystonia, Tremor OMIM:614561
Intermediate Osteopetrosis
Hepatosplenomegaly, Recurrent fractures, Sandwich appearance of vertebral bodies, Increased susce... ORPHA:210110
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Short stature, Short tibia, Camptodactyly OMIM:258865
Schwartz-Jampel Syndrome
Abnormally straight spine, Pes planus, Osteoporosis, Micrognathia, Protrusio acetabuli, Micromeli... ORPHA:800
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Dystonia, Prominent protruding coccyx, Spastic diplegia, Obesity, Micrognathia, Joint hypermobili... ORPHA:480907
Cholestasis, Progressive Familial Intrahepatic, 6
Periportal fibrosis, Elevated gamma-glutamyltransferase level, Conjugated hyperbilirubinemia, Int... OMIM:619484
Hajdu-Cheney Syndrome
Tall lumbar vertebral bodies, Osteopenia, Short neck, Vertebral compression fracture, Dislocated ... OMIM:102500
Ulnar Hemimelia
Carpal synostosis, Curved toe phalanx, Radial club hand, Short forearm, Scoliosis, Aplasia of met... ORPHA:93320
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Dystonia, Small for gestational age, Generalized hypotonia, Failure to thrive, Spas... OMIM:614702
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Mesomelic leg shortening, Micrognathia, Hypoplastic iliac wing, Short toe, Ha... OMIM:609945
Galactosemia
Hypergalactosemia, Hepatic failure, Cirrhosis, Dystonia, Action tremor, Hepatomegaly, Jaundice, F... ORPHA:352
Osteogenesis Imperfecta, Type Viii
Decreased calvarial ossification, Osteopenia, Recurrent fractures, Multiple prenatal fractures, K... OMIM:610915
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic steatosis, Hepatic failure, Decreased serum zinc, Intrauterine growth retardation, Choles... ORPHA:541423
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Osteopenia, Increased susceptibility to fractures, Osteomyelitis, Diaph... OMIM:166260
Epilepsy, Nocturnal Frontal Lobe, 4
Dystonia OMIM:610353
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Intention tremor, Clinodactyly of the 5th finger, Tapered finger, Joint contracture of ... OMIM:614407
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped metacarpal epiphyses, Delayed ossification of carpal bones, Disproportionate short-tr... OMIM:300106
Dystonia 28, Childhood-Onset
Dystonia, Craniofacial dystonia, Laryngeal dystonia, Short stature, Spasticity, Torticollis, Retr... OMIM:617284
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Generalized hypotonia, Failure to thrive, Spasticity, Dystonia OMIM:618276
Frank-Ter Haar Syndrome
Osteoporosis, Micrognathia, Hypotonia, Anterior concavity of thoracic vertebrae, Hip dysplasia, B... OMIM:249420
Caffey Disease
Cortical irregularity, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular b... OMIM:114000
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia, Increased susceptibility to fractures, Osteopenia, Osteoporosis OMIM:612287
Osteoporosis-Pseudoglioma Syndrome
Increased susceptibility to fractures, Osteoporosis, Platyspondyly, Joint hypermobility, Hypotoni... OMIM:259770
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinem... OMIM:235555
Post-Traumatic Pituitary Deficiency
Central diabetes insipidus, Hypogonadotropic hypogonadism, Hypoglycemia, Osteopenia, Panhypopitui... ORPHA:95619
Mitochondrial Complex I Deficiency, Nuclear Type 23
Generalized hypotonia, Scoliosis, Dystonia OMIM:618244
Partington Syndrome
Flexion contracture, Focal dystonia, Lower limb spasticity, Limb dystonia, Camptodactyly OMIM:309510
Fanconi-Bickel Syndrome
Bowing of the long bones, Glycosuria, Fasting hypoglycemia, Osteopenia, Hepatic failure, Elevated... ORPHA:2088
Patterson Pseudoleprechaunism Syndrome
Ovoid thoracolumbar vertebrae, Small cervical vertebral bodies, Long foot, Short long bone, Irreg... OMIM:169170
Shox-Related Short Stature
Short neck, Ulnar radial head dislocation, Tibial bowing, Obesity, Micrognathia, Lower limb under... ORPHA:314795
Baker-Gordon Syndrome
Dystonia, Abnormal foot morphology, Joint laxity, Scoliosis, Neonatal hypotonia OMIM:618218
Developmental And Epileptic Encephalopathy 38
Generalized hypotonia, Dystonia, Hypertonia OMIM:617020
Allan-Herndon-Dudley Syndrome
Pes valgus, Flexion contracture, Dystonia, Failure to thrive in infancy, Abnormality of thyroid p... ORPHA:59
Autosomal Dominant Spastic Ataxia Type 1
Leg muscle stiffness, Hypertonia, Spastic gait, Dystonia, Spastic dysarthria, Spastic paraplegia,... ORPHA:251282
2,4-Dienoyl-Coa Reductase Deficiency
Hyperlysinemia, Dystonia, Failure to thrive, Neonatal hypotonia, Spasticity, Decreased plasma fre... OMIM:616034
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Osteopenia, Female hypogonadism, Decreased serum testosterone conc... ORPHA:432
Nestor-Guillermo Progeria Syndrome
Flexion contracture, Joint stiffness, Osteolytic defects of the distal phalanges of the hand, Dec... OMIM:614008
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Portal hypertension, Osteopenia, Intrauterine growth retardation, Dystonia, Growth delay, Spasticity OMIM:617341
Gallbladder Disease 1
Cholelithiasis, Cholangitis, Cholecystitis, Cholesterol gallstones, Jaundice, Elevated hepatic tr... OMIM:600803
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Slender long bone, Abnormal form of the vertebral bodies, Generalized bone demineralization, Tria... ORPHA:73230
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Generalized hypotonia, Dystonia OMIM:616763
Richieri Costa-Da Silva Syndrome
Decreased anterioposterior diameter of lumbar vertebral bodies, Generalized bone demineralization... ORPHA:3101
Striatonigral Degeneration, Infantile
Failure to thrive, Spasticity, Dystonia OMIM:271930
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2
Rigidity, Dystonia OMIM:619661
Werner Syndrome
Short stature, Osteoporosis, Diabetes mellitus, Hypogonadism OMIM:277700
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Osteopenia, Recurrent fractures, 2-3 toe syndactyly, Generalized hypotonia, Postnatal growth reta... ORPHA:2324
Jaberi-Elahi Syndrome
Talipes, Joint stiffness, Kyphosis, Dystonia, Joint hypermobility, Generalized hypotonia, Failure... OMIM:617988
Osteogenesis Imperfecta, Type Xi
Osteopenia, Vertebral compression fracture, Joint laxity, Vertebral wedging, Increased susceptibi... OMIM:610968
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum
Dystonia, Spastic paraplegia OMIM:615030
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Short neck, Recurrent fractures, Vertebral compression fracture, Osteoporosis, Thin bony cortex, ... OMIM:309583
Thalidomide Embryopathy
Insulin resistance, Radial club hand, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morp... ORPHA:3312
Laurin-Sandrow Syndrome
Toe syndactyly, Talipes, Finger syndactyly, Absent radius, Absent tibia, Mirror image polydactyly... ORPHA:2378
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Irregular epiphyses, Short neck, Hip osteoarthritis, Short femoral neck, Kyphosis, Disproportiona... OMIM:313400
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Flexion contracture, Intrauterine growth retardation, Dystonia, Spastic tetraplegia, Ge... OMIM:618237
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Dystonia 23
Axial dystonia, Head tremor, Limb dystonia, Torticollis, Writer's cramp OMIM:614860
Spondylodysplastic Ehlers-Danlos Syndrome
Generalized osteoporosis, Coronal cleft vertebrae, Abnormality of finger, Pes planus, Agenesis of... ORPHA:536471
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Eleva... OMIM:613812
Leukodystrophy, Hypomyelinating, 14
Generalized hypotonia, Spasticity, Dystonia, Growth delay OMIM:617899
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia, Increased susceptibility to fractures, Osteopenia, Osteoporosis OMIM:612286
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Absent ossification of capital femoral epiphysis, Cervical kyphosis, Flexion contracture, Joint s... OMIM:245160
Fibrous Dysplasia Of Bone
Abnormality of the ulna, Abnormal pelvis bone morphology, Fibrous dysplasia of the bones, Osteoma... ORPHA:249
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hypoplastic ischia, Hypoplastic pubic bone, Talipes, Slender long bone, Severe generalized osteop... OMIM:210730
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Coronal cleft vertebrae, Short long bone, Premature osteoarthritis, Short palm, Flexion contractu... OMIM:215150
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Severe short stature, Micrognathia, Scoliosis, Reduced bone mineral density, Vertebral ... ORPHA:2617
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Primary gonadal insufficiency, Osteopenia, Contracture of the proximal int... ORPHA:2232
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Diamond-Blackfan Anemia 7
Osteopenia, Intrauterine growth retardation, Triphalangeal thumb, Osteoporosis, Short thumb, Grow... OMIM:612562
Alg3-Cdg
Spastic tetraparesis, Osteopenia, Abnormality of limb bone morphology, Dystonia, Metaphyseal chon... ORPHA:79321
Kniest Dysplasia
Coronal cleft vertebrae, Short neck, Tracheomalacia, Abnormal cartilage collagen, Disproportionat... OMIM:156550
Premature Aging Syndrome, Okamoto Type
Osteoporosis, Diabetes mellitus OMIM:601811
Robin Sequence With Cleft Mandible And Limb Anomalies
Fibular hypoplasia, Short metacarpal, Clinodactyly of the 5th finger, Tibial deviation of toes, S... OMIM:268305
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Narrow iliac wing, Genu varum, Bowing of the legs, Broad tibial metaphyses, Short palm, Short fem... ORPHA:2502
Dystonia 31
Generalized dystonia, Leg dystonia, Craniofacial dystonia, Writer's cramp, Arm dystonia OMIM:619565
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Coxa valga, Abnormal foot morphology, Broad femoral n... ORPHA:85184
Farber Disease
Hepatic failure, Flexion contracture, Hepatosplenomegaly, Intrahepatic cholestasis with episodic ... ORPHA:333
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Brachydactyly, Hypoplasia of the ulna, Short long bone, Fibular hypoplasia, Short ribs, Absent ti... OMIM:613091
Linear Verrucous Nevus Syndrome
Toe syndactyly, Talipes, Short metacarpal, Scoliosis, Genu recurvatum, Reduced bone mineral densi... ORPHA:2611
Atypical Rett Syndrome
Kyphosis, Dystonia, Abnormal muscle tone, Pill-rolling tremor, Growth delay, Scoliosis, Neonatal ... ORPHA:3095