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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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.

Gross Pathology and Tissue Collection

Images

8 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 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, Elevated circulating hepatic transaminase concentration, Hypermethioninemia OMIM:606664
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con... OMIM:619874
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Disproportionate short-limb short stature, Failure to thrive, Epiphyseal stippling, S... OMIM:600121
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis OMIM:608805
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Congenital Disorder Of Glycosylation, Type Iik
Epiphyseal dysplasia, Growth delay, Failure to thrive, Elevated circulating aspartate aminotransf... OMIM:614727
Metaphyseal Chondrodysplasia, Spahr Type
Disproportionate short stature, Abnormal epiphysis morphology, Scoliosis, Reduced bone mineral de... ORPHA:2501
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Finger swelling, Limitation of joint mobility, Hypoplasia of the odontoid pr... ORPHA:93284
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Crigler-Najjar Syndrome, Type Ii
Reduced tissue UDP-glucuronyl-transferase activity, Unconjugated hyperbilirubinemia, Jaundice, El... OMIM:606785
Isolated Glycerol Kinase Deficiency
Hypotonia, Adrenocortical hypoplasia, Elevated circulating creatine kinase concentration, Hyperlo... ORPHA:408
Rhizomelic Dysplasia, Ain-Naz Type
Severe short stature, Platyspondyly, Rhizomelia, Limitation of joint mobility, Wide distal femora... OMIM:619598
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Short neck, Pes ... OMIM:251450
Spondyloepiphyseal Dysplasia Congenita
Dysplasia of the femoral head, Genu valgum, Micrognathia, Limited elbow movement, Short neck, Dis... ORPHA:94068
Winchester Syndrome
Carpal osteolysis, Osteolysis involving tarsal bones, Generalized osteoporosis, Broad metacarpals... OMIM:277950
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Joint hypermobility, Short neck, Delayed puberty, Hyperinsulinemic hypoglycemi... OMIM:616033
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Kyphosis, Squa... OMIM:271530
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Joint contracture of the hand, Infancy onset short-trunk short stature... ORPHA:1159
Acromesomelic Dysplasia 2A
Acromesomelia, Disproportionate short-limb short stature, Short tibia, Aplasia/Hypoplasia involvi... OMIM:200700
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Synostosis of carpal bones, Abnormal epiphysis morphology, Limitation of joint mob... ORPHA:93351
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Broa... OMIM:620639
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio... ORPHA:93323
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e... ORPHA:174
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Osteopenia, Portal fibrosis, Elevated circulating hepatic transaminase concentr... ORPHA:369
Syndactyly Type 4
Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... ORPHA:93405
Osebold-Remondini Syndrome
Mesomelia, Radial deviation of finger, Short tibia, Short toe, Type A brachydactyly, Carpal synos... OMIM:112910
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Insulin-resistant diabetes mellitus, Iv... OMIM:226980
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Gout, Type II diabetes mellitus, Hy... OMIM:610947
Progressive Pseudorheumatoid Dysplasia
Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Abnormal foot morphology, ... OMIM:208230
Leri-Weill Dyschondrosteosis
Mesomelia, Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Disproportion... OMIM:127300
Slc35A2-Cdg
Short tibia, Talipes equinovarus, Spastic tetraparesis, Precocious puberty, Osteopenia, Failure t... ORPHA:356961
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac... OMIM:184260
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Severe short stature, ... OMIM:132400
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Platyspondyly, Irregular acetabular roof, Metaphyseal dysplasia, Short stature, Reduced bone mine... OMIM:617974
Hip Dysplasia, Beukes Type
Broad femoral neck, Abnormal epiphysis morphology, Kyphosis, Abnormality of the epiphysis of the ... ORPHA:2114
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Short distal phalanx of finger, Brachydactyly, Joint hypermobility ORPHA:2787
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia, Hypogonadotropic hypogonadism OMIM:615269
Extensor Tendons Of Finger Anomalies
Osteoporosis, Limitation of joint mobility, Camptodactyly of finger ORPHA:3294
Diastrophic Dysplasia
Ulnar deviation of finger, Neonatal short-limb short stature, Hypoplastic cervical vertebrae, Dis... OMIM:222600
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Elevated circulating parathyroid hor... OMIM:600785
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Hypoglycemia, Intrauterine growth retardation, Micrognathia, Hypogonadotropic hypogonad... ORPHA:48431
Hall-Riggs Syndrome
Platyspondyly, Failure to thrive, Intrauterine growth retardation, Brachydactyly, Metaphyseal dys... OMIM:234250
Prieto Syndrome
Radial deviation of finger, Clinodactyly, Generalized hypotonia, Hypotonia, 11 pairs of ribs, Tal... OMIM:309610
Chondroectodermal Dysplasia With Night Blindness
Epiphyseal dysplasia, Osteopenia, Platyspondyly, Fractures of the long bones, Equinovarus deformi... ORPHA:319195
Hemidystonia-Hemiatrophy Syndrome
Hemiatrophy, Rhizomelic leg shortening, Limb dystonia, Dystonia, Dense calvaria ORPHA:306741
Bruck Syndrome 1
Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Increased... OMIM:259450
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Short femoral neck, Decreased body weight, Brachydactyly, Short stature, Reduced bone m... OMIM:618392
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Intr... ORPHA:1972
Forsythe-Wakeling Syndrome
Short stature, Osteoporosis, Growth delay, Decreased body weight OMIM:613606
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Enlarged metaphyses, Severe short stature, Platyspondyly, Lower-limb metaphyseal irregularity, Po... OMIM:618728
Perrault Syndrome 1
Pes cavus, Talipes equinovarus, Increased circulating gonadotropin level, Osteoporosis, Scoliosis... OMIM:233400
Short Stature, Dauber-Argente Type
Osteopenia, Fasting hyperinsulinemia, Decreased fibular diameter, Postnatal growth retardation, I... OMIM:619489
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Short toe, Aplasia of the middle phalanges of the toes, ... ORPHA:2098
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormal epiphysis morphology, Kyphosis, Abnormal diaphysis morphology, Camptodac... ORPHA:3409
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Platyspondyly, Vertebral wedging, Hypoplasia of the capital femoral epiphys... OMIM:617719
Osteogenesis Imperfecta, Type Xxi
Platyspondyly, Disproportionate short-limb short stature, Hypotonia, Bowing of the arm, Joint hyp... OMIM:619131
Acromesomelic Dysplasia 2C
Acromesomelia, Shortening of all middle phalanges of the fingers, Short tibia, Short thumb, Radia... OMIM:201250
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Disproportionate short stature, Arthralgia of the hip, Limitatio... ORPHA:93308
Gilbert Syndrome
Unconjugated hyperbilirubinemia, Hepatic failure, Elevated circulating hepatic transaminase conce... OMIM:143500
Spondylometaphyseal Dysplasia, Corner Fracture Type
Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of metaphysis, Hyperconve... OMIM:184255
Gnathodiaphyseal Dysplasia
Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, S... ORPHA:53697
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Mesomelic short statur... OMIM:249700
Metaphyseal Dysplasia Without Hypotrichosis
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Abnormality of the ve... OMIM:250460
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal sacrum morpholo... ORPHA:1988
Autosomal Dominant Focal Dystonia, Dyt25 Type
Laryngeal dystonia, Limb dystonia, Axial dystonia, Craniofacial dystonia, Lingual dystonia, Torti... ORPHA:329466
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Short toe, Elevated circulating parathyroid hormone level, Short finger, Hypog... OMIM:103580
Pseudopseudohypoparathyroidism
Obesity, Pseudohypoparathyroidism, Short neck, Brachydactyly, Short stature, Osteoporosis, Short ... OMIM:612463
Iron Overload, Susceptibility To
Elevated transferrin saturation, Elevated circulating hepcidin concentration, Elevated hepatic ir... OMIM:620121
Osteogenesis Imperfecta, Type Xxii
Multiple small vertebral fractures, Slender long bone, Abnormal blood phosphate concentration, De... OMIM:619795
Hemochromatosis, Type 5
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... OMIM:615517
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Elevated circulating thyroid-s... OMIM:612462
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl... OMIM:607078
Osteosclerotic Metaphyseal Dysplasia
Failure to thrive, Dense metaphyseal bands, Hypotonia, Sclerotic vertebral endplates, Clavicular ... OMIM:615198
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Finger clinodactyly, Generalized hypotonia, Patellar subluxation, Bilateral talipes equinovarus, ... ORPHA:2958
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia, Jaundice, Elevated circulating hepatic transaminase concentration OMIM:218800
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hypotonia, Hepatomegaly, Osteoporosis, Macrovesicular hepatic steatosis, Scoli... OMIM:618234
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Delayed puberty, S... ORPHA:2410
Weismann-Netter Syndrome
Severe short stature, Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Ab... ORPHA:3344
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia, Delayed puberty OMIM:615271
Osteogenesis Imperfecta, Type Xiii
Platyspondyly, Wide distal femoral metaphysis, Generalized hypotonia, Increased bone mineral dens... OMIM:614856
Premature Ovarian Failure 2B
Osteoporosis, Delayed puberty OMIM:300604
Bruck Syndrome
Platyspondyly, Kyphosis, Joint stiffness, Bowing of the long bones, Talipes equinovarus, Short st... ORPHA:2771
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sandwich appearance of vertebral bodies, Sclerosis of skull base, Fe... OMIM:602080
Bent Bone Dysplasia Syndrome 2
Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Short neck, Hepatomegaly, Osteopenia, S... OMIM:620076
Warburg Micro Syndrome 1
Failure to thrive, Overlapping toe, Hypotonia, Micrognathia, Joint hypermobility, Kyphoscoliosis,... OMIM:600118
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... OMIM:147891
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Hjv Or Hamp-Related Hemochromatosis
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... ORPHA:79230
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Neonatal hyperbilirubinemia, Clinodactyly, Failure to thrive, Hypoglycemia, H... ORPHA:73272
Calvarial Doughnut Lesions With Bone Fragility
Severe short stature, Osteopenia, Platyspondyly, Femoral bowing, Osteoporosis, Scoliosis, Recurre... OMIM:126550
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum
Growth delay, Cogwheel rigidity, Decreased body weight, Hypertonia, Spastic gait, Dystonia, Short... OMIM:618284
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short neck, Pes planus, Sho... OMIM:184095
Osteogenesis Imperfecta, Type X
Platyspondyly, Osteopenia, Rhizomelia, Micromelia, Generalized hypotonia, Genu valgum, Fibular bo... OMIM:613848
Geroderma Osteodysplastica
Severe short stature, Platyspondyly, Hip dislocation, Abnormal epiphysis morphology, Abnormal for... ORPHA:2078
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Intrauterine growt... ORPHA:2370
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Osteopenia, Flared metaphysis, Decreased fibular diameter, Intrauterine growth ret... OMIM:616897
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short stature, Osteoporosis, Cone-shaped epiphysis, Platyspondyly ORPHA:71267
Osteogenesis Imperfecta, Type Xii
Generalized osteoporosis, Hypermobility of interphalangeal joints, Hyperextensibility of the fing... OMIM:613849
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Generalized hypot... OMIM:600081
Brachyolmia Type 1, Toledo Type
Lumbar hyperlordosis, Precocious costochondral ossification, Abnormal odontoid process morphology... OMIM:271630
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Abnormal lower limb bone morphology, Increased susceptibility to fractures, Joint hyp... ORPHA:2788
Atelosteogenesis Type I
Platyspondyly, Rhizomelia, Abnormal pancreatic duct morphology, Absent or minimally ossified vert... ORPHA:1190
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Micrognathia, Hip contracture, Bowing of the long bones, Talipes e... OMIM:255800
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Limited hip movement, Dysplasia of the femoral head, Hip contracture, Disproportionate short-trun... ORPHA:99642
Dystonia 33
Spasticity, Pes cavus, Limb dystonia, Axial dystonia, Dystonia, Axial hypotonia OMIM:619687
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Osteoporosis, Platyspondyly, Kyphosis ORPHA:2786
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog... OMIM:232700
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral... ORPHA:1802
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Genu valgum, ... ORPHA:166016
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Platyspondyly, Broad femoral neck, Arthralgia of the hip, Flared femoral me... OMIM:609324
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ... ORPHA:79301
Flynn-Aird Syndrome
Joint stiffness, Increased bone density with cystic changes, Kyphoscoliosis, Osteoporosis, Increa... OMIM:136300
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Metaphyseal cupping, Elevated circulating parathyroid hormone level, Flared metaphysi... OMIM:619073
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Increased total bilir... OMIM:619868
Sialidosis Type 2
Generalized hypotonia, Splenomegaly, Tremor, Hepatomegaly, Osteoporosis, Flexion contracture, Sho... ORPHA:87876
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Osteopenia, Failure to thrive, Dense metaphyseal bands, Slender build, Intrauterine growth retard... ORPHA:50811
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Joint contracture of the hand, Deep longitudinal plantar crease, Failure to t... OMIM:214150
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Pes planus, Beaking of vertebral bodies, Broad toe, Flat acetabular roof,... OMIM:609616
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Genu valgum, Micrognathia, Hip contracture, Pes planus, Flattened epiphysis, Advanced ossificatio... OMIM:618363
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino... OMIM:613330
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Achondroplasia
Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Femoral bowing, Limited elbo... OMIM:100800
Brachydactylous Dwarfism, Mseleni Type
Severe short stature, Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Limitation of joi... ORPHA:2619
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Osteoporosis
Osteoporosis OMIM:166710
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Decreased circulating parathyroid hormone level, Rickets, Bulgin... OMIM:241530
Hyaline Fibromatosis Syndrome
Osteopenia, Failure to thrive, Progressive flexion contractures, Osteoporosis, Flexion contractur... OMIM:228600
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... ORPHA:3329
Dystonia 4, Torsion, Autosomal Dominant
Hemidystonia, Generalized dystonia, Slender build, Limb dystonia, Torticollis, Torsion dystonia OMIM:128101
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Dispropo... OMIM:156530
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Stuve-Wiedemann Syndrome 1
Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long bones, Talipes, Hypoplasti... OMIM:601559
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,... OMIM:226900
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Rhyns Syndrome
Osteopenia, Radial bowing, Decreased response to growth hormone stimulation test, Short stature, ... OMIM:602152
Mucopolysaccharidosis, Type Iva
Platyspondyly, Constricted iliac wing, Hypoplasia of the odontoid process, Kyphosis, Genu valgum,... OMIM:253000
Thanatophoric Dysplasia Type 1
Platyspondyly, Hypoplastic ilia, Micromelia, Lethal short-limbed short stature, Hypotonia, Femora... ORPHA:1860
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Fibular bowing, Hypophosphatemia, Secondary hyperparathyroidism,... OMIM:264700
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, M... OMIM:615381
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hyperphosphatemia, Failure to thrive, Kyphosis, Increased bone mineral density, Hypot... OMIM:239000
Hypochondroplasia
Disproportionate short-limb short stature, Flared metaphysis, Lumbar hyperlordosis, Trident hand,... OMIM:146000
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Platyspondyly, Osteopenia, Broad femoral neck, Failure to thrive, Moderately short stature, Abnor... ORPHA:157965
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra... OMIM:156500
Juvenile Paget Disease
Coarse metaphyseal trabecularization, Cranial hyperostosis, Hyperuricemia, Bowing of the long bon... ORPHA:2801
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Hypoplastic cervical vertebrae, Knee dislocation, Small epiphyses, Limb dystonia, Joint hypermobi... OMIM:620269
Atelosteogenesis Type Ii
Hypoplastic cervical vertebrae, Equinovarus deformity, Genu valgum, Micrognathia, Short neck, Bro... ORPHA:56304
Osteogenesis Imperfecta, Type Iii
Neonatal short-limb short stature, Disproportionate short-limb short stature, Slender long bone, ... OMIM:259420
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Multiple small vertebral fractures, Flared metaphysis, Short 5th metacarpal, Short... OMIM:156510
Bile Acid Conjugation Defect 1
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... OMIM:619232
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ... OMIM:603546
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... OMIM:612447
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Hepatos... ORPHA:93352
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... ORPHA:139507
Pyle Disease
Platyspondyly, Absent paranasal sinuses, Genu valgum, Limited elbow extension, Thin bony cortex, ... OMIM:265900
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Small hand, Clinodactyly, Maturity-onset diabetes of the young, Postnatal gro... ORPHA:254531
Ruijs-Aalfs Syndrome
Clinodactyly, Elbow flexion contracture, Hypogonadism, Micrognathia, Down-sloping shoulders, Decr... OMIM:616200
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Fibular bowing, Hypophosphatemia, Secondary hyperparathyroidism,... OMIM:277440
Multiple Epiphyseal Dysplasia, Beighton Type
Limitation of joint mobility, Genu valgum, Intervertebral space narrowing, Reduced proximal inter... ORPHA:166011
Mucopolysaccharidosis, Type Ivb
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Disproportionate short-t... OMIM:253010
Mycetoma
Structural foot deformity, Abnormal forearm bone morphology, Painless fractures due to injury, Pa... ORPHA:2583
Weismann-Netter Syndrome
Severe short stature, Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Calvarial hypero... OMIM:112350
Cantu Syndrome
Platyspondyly, Erlenmeyer flask deformity of the femurs, Broad hallux, Large for gestational age,... OMIM:239850
Cranioectodermal Dysplasia
Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abnormal diaphysis morphology, Joi... ORPHA:1515
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Osteoporosis OMIM:233300
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Osteoarthritis of the elbow, Camptodactyly of finger, Lumbar hyperlordosis, Bone cyst, Camptodact... ORPHA:2848
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Generalized hypotonia, Hypotonia, Obesity, Lumbar hyperlordosis, Talipes equinovarus, L... OMIM:616756
Atelosteogenesis, Type I
Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Short neck, Aplasia/H... OMIM:108720
Epiphyseal Chondrodysplasia, Miura Type
Epiphyseal dysplasia, Fifth finger distal phalanx clinodactyly, Osteopenia, Broad hallux, Long ha... OMIM:615923
Cholestasis, Intrahepatic, Of Pregnancy, 1
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Increased seru... OMIM:147480
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Sandal gap, Generalized hypotonia, Failure to thrive, Hypoglycemia, Hypo... OMIM:607143
Dystonia 30
Arm dystonia, Leg dystonia, Oromandibular dystonia, Torticollis, Dystonia, Writer's cramp OMIM:619291
Dystonia 25
Limb dystonia, Lingual dystonia, Torticollis, Laryngeal dystonia OMIM:615073
Classic Galactosemia
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Postural ... ORPHA:79239
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hepatocellular necro... OMIM:231100
Dermatosparaxis Ehlers-Danlos Syndrome
Severe short stature, Osteopenia, Rickets, Osteomalacia, Avascular necrosis of the capital femora... ORPHA:1901
Symptomatic Form Of Hfe-Related Hemochromatosis
Hyperglycemia, Cirrhosis, Weight loss, Hepatomegaly, Hypogonadotropic hypogonadism, Chronic hepat... ORPHA:465508
Morgagni-Stewart-Morel Syndrome
Obesity, Abnormality of the thyroid gland, Action tremor, Hyperuricemia, Hypothyroidism, Hypercho... ORPHA:77296
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Hepatosplenomegaly, Genu valgum, Fibular bowing, Hypophosphatemia, Abnormal circula... OMIM:307800
Mu-Heavy Chain Disease
Splenomegaly, Weight loss, Hepatomegaly, Osteoporosis, Osteolysis ORPHA:100024
Methylcobalamin Deficiency Type Cble
Clinodactyly, Failure to thrive, Lower limb hypertonia, Postnatal growth retardation, Hypotonia, ... ORPHA:2169
Infantile Systemic Hyalinosis
Severe short stature, Osteopenia, Aplasia/Hypoplasia of the thymus, Failure to thrive, Osteomalac... ORPHA:2176
Spastic Paraplegia 90A, Autosomal Dominant
Failure to thrive, Appendicular spasticity, Spastic gait, Dystonia, Scoliosis, Short stature, Axi... OMIM:620416
Mucolipidosis Type Iii
Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Joint stiffness, Abnormal hip b... ORPHA:577
Orofaciodigital Syndrome Viii
Short stature, Syndactyly, Short tibia, Polydactyly OMIM:300484
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... OMIM:259600
Pelviscapular Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Elbow flexion contracture, Me... ORPHA:93333
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Rothmund-Thomson Syndrome, Type 1
Short stature, Osteoporosis, Male hypogonadism, Hypothyroidism OMIM:618625
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Decreased body... OMIM:271640
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c... OMIM:214900
Menkes Disease
Metaphyseal spurs, Hypotonia, Intrauterine growth retardation, Joint hypermobility, Metaphyseal w... OMIM:309400
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m... ORPHA:970
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Striatonigral Degeneration, Childhood-Onset
Hypotonia, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Ankle clonus... OMIM:617054
Ovarian Dysgenesis 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Eunuchoid habitus, Ele... OMIM:618187
Osteogenesis Imperfecta, Type Xvii
Platyspondyly, Thin metacarpal cortices, Hypotonia, Recurrent fractures, Joint hypermobility, Kyp... OMIM:616507
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Kyphosis, Contracture of the proximal interphalangeal joint of the 2nd finger, Congen... OMIM:130060
Congenital Disorder Of Glycosylation, Type Iiy
Scoliosis, Hypotonia, Reduced bone mineral density, Hip subluxation OMIM:620200
Acrofacial Dysostosis Syndrome Of Rodriguez
Clinodactyly, Short tibia, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular... OMIM:201170
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Abnormal vertebral morphology, Platyspondy... ORPHA:93346
Pontocerebellar Hypoplasia, Type 2E
Spasticity, Neonatal hypotonia, Failure to thrive, Micrognathia, Opisthotonus, Hypertonia, Short ... OMIM:615851
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Increased total bilirub... OMIM:210500
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Increased serum zinc OMIM:601979
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Familial Hyperprolactinemia
Osteoporosis, Osteopenia, Female hypogonadism ORPHA:397685
Chondrodysplasia With Joint Dislocations, Gpapp Type
Coronal craniosynostosis, Patellar dislocation, Short toe, Knee dislocation, Genu valgum, Limited... OMIM:614078
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Infantile axial hypotonia, Multiple joint contractures, Tremor, Ankle clonus, Scissor... ORPHA:521406
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Osteoporosis, Spastic tetraplegia OMIM:619971
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, Increased circulating cortisol level, Pigmented micronodular adrenocortical... OMIM:610475
Dystonia 6, Torsion
Laryngeal dystonia, Limb dystonia, Lingual dystonia, Torticollis, Writer's cramp, Torsion dystoni... OMIM:602629
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia, Delayed puberty, Hypogonadism OMIM:615270
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase l... OMIM:617093
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi... ORPHA:98754
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Increased erythrocyte pr... OMIM:300752
Geroderma Osteodysplasticum
Severe short stature, Osteopenia, Platyspondyly, Femoral bowing, Increased susceptibility to frac... OMIM:231070
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Disproportionate short stature, Flared metaphysis, Small epiphyses, Femora... ORPHA:93356
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteoporosis, Osteopenia, Genu valgum, Small pituitary gland OMIM:614880
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... OMIM:616860
Primary Dystonia, Dyt13 Type
Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Action tremor, Craniofaci... ORPHA:98807
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... OMIM:615954
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity, Hypotonia, Limb dystonia, Intrauterine growth retardation, Tremor, Bilateral coxa valga OMIM:620270
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... ORPHA:93315
Achondrogenesis Type 2
Hypoplastic ilia, Unossified sacrum, Micromelia, Absent vertebral body mineralization, Delayed pu... ORPHA:93296
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Disproportionate short-limb short stature, Metaphyseal spurs, Micromelia, Irregula... OMIM:608728
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi... ORPHA:98793
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Intrauterine growth retardation, Micrognathi... OMIM:251230
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Pes planus, Disproportionate sh... ORPHA:457395
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Micromelia, Femoral bowing, Micrognathia, Dumbbell-shaped long ... ORPHA:440354
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Osteopenia, Absence of secondary sex characteristics, Absence of... ORPHA:785
Osteogenesis Imperfecta, Type Xix
Severe short stature, Osteopenia, Rhizomelia, Vertebral wedging, Bowing of the arm, Biconcave ver... OMIM:301014
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Osteomalacia, Postnatal growth retardation, Hypophosphatemia, He... ORPHA:289157
Progeria-Short Stature-Pigmented Nevi Syndrome
Short distal phalanx of finger, Osteopenia, Elevated circulating hepatic transaminase concentrati... ORPHA:2959
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypermethioninemia, Generalized osteoporosis, Limitation of joint mobility, Failure to thrive, He... OMIM:236200
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foot morphology, Aplasia/hy... ORPHA:75508
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi... ORPHA:177901
Spastic Paraplegia 90B, Autosomal Recessive
Failure to thrive, Appendicular spasticity, Joint contracture, Short stature, Dystonia, Axial hyp... OMIM:620417
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Decreased circulating dehydroepiandrosterone concentration, Kyphosis, Increased circu... OMIM:610489
Acheiropody
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
Spondylo-Ocular Syndrome
Platyspondyly, Joint hypermobility, Short neck, Pes planus, Disproportionate short-trunk short st... ORPHA:85194
Multiple Epiphyseal Dysplasia Type 4
Limitation of joint mobility, Radial bowing, Hypoplastic cervical vertebrae, Premature osteoarthr... ORPHA:93307
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Symphalangism of the thumb, Short toe, Clinodactyly, Broad hallux, Failure to thrive, Hypotonia, ... OMIM:620494
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Premature osteoarthritis, Genu valgum, Abn... ORPHA:93360
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Cholestasis, Splenomegaly, Hypocalcemia, Short stature, Hepatomegaly, Jaundice... ORPHA:172
Niemann-Pick Disease, Type A
Spasticity, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hyp... OMIM:257200
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... OMIM:300554
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia, Spastic tetraparesis, Hepatomegaly, Dystonia ORPHA:67046
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteoporosis, Osteopenia, Absence of pubertal development, Hypogonadism OMIM:615267
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Dystonia, Early-Onset, And/Or Spastic Paraplegia
Spastic paraplegia, Dystonia, Laryngeal dystonia OMIM:619681
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Disproportiona... ORPHA:168549
Microphthalmia With Limb Anomalies
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial fo... ORPHA:1106
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Increased circulating cortisol level, Decreased circulating ACTH concentration, Macro... OMIM:219080
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Disproportiona... ORPHA:239
Osteogenesis Imperfecta, Type Xviii
Femoral bowing, Micrognathia, Biconcave vertebral bodies, Joint hypermobility, Bowing of the long... OMIM:617952
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Narrow vertebral interpedicular distance, Short neck, Hepatomega... OMIM:602557
Autosomal Recessive Kenny-Caffey Syndrome
Small hand, Hypocalcemic tetany, Postnatal growth retardation, Intrauterine growth retardation, H... ORPHA:93324
Propionic Acidemia
Failure to thrive, Hypoglycemia, Hyperglycinemia, Hyperammonemia, Limb hypertonia, Pancreatitis, ... OMIM:606054
Prader-Willi Syndrome
Small hand, Neonatal hypotonia, Clinodactyly, Hyperinsulinemia, Genu valgum, Type II diabetes mel... OMIM:176270
Kyphomelic Dysplasia
Platyspondyly, Disproportionate short stature, Limitation of joint mobility, Radial bowing, Flare... OMIM:211350
Nail-Patella Syndrome
Equinovarus deformity, Abnormal tibia morphology, Talipes calcaneovalgus, Contracture of the dist... ORPHA:2614
Atelosteogenesis Type Iii
Thoracolumbar kyphosis, Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubu... ORPHA:56305
Osteogenesis Imperfecta, Type V
Platyspondyly, Osteopenia, Abnormal pelvic girdle bone morphology, Vertebral wedging, Anterior ra... OMIM:610967
Cleidocranial Dysplasia
Hypoplastic scapulae, Genu valgum, Micrognathia, Decreased skull ossification, Abnormal metacarpa... ORPHA:1452
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Lumbar platyspondyly, Coarse metaphyseal trabecularization, Neonatal hypotonia, Thoracic platyspo... OMIM:618961
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Absence of pubertal development, Obesity, Hypogonadotropic hypogonadism, Osteoporosis, Diabetes m... OMIM:610628
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Small hand, Neonatal hypotonia, Absence of pubertal development, Type II di... ORPHA:398079
Insulin-Like Growth Factor I Deficiency
Osteopenia, Postnatal growth retardation, Intrauterine growth retardation, Micrognathia, Decrease... OMIM:608747
Achondroplasia
Flat acetabular roof, Disproportionate short stature, Cervical spinal canal stenosis, Obesity, Li... ORPHA:15
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, ... OMIM:615830
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated... ORPHA:53693
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose intolerance, Biconcave vert... OMIM:219090
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Anterior hypopitui... ORPHA:2235
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Rickets, Failure to thrive, Hypotonia, Hepatomegaly, Osteoporosis OMIM:560000
Shashi-Pena Syndrome
Kyphosis, Hypoglycemia, Hypotonia, Intrauterine growth retardation, Cervical C2/C3 vertebral fusi... OMIM:617190
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormality of carpal bone ossification, Osteopenia, Failure to thrive, Slender build, Intrauteri... OMIM:608154
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Knee dislocation, Micrognathia, Generalized joint hypermobility, Cervical C2/C3 verte... OMIM:618000
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Spasticity, Pathologic fracture, Postnatal growth retardation, Metaphyseal sclerosis,... OMIM:612199
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Genu valgum, Micrognathia, Radioulnar synostosis, Talipes equinovarus, Broad... OMIM:245600
Spastic Paraplegia 47, Autosomal Recessive
Genu recurvatum, Spastic paraplegia, Spasticity, Neonatal hypotonia, Acetabular dysplasia, Talipe... OMIM:614066
Spastic Paraplegia 87, Autosomal Recessive
Lumbar hyperlordosis, Lower limb spasticity, Spastic gait, Dystonia, Upper limb spasticity OMIM:619966
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Cholelithiasis, Osteopenia, Decreased liver function, Hypogonadi... ORPHA:231222
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Femoral bowing, Increased susceptibility to fractures, Short stature, Scoliosis, Recu... OMIM:615066
19P13.3 Microduplication Syndrome
Precocious puberty, Clinodactyly, Intrauterine growth retardation, Micrognathia, Pes cavus, Kypho... ORPHA:447980
Gaucher Disease Type 1
Hypersplenism, Hepatosplenomegaly, Cirrhosis, Hepatomegaly, Elevated circulating CCL18 level, Ost... ORPHA:77259
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Platyspondyly, Short femoral neck, Knee dislocation, Obesity, Joint hypermobility, Narrow vertebr... OMIM:618395
Temple Syndrome
Precocious puberty, Small hand, Recurrent hypoglycemia, Decreased response to growth hormone stim... ORPHA:254516
Aicardi-Goutieres Syndrome 9
Spasticity, Hepatosplenomegaly, Hepatic steatosis, Weight loss, Hepatomegaly, Spastic tetraparesi... OMIM:619487
Slc39A8-Cdg
Osteopenia, Cutaneous syndactyly of toes, Disproportionate short-limb short stature, Elbow flexio... ORPHA:468699
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Neonatal hypotonia, Postnatal growth retardation, Dysplasia of the femo... ORPHA:536467
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... OMIM:313400
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis,... OMIM:613320
Aromatase Deficiency
Delayed epiphyseal ossification, Osteopenia, Insulin resistance, Obesity, Genu valgum, Hyperlipid... ORPHA:91
Mitochondrial Complex I Deficiency, Nuclear Type 23
Growth delay, Generalized hypotonia, Hypotonia, Dystonia, Scoliosis OMIM:618244
Sandhoff Disease, Adult Form
Spasticity, Tremor, Elevated circulating creatine kinase concentration, Focal dystonia, Dystonia ORPHA:309169
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ... ORPHA:209919
Stüve-Wiedemann Syndrome
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Talipes equinovarus, Flexion... ORPHA:3206
Hyperparathyroidism, Transient Neonatal
Osteopenia, Fractured rib, Hyperparathyroidism, Metaphyseal spurs, Femoral bowing, Splenic cyst, ... OMIM:618188
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Intrauterine growth retardation, Dystonia, Spastic tetraplegia, Axial hypotonia OMIM:251280
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Postural tremor, Pes cavus, Cogwheel rigidity, Talipes equinovarus, T... OMIM:128230
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Abnormal trabecular bone morphology, Pseudo-fractures, Lower limb asymmet... ORPHA:289176
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Type I diabetes mellitus, Carpal osteolysis, Abnormal form of the vertebral bodies, A... ORPHA:371428
Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction
Dystonia, Spasticity, Short stature, Spastic tetraparesis OMIM:620515
Acromicric Dysplasia
Severe short stature, Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Ovoid vertebral b... OMIM:102370
Dominant Beta-Thalassemia
Hepatic fibrosis, Abnormality of iron homeostasis, Growth delay, Hypopituitarism, Failure to thri... ORPHA:231226
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Genu valgum, Micrognathia, Disproportionate short-trunk short stature,... ORPHA:93316
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Osteopenia, Elevated circulating hepatic transaminase concentration, Failure ... OMIM:613327
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Abnormal epiphysis morphology, Premature epimetaphyseal fusion, Limitation of joint m... ORPHA:85435
Prader-Willi Syndrome
Premature adrenarche, Small hand, Central adrenal insufficiency, Short foot, Precocious puberty, ... ORPHA:739
Xp21 Deletion Syndrome
Spasticity, Growth delay, Neonatal hypotonia, Finger clinodactyly, Adrenal insufficiency, Primary... ORPHA:261476
Idiopathic Juvenile Osteoporosis
Osteoporosis, Vertebral compression fracture, Kyphosis, Recurrent fractures ORPHA:85193
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Camptodactyly, Osteoporosis, Growth delay, Syndactyly OMIM:616006
Spondylometaphyseal Dysplasia, Pagnamenta Type
Platyspondyly, Rhizomelia, Broad thumb, Short 5th metacarpal, Hypotonia, Femoral bowing, Short 4t... OMIM:619638
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Postnatal growth retardation, Broad foot, Short neck, Pes plan... OMIM:615777
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hand clenching, Scoliosis, Generalized hypotonia, Micrognathia, Talipes equinovarus, Short neck, ... OMIM:611890
Kniest Dysplasia
Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Short neck, Dispr... OMIM:156550
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, ... ORPHA:1423
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Scoliosis, Amelia, Short femur OMIM:601357
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... OMIM:223800
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... OMIM:602347
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... OMIM:619662
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Micromelia, Abnormal femur morphology, Short stature, Red... ORPHA:1508
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Failure to thrive, Generalized hypotonia, Intrauterine growth retardation, Dystonia, Fl... OMIM:618237
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Osteopenia, Decreased response to growth hormone stimulation test, Postnata... OMIM:614732
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Platyspondyly, Osteopenia, Joint contracture of the hand, Broad femoral neck, Flared metaphysis, ... OMIM:612350
Intellectual Developmental Disorder, X-Linked, Syndromic 35
2-3 toe cutaneous syndactyly, Cutaneous syndactyly of toes, Central hypothyroidism, Contracture o... OMIM:300998
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Abnormal pelvic girdle bone morphology, Lumbar hyperlordosis, Elevated circulating creatine kinas... OMIM:167320
Severe Intellectual Disability And Progressive Spastic Paraplegia
Genu recurvatum, Spasticity, Progressive spastic paraplegia, Hypotonia, Acetabular dysplasia, Gen... ORPHA:280763
Occipital Horn Syndrome
Synostosis of joints, Osteomalacia, Cholestasis, Humerus varus, Genu valgum, Pes planus, Abnormal... ORPHA:198
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cholestasis, Hepatic steatosis, Increased body weight, Cirrhosis, Hepatomegaly, Portal fibrosis, ... ORPHA:264580
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteopenia, Spasticity, Generalized hypotonia, Tremor, Osteoporosis ORPHA:529665
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Fibular bowing... ORPHA:1427
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Small hand, Clinodactyly, Maturity-onset diabetes of the young, Postnatal gro... ORPHA:96184
Pachydermoperiostosis
Small hand, Clubbing of toes, Abnormal epiphysis morphology, Limitation of joint mobility, Palmop... ORPHA:2796
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Glycosuria, Osteomalacia, Fibular bo... OMIM:300009
Megalencephalic Leukoencephalopathy With Subcortical Cysts 3
Spasticity, Rigidity, Lower limb spasticity, Dystonia, Upper limb spasticity OMIM:620447
Ollier Disease
Precocious puberty, Platyspondyly, Micromelia, Abnormal cartilage morphology, Joint stiffness, Mu... ORPHA:296
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Osteopenia, Rhizomelia, Small for gestational age, Microretrognathia, Decreased ca... OMIM:616229
Congenital Myopathy 22A, Classic
Kyphosis, Neonatal hypotonia, Generalized hypotonia, Hypotonia, Micrognathia, Knee contracture, H... OMIM:620351
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... ORPHA:79240
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Magel2-Related Prader-Willi-Like Syndrome
Small hand, Neonatal hypotonia, Absence of pubertal development, Type II diabetes mellitus, Incre... ORPHA:398069
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Osteoporosis, Hypogonadotropic hypogonadism, Clinodactyly OMIM:614838
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Coarse metaphyseal trabecularization, Abnormal form of the vertebral bodies,... ORPHA:93160
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu valgum, Broad foot, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot... OMIM:250420
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Disproportionate short stature, F... OMIM:222765
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spasticity, Localized osteoporosis, Rigidity, Kyphoscoliosis, Cervical spondylosis, Back pain ORPHA:199354
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Hepatosplenomegaly,... ORPHA:96334
Dystonia With Cerebellar Atrophy
Dystonia, Craniofacial dystonia, Torticollis OMIM:611694
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Metaphyseal cupping, Rhizomelia, Radial bowing, Flared meta... OMIM:602111
Combined Oxidative Phosphorylation Deficiency 50
Generalized dystonia, Intrauterine growth retardation, Adrenal insufficiency, Hip dysplasia, Shor... OMIM:619025
Mitochondrial Complex I Deficiency, Nuclear Type 16
Spasticity, Failure to thrive, Generalized hypotonia, Adrenal insufficiency, Intrauterine growth ... OMIM:618238
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Allan-Herndon-Dudley Syndrome
Spasticity, Small for gestational age, Decreased body mass index, Neonatal hypotonia, Failure to ... ORPHA:59
Werner Syndrome
Hypogonadism, Elevated circulating aspartate aminotransferase concentration, Elevated hemoglobin ... OMIM:277700
Familial Isolated Hyperparathyroidism
Osteopenia, Elevated circulating parathyroid hormone level, Hypophosphatemia, Parathyroid adenoma... ORPHA:99879
Spastic Ataxia 1, Autosomal Dominant
Spastic paraplegia, Dystonia, Pes cavus, Leg muscle stiffness OMIM:108600
Smith-Mccort Dysplasia 1
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg... OMIM:607326
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Hypoplastic acetabulae, Kyphosis, Pes cavus, Splenomegaly, Flared iliac wing, Hepa... OMIM:230650
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Osteopenia, Kyphosis, Pathologic fracture, Hypotonia, Increased susceptibility to ... OMIM:259770
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Hip dislo... OMIM:268305
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... OMIM:258860
Arthrogryposis, Distal, Type 4
Osteopenia, Kyphosis, Camptodactyly of 2nd-5th fingers, Equinovarus deformity, Deviation of the 2... OMIM:609128
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Generalized hypotonia, Elevated circulating phytanic acid concentration, Hypot... OMIM:266510
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Small hand, Male hypogonadism, Resting tremor, Obesity, Micrognathia, Facial ... OMIM:300055
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Decreased circulating parathyroid hormone level, Increased circulating beta-C-terminal telopeptid... ORPHA:157215
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Growth delay, Failure to thrive, Pathologic fracture, Decreased serum leptin, ... OMIM:614008
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Cutaneous finger syndactyly, Type... OMIM:113000
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... OMIM:619484
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Aplasia... ORPHA:485
Beta-Thalassemia Major
Hepatic fibrosis, Abnormality of iron homeostasis, Growth delay, Hypopituitarism, Failure to thri... ORPHA:231214
X Small Rings
Toe syndactyly, Growth delay, Neonatal hypotonia, Upper limb undergrowth, Lower limb undergrowth,... ORPHA:96201
Laron Syndrome
Severe short stature, Delayed menarche, Decreased serum insulin-like growth factor 1, Limb underg... OMIM:262500
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic ischia, Ovoi... OMIM:151210
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Hypoplastic iliac wing, Postnatal growth retardation, Carpal bon... OMIM:611717
Autosomal Recessive Spastic Paraplegia Type 56
Spastic gait, Spastic paraplegia, Dystonia ORPHA:320411
Cantú Syndrome
Platyspondyly, Short distal phalanx of finger, Finger syndactyly, Deep plantar creases, Ovoid ver... ORPHA:1517
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Radial deviation of finger, Generalized hypotonia, Preaxial hand po... OMIM:277170
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Small hand, Neonatal hypotonia, Clinodactyly, Postnatal growth retardation, H... ORPHA:254525
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Osteopenia, Disproportionate short-limb short stature, Radial bowing, Slender long... OMIM:610915
Lopes-Maciel-Rodan Syndrome
Spasticity, Small hand, Tremor, Ankle clonus, Hypertonia, Dystonia, Short foot, Scoliosis, Kyphos... OMIM:617435
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Spasticity, Osteomalacia, Micrognathia, Short neck, Abnormal metacarpal morphology, Short palm, A... ORPHA:2636
Roifman Syndrome
Epiphyseal dysplasia, Biconvex vertebral bodies, Short toe, Generalized hypotonia, Postnatal grow... ORPHA:353298
Orofaciodigital Syndrome Ix
Toe syndactyly, Short tibia, Hand polydactyly, Camptodactyly, Short stature OMIM:258865
Post-Traumatic Pituitary Deficiency
Osteopenia, Hypoglycemia, Decreased response to growth hormone stimulation test, Decreased circul... ORPHA:95619
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Intrauterine growth retardat... ORPHA:26792
Dystonia 28, Childhood-Onset
Spasticity, Laryngeal dystonia, Retrocollis, Tremor, Craniofacial dystonia, Torticollis, Oromandi... OMIM:617284
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... OMIM:166740
Premature Aging Syndrome, Penttinen Type
Short distal phalanx of finger, Slender long bone, Elevated circulating thyroid-stimulating hormo... OMIM:601812
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Platyspondyly, Osteopenia, Proximal femoral epiphysiolysis, Generalized hypotonia, Small epiphyse... OMIM:616723
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Leukoencephalopathy, Brain Calcifications, And Cysts
Dystonia, Spasticity, Tremor OMIM:614561
Idiopathic Hypercalciuria
Osteoporosis, Osteopenia ORPHA:2197
Schwartz-Jampel Syndrome
Genu valgum, Micrognathia, Hip contracture, Decreased body weight, Bowing of the long bones, Tali... ORPHA:800
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Dislocation of the femoral h... OMIM:616007
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Mednik Syndrome
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... ORPHA:171851
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Short tibia, Abnormal circulating ceruloplasmin concen... OMIM:620306
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Absent pubertal growth spurt, Kyphosis, Structural foot deformity, Progressive spasti... ORPHA:464282
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Generalized hypotonia, Hypotonia, Glucose intolerance, Joint contracture of th... OMIM:614407
Frank-Ter Haar Syndrome
Micrognathia, Anterior concavity of thoracic vertebrae, Bowing of the long bones, Talipes equinov... OMIM:249420
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Gorham-Stout Disease
Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Abnormal femur morphology,... ORPHA:73
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Female hypogonadism, Male hypogonadism, Absence of secondary sex characteristics, Abs... ORPHA:432
Intermediate Osteopetrosis
Erlenmeyer flask deformity of the femurs, Sandwich appearance of vertebral bodies, Cortical scler... ORPHA:210110
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Kyphosis, Generalized dystonia, Generalized hypotonia, Absent Achilles reflex, Hyp... OMIM:128100
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Spasticity, Hepatic failure, Elevated circulating hepatic transaminase concentr... ORPHA:541423
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Osteopenia, Generalized hypotonia, Hypotonia, Large for gestational ... OMIM:615398
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Preaxial polydactyly, Micrognathia, Absent gallbladder, Fibular hypoplasia, Postaxia... OMIM:617925
Epilepsy, Nocturnal Frontal Lobe, 4
Dystonia OMIM:610353
Lathosterolosis
2-3 toe cutaneous syndactyly, Intrahepatic cholestasis, Elevated circulating lathosterol concentr... OMIM:607330
Leukodystrophy, Hypomyelinating, 18
Spasticity, Scoliosis, Failure to thrive, Dystonia, Progressive spasticity, Flexion contracture, ... OMIM:618404
Immunodeficiency 12
Decreased body weight, Short stature, Osteoporosis, Growth delay, Clubbing OMIM:615468
Thalidomide Embryopathy
Insulin resistance, Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humeru... ORPHA:3312
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Abnormal sacral segmentation, Generalized hypotonia, Postnatal growth retardation, Obesity, Micro... ORPHA:480907
Shox-Related Short Stature
Scoliosis, Obesity, Genu valgum, Micrognathia, Ulnar radial head dislocation, Tibial bowing, Lowe... ORPHA:314795
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal vertebral morphology, Subluxation of the small joints of the hand, Dysplasia of the femo... ORPHA:536471
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,... ORPHA:73230
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Short finger, Avascular ne... OMIM:190351
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dystonia, Spasticity, Rigidity OMIM:620448
Developmental And Epileptic Encephalopathy 7
Dystonia, Hypotonia, Spastic tetraparesis OMIM:613720
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Microretrognathia, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hypoplas... OMIM:616300
Amish Lethal Microcephaly
Limitation of joint mobility, Hypotonia, Micrognathia, Decreased skull ossification, Limb hyperto... ORPHA:99742
Gnathodiaphyseal Dysplasia
Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, ... OMIM:166260
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Dystonia, Generalized hypotonia OMIM:616763
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteoporosis, Osteopenia, Hypophosphatemia, Increased susceptibility to fractures OMIM:612287
Macs Syndrome
Hypotonia, Micrognathia, Joint hypermobility, Decreased body weight, Pes planus, Brachydactyly, S... OMIM:613075
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2
Dystonia, Rigidity OMIM:619661
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum
Spastic paraplegia, Dystonia OMIM:615030
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Osteopenia, Decreased serum estradiol, Absence of secondary sex characteri... ORPHA:2232
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Generalized hypotonia, Long hallux, Hypotonia, Kyphoscoliosis, Talipes equinovarus, Short neck, L... OMIM:309583
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Hyperbilirubinemia, Micrognathia, Hip contr... OMIM:210710
Diamond-Blackfan Anemia 7
Osteopenia, Short thumb, Intrauterine growth retardation, Triphalangeal thumb, Osteoporosis, Scol... OMIM:612562
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Failure to thrive, Axial hypotonia, Tremor OMIM:619651
Dystonia 23
Head tremor, Limb dystonia, Axial dystonia, Torticollis, Writer's cramp OMIM:614860
Partington Syndrome
Limb dystonia, Lower limb spasticity, Camptodactyly, Focal dystonia, Flexion contracture OMIM:309510
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Rickets, Failu... OMIM:212750
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated circulating hepatic transaminase concentration, Growth delay, Failure to thrive, Hypogly... ORPHA:17
Farber Disease
Hepatic fibrosis, Spasticity, Hepatic failure, Elevated circulating hepatic transaminase concentr... ORPHA:333
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Osteopenia, Hepatic failure, Rickets, Failure to thrive, Growth delay... ORPHA:2088
Laurin-Sandrow Syndrome
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Mirror image polydactyly, Preaxi... ORPHA:2378
Tenosynovial Giant Cell Tumor
Abnormality of the ankle, Limitation of joint mobility, Abnormal shoulder morphology, Localized o... ORPHA:66627
Dystonia 35, Childhood-Onset
Dystonia OMIM:619921
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Autosomal Recessive Spastic Paraplegia Type 53
Failure to thrive, Upper limb hypertonia, Limb dystonia, Joint hypermobility, Kyphosis ORPHA:319199
Richieri Costa-Da Silva Syndrome
Vertebral wedging, Decreased anterioposterior diameter of lumbar vertebral bodies, Genu valgum, K... ORPHA:3101
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Hypoplastic ilia, Osteopenia, Platyspondyly, Flared metaphysis, Carpal syno... OMIM:615349
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Dystonia 28
Precocious puberty, Arm dystonia, Generalized dystonia, Leg dystonia, Hypothyroidism, Oromandibul... ORPHA:589618
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Disproportionate short-trunk short stature,... OMIM:300106
Citrullinemia, Type Ii, Neonatal-Onset
Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula... OMIM:605814
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Leg muscle stiffness, Pes cavus, Tremor, Lower limb spasticity, Hypertonia, S... ORPHA:251282
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,... OMIM:600002
Hypermanganesemia With Dystonia 2
Spasticity, Generalized dystonia, Hypotonia, Limb dystonia, Tremor, Elevated circulating creatine... OMIM:617013
Brittle Cornea Syndrome
Abnormal epiphysis morphology, Neonatal hypotonia, Increased susceptibility to fractures, Joint h... ORPHA:90354
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Micrognathia, Vertebral segmentation defect, Hypertonia, Scoliosis, Reduced... ORPHA:2617
Striatonigral Degeneration, Infantile
Dystonia, Spasticity, Choreoathetosis, Failure to thrive OMIM:271930
Hajdu-Cheney Syndrome
Foot acroosteolysis, Osteopenia, Failure to thrive, Tall lumbar vertebral bodies, Pathologic frac... OMIM:102500
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteoporosis, Osteopenia, Hypophosphatemia, Increased susceptibility to fractures OMIM:612286
Microcephalic osteodysplastic primordial dwarfism, type III
Severe short stature, Ulnar deviation of finger, Slender long bone, Generalized hypotonia, Hypopl...