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Gene: Slc39a14 MGI:2384851

Gene Summary

Name:

solute carrier family 39 (zinc transporter), member 14

Synonyms:

Zip14, G630015O18Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
preweaning lethality, incomplete penetrance		Slc39a14^{tm1b(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

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Immunophenotyping

Panel B FCS file(s)

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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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.

Human diseases associated with Slc39a14 (3 diseases)
Human diseases predicted to be associated with Slc39a14 (1241 diseases)

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

Disease	Matching phenotypes	Source
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Infantile axial hypotonia, Multiple joint contractures, Tremor, Ankle clonus, Scissor...	ORPHA:521406
Hypermanganesemia With Dystonia 2	Spasticity, Generalized dystonia, Hypotonia, Limb dystonia, Tremor, Elevated circulating creatine...	OMIM:617013
Hyperostosis Cranialis Interna	Osteosclerosis of the base of the skull, Hyperostosis cranialis interna, Calvarial hyperostosis	OMIM:144755

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

Disease	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...	OMIM:210730
Werner Syndrome	Insulin resistance, Small hand, Hypogonadism, Slender build, Joint stiffness, Thyroid carcinoma, ...	ORPHA:902
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased circulating iron concentration, Elevated hepatic iron concentration	OMIM:206100
Hajdu-Cheney Syndrome	Micrognathia, Decreased skull ossification, Bowing of the long bones, Absent frontal sinuses, Sho...	ORPHA:955
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Dystonia, Hypotonia, Spasticity, Failure to thrive	OMIM:618276
Premature Aging Syndrome, Okamoto Type	Osteoporosis, Diabetes mellitus	OMIM:601811
Linear Verrucous Nevus Syndrome	Genu recurvatum, Toe syndactyly, Talipes, Hypophosphatemia, Scoliosis, Reduced bone mineral densi...	ORPHA:2611
Leukodystrophy, Hypomyelinating, 14	Dystonia, Spasticity, Growth delay, Generalized hypotonia	OMIM:617899
Osteogenesis Imperfecta, Type Xi	Osteopenia, Vertebral wedging, Increased susceptibility to fractures, Biconcave vertebral bodies,...	OMIM:610968
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Radioulnar synosto...	OMIM:134780
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp...	OMIM:215140
Omodysplasia 1	Rhizomelia, Disproportionate short-limb short stature, Short tibia, Limited knee flexion/extensio...	OMIM:258315
Spondylometaphyseal Dysplasia, Algerian Type	Severe short stature, Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the ha...	OMIM:184253
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Short stature, Osteoporosis	OMIM:620532
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob...	OMIM:114000
Functioning Gonadotropic Adenoma	Osteopenia, Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation...	ORPHA:91348
Bruck Syndrome 2	Platyspondyly, Osteopenia, Elbow flexion contracture, Femoral bowing, Increased susceptibility to...	OMIM:609220
Developmental And Epileptic Encephalopathy 69	Congenital contracture, Dystonia, Arthrogryposis multiplex congenita, Spastic tetraplegia, Axial ...	OMIM:618285
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Delayed menarche, Tremor, Dystonia, Scoliosis	ORPHA:330050
Dystonia 31	Arm dystonia, Generalized dystonia, Leg dystonia, Craniofacial dystonia, Writer's cramp	OMIM:619565
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Postnatal growth retardation, Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies...	OMIM:608940
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tu...	ORPHA:85184
Mucopolysaccharidosis Type 4	Platyspondyly, Abnormal epiphysis morphology, Spinal canal stenosis, Genu valgum, Reduced bone mi...	ORPHA:582
Foxg1 Syndrome	Spasticity, Hypotonia, Decreased body weight, Kyphoscoliosis, Severe postnatal growth retardation...	ORPHA:561854
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia...	ORPHA:988
Alg3-Cdg	Osteopenia, Decreased liver function, Spastic tetraparesis, Hypotonia, Abnormality of the endocri...	ORPHA:79321
Paroxysmal Non-Kinesigenic Dyskinesia	Joint stiffness, Rigidity, Torticollis, Dystonia, Choreoathetosis	ORPHA:98810
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Disproportionate short-limb short stature, Short femoral neck, Flared metaphysis, Short palm, Equ...	ORPHA:2502
Acromesomelic Dysplasia 3	Elevated circulating luteinizing hormone level, Carpal synostosis, Fibular aplasia, Broad foot, T...	OMIM:609441
Perrault Syndrome 4	Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Increased circulating gonadotropin l...	OMIM:615300
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Hypophosphatemia, Short stature, Bowing of the legs	OMIM:146350
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Short distal phalanx of finger, Small hand, Cone-shaped epiphysis, Osteopenia, Clinodactyly, Smal...	OMIM:614813
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Platyspondyly, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared ...	OMIM:215150
Multiple Osteochondromas	Limitation of joint mobility, Abnormal tibia morphology, Limited hip movement, Abnormal hand morp...	ORPHA:321
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
Congenital Disorder Of Glycosylation, Type Iig	Small hand, Shallow acetabular fossae, Postnatal growth retardation, Micrognathia, Talipes equino...	OMIM:611209
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Postnatal growt...	ORPHA:453533
Baralle-Macken Syndrome	Spasticity, Neonatal hypotonia, Obesity, Pes planus, Dystonia, Kyphosis, Tapered finger	OMIM:619255
X-Linked Hypophosphatemia	Limitation of joint mobility, Genu valgum, Bowing of the long bones, Hypophosphatemia, Vertebral ...	ORPHA:89936
Refractory Celiac Disease	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypomagnesemia, Abnorma...	ORPHA:398063
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Small hand, Hyperphosphatemia, Decreased response to growth hormone stimul...	OMIM:241410
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula...	OMIM:613812
Baker-Gordon Syndrome	Neonatal hypotonia, Abnormal foot morphology, Joint hypermobility, Dystonia, Scoliosis, Choreoath...	OMIM:618218
Cleidocranial Dysplasia 2	Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Osteopenia, Failure to thrive, Ge...	OMIM:620099
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Hepatic fibrosis, Spasticity, Osteopenia, Intrauterine growth retardation, Portal hypertension, D...	OMIM:617341
46,Xx Gonadal Dysgenesis	Osteopenia, Decreased serum estradiol, Streak ovary, Arachnodactyly, Delayed puberty, Short statu...	ORPHA:243
Metaphyseal Chondrodysplasia, Jansen Type	Severe short stature, Osteopenia, Metaphyseal cupping, Pathologic fracture, Micrognathia, Hip con...	OMIM:156400
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Intrauterine growth retardation, Micrognathia, Splenomegaly, Tibial bowing, Lower ...	ORPHA:3035
Stuve-Wiedemann Syndrome 2	Intrauterine growth retardation, Bowing of the long bones, Short long bone, Camptodactyly, Scoliosis	OMIM:619751
Osteogenesis Imperfecta, Type Ii	Platyspondyly, Abnormal pelvic girdle bone morphology, Small for gestational age, Disproportionat...	OMIM:166210
Developmental And Epileptic Encephalopathy 53	Hypotonia, Dystonia, Spastic tetraplegia, Elevated circulating creatine kinase concentration	OMIM:617389
Schneckenbecken Dysplasia	Platyspondyly, Hypoplastic scapulae, Disproportionate short-limb short stature, Advanced tarsal o...	OMIM:269250
Stxbp1-Related Encephalopathy	Spasticity, Hypotonia, Tremor, Dystonia, Spastic tetraplegia	ORPHA:599373
Microphthalmia With Limb Anomalies	Toe syndactyly, Postaxial foot polydactyly, Postnatal growth retardation, Talipes equinovarus, 2-...	OMIM:206920
Catel-Manzke Syndrome	Hyperphalangy of the 2nd finger, Short toe, Ulnar deviation of the 2nd finger, Postnatal growth r...	OMIM:616145
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Pes cavus, Tremor, Torticollis, Dystonia, Axial hypotonia	OMIM:607317
Myoclonus-Dystonia Syndrome	Dystonia, Torticollis, Writer's cramp	ORPHA:36899
Atypical Rett Syndrome	Spasticity, Small hand, Pill-rolling tremor, Neonatal hypotonia, Scoliosis, Abnormal muscle tone,...	ORPHA:3095
Pde4D Haploinsufficiency Syndrome	Neonatal hypotonia, Postnatal growth retardation, Micrognathia, Broad foot, Pes planus, Broad pha...	ORPHA:439822
Three M Syndrome 1	Short 5th finger, Small for gestational age, Slender long bone, Postnatal growth retardation, Int...	OMIM:273750
Turner Syndrome Due To Structural X Chromosome Anomalies	Postnatal growth retardation, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Hepatic s...	ORPHA:99413
Mosaic Monosomy X	Postnatal growth retardation, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Hepatic s...	ORPHA:99228
Monosomy X	Postnatal growth retardation, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Hepatic s...	ORPHA:99226
Turner Syndrome	Postnatal growth retardation, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Hepatic s...	ORPHA:881
Glycogen Storage Disease Ia	Elevated circulating hepatic transaminase concentration, Growth delay, Hypoglycemia, Hyperlipidem...	OMIM:232200
Gm1 Gangliosidosis	Spasticity, Hepatosplenomegaly, Weight loss, Coarse metaphyseal trabecularization, Dystonia, Plat...	ORPHA:354
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Postnatal growth retardation, Joint stiffness, Hypotonia, Splenomegaly, Joint hypermobility, Shor...	OMIM:620210
Wilson Disease	Hypouricemia, Osteomalacia, Acute hepatic failure, Hyperbilirubinemia, Limb dystonia, Hepatic ste...	OMIM:277900
Mucolipidosis Type Iii Alpha/Beta	Postnatal growth retardation, Joint stiffness, Kyphoscoliosis, Short neck, Short stature, General...	ORPHA:423461
Indolent Systemic Mastocytosis	Hepatomegaly, Osteoporosis, Splenomegaly	ORPHA:98848
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Joint hypermobility, Hypogonadotropic hypogonadism, Delayed pub...	OMIM:619718
Mitochondrial Complex I Deficiency, Nuclear Type 8	Generalized hypotonia, Stiff neck, Axial dystonia, Kyphoscoliosis, Pancreatitis, Dystonia	OMIM:618230
Wiedemann-Rautenstrauch Syndrome	Spasticity, Increased circulating prolactin concentration, Slender build, Increased serum estradi...	ORPHA:3455
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Dystonia, Hypothyroidism, Axial hypotonia, Tremor	OMIM:619647
Seizures-Scoliosis-Macrocephaly Syndrome	Hypotonia, Scoliosis, Reduced bone mineral density, Overlapping toe	ORPHA:466926
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Cholestasis, Obesity, Genu valgum, Glucose intolerance, Spleno...	OMIM:615630
Campomelic Dysplasia	Small abnormally formed scapulae, Kyphosis, Tracheomalacia, 11 pairs of ribs, Femoral bowing, Rec...	ORPHA:140
Nasu-Hakola Disease	Spasticity, Limitation of joint mobility, Abnormal epiphysis morphology, Bone cyst, Reduced bone ...	ORPHA:2770
Occipital Horn Syndrome	Platyspondyly, Decreased circulating ceruloplasmin concentration, Genu valgum, Limited elbow exte...	OMIM:304150
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Severe short stature, Joint contracture of the hand, Neonatal short-limb short stature, Limitatio...	OMIM:224400
Osteogenesis Imperfecta	Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Micrognathia, Decreased skul...	ORPHA:666
Intellectual Developmental Disorder, Autosomal Dominant 53	Infantile axial hypotonia, Hypotonia, Genu valgum, Joint hypermobility, Growth delay, Short femur	OMIM:617798
Atypical Werner Syndrome	Limitation of joint mobility, Insulin-resistant diabetes mellitus, Sclerosis of hand bone, Hyperg...	ORPHA:79474
Mitochondrial Complex I Deficiency, Nuclear Type 17	Generalized dystonia, Hypotonia, Rigidity, Pes planus, Dystonia, Scoliosis	OMIM:618239
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol concentration, F...	ORPHA:289548
Primary Dystonia, Dyt21 Type	Blepharospasm, Generalized dystonia, Laryngeal dystonia, Limb dystonia, Axial dystonia, Paroxysma...	ORPHA:306734
Osteogenesis Imperfecta, Type Iv	Femoral bowing present at birth, straightening with time, Kyphosis, Increased susceptibility to f...	OMIM:166220
Hutchinson-Gilford Progeria Syndrome	Generalized osteoporosis, Micrognathia, Growth delay, Osteolysis	OMIM:176670
Encephalopathy Due To Prosaposin Deficiency	Dystonia, Hepatomegaly, Hypotonia, Splenomegaly	ORPHA:139406
Spastic Paraplegia 53, Autosomal Recessive	Spastic paraplegia, Upper limb hypertonia, Joint hypermobility, Dystonia, Kyphosis, Lower limb hy...	OMIM:614898
Acrocephalopolydactyly	Genu recurvatum, Hepatosplenomegaly, Short neck, Limb undergrowth, Brachydactyly, Short long bone	ORPHA:221054
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Elbow flexion contracture, Intrauterine growth retardation, Pes planus, Osteoporosis,...	OMIM:614438
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol concentration, F...	ORPHA:168558
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ...	OMIM:250220
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Genu varu...	OMIM:271510
Neu-Laxova Syndrome	Osteopenia, Rickets, Micromelia, Osteomalacia, Hypogonadism, Intrauterine growth retardation, Mic...	ORPHA:2671
Amyotrophic Lateral Sclerosis 2, Juvenile	Spasticity, Arm dystonia, Scoliosis, Generalized dystonia, Spastic diplegia, Retrocollis, Spastic...	OMIM:205100
Atelosteogenesis, Type Iii	Tombstone-shaped proximal phalanges, Rhizomelia, Cervical kyphosis, Radial bowing, Sandal gap, Kn...	OMIM:108721
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Type I diabetes mellitus, Palmoplantar keratoderma, Abnormal circulating lipid concentration, Joi...	ORPHA:1979
Aicardi-Goutieres Syndrome 3	Spasticity, Elevated circulating hepatic transaminase concentration, Generalized hypotonia, Hypot...	OMIM:610329
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Postnatal growth re...	OMIM:210720
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy	Dystonia	OMIM:619196
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata...	ORPHA:85170
Spastic Paraplegia 26, Autosomal Recessive	Spastic paraplegia, Decreased serum testosterone concentration, Pes cavus, Lower limb spasticity,...	OMIM:609195
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Neonatal hypotonia, Elbow flexion contracture, Hypotonia, Generalized joint hypermobi...	ORPHA:1900
Aggressive Systemic Mastocytosis	Decreased liver function, Pathologic fracture, Hepatosplenomegaly, Hypersplenism, Portal hyperten...	ORPHA:98850
Adrenomyodystrophy	Failure to thrive, Hypotonia, Primary adrenal insufficiency, Hepatic steatosis, Short stature, Re...	ORPHA:977
Senior-Loken Syndrome 9	Hepatic fibrosis, Osteopenia, Cholestasis, Hypogonadism, Obesity, Polydactyly, Hypoplasia of the ...	OMIM:616629
Pseudohypoparathyroidism Type 1A	Hyperphosphatemia, Short neck, Calcinosis, Short metacarpal, Choreoathetosis, Broad distal phalan...	ORPHA:79443
Cooper-Jabs Syndrome	Camptodactyly of finger, Hypotonia, Abnormal hip bone morphology, Reduced bone mineral density, J...	ORPHA:1488
Ataxia-Oculomotor Apraxia Type 4	Obesity, Pes cavus, Kyphoscoliosis, Distal lower limb muscle weakness, Dystonia, Abnormal toe mor...	ORPHA:459033
Craniofaciofrontodigital Syndrome	Osteopenia, Hypotonia, Large for gestational age, Finger joint hypermobility, Joint hypermobility...	ORPHA:363705
Cardiofaciocutaneous Syndrome 3	Failure to thrive, Hypotonia, Short neck, Short stature, Scoliosis, Reduced bone mineral density	OMIM:615279
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Broad foot, Pes planus, ...	ORPHA:93357
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin-resistant diabetes mellitus, Postnatal growth retardation, Hyperinsulinemia, Micrognathia...	OMIM:248370
Hyperphenylalaninemia, Bh4-Deficient, C	Hypotonia, Tremor, Hyperphenylalaninemia, Hypertonia, Dystonia, Choreoathetosis	OMIM:261630
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Dystonia, Spastic tetraplegia, Infantile muscular hypotonia	ORPHA:263410
Spinocerebellar Ataxia, Autosomal Recessive 31	Pes cavus, Tremor, Lumbar kyphoscoliosis, Clinodactyly of the 5th finger, Dystonia, Growth delay,...	OMIM:619422
Hemiparkinsonism-Hemiatrophy Syndrome	Generalized hypotonia, Hemiatrophy, Tremor, Dystonia, Scoliosis	ORPHA:306669
Craniometadiaphyseal Dysplasia	Osteopenia, Absent paranasal sinuses, Flared metaphysis, Broad long bones, Sclerosis of skull bas...	OMIM:269300
Saul-Wilson Syndrome	Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of ...	OMIM:618150
Wieacker-Wolff Syndrome	Spasticity, Arthrogryposis multiplex congenita, Kyphosis, Generalized hypotonia, Hypotonia, Micro...	OMIM:314580
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Bowing of the long bones, Short metacarpal, Ovoid vertebral bodies, Hypoplastic ...	ORPHA:85167
Difference Of Sex Development-Intellectual Disability Syndrome	Hypogonadism, Genu valgum, Short neck, Spina bifida occulta, Reduced bone mineral density, Kyphosis	ORPHA:2983
Autosomal Recessive Spastic Paraplegia Type 26	Decreased serum testosterone concentration, Pes cavus, Lower limb spasticity, Dystonia, Scoliosis	ORPHA:101006
Dystonia 15, Myoclonic	Dystonia, Writer's cramp	OMIM:607488
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Spasticity, Hypotonia, Micrognathia, Spastic hemiparesis, Dystonia, Scoliosis, Spastic tetraplegia	OMIM:619616
Dystonia-Deafness Syndrome 1	Hypoplastic scapulae, Oculogyric crisis, Generalized dystonia, Leg dystonia, Kyphoscoliosis, Femo...	OMIM:607371
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Hypotonia, Dystonia, Osteopenia, Generalized hypotonia	OMIM:617268
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Short neck, Broad phalanx, Sh...	OMIM:271665
Dysosteosclerosis	Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, A...	OMIM:224300
Filippi Syndrome	2-4 toe syndactyly, Finger clinodactyly, Postnatal growth retardation, Intrauterine growth retard...	OMIM:272440
Free Sialic Acid Storage Disease	Spasticity, Abnormal foot morphology, Failure to thrive in infancy, Hypotonia, Splenomegaly, Hepa...	ORPHA:834
Aromatic L-Amino Acid Decarboxylase Deficiency	Oculogyric crisis, Failure to thrive, Increased circulating prolactin concentration, Hypoglycemia...	ORPHA:35708
Cranioectodermal Dysplasia 1	Clinodactyly, Broad distal phalanges of all fingers, Broad toe, Flattened epiphysis, Hepatomegaly...	OMIM:218330
Developmental And Epileptic Encephalopathy 44	Spasticity, Failure to thrive, Short stature, Dystonia, Athetosis, Axial hypotonia	OMIM:617132
Ritscher-Schinzel Syndrome 3	Short 1st metacarpal, Short first metatarsal, Postnatal growth retardation, Epiphyseal stippling,...	OMIM:619135
Tbck-Related Intellectual Disability Syndrome	Neonatal hypotonia, Clinodactyly, Abnormal circulating lipid concentration, Decreased response to...	ORPHA:488632
Spinocerebellar Ataxia-Dysmorphism Syndrome	Genu recurvatum, Slender long bone, Hypotonia, Joint hypermobility, Short stature, Spina bifida o...	ORPHA:1185
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Episodic Kinesigenic Dyskinesia 3	Dystonia, Choreoathetosis, Torticollis	OMIM:620245
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o...	OMIM:252500
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Osteopenia, Type I diabetes mellitus, Platyspondyly, Growth delay, Short toe,...	OMIM:619269
Neurodegeneration With Brain Iron Accumulation 7	Hypotonia, Pes cavus, Tremor, Lower limb spasticity, Increased circulating very long-chain fatty ...	OMIM:617916
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Disproportionate short stature, Synostosis of carpal bones, Micromelia...	ORPHA:2634
Raynaud-Claes Syndrome	Generalized hypotonia, Hypotonia, Lower limb spasticity, Dystonia, Scoliosis	OMIM:300114
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Small hand, Annular pancreas, Short thumb, Hypogonadism, Micrognathia...	OMIM:268400
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Infancy onset short-trunk short stature, Talipes, Short neck, Short ...	ORPHA:508488
Spinocerebellar Ataxia Type 28	Spasticity, Head tremor, Limb dystonia, Rigidity, Dystonia, Kinetic tremor	ORPHA:101109
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Micrognathia, Arachnodactyly, Talipes equinovarus, Short hallux, P...	ORPHA:280
Lowry-Maclean Syndrome	Osteopenia, Abnormality of the abdominal organs, Growth delay, Intrauterine growth retardation, M...	ORPHA:2409
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Leukodystrophy, Hypomyelinating, 21	Failure to thrive, Hypogonadotropic hypogonadism, Dystonia, Athetosis, Growth delay	OMIM:619310
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated circulating hepatic transaminase concentration, Neonatal hypotonia, Hypotonia, Hypertoni...	OMIM:264470
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Rigidity, Talipes equinovarus, Scissor gait, Lower limb spasticity, Dystonia	OMIM:260300
Oncogenic Osteomalacia	Abnormal vertebral morphology, Abnormal foot morphology, Pathologic fracture, Abnormality of the ...	ORPHA:352540
Czech Dysplasia	Platyspondyly, Limitation of joint mobility, Short toe, Thoracic kyphosis, Intervertebral space n...	OMIM:609162
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Limitation of joint mobility, Osteolytic defects of the phalanges of the hand, Palmop...	OMIM:259100
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine con...	OMIM:620366
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Dystonia, Axial hypotonia, Tremor, Torticollis	OMIM:618425
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating hepatic transaminase concentration, Resting tremor, Failure to thrive, Gener...	ORPHA:254892
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Disproportionate short-limb sh...	OMIM:187600
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis, Micrognathia, Decreased skull ossification, Narrow greater sciatic notch, Sh...	OMIM:263210
Mucolipidosis Iii Alpha/Beta	Increased serum beta-hexosaminidase, Shallow acetabular fossae, Limitation of joint mobility, Irr...	OMIM:252600
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Short neck, Metaphyseal dysplasia, Diaphyseal undertubulati...	ORPHA:175
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Primary Dystonia, Dyt6 Type	Blepharospasm, Generalized dystonia, Laryngeal dystonia, Limb dystonia, Craniofacial dystonia, Li...	ORPHA:98806
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Hypogonadism, Decreased serum testosterone concentration, Splenomegaly, Tremor...	OMIM:201100
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Tremor, Hypertriglyceridemia, Hepatomegaly, Dystonia	OMIM:615924
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Failure to thrive in infancy, Dystonia, Short stature, Spastic diplegia	OMIM:619065
Cole-Carpenter Syndrome 2	Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Microretrognathia, Platyspondy...	OMIM:616294
Cerebrotendinous Xanthomatosis	Osteopenia, Spasticity, Spastic paraparesis, Cholelithiasis, Resting tremor, Abnormality of the v...	ORPHA:909
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening...	OMIM:114290
Myoclonus, Familial, 2	Dystonia	OMIM:618364
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Splenomegaly, Elevated hepatic iron concentration, ...	OMIM:615234
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Micrognathia, Talipes equinovarus, Aplasia/hypoplasia o...	ORPHA:2839
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta...	OMIM:227270
Congenital Disorder Of Deglycosylation 1	Hepatic fibrosis, Small hand, Elevated circulating hepatic transaminase concentration, Hypotonia,...	OMIM:615273
Juvenile Amyotrophic Lateral Sclerosis	Arm dystonia, Upper-limb joint contracture, Spastic diplegia, Retrocollis, Axial dystonia, Opisth...	ORPHA:300605
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Fibular aplasia, Micrognathia, Aplasia/hypoplasia...	ORPHA:3320
Pelizaeus-Merzbacher Disease	Spasticity, Kyphosis, Failure to thrive in infancy, Hypotonia, Joint stiffness, Cachexia, Short s...	ORPHA:702
Menkes Disease	Spasticity, Hypoglycemia, Osteomyelitis, Hypotonia, Micrognathia, Intrauterine growth retardation...	ORPHA:565
Dent Disease	Delayed epiphyseal ossification, Renal hypophosphatemia, Rickets, Bulging epiphyses, Glycosuria, ...	ORPHA:1652
Intellectual Developmental Disorder, X-Linked 111	Dystonia, Spasticity, Kyphoscoliosis	OMIM:301107
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy	Dystonia, Spasticity, Spastic dysarthria, Scoliosis	ORPHA:314603
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Tremor, Rigidity, Limb hypertonia, Dystonia, Growth delay, Small for gestation...	ORPHA:70594
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Platyspondyly, Polysyndactyly of hallux, Hepatic fibrosis, Postaxial polysyndactyly of foot, Prea...	OMIM:263520
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Failure to thrive, Hypoglycemia, Hypotonia, Intrauterine growth retardation, Kyphosco...	OMIM:618005
Dystonia 22, Juvenile-Onset	Generalized dystonia, Laryngeal dystonia, Lower limb spasticity, Torticollis, Oromandibular dysto...	OMIM:620453
Kyphoscoliotic Ehlers-Danlos Syndrome	Congenital hip dislocation, Osteopenia, Atlantoaxial instability, Congenital kyphoscoliosis, Neon...	ORPHA:536545
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia...	OMIM:119100
Xylt1-Cdg	Broad thumb, Growth delay, Clinodactyly, Flared metaphysis, Joint hypermobility, Short clavicles,...	ORPHA:370930
Orofaciodigital Syndrome Type 2	Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,...	ORPHA:2751
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Spasticity, Oculogyric crisis, Hypotonia, Severe muscular hypotonia, Dystonia, Scoliosis	OMIM:614254
Glycogen Storage Disease Ib	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlipidemia, Splenomega...	OMIM:232220
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Osteopenia, Clubbing of toes, Hand clenching, Failure to thrive, Knee dislocation, Talipes valgus...	OMIM:620083
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Dystonia, Hypotonia, Spasticity	OMIM:617820
Combined Oxidative Phosphorylation Defect Type 13	Ankle flexion contracture, Failure to thrive, Generalized hypotonia, Intrauterine growth retardat...	ORPHA:319514
Achondrogenesis, Type Ii	Microretrognathia, Disproportionate short-limb short stature, Broad long bones, Short tubular bon...	OMIM:200610
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Hepatic cysts, Polydactyly, Brachydactyly, Short long bone, Short stature, Scoliosis	OMIM:613819
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Elevated circulating hepatic transaminase concentration, Kyphosis, Joint stiffness, Genu valgum, ...	ORPHA:394
Combined Malonic And Methylmalonic Acidemia	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Dicarbo...	ORPHA:289504
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Kyphosis, Finger syndactyly, Rudimentary fibula, Intrauterine growth retard...	ORPHA:958
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Spastic paraplegia, Tremor, Metaphyseal chondrodysplasia, Large knee, Reduced bone mineral density	ORPHA:83629
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Cholelithiasis, Rickets, Failure to thrive, Splenomegaly, Cirrhosis, Short stature, I...	OMIM:211600
Neurodegeneration With Brain Iron Accumulation 6	Spastic paraparesis, Pes cavus, Rigidity, Areflexia of lower limbs, Oromandibular dystonia, Dysto...	OMIM:615643
Dyskeratosis Congenita	Hepatic failure, Coarse metaphyseal trabecularization, Palmoplantar keratoderma, Intrauterine gro...	ORPHA:1775
Combined Oxidative Phosphorylation Deficiency 10	Spasticity, Failure to thrive, Hypoglycemia, Hypotonia, Intrauterine growth retardation, Hyperamm...	OMIM:614702
Leukoencephalopathy With Dystonia And Motor Neuropathy	Head tremor, Elevated circulating pristanic acid concentration, Torticollis, Dystonia, Intention ...	OMIM:613724
Marshall-Smith Syndrome	Slender long bone, Failure to thrive, Increased susceptibility to fractures, Joint hypermobility,...	ORPHA:561
Aicardi-Goutieres Syndrome 6	Intrauterine growth retardation, Splenomegaly, Tremor, Rigidity, Hepatomegaly, Dystonia	OMIM:615010
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary gonadal insuff...	ORPHA:90796
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,...	OMIM:203700
Dyskeratosis Congenita, Autosomal Dominant 2	Hepatic fibrosis, Failure to thrive, Palmoplantar hyperkeratosis, Short stature, Osteoporosis	OMIM:613989
Wiedemann-Rautenstrauch Syndrome	Clinodactyly, Micrognathia, Talipes equinovarus, Short neck, Large hands, Genu varum, Hypoplastic...	OMIM:264090
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Dystonia, Spasticity, Choreoathetosis, Axial hypotonia	OMIM:614249
Developmental And Epileptic Encephalopathy 29	Blepharospasm, Spasticity, Failure to thrive, Intrauterine growth retardation, Limb dystonia, Sho...	OMIM:616339
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatic steatosis, Hepatomegaly, Osteopenia, Increased susceptibility to fractures, Hypothyroidis...	ORPHA:79259
Pyruvate Dehydrogenase Deficiency	Spasticity, Osteolytic defects of the middle phalanx of the 4th toe, Hypotonia, Intrauterine grow...	ORPHA:765
Glass Syndrome	Hypotonia, Micrognathia, Arachnodactyly, Talipes equinovarus, Camptodactyly, Facial hypotonia, Ge...	OMIM:612313
Brachytelephalangic Chondrodysplasia Punctata	Hypoplastic cervical vertebrae, Postnatal growth retardation, Stippling of the epiphyses of the d...	ORPHA:79345
Chondrodysplasia Punctata 2, X-Linked Dominant	Abnormal pelvic girdle bone morphology, Rhizomelia, Failure to thrive, Postnatal growth retardati...	OMIM:302960
Kaya-Barakat-Masson Syndrome	Spasticity, Generalized hypotonia, Intrauterine growth retardation, Limb dystonia, Scoliosis, Spa...	OMIM:619125
Harel-Yoon Syndrome	Spasticity, Talipes equinovalgus, Hypotonia, Micrognathia, Hip dysplasia, Dystonia, Scoliosis, Ax...	OMIM:617183
Huntington Disease-Like 2	Dystonia, Weight loss	ORPHA:98934
Cole-Carpenter Syndrome 1	Osteopenia, Coronal craniosynostosis, Orbital craniosynostosis, Micrognathia, Short stature, Vert...	OMIM:112240
Rothmund-Thomson Syndrome Type 1	Abnormal trabecular bone morphology, Osteopenia, Small for gestational age, Growth delay, Patella...	ORPHA:221008
Cockayne Syndrome B	Severe short stature, Small for gestational age, Square pelvis bone, Limitation of joint mobility...	OMIM:133540
Dihydrolipoamide Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ...	OMIM:246900
Gaucher Disease Type 2	Spasticity, Splenomegaly, Hepatomegaly, Dystonia, Flexion contracture	ORPHA:77260
Combined Oxidative Phosphorylation Deficiency 39	Spasticity, Type I diabetes mellitus, Congenital contracture, Arthrogryposis multiplex congenita,...	OMIM:618397
Prolactinoma	Osteopenia, Female hypogonadism, Male hypogonadism, Secondary growth hormone deficiency, Adrenoco...	ORPHA:2965
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Broad distal phalanx of finger, Generalized hypotonia, Micrognathia, Joint hypermobility, Talipes...	OMIM:300990
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Postnatal growth retardation, Hyp...	OMIM:616113
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Avascular necrosis of the capi...	OMIM:619377
Lethal Kniest-Like Dysplasia	Platyspondyly, Hypoplastic ilia, Flared metaphysis, Broad long bones, Abnormal cartilage morpholo...	ORPHA:2347
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Elevat...	ORPHA:91347
Developmental And Epileptic Encephalopathy 16	Hypotonia, Dystonia, Severe muscular hypotonia	OMIM:615338
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Spasticity, Generalized hypotonia, Hypotonia, Dystonia, Increased serum pyruvate, Flexion contrac...	OMIM:619224
Autosomal Dominant Dopa-Responsive Dystonia	Rheumatoid arthritis, Generalized dystonia, Postural tremor, Pes cavus, Limb dystonia, Rigidity, ...	ORPHA:98808
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral segmentation defect, Talipes equinovarus, Short long bone, Vertebral fusion, Sacral dimple	OMIM:618845
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Impaired...	OMIM:301068
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Generalized hypotonia, Joint hypermobility, Short stature, Scoliosis, Reduced bone mineral densit...	OMIM:619115
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7	Dystonia, Hypotonia	OMIM:620359
Fibrochondrogenesis 1	Hypoplastic ischia, Platyspondyly, Hypoplastic scapulae, Small hand, Joint contracture of the han...	OMIM:228520
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Genu valgum, Intervertebral space narrowing, Narrow vertebral interpedicular distance, Talipes eq...	OMIM:143095
Opsismodysplasia	Hypoplastic ischia, Metaphyseal cupping, Hypoplasia of the odontoid process, Rhizomelia, Dispropo...	OMIM:258480
Sanjad-Sakati Syndrome	Patchy osteosclerosis, Small hand, Hyperphosphatemia, Spinal canal stenosis, Postnatal growth ret...	ORPHA:2323
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:300298
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre...	ORPHA:1788
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru...	OMIM:119800
Glycerol Kinase Deficiency	Growth delay, Hypoglycemia, Pathologic fracture, Adrenal insufficiency, Adrenocortical hypoplasia...	OMIM:307030
Pontocerebellar Hypoplasia, Type 14	Hypotonia, Dystonia, Spastic tetraplegia, Hypertonia	OMIM:619301
Aicardi-Goutieres Syndrome 2	Spastic paraplegia, Dystonia	OMIM:610181
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Generalized hypotonia, Splenomegaly, Femur fracture, Osteope...	OMIM:612301
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Elevated circulating parathyroid hormone level, Glycosuria, Osteomalacia, Hy...	OMIM:613388
Hyperphenylalaninemia, Bh4-Deficient, A	Small for gestational age, Tremor, Rigidity, Limb hypertonia, Hyperphenylalaninemia, Hypertonia, ...	OMIM:261640
Singleton-Merten Syndrome 1	Osteopenia, Shallow acetabular fossae, Expanded metatarsals with widened medullary cavities, Scol...	OMIM:182250
Rothmund-Thomson Syndrome Type 2	Abnormal trabecular bone morphology, Osteopenia, Small for gestational age, Growth delay, Patella...	ORPHA:221016
Primrose Syndrome	Genu valgum, Hip contracture, Irregular vertebral endplates, Glucose intolerance, Knee flexion co...	OMIM:259050
Pelizaeus-Merzbacher Disease	Spastic paraplegia, Failure to thrive, Generalized dystonia, Hypotonia, Intention tremor, Tremor,...	OMIM:312080
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Dystonia, Pes cavus	ORPHA:1171
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Generalized hypotonia, Hyperammonemia, Elevated circulating creatine kinase concentration, Dyston...	OMIM:618416
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm shortening, Micro...	OMIM:164745
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Progressive congenital scoliosis, Congenital hip dislocation, Osteopenia, Platyspondyly, Hypotoni...	OMIM:225400
Estrogen Resistance	Osteopenia, Hyperinsulinemia, Increased serum estradiol, Glucose intolerance, Increased circulati...	OMIM:615363
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno...	ORPHA:83451
Myopathy With Extrapyramidal Signs	Elevated circulating hepatic transaminase concentration, Extremely elevated creatine kinase, Hypo...	OMIM:615673
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Micromelia, Generalized dystonia, Femoral retroversion, Short stature, Scol...	ORPHA:79107
Lysinuric Protein Intolerance	Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Cirrhosis, Hepatome...	ORPHA:470
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Postnatal growth retardation, Hypotonia, Bicoronal synostosis, Joint stiffness, 11 pairs of ribs,...	OMIM:619184
Pontocerebellar Hypoplasia, Type 15	Hypotonia, Dystonia, Spastic tetraplegia, Hypertonia	OMIM:619302
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Bifid femur, Kyphosis, Abnormal form of the vertebral bodies, Abnormal cortica...	ORPHA:2769
Dyskeratosis Congenita, Autosomal Dominant 3	Osteopenia, Avascular necrosis of the capital femoral epiphysis, Intrauterine growth retardation,...	OMIM:613990
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Action tremor, Lingual dystonia, Hepatomegaly, Hypotriglyceridemia, Increased susceptibility to f...	ORPHA:404454
Spastic Paraplegia 80, Autosomal Dominant	Spastic paraplegia, Pes cavus, Lower limb spasticity, Dystonia, Upper limb spasticity	OMIM:618418
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development	Spastic paraplegia, Ankle clonus, Lower limb spasticity, Spastic gait, Dystonia	OMIM:607565
Developmental And Epileptic Encephalopathy 27	Dystonia, Hypotonia, Spasticity, Axial hypotonia	OMIM:616139
Filippi Syndrome	Severe short stature, Spasticity, Limitation of joint mobility, Finger syndactyly, Hypotonia, Int...	ORPHA:3255
Marbach-Rustad Progeroid Syndrome	Insulin resistance, Growth delay, Intrauterine growth retardation, Micrognathia, Short clavicles,...	OMIM:619322
Thrombocytopenia 6	Osteoporosis, Myelofibrosis	OMIM:616937
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, R...	ORPHA:79303
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Dystonia, Tremor, Rigidity	ORPHA:401901
Cog1-Cdg	Osteopenia, Rhizomelia, Failure to thrive, Generalized hypotonia, Postnatal growth retardation, H...	ORPHA:263508
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Seckel Syndrome 1	Ivory epiphyses, Sandal gap, Hypoplasia of proximal radius, Elbow flexion contracture, Postnatal ...	OMIM:210600
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplastic iliac wing, Jaundice, Foot polydactyly, Bile duct proliferation, Polycystic liver dis...	OMIM:208500
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly, Dystonia, Generalized hypotonia	OMIM:618224
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Hypogonadotropic hypogonadism, Delayed puberty, Short stature, Osteoporosis, Growth d...	ORPHA:2326
Leber Optic Atrophy And Dystonia	Dystonia, Spasticity, Athetosis, Scoliosis	OMIM:500001
Fucosidosis	Anterior beaking of lumbar vertebrae, Anterior beaking of thoracic vertebrae, Failure to thrive, ...	OMIM:230000
Leukodystrophy, Hypomyelinating, 20	Hypertonia, Torticollis, Dystonia, Scoliosis, Spastic tetraplegia	OMIM:619071
16P11.2P12.2 Microduplication Syndrome	Dystonia	ORPHA:261204
Fibrochondrogenesis 2	Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Micrognathia, Short ribs, Hypoplastic pubic...	OMIM:614524
Mandibuloacral Dysplasia	Insulin resistance, Increased circulating free fatty acid level, Contractures of the large joints...	ORPHA:2457
Mucolipidosis Iv	Generalized hypotonia, Hypotonia, Hypergastrinemia, Dystonia, Spastic tetraplegia	OMIM:252650
Developmental Delay And Seizures With Or Without Movement Abnormalities	Generalized hypotonia, Tremor, Rigidity, Short stature, Dystonia	OMIM:617836
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Growth delay, Hypocalcemic tetany, Postnatal growth retardation, Intrauterine ...	ORPHA:93325
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Alternating Hemiplegia Of Childhood 1	Dystonia, Choreoathetosis	OMIM:104290
Ophthalmomandibulomelic Dysplasia	Mesomelia, Lateral humeral condyle aplasia, Radial bowing, Decreased mobility 3rd-5th fingers, Fi...	OMIM:164900
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Aplasia/Hypoplasia involving the pelvis, Broad long bones, Rhizo-meso-acromelic limb shortening, ...	ORPHA:163654
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Os odontoideum, Postnatal growth retardation, Hypotonia, Intrauterine growth retardat...	OMIM:616603
Christianson Syndrome	Joint hypermobility, Cachexia, Adducted thumb, Dystonia, Arthrogryposis multiplex congenita	ORPHA:85278
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Spasticity, Failure to thrive, Hypoglycemia, Generalized hypotonia, Hypotonia, Hyperammonemia, Hy...	OMIM:614739
Paroxysmal Exertion-Induced Dyskinesia	Torsion dystonia, Dystonia, Lower limb spasticity, Choreoathetosis	ORPHA:98811
Rett Syndrome	Spasticity, Cachexia, Short stature, Dystonia, Short foot, Scoliosis, Kyphosis	OMIM:312750
Deafness, Dystonia, And Cerebral Hypomyelination	Intrauterine growth retardation, Dystonia, Failure to thrive	OMIM:300475
Geleophysic Dysplasia 1	Platyspondyly, Osteopenia, Joint contracture of the hand, Cone-shaped epiphysis, Short metacarpal...	OMIM:231050
Rothmund-Thomson Syndrome	Abnormal trabecular bone morphology, Osteopenia, Aplasia/Hypoplasia of the radius, Short thumb, R...	ORPHA:2909
Lysinuric Protein Intolerance	Failure to thrive, Increased circulating ferritin concentration, Hypotonia, Splenomegaly, Hyperam...	OMIM:222700
Autosomal Recessive Cutis Laxa Type 2A	Congenital hip dislocation, Spasticity, Postnatal growth retardation, Hypotonia, Intrauterine gro...	ORPHA:357058
Dpagt1-Cdg	Elevated circulating hepatic transaminase concentration, Clinodactyly, Failure to thrive, Infanti...	ORPHA:86309
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Hypotonia, Limb hypertonia, Camptocormia, Dystonia, Choreoathetosis, Axial hypotonia	OMIM:606703
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Spasticity, Microretrognathia, Generalized hypotonia, Postnatal growth retardation, I...	OMIM:300966
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Spasticity, Short humerus, Tapered finger, Hypertonia, Exaggerated startle response, Short statur...	OMIM:618367
Congenital Disorder Of Glycosylation, Type Iiw	Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Increased hepa...	OMIM:619525
Cerebrotendinous Xanthomatosis	Spasticity, Cholelithiasis, Abnormal circulating cholesterol concentration, Ankle clonus, Osteopo...	OMIM:213700
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Portal hypertension, Splenomegaly, Biliary tract abnormality, Neonatal cholestati...	ORPHA:1414
Primary Biliary Cholangitis	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul...	ORPHA:186
Huntington Disease-Like 2	Dystonia, Weight loss, Action tremor, Rigidity	OMIM:606438
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	Oculogyric crisis, Generalized hypotonia, Limb hypertonia, Hypertonia, Dystonia, Axial hypotonia	OMIM:617384
Lipoyltransferase 1 Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Spastic tetrap...	OMIM:616299
Mitochondrial Complex I Deficiency, Nuclear Type 5	Failure to thrive, Generalized hypotonia, Hypotonia, Hepatomegaly, Dystonia, Growth delay, Axial ...	OMIM:618226
Leukodystrophy, Hypomyelinating, 16	Failure to thrive, Hypotonia, Intention tremor, Hypertonia, Dystonia, Choreoathetosis	OMIM:617964
Dyssegmental Dysplasia, Silverman-Handmaker Type	Severe short stature, Hypoplastic ilia, Anisospondyly, Limitation of joint mobility, Micromelia, ...	ORPHA:1865
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Generalized hypotonia, Hypotonia, Tremor, Hyperalaninemia, Dystonia, I...	OMIM:312170
Multiple Mitochondrial Dysfunctions Syndrome 6	Dystonia, Hypotonia, Spasticity, Failure to thrive	OMIM:617954
Arthrogryposis Multiplex Congenita 5	Hand clenching, Arthrogryposis multiplex congenita, Micrognathia, Talipes equinovarus, Short neck...	OMIM:618947
Ataxia With Vitamin E Deficiency	Pes cavus, Tremor, Hypertonia, Dystonia, Scoliosis, Diabetes mellitus	ORPHA:96
Neuropathy, Congenital Hypomyelinating, 3	Hand clenching, Spasticity, Arthrogryposis multiplex congenita, Abnormal foot morphology, Microgn...	OMIM:618186
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal circulating lipid...	ORPHA:77293
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Disproportionate short-limb short stature, Micromelia, Ab...	ORPHA:3144
Progressive Myoclonic Epilepsy With Dystonia	Dystonia, Generalized neonatal hypotonia	ORPHA:352596
X-Linked Intellectual Disability, Snyder Type	Kyphosis, Testicular atrophy, Kyphoscoliosis, Arachnodactyly, Long toe, Slender toe, Infantile mu...	ORPHA:3063
2,4-Dienoyl-Coa Reductase Deficiency	Spasticity, Failure to thrive, Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentrat...	OMIM:616034
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap...	OMIM:276820
Pyruvate Dehydrogenase E1-Alpha Deficiency	Hypotonia, Pes cavus, Intrauterine growth retardation, Talipes, Limb undergrowth, Dystonia, Incre...	ORPHA:79243
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteomalacia, Exocrine pancreatic insufficiency, Weight loss, Osteoporosis, Growth delay	ORPHA:309031
Combined Oxidative Phosphorylation Deficiency 13	Severe muscular hypotonia, Dystonia, Growth delay, Choreoathetosis, Axial hypotonia	OMIM:614932
Paroxysmal Kinesigenic Dyskinesia	Dystonia, Athetosis, Writer's cramp	ORPHA:98809
Mepan Syndrome	Spasticity, Hemidystonia, Failure to thrive, Hypotonia, Limb dystonia, Axial dystonia, Craniofaci...	ORPHA:508093
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Metacarpal periost...	OMIM:617994
Alternating Hemiplegia Of Childhood 2	Dystonia, Choreoathetosis	OMIM:614820
Fanconi-Bickel Syndrome	Hypouricemia, Intrahepatic cholestasis, Postprandial hyperglycemia, Rickets, Failure to thrive, G...	OMIM:227810
Jaberi-Elahi Syndrome	Hand clenching, Kyphosis, Failure to thrive, Hypotonia, Joint stiffness, Tremor, Appendicular spa...	OMIM:617988
Familial Infantile Bilateral Striatal Necrosis	Spasticity, Failure to thrive, Cogwheel rigidity, Rigidity, Dystonia, Hypertonia, Infantile muscu...	ORPHA:225154
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Osteopenia, Hepatitis, Pancreatic hypoplasia, Elevated circulating thyroid-stim...	OMIM:610199
Poland Syndrome	Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the thumb...	ORPHA:2911
Cushing Disease	Increased circulating cortisol level, Increased urinary cortisol level, Increased circulating ACT...	ORPHA:96253
Ataxia-Telangiectasia-Like Disorder	Generalized hypotonia, Absent Achilles reflex, Pes cavus, Joint hypermobility, Short stature, Dys...	ORPHA:251347
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Ankle flexion contracture, Cervical spinal canal stenosis, Knee flexion contracture, Hip contract...	OMIM:620232
Alg12-Cdg	Recurrent hypoglycemia, Overlapping fingers, Micrognathia, Talipes equinovarus, Abnormal bone oss...	ORPHA:79324
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia	OMIM:218550
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Hypotonia, Dystonia, Talipes cavus equinovarus, Tremor	ORPHA:139485
Dentatorubral-Pallidoluysian Atrophy	Dystonia, Choreoathetosis	OMIM:125370
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Talipes, Hypotonia, Dystonia, Choreoathetosis	OMIM:618497
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Pigment gallstones, Unconjugated hyperbilirubinemia, Abnormal...	ORPHA:232
Proximal 16P11.2 Microdeletion Syndrome	Abnormal vertebral morphology, Failure to thrive, Obesity, Micrognathia, Hand polydactyly, Cranio...	ORPHA:261197
Congenital Disorder Of Glycosylation, Type Ii	Generalized hypotonia, Joint hypermobility, Decreased body weight, Hypothyroidism, Hepatomegaly, ...	OMIM:607906
Leukodystrophy, Hypomyelinating, 6	Spasticity, Hypotonia, Tremor, Rigidity, Short stature, Dystonia, Choreoathetosis, Axial hypotonia	OMIM:612438
Aicardi-Goutieres Syndrome 4	Spasticity, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Intraute...	OMIM:610333
Basal Ganglia Calcification, Idiopathic, 1	Athetosis, Tremor, Rigidity, Dystonia, Abnormal circulating calcium concentration	OMIM:213600
Parathyroid Carcinoma	Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Pancreatic adenocarcinoma,...	ORPHA:143
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Abnormal vertebral morphology, Failure to thrive, Abnormality of the vertebral column, Hypotonia,...	OMIM:250620
Lethal Congenital Contracture Syndrome 10	Stiff neck, Overlapping fingers, Femoral bowing, Micrognathia, Intrauterine growth retardation, T...	OMIM:617022
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Premature pubarche, Dystonia, Foot joint contracture, Infantile muscular hypotonia	ORPHA:457205
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hypertonia, Oromandibular ...	OMIM:613135
Acrorenal-Mandibular Syndrome	Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula, Elbow fle...	OMIM:200980
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen...	ORPHA:89842
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
Beta-Thalassemia	Cholelithiasis, Hepatitis, Splenomegaly, Hypogonadotropic hypogonadism, Hepatomegaly, Abnormality...	ORPHA:848
Combined Oxidative Phosphorylation Deficiency 32	Spasticity, Hypotonia, Tremor, Kyphoscoliosis, Joint contracture, Dystonia, Choreoathetosis	OMIM:617664
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Finger syndactyly, Abnormal mesentery morphology, Aplasia of the proximal phalanges of the hand, ...	ORPHA:2256
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Spastic paraplegia, Neonatal hypotonia, Hyperalaninemia, Dystonia, Increased serum pyruvate, Spas...	OMIM:245349
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Dystonia, Spastic tetraplegia	OMIM:618646
Intellectual Disability, Buenos-Aires Type	Abnormal pelvic girdle bone morphology, Cuboid-shaped thoracolumbar vertebral bodies, Short statu...	ORPHA:3079
Episodic Kinesigenic Dyskinesia 2	Dystonia	OMIM:611031
Chromosome 18P Deletion Syndrome	Toe syndactyly, Radial deviation of finger, Hypotonia, Micrognathia, Short neck, Coxa vara, Short...	OMIM:146390
Plaa-Associated Neurodevelopmental Disorder	Postaxial foot polydactyly, Contractures of the large joints, Failure to thrive, Hypotonia, Micro...	ORPHA:521426
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Spasticity, Hypotonia, Overlapping toe, Pes cavus, Hip dysplasia, Facial hypotonia, Clinodactyly ...	OMIM:617807
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spasticity, Small hand, Infantile axial hypotonia, Postnatal growth retardation, Genu valgum, Mic...	ORPHA:300570
Hyperphenylalaninemia, Bh4-Deficient, B	Generalized hypotonia, Hypotonia, Tremor, Rigidity, Severe muscular hypotonia, Limb hypertonia, H...	OMIM:233910
Richards-Rundle Syndrome	Joint stiffness, Reduced bone mineral density, Hypergonadotropic hypogonadism, Hypertonia	ORPHA:1399
Neurodevelopmental Disorder With Dystonia And Seizures	Hypotonia, Intrauterine growth retardation, Dystonia, Athetosis, Spastic tetraplegia	OMIM:619922
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Pontocerebellar Hypoplasia, Type 2C	Dystonia	OMIM:612390
Developmental And Epileptic Encephalopathy 92	Dystonia, Spasticity	OMIM:617829
Mitochondrial Myopathy With Lactic Acidosis	Dystonia, Hypotonia, Spasticity, Increased serum pyruvate	OMIM:251950
Early-Onset Familial Hypoaldosteronism	Failure to thrive, Generalized hypotonia, Postnatal growth retardation, Hyponatremia, Decreased c...	ORPHA:556030
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Dystonia, Axial hypotonia	OMIM:618760
Marfan Syndrome	Osteopenia, Slender build, Hypotonia, Micrognathia, Spondylolisthesis, Limited elbow movement, Ar...	ORPHA:558
Birk-Landau-Perez Syndrome	Failure to thrive in infancy, Intrauterine growth retardation, Appendicular hypotonia, Increased ...	OMIM:617595
Kinsship Syndrome	Mesomelia, Osteopenia, Failure to thrive, Dislocated radial head, Sacral dimple, Hypotonia, Micro...	OMIM:619297
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul...	OMIM:241150
Infantile Dystonia-Parkinsonism	Oculogyric crisis, Limb hypertonia, Hypertonia, Abnormal circulating carboxylic acid concentratio...	ORPHA:238455
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Painless fractures due to injury, Recurrent hypoglycemia, Cholestasis, Acute hepatic failure, Hep...	OMIM:256810
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cholestasis, Slender build, Hepatic steatosis, Cirrhosis, Unconjugated hyperbilirubinemia, Bile d...	OMIM:613658
Developmental And Epileptic Encephalopathy 6B	Hypotonia, Dystonia, Scoliosis, Choreoathetosis, Axial hypotonia	OMIM:619317
Aceruloplasminemia	Blepharospasm, Decreased circulating iron concentration, Abnormal pancreas morphology, Decreased ...	ORPHA:48818
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Spasticity, Neonatal hypotonia, Short stature, Dystonia, Flexion contracture	OMIM:252011
Classic Glucose Transporter Type 1 Deficiency Syndrome	Dystonia, Spasticity, Choreoathetosis, Hypertonia	ORPHA:71277
Glutaric Acidemia I	Elevated circulating glutaric acid concentration, Failure to thrive, Hypoglycemia, Generalized hy...	OMIM:231670
Pantothenate Kinase-Associated Neurodegeneration	Osteopenia, Spasticity, Toe extensor amyotrophy, Fractures of the long bones, Leg dystonia, Limb ...	ORPHA:157850
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Short thumb, Failure to thrive, Carpal synostosis, Preaxial polydacty...	ORPHA:90652
3-Methylglutaconic Aciduria, Type I	Spasticity, Failure to thrive, Dystonia, Athetosis, Spastic tetraplegia	OMIM:250950
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Elevated circulating hepatic transaminase concentration, Decreased liver fun...	OMIM:613280
Cerebellar Ataxia, Cayman Type	Hypotonia, Dystonia, Pes planus, Intention tremor	OMIM:601238
Mohr-Tranebjaerg Syndrome	Dystonia, Spasticity, Increased susceptibility to fractures, Tremor	OMIM:304700
Coenzyme Q10 Deficiency, Primary, 5	Generalized hypotonia, Hypotonia, Intrauterine growth retardation, Hyperalaninemia, Hypertonia, D...	OMIM:614654
Dystonia 12	Tremor, Dystonia, Torticollis	OMIM:128235
Episodic Ataxia, Type 9	Dystonia	OMIM:618924
Primary Dystonia, Dyt4 Type	Blepharospasm, Upper limb postural tremor, Generalized dystonia, Laryngeal dystonia, Eunuchoid ha...	ORPHA:98805
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Spastic tetraparesis, Hypotonia, Hyperalaninemia, Dystonia, Increased serum pyruvate, Axial hypot...	OMIM:617668
3-Methylglutaconic Aciduria, Type Viib	Spasticity, Rhizomelia, Growth delay, Neonatal hypotonia, Hypotonia, Micrognathia, Intrauterine g...	OMIM:616271
Combined Oxidative Phosphorylation Deficiency 35	Dystonia, Spasticity, Failure to thrive, Generalized hypotonia	OMIM:617873
Leukodystrophy, Hypomyelinating, 25	Dystonia, Hypotonia, Growth delay	OMIM:620243
Parkinson Disease 6, Autosomal Recessive Early-Onset	Dystonia, Resting tremor, Rigidity	OMIM:605909
Dyskeratosis Congenita, Autosomal Recessive 1	Osteoporosis, Hepatic fibrosis, Palmoplantar hyperkeratosis	OMIM:224230
Parkinsonism-Dystonia 2, Infantile-Onset	Oculogyric crisis, Hypotonia, Tremor, Dystonia, Axial hypotonia	OMIM:618049
Otopalatodigital Syndrome, Type Ii	Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Postnatal growth retardation, Ove...	OMIM:304120
Rett Syndrome	Scoliosis, Failure to thrive, Abnormal muscle tone, Increased serum leptin, Hyperammonemia, Chole...	ORPHA:778
Developmental And Epileptic Encephalopathy 86	Dystonia, Small for gestational age, Generalized hypotonia	OMIM:618910
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Hypotonia, Splenomegaly, Hyperammonemia, Pancreatitis, Hepatomegaly, Dystonia,...	ORPHA:79312
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Generalized hypotonia, Head titubation, Dystonia, Progressive spasticity, Scoliosis	ORPHA:527497
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Toe syndactyly, Microretrognathia, Short finger, Delayed puberty, Infantile muscular hypotonia, O...	ORPHA:459070
Cushing Syndrome Due To Ectopic Acth Secretion	Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Incr...	ORPHA:99889
Spinocerebellar Ataxia Type 2	Kinetic tremor, Dystonia, Postural tremor, Generalized hypotonia	ORPHA:98756
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Developmental And Epileptic Encephalopathy 1	Spastic tetraparesis, Hypertonia, Dystonia, Growth delay, Choreoathetosis, Axial hypotonia	OMIM:308350
X-Linked Creatine Transporter Deficiency	Hypotonia, Joint hypermobility, Cachexia, Hypertonia, Abnormal circulating creatine concentration...	ORPHA:52503
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Dystonia, Athetosis, Axial hypotonia	OMIM:615159
Osteogenesis Imperfecta, Type Vii	Osteopenia, Rhizomelia, Micromelia, Crumpled long bones, Recurrent fractures, Decreased calvarial...	OMIM:610682
Pyknoachondrogenesis	Abnormal intramembranous ossification, Craniofacial hyperostosis, Unossified sacrum, Short iliac ...	ORPHA:3003
Glut1 Deficiency Syndrome 2	Splenomegaly, Tremor, Reduced haptoglobin level, Dystonia, Choreoathetosis	OMIM:612126
Leigh Syndrome, Nuclear	Spasticity, Failure to thrive, Hepatocellular necrosis, Generalized hypotonia, Hypotonia, Dystonia	OMIM:256000
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Ulnar deviation of the 2n...	OMIM:616263
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Dystonia, Axial hypotonia	OMIM:619150
Hengel-Maroofian-Schols Syndrome	Spasticity, Foot joint contracture, Hypotonia, Short stature, Dystonia	OMIM:619641
Leukodystrophy, Hypomyelinating, 15	Severe short stature, Spasticity, Failure to thrive, Dystonia, Athetosis, Intention tremor	OMIM:617951
Osteopathia Striata With Cranial Sclerosis	Joint contracture of the hand, Fibular aplasia, Micrognathia, Arachnodactyly, Talipes equinovarus...	OMIM:300373
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Dystonia, Postural tremor, Tremor, Rigidity	ORPHA:314632
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Fibular Dimelia-Diplopodia Syndrome	Absent tibia, Sacrococcygeal teratoma	ORPHA:1757
Autosomal Recessive Spastic Paraplegia Type 77	Progressive spastic paraplegia, Equinovarus deformity, Paroxysmal dystonia, Kyphoscoliosis, Sciss...	ORPHA:466722
Parkinson Disease 19A, Juvenile-Onset	Spasticity, Pill-rolling tremor, Rigidity, Limb hypertonia, Dystonia	OMIM:615528
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Spastic paraplegia, Spastic tetraparesis, Ankle clonus, Lower limb spasticity, Dystonia	OMIM:612319
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Elevated circulating hepatic transaminase concentration, Small for gestational age, Failure to th...	OMIM:615471
Hyperparathyroidism-Jaw Tumor Syndrome	Elevated circulating parathyroid hormone level, Pancreatic adenocarcinoma, Abnormal parathyroid m...	ORPHA:99880
Juvenile Huntington Disease	Oral motor hypotonia, Dystonia, Weight loss, Rigidity	ORPHA:248111
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Prominent fingertip pads, Generalized hypotonia, Micrognathia, Limb hypertonia, Dystonia, Scolios...	OMIM:616875
Leukoencephalopathy, Cystic, Without Megalencephaly	Dystonia, Spasticity, Athetosis	OMIM:612951
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia, Intrauterine growth retardation, Tremor, Limb hypertonia, Hypertonia, Dystonia, Ath...	OMIM:617710
4H Leukodystrophy	Decreased response to growth hormone stimulation test, Abnormality of thyroid physiology, Tremor,...	ORPHA:289494
Glycogen Storage Disease Due To Acid Maltase Deficiency	Failure to thrive, Elevated circulating creatine kinase concentration, Hepatomegaly, Elevated cir...	ORPHA:365
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Spasticity, Generalized hypotonia, Hypothyroidism, Pes planus, Dystonia	OMIM:613970
Pyruvate Dehydrogenase E2 Deficiency	Neonatal hypotonia, Generalized dystonia, Hypotonia, Paroxysmal dystonia, Dystonia, Choreoathetosis	OMIM:245348
Bilateral Generalized Polymicrogyria	Spasticity, Oculogyric crisis, Short stature, Dystonia, Growth delay, Spastic tetraplegia, Axial ...	ORPHA:208447
Spinocerebellar Ataxia 48	Dystonia, Cachexia, Tremor	OMIM:618093
Cousin Syndrome	Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Dislocation of the f...	OMIM:260660
Brain Dopamine-Serotonin Vesicular Transport Disease	Oculogyric crisis, Spastic tetraparesis, Generalized hypotonia, Abnormal foot morphology, Limb dy...	ORPHA:352649
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Dystonia, Hypotonia, Spasticity, Choreoathetosis	OMIM:618088
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Spasticity, Hypotonia, Lower limb spasticity, Dystonia, Intention tremor	OMIM:614458
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Pes cavus, Tremor, Elevated circulating creatine kinase concentration, Hyperchol...	OMIM:208920
Gm1 Gangliosidosis Type 1	Platyspondyly, Spasticity, Beaking of vertebral bodies T12-L3, Hepatosplenomegaly, Intrauterine g...	ORPHA:79255
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Failure to thrive, Preaxial polydactyly, Acetabular spurs, Femoral bowing, Short ribs, Postaxial ...	OMIM:615503
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Obesity, Brachydactyly, Short long bone	OMIM:615633
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hypotonia, Hyperammonemia, Pancreatitis, Hepatomegaly, Dystonia, Growth delay, Choreoathetosis	ORPHA:289916
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Dystonia, Hypotonia, Spasticity, Generalized hypotonia	OMIM:616277
Williams Syndrome	Synostosis of joints, Spasticity, Genu valgum, Type II diabetes mellitus, Micrognathia, Radioulna...	ORPHA:904
17Q11 Microdeletion Syndrome	Precocious puberty, Osteopenia, Elevated circulating parathyroid hormone level, Kyphosis, Abnorma...	ORPHA:97685
Woodhouse-Sakati Syndrome	Osteopenia, Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to...	ORPHA:3464
Systemic Mastocytosis With Associated Hematologic Neoplasm	Increased susceptibility to fractures, Splenomegaly, Weight loss, Hepatomegaly, Osteoporosis	ORPHA:98849
Primary Dystonia, Dyt2 Type	Blepharospasm, Generalized dystonia, Limb dystonia, Tremor, Torticollis, Torsion dystonia	ORPHA:99657
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Dystonia, Abnormality of the distal phalanx of the thumb, Intention tremor, Infantile muscular hy...	ORPHA:453521
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Precocious puberty, Decreased circulating iron concentration, Osteopenia, Increased circulating p...	ORPHA:438213
Oxoglutarate Dehydrogenase Deficiency	Dystonia, Hypotonia, Rigidity	OMIM:203740
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Postural tremor, Tremor, Hypogonadotropic hypogonadism, Delayed puberty, Short statur...	OMIM:607694
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Spasticity, Limb hypertonia, Infantile muscular hypotonia, Dystonia, Kyphosis	ORPHA:500180
Charcot-Marie-Tooth Disease, Type 4K	Dystonia, Kyphoscoliosis	OMIM:616684
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Spastic paraparesis, Tremor, Rigidity	ORPHA:329284
Oromandibular Dystonia	Blepharospasm, Generalized dystonia, Laryngeal dystonia, Limb dystonia, Weight loss, Lingual dyst...	ORPHA:93958
Leukodystrophy, Hypomyelinating, 2	Spastic paraparesis, Intention tremor, Rigidity, Head titubation, Dystonia, Progressive spasticit...	OMIM:608804
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Spasticity, Failure to thrive, Hypotonia, Elevated circulating creatine kinase concentration, Sho...	OMIM:612073
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated circulating hepatic transaminase concentration, Scoliosis, Generalized hypotonia, Hypoto...	OMIM:615356
Acromelic Frontonasal Dysostosis	Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Hypopituitarism, Preaxial foot polyd...	OMIM:603671
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Dystonia, Spasticity, Decreased body weight, Rigidity	OMIM:617672
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Abnormal vertebral morphology, Failure to thrive, Hypotonia, Head titubation, Dystonia	ORPHA:88639
Lesch-Nyhan Syndrome	Spasticity, Hip dislocation, Hypotonia, Podagra, Hyperuricemia, Opisthotonus, Testicular atrophy,...	OMIM:300322
Infantile Convulsions And Choreoathetosis	Dystonia, Athetosis, Choreoathetosis	ORPHA:31709
Dystonia 7, Torsion	Blepharospasm, Hand tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibular dystonia	OMIM:602124
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Osteopenia, Growth delay, Ectopic anterior pituitary gland, Hypoglyc...	ORPHA:90695
Coach Syndrome 1	Hepatic fibrosis, Spasticity, Elevated circulating hepatic transaminase concentration, Generalize...	OMIM:216360
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Spasticity, Generalized dystonia, Spastic tetraparesis, Opisthotonus, Dystonia, Choreoathetosis, ...	OMIM:619653
Pseudo-Torch Syndrome 1	Spasticity, Elevated circulating hepatic transaminase concentration, Microretrognathia, Failure t...	OMIM:251290
Cerebral Creatine Deficiency Syndrome 1	Spasticity, Neonatal hypotonia, Failure to thrive, Hypotonia, Pes cavus, Joint hypermobility, Ele...	OMIM:300352
Spinocerebellar Ataxia With Epilepsy	Acute hepatic failure, Dystonia, Hyperalaninemia, Tremor	ORPHA:254881
Phocomelia, Schinzel Type	Finger aplasia, Disproportionate short stature, Radial bowing, Ectrodactyly, Aplasia/Hypoplasia i...	ORPHA:2879
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Neonatal hypotonia, Brachydactyly, Short stature, Craniosynostosis, Dystonia, ...	ORPHA:457193
Cadds	Elevated circulating hepatic transaminase concentration, Cholestasis, Intrauterine growth retarda...	ORPHA:369942
Lowe Oculocerebrorenal Syndrome	Joint contracture of the hand, Finger swelling, Neonatal hypotonia, Osteomalacia, Postnatal growt...	OMIM:309000
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Dystonia, Tremor, Rigidity	ORPHA:240085
Nabais Sa-De Vries Syndrome, Type 2	Neonatal hypotonia, Failure to thrive in infancy, Micrognathia, Hypothyroidism, Clinodactyly of t...	OMIM:618829
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Hepatosplenome...	OMIM:274000
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, Hypoplastic scapulae, Hepatic fibrosis, Micromelia, Polydactyly, ...	OMIM:614091
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Type I diabetes mellitus, Hepatitis, Hepatosplenomegaly, Primary hypothyroidism, Dela...	ORPHA:391487
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Intention tremor, Tremor, Hypogonadotropic hypogonadism, Short stature, Dystonia, Gro...	OMIM:614381
Neurodevelopmental Disorder With Involuntary Movements	Dystonia, Spasticity, Athetosis, Generalized hypotonia	OMIM:617493
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Laryngeal dystonia, Decreased circulating ferritin concentration, Trem...	OMIM:606159
46,Xy Partial Gonadal Dysgenesis	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Absence of secondary s...	ORPHA:251510
Methionine Adenosyltransferase I/Iii Deficiency	Hypermethioninemia, Dystonia	OMIM:250850
Isolated Atp Synthase Deficiency	Spastic paraplegia, Hypogonadism, Hypotonia, Hyperammonemia, Hypothyroidism, Hyperalaninemia, Hep...	ORPHA:254913
Atypical Juvenile Parkinsonism	Leg muscle stiffness, Resting tremor, Pes cavus, Rigidity, Dystonia, Scoliosis	ORPHA:391411
Guanidinoacetate Methyltransferase Deficiency	Hypotonia, Dystonia, Athetosis	ORPHA:382
Familial Dyskinesia And Facial Myokymia	Dystonia, Limb hypertonia, Resting tremor, Axial hypotonia	ORPHA:324588
Tremor-Ataxia-Central Hypomyelination Syndrome	Spasticity, Postural tremor, Hypogonadotropic hypogonadism, Delayed puberty, Short stature, Dysto...	ORPHA:447896
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Blepharospasm, Spasticity, Failure to thrive, Hypotonia, Rigidity, Craniofacial dystonia, Limb jo...	OMIM:617282
Cystic Fibrosis	Osteopenia, Elevated circulating hepatic transaminase concentration, Decreased body mass index, F...	ORPHA:586
Developmental And Epileptic Encephalopathy 17	Dystonia, Athetosis	OMIM:615473
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Congenital hip dislocation, Spasticity, Scoliosis, Growth delay, Fractures of the long bones, Mic...	ORPHA:496641
Leukoencephalopathy, Progressive, With Ovarian Failure	Dystonia, Spasticity, Hand tremor	OMIM:615889
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Hypotonia, Dystonia	OMIM:619157
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Spasticity, Clinodactyly, Limb hypertonia, Dystonia, Axial hypotonia, Syndactyly	OMIM:618087
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Talipes valgus, Failure to thrive in infancy, Hypotonia, Pes cavus, Type II diabetes mellitus, In...	OMIM:618891
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormal hip bone morphology, Arachnodactyly, Hypertonia, Short stature, Reduced bone mineral den...	ORPHA:2720
Intellectual Developmental Disorder, Autosomal Dominant 43	Failure to thrive, Hypotonia, Pes planus, Hip dysplasia, Dystonia, Tapered finger	OMIM:616977
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Osteopenia, Anterior pituitary agenesis, Ectopic anterior pituitary ...	ORPHA:95494
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Abnormal circulating selenium concentration, Foot joint contracture, Mitten deformity...	ORPHA:79408
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Elevated circulating hepatic transaminase concentration, Sandal gap, Generalized hypo...	OMIM:619127
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Dystonia, Hypotonia, Spasticity	OMIM:620094
Williams-Beuren Syndrome	Radioulnar synostosis, Osteopenia, Failure to thrive in infancy, Obesity, Early onset of sexual m...	OMIM:194050
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Broad thumb, Prominent fingertip pads, Prominent crus of helix, Hypotonia, Joint hypermobility, P...	OMIM:617804
Pontocerebellar Hypoplasia, Type 9	Spasticity, Hypertonia, Facial hypotonia, Dystonia, Axial hypotonia	OMIM:615809
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Spasticity, Limb hypertonia, Dystonia, Choreoathetosis, Axial hypotonia	OMIM:615905
Aneurysm-Osteoarthritis Syndrome	Camptodactyly of finger, Intervertebral disk degeneration, Spondylolisthesis, Joint hypermobility...	ORPHA:284984
Leukodystrophy, Progressive, Early Childhood-Onset	Appendicular spasticity, Joint contracture, Short stature, Dystonia, Axial hypotonia	OMIM:617762
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Torticollis, Oromandibular...	ORPHA:420485
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Congenital bilateral hip dislocation, Dystonia, Syndactyly, Spastic tetraparesis	ORPHA:404451
Proximal Myopathy With Extrapyramidal Signs	Mildly elevated creatine kinase, Dystonia, Resting tremor, Progressive extrapyramidal muscular ri...	ORPHA:401768
Continuous Spikes And Waves During Sleep	Dystonia	ORPHA:725
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Decreased circulating carnitine concentration, Neonatal hypotonia, Abnormal circulating carnitine...	ORPHA:431361
Mesomelia-Synostoses Syndrome	Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Abnormal vertebr...	OMIM:600383
Developmental And Epileptic Encephalopathy 67	Dystonia, Athetosis	OMIM:618141
Dyskeratosis Congenita, Autosomal Dominant 1	Osteoporosis, Cirrhosis, Hepatic necrosis	OMIM:127550
Dyssegmental Dysplasia, Silverman-Handmaker Type	Severe short stature, Anisospondyly, Disproportionate short-limb short stature, Micromelia, Micro...	OMIM:224410
Gm2 Gangliosidosis, Ab Variant	Infantile axial hypotonia, Postnatal growth retardation, Progressive spastic quadriplegia, Exagge...	ORPHA:309246
Cutis Marmorata Telangiectatica Congenita	Toe syndactyly, Scoliosis, Finger syndactyly, Intrauterine growth retardation, Micrognathia, Abno...	ORPHA:1556
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Spastic paraplegia, Dystonia, Choreoathetosis	ORPHA:53583
Spinocerebellar Ataxia Type 11	Dystonia	ORPHA:98767
Dilated Cardiomyopathy With Ataxia	Elevated circulating hepatic transaminase concentration, Elevated circulating glutaric acid conce...	ORPHA:66634
Spinocerebellar Ataxia 28	Dystonia, Spasticity, Lower limb hypertonia	OMIM:610246
Friedreich Ataxia	Spasticity, Abnormal foot morphology, Pes cavus, Intention tremor, Areflexia of lower limbs, Dyst...	ORPHA:95
Infantile Neuronal Ceroid Lipofuscinosis	Dystonia, Spasticity, Tremor	ORPHA:79263
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Dystonia, Talipes equinovarus, Spasticity	OMIM:618917
Caribbean Parkinsonism	Dystonia, Action tremor, Rigidity	ORPHA:97355
Tibial Hemimelia	Absent tibia	OMIM:275220
Orofaciodigital Syndrome Type 1	Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Short toe, Preaxial hand polydacty...	ORPHA:2750
Hsd10 Disease, Infantile Type	Hypoglycemia, Spastic tetraparesis, Hypotonia, Hyperammonemia, Dystonia, Choreoathetosis, Spastic...	ORPHA:391428
Huntington Disease	Decreased body mass index, Abnormal circulating cholesterol concentration, Rigidity, Weight loss,...	ORPHA:399
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Micrognathia, Spondylolisthesis, Absent distal phalanges, Joint hy...	OMIM:610168
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia	Spastic paraplegia, Pes cavus, Joint hypermobility, Distal lower limb muscle weakness, Spastic ga...	OMIM:620538
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ...	OMIM:113310
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Tremor, Ankle clonus, Oromandibular dystonia, Focal dystonia, Dystonia	ORPHA:52368
Dystonia 34, Myoclonic	Hand tremor, Head tremor, Torticollis, Writer's cramp, Dystonia	OMIM:619724
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Spastic paraparesis, Elevated circulating hepatic ...	ORPHA:309854
Alg9-Cdg	Periportal fibrosis, Rhizomelia, Microretrognathia, Flared metaphysis, Hypotonia, Micrognathia, T...	ORPHA:79328
Galloway-Mowat Syndrome 1	Hypoalbuminemia, Slender finger, Spasticity, Joint contracture of the hand, Small for gestational...	OMIM:251300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Pes cavus, Intention tremor, Elevated circulating creatine kinase concentration, Rigidity, Dyston...	OMIM:258450
Autosomal Recessive Malignant Osteopetrosis	Abnormal epiphysis morphology, Growth delay, Reduced bone mineral density, Hypocalcemia, Tremor, ...	ORPHA:667
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Arm dystonia, Episodic generalized hypotonia, Hypotonia, Pes cavus, Dystonia	OMIM:601338
Combined Oxidative Phosphorylation Deficiency 27	Failure to thrive, Hypotonia, Hyperammonemia, Microvesicular hepatic steatosis, Opisthotonus, Sev...	OMIM:616672
Hydrolethalus Syndrome 1	Accessory spleen, Upper limb undergrowth, Preaxial hand polydactyly, Intrauterine growth retardat...	OMIM:236680
Adult-Onset Cervical Dystonia, Dyt23 Type	Head tremor, Axial dystonia, Craniofacial dystonia, Limb tremor, Torticollis, Writer's cramp, Foc...	ORPHA:420492
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Spasticity, Hypertonia, Dystonia, Choreoathetosis, Axial hypotonia	OMIM:618451
Spinocerebellar Ataxia 17	Dystonia, Intention tremor, Rigidity	OMIM:607136
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Spasticity, Hip subluxation, Dystonia, Scoliosis, Axial hypotonia	ORPHA:500144
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Failure to thrive, Mitten deformity, Osteoporosis, Abnormal blood ...	ORPHA:79404
Combined Oxidative Phosphorylation Deficiency 12	Neonatal hypotonia, Failure to thrive, Spastic tetraparesis, Cholestasis, Elevated circulating as...	OMIM:614924
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Growth delay, Failure to thrive, Hypoglycemia, Generalized hypotonia...	ORPHA:3008
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial foot polydactyly, Disproportionate short-limb short stature, Ne...	OMIM:225500
Triosephosphate Isomerase Deficiency	Spasticity, Cholelithiasis, Failure to thrive, Generalized hypotonia, Hypotonia, Cholecystitis, T...	OMIM:615512
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Reduced bone mineral density, Abnormal metaphysis morphology, Long fibula, Abnormality of the pan...	ORPHA:935
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Hypopituitarism, Preaxial foot polydactyly,...	ORPHA:1827
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:300971
Developmental And Epileptic Encephalopathy 64	Hypotonia, Micrognathia, Paroxysmal dystonia, Limb hypertonia, Dystonia	OMIM:618004
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Tremor, Dystonia, Scoliosis	OMIM:615157
Dystonia 26, Myoclonic	Blepharospasm, Dystonia, Torticollis, Laryngeal dystonia	OMIM:616398
Folinic Acid-Responsive Seizures	Dystonia, Spastic tetraparesis, Hypertonia	ORPHA:79097
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Hypotonia, Dystonia, Broad hallux, Methylmalonic acidemia	OMIM:614105
Stickler Syndrome	Slender build, Genu valgum, Micrognathia, Arachnodactyly, Cachexia, Hip dislocation, Protrusio ac...	ORPHA:828
Parkinsonism-Dystonia 3, Childhood-Onset	Action tremor, Tremor, Hypertonia, Dystonia, Growth delay	OMIM:619738
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Leg muscle stiffness, Tremor, Rigidity, Hypertonia, Torticollis, ...	OMIM:606693
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Oculogyric crisis, Hypotonia, Rigidity, Opisthotonus, Hypertonia, Dystonia, Choreoathetosis	ORPHA:13
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Severe short stature, Absent crus of helix, Finger syndactyly, F...	ORPHA:2753
Pelizaeus-Merzbacher Disease, Classic Form	Spasticity, Spastic tetraparesis, Head tremor, Hypotonia, Dystonia, Athetosis, Titubation, Axial ...	ORPHA:280219
Neuroferritinopathy	Blepharospasm, Arm dystonia, Resting tremor, Leg dystonia, Decreased circulating ferritin concent...	ORPHA:157846
Developmental And Epileptic Encephalopathy 89	Spasticity, Microretrognathia, Talipes equinovarus, Limb undergrowth, Hypertonia, Dystonia, Scoli...	OMIM:619124
Spinocerebellar Ataxia Type 17	Blepharospasm, Spasticity, Rigidity, Torticollis, Writer's cramp, Dystonia	ORPHA:98759
Orofaciodigital Syndrome X	Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly	OMIM:165590
Myhre Syndrome	Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Overlapping toe, Enlarged ver...	OMIM:139210
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Dystonia, Athetosis	OMIM:300857
Spinocerebellar Ataxia, Autosomal Recessive 17	Hypotonia, Dystonia, Appendicular hypotonia, Intention tremor	OMIM:616127
Pmm2-Cdg	Increased circulating prolactin concentration, Hyperinsulinemia, Pes planus, Elevated circulating...	ORPHA:79318
Huntington Disease-Like 3	Dystonia, Spasticity, Flexion contracture, Extrapyramidal muscular rigidity	ORPHA:157946
Combined Oxidative Phosphorylation Deficiency 57	Hypotonia, Central diabetes insipidus, Nephrogenic diabetes insipidus, Dystonia, Diabetes insipid...	OMIM:620167
Basal Ganglia Disease, Biotin-Thiamine Responsive	Truncal titubation, Cogwheel rigidity, Action tremor, Rigidity, Opisthotonus, Craniofacial dyston...	OMIM:607483
Gabriele-De Vries Syndrome	Sandal gap, Hypotonia, Micrognathia, Intrauterine growth retardation, Tremor, Distal arthrogrypos...	OMIM:617557
Mitochondrial Complex I Deficiency, Nuclear Type 26	Dystonia, Limb hypertonia, Choreoathetosis	OMIM:618247
Loeys-Dietz Syndrome 3	Osteopenia, Hip osteoarthritis, Intervertebral disk degeneration, Spondylolisthesis, Joint hyperm...	OMIM:613795
Boomerang Dysplasia	Absent radius, Fibular aplasia, Severe short stature, Hypoplastic iliac body	OMIM:112310
Leukoencephalopathy With Calcifications And Cysts	Dystonia, Spasticity, Tremor	ORPHA:542310
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Dystonia, Hypergonadotropic hypogonadism, Tremor	OMIM:617145
Tay-Sachs Disease	Precocious puberty, Increased serum beta-hexosaminidase, Decerebrate rigidity, Laryngeal dystonia...	ORPHA:845
Hepatoerythropoietic Porphyria	Osteopenia, Abnormal circulating porphyrin concentration, Splenomegaly, Osteoporosis, Osteolysis	ORPHA:95159
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Periportal fibrosis, Short toe, Short finger, Intrauterine growth retardati...	OMIM:269860
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Dystonia, Spasticity, Spastic paraparesis, Spastic dysarthria	ORPHA:313772
Brain-Lung-Thyroid Syndrome	Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Failure to thrive, ...	ORPHA:209905
Rett Syndrome, Congenital Variant	Spasticity, Neonatal hypotonia, Generalized hypotonia, Talipes equinovarus, Pes planus, Dystonia,...	OMIM:613454
Aicardi-Goutieres Syndrome 1	Spasticity, Elevated circulating hepatic transaminase concentration, Splenomegaly, Prolonged neon...	OMIM:225750
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Elevated circulating thyroid-stimulating hormone concentration, Generalized hypotonia, Decreased ...	OMIM:610978
Liang-Wang Syndrome	Dystonia, Axial hypotonia	OMIM:618729
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Dystonia, Short foot, Small hand	OMIM:617903
Holoprosencephaly	Spasticity, Scoliosis, Abnormal form of the vertebral bodies, Hypoglycemia, Failure to thrive in ...	ORPHA:2162
Huntington Disease-Like 3	Dystonia, Spasticity, Flexion contracture	OMIM:604802
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Failure to thrive, Generalized dystonia, Spastic tetraparesis, Hyperglycinemia, Hyperammonemia, H...	OMIM:620358
Posttransplant Acute Limbic Encephalitis	Hyponatremia, Dystonia	ORPHA:163921
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Lumbar hyperlordosis, Equinus calcaneus, Joint hypermobility, 2-3 toe syndactyly, Pes valgus, Pro...	ORPHA:522077
Intellectual Developmental Disorder, Autosomal Dominant 56	Dystonia, Hypotonia, Spasticity, Lower limb spasticity	OMIM:617854
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Dystonia	OMIM:618317
Spastic Ataxia 3, Autosomal Recessive	Dystonia, Spasticity, Scoliosis	OMIM:611390
Congenital Erythropoietic Porphyria	Osteopenia, Abnormal circulating porphyrin concentration, Splenomegaly, Reduced haptoglobin level...	ORPHA:79277
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	OMIM:616878
Infantile Neuroaxonal Dystrophy	Spasticity, Spastic tetraparesis, Dystonia, Progressive spasticity, Flexion contracture, Axial hy...	ORPHA:35069
Spastic Ataxia 5, Autosomal Recessive	Dystonia, Spasticity, Spastic paraparesis	OMIM:614487
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Infantile axial hypotonia, Lower limb spasticity, Dystonia, Intention tremor, Lower limb hypertonia	ORPHA:438114
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Spasticity, Short neck, Pes planus, Spastic tetraplegia, Precocious puberty, Prominent fingertip ...	OMIM:619950
Leukodystrophy, Hypomyelinating, 9	Dystonia, Lower limb spasticity, Intention tremor, Axial hypotonia	OMIM:616140
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Dystonia, Rigidity	OMIM:600795
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypernatremia, Decreased liver function, Hypoglycemia, Hyperglycemia, Hypotonia, Hyperglycinemia,...	OMIM:620423
Alkaptonuria	Calcification of cartilage, Joint stiffness, Black pigment gallstones, Increased susceptibility t...	ORPHA:56
Parkinson Disease 2, Autosomal Recessive Juvenile	Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Tremor, Rigidity, Focal ...	OMIM:600116
Dystonia 9	Spastic paraplegia, Dystonia, Choreoathetosis	OMIM:601042
Charge Syndrome	Postnatal growth retardation, Micrognathia, Absent radius, Hypoparathyroidism, Bilateral talipes ...	OMIM:214800
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Dystonia, Hypotonia, Spasticity	OMIM:619286
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Dystonia, Scoliosis, Axial hypotonia, Appendicular spasticity	OMIM:617669
Aicardi-Goutieres Syndrome 7	Hepatitis, Spastic tetraparesis, Generalized hypotonia, Increased circulating ferritin concentrat...	OMIM:615846
Japanese Encephalitis	Genu recurvatum, Pill-rolling tremor, Stiff neck, Elbow flexion contracture, Cogwheel rigidity, T...	ORPHA:79139
Leigh Syndrome	Spasticity, Hepatic failure, Failure to thrive, Hypoglycemia, Intrauterine growth retardation, Mu...	ORPHA:506
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Spasticity, Genu valgum, Hyperbilirubinemia, Hepatic steatosis, Decreased body weight, Progressiv...	OMIM:619475
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Oculogyric crisis, Maturity-onset diabetes of the young, Hypomagnesemia, Abnormal circulating bio...	ORPHA:1578
Aicardi-Goutières Syndrome	Spasticity, Spastic paraparesis, Elevated circulating hepatic transaminase concentration, Extrapy...	ORPHA:51
Ataxia-Telangiectasia	Failure to thrive, Glucose intolerance, Intention tremor, Tremor, Hypoplasia of the thymus, Delay...	OMIM:208900
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis, Overlapping fingers, Micrognathia, Knee flexion contracture, Head titubation, Bilateral...	OMIM:619708
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hypotonia, Tremor, Rigidity, Head titubation, Hypertonia, Dystonia, Choreoathetosis	OMIM:618877
Mitochondrial Membrane Protein-Associated Neurodegeneration	Spasticity, Spastic paraparesis, Hand tremor, Rigidity, Dystonia	ORPHA:289560
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Head tremor, Postural tremor, Elevated circulating creatine kinase concentration...	ORPHA:64753
Corticobasal Syndrome	Tremor, Dystonia, Limb dystonia, Progressive extrapyramidal muscular rigidity	ORPHA:454887
Ulbright-Hodes Syndrome	Abnormal forearm bone morphology, Postnatal growth retardation, Fibular aplasia, Micrognathia, Hu...	ORPHA:3404
Multiple Endocrine Neoplasia Type 1	Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma...	ORPHA:652
Familial Paroxysmal Ataxia	Dystonia, Torticollis	ORPHA:97
Intellectual Developmental Disorder, Autosomal Dominant 42	Hand clenching, Failure to thrive, Infantile axial hypotonia, Hypotonia, Congenital hypothyroidis...	OMIM:616973
Mogs-Cdg	Hepatosplenomegaly, Overlapping fingers, Thoracic scoliosis, Hypothyroidism, Inappropriate antidi...	ORPHA:79330
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Dystonia, Resting tremor, Postural tremor, Rigidity	OMIM:619911
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Obesity, Hypercholesterolemia, Dystonia, Elevated circulating alpha-fetoprotein ...	OMIM:616267
Pontocerebellar Hypoplasia, Type 2B	Spasticity, Hypotonia, Opisthotonus, Limb hypertonia, Dystonia, Axial hypotonia	OMIM:612389
Perry Syndrome	Dystonia, Weight loss, Tremor, Rigidity	OMIM:168605
Ataxia-Telangiectasia-Like Disorder 1	Absent Achilles reflex, Hypotonia, Lower limb spasticity, Dystonia, Choreoathetosis	OMIM:604391
Dyskeratosis Congenita, X-Linked	Short stature, Osteoporosis, Intrauterine growth retardation, Cirrhosis	OMIM:305000
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Small pituitary gland, Disproportionate short-limb short stature, Hypotonia, Trident pelvis, Shor...	OMIM:619479
Developmental And Epileptic Encephalopathy 51	Hypotonia, Dystonia, Failure to thrive	OMIM:617339
Spinocerebellar Ataxia Type 3	Dystonia	ORPHA:98757
Autosomal Recessive Spastic Paraplegia Type 78	Progressive spastic quadriplegia, Dystonia, Pes cavus, Progressive spastic paraplegia	ORPHA:513436
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d...	OMIM:612953
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	ORPHA:480864
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Spasticity, Hepatic sinusoidal dilatation, Small for gestational age, Tracheomalacia, Microretrog...	OMIM:620371
Developmental And Epileptic Encephalopathy 84	Spasticity, Generalized hypotonia, Opisthotonus, Dystonia, Axial hypotonia	OMIM:618792
Mcleod Syndrome	Elevated circulating aspartate aminotransferase concentration, Absent Achilles reflex, Splenomega...	OMIM:300842
Spinocerebellar Ataxia Type 1	Dystonia, Postural tremor, Generalized hypotonia	ORPHA:98755
Gm2-Gangliosidosis, Ab Variant	Spastic tetraparesis, Generalized hypotonia, Hypotonia, Hypertonia, Exaggerated startle response,...	OMIM:272750
Cimdag Syndrome	Spasticity, Cholelithiasis, Hypogonadism, Hypotonia, Microvesicular hepatic steatosis, Hepatomega...	OMIM:619273
Gabriele-De Vries Syndrome	Sandal gap, Decreased response to growth hormone stimulation test, Hypotonia, Micrognathia, Intra...	ORPHA:506358
Amyotrophic Dystonic Paraplegia	Spastic paraplegia, Dystonia	OMIM:105300
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Spastic paraparesis, Tremor, Rigidity	OMIM:300894
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculogyric crisis, Abnormal circulating biopterin concentration, Transient hyperpheny...	OMIM:612716
Glutaryl-Coa Dehydrogenase Deficiency	Limb dystonia, Tremor, Rigidity, Severe muscular hypotonia, Fasting hypoglycemia, Dystonia, Athet...	ORPHA:25
Arboleda-Tham Syndrome	Neonatal hypotonia, Enlarged proximal interphalangeal joints, Genu valgum, Short hallux, Pes plan...	OMIM:616268
Pontocerebellar Hypoplasia, Type 2A	Opisthotonus, Dystonia, Congenital contracture	OMIM:277470
Neurodegeneration With Brain Iron Accumulation 4	Spasticity, Generalized dystonia, Pes cavus, Tremor, Elevated circulating creatine kinase concent...	OMIM:614298
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Dystonia, Cogwheel rigidity, Resting tremor, Intention tremor	OMIM:619725
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	Dystonia, Spasticity, Decreased LDL cholesterol concentration	OMIM:607236
Legius Syndrome	Hypotonia, Polydactyly, Short stature, Clinodactyly of the 5th finger, Dystonia, Scoliosis	ORPHA:137605
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Head tremor, Pes cavus, Tremor, Elevated circulating creatine kinase concentration, Dystonia, Sco...	OMIM:606002
Choreoacanthocytosis	Dystonia, Pes cavus, Progressive choreoathetosis, Elevated circulating creatine kinase concentration	OMIM:200150
Machado-Joseph Disease	Dystonia, Absent Achilles reflex, Spasticity, Rigidity	OMIM:109150
Proximal Renal Tubular Acidosis	Growth delay, Failure to thrive, Glycosuria, Mild postnatal growth retardation, Hypokalemia, Shor...	ORPHA:47159
Manganese Poisoning	Postural tremor, Dystonia, Cogwheel rigidity, Hypertonia	ORPHA:306682
Niemann-Pick Disease, Type C1	Spasticity, Generalized hypotonia, Hypotonia, Splenomegaly, Fatal liver failure in infancy, Prolo...	OMIM:257220
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Progressive extrapyramidal muscular rigidity, Axial dystonia, Tremor, Dystonia	ORPHA:240071
Robinow Syndrome, Autosomal Dominant 1	Mesomelia, Bifid distal phalanx of toe, Small hand, Broad thumb, Rhizomelia, Clinodactyly, Radial...	OMIM:180700
Combined Oxidative Phosphorylation Deficiency 3	Neonatal hypotonia, Generalized hypotonia, Hypotonia, Intrauterine growth retardation, Hyperammon...	OMIM:610505
Spinocerebellar Ataxia 21	Dystonia, Cogwheel rigidity, Intention tremor, Postural tremor	OMIM:607454
Metachromatic Leukodystrophy	Generalized hypotonia, Hypotonia, Cholecystitis, Gallbladder dysfunction, Dystonia, Spastic tetra...	OMIM:250100
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Prolonged neonatal jaundice, Dystonia	OMIM:618868
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc...	OMIM:241080
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Generalized hypotonia, Hypotonia, Hypomethioninemia, Hyperhomocystinemia, Dystonia, Methylmalonic...	OMIM:277410
Early Infantile Epileptic Encephalopathy	Precocious puberty, Spasticity, Failure to thrive, Short finger, Broad phalanx of the toes, Tremo...	ORPHA:1934
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Small hand, Tracheomalacia, Hypoplasia of proximal radius, Decreas...	ORPHA:444077
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Progressive extrapyramidal muscular rigidity, Infantile axial hypotonia, Infantil...	ORPHA:225147
Idiopathic Camptocormia	Elevated circulating creatine kinase concentration, Osteoarthritis, Dystonia, Abnormal interverte...	ORPHA:1320
3-Methylglutaconic Aciduria, Type Viii	Failure to thrive, Generalized hypotonia, Hypotonia, Tremor, Hypertonia, Jaundice, Dystonia, Neon...	OMIM:617248
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Spastic tetraplegia, Failure to thrive, Hypotonia, Hypertonia, Short stature, Dystonia, Small for...	OMIM:620024
Metachromatic Leukodystrophy, Juvenile Form	Spasticity, Decerebrate rigidity, Generalized hypotonia, Cholecystitis, Dystonia, Intention tremor	ORPHA:309263
Metachromatic Leukodystrophy, Adult Form	Spasticity, Decerebrate rigidity, Generalized hypotonia, Cholecystitis, Progressive spastic quadr...	ORPHA:309271
Spinocerebellar Ataxia Type 6	Blepharospasm, Dystonia, Intention tremor	ORPHA:98758
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Dystonia, Gout, Hyperuricemia	ORPHA:79233
Adult-Onset Dystonia-Parkinsonism	Spasticity, Abnormal circulating creatine kinase concentration, Tremor, Rigidity, Stiff hip, Foca...	ORPHA:199351
Episodic Ataxia, Type 2	Dystonia	OMIM:108500
Mercury Poisoning	Hypokalemia, Dystonia, Tremor	ORPHA:330021
Beta-Ureidopropionase Deficiency	Neonatal hypotonia, Hypotonia, Dystonia, Elevated circulating N-carbamoyl-beta-alanine concentrat...	OMIM:613161
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Cone-shaped epiphysis, Splenomegaly, Aplasia of the epiglottis, Postaxial polydactyly, Short clav...	OMIM:617088
Parkinsonian-Pyramidal Syndrome	Spasticity, Rigidity, Talipes equinovarus, Dystonia, Intention tremor	ORPHA:171695
Metachromatic Leukodystrophy, Late Infantile Form	Spasticity, Decerebrate rigidity, Generalized hypotonia, Cholecystitis, Dystonia	ORPHA:309256
Progressive Supranuclear Palsy	Blepharospasm, Dystonia, Tremor, Rigidity	ORPHA:683
Hermansky-Pudlak Syndrome 10	Generalized hypotonia, Splenomegaly, Hepatomegaly, Dystonia, Axial hypotonia	OMIM:617050
Alternating Hemiplegia Of Childhood	Skewfoot, Failure to thrive, Hypotonia, Tremor, Rigidity, Facial hypotonia, Dystonia, Choreoathet...	ORPHA:2131
Niemann-Pick Disease, Type C2	Spasticity, Hypotonia, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, Jaundice, Dystonia	OMIM:607625
Mitochondrial Dna-Associated Leigh Syndrome	Spasticity, Hepatic failure, Failure to thrive, Low plasma citrulline, Hyperalaninemia, Infantile...	ORPHA:255210
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Hypotonia, Dystonia	OMIM:619167
Kcnq2-Related Epileptic Encephalopathy	Hypotonia, Dystonia	ORPHA:439218
Spinocerebellar Ataxia Type 8	Dystonia, Spasticity, Spastic dysarthria, Rigidity	ORPHA:98760
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Axial hypotonia, Dystonia, Spastic tetraplegia, Generalized dystonia	OMIM:618321
Young-Onset Parkinson Disease	Dystonia, Spasticity, Tremor, Rigidity	ORPHA:2828
Developmental And Epileptic Encephalopathy 38	Dystonia, Limb hypertonia, Axial hypotonia	OMIM:617020
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Facial hypotonia, Severe muscular hypotonia, Dystonia, Exaggerated startle response	ORPHA:438216
Metachromatic Leukodystrophy	Neoplasm of the gallbladder, Decerebrate rigidity, Tremor, Infantile muscular hypotonia, Abnormal...	ORPHA:512
Parkinson Disease, Late-Onset	Dystonia, Resting tremor, Tremor, Rigidity	OMIM:168600
Machado-Joseph Disease Type 1	Dystonia, Spasticity	ORPHA:276238
Machado-Joseph Disease Type 2	Dystonia, Spasticity	ORPHA:276241
Lipoid Proteinosis	Dystonia	ORPHA:530
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Failure to thrive, Polyspleni...	OMIM:306955
Machado-Joseph Disease Type 3	Dystonia, Spasticity	ORPHA:276244
Hereditary Late-Onset Parkinson Disease	Dystonia, Weight loss, Resting tremor, Rigidity	ORPHA:411602
Neurodegeneration With Brain Iron Accumulation 2B	Spasticity, Talipes calcaneovalgus, Hypertonia, Dystonia, Intention tremor	OMIM:610217
Mitochondrial Complex I Deficiency, Nuclear Type 2	Hypotonia, Dystonia, Increased serum pyruvate, Ankle clonus	OMIM:618222
Combined Oxidative Phosphorylation Deficiency 29	Dystonia, Spasticity, Generalized hypotonia	OMIM:616811
Leber Optic Atrophy	Dystonia, Postural tremor	OMIM:535000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic steatosis,...	OMIM:618278
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Spasticity, Failure to thrive, Hypoglycemia, Hyperglycemia, Hypotonia, Micrognathia, Hyperammonem...	OMIM:220111
Ataxia With Vitamin E Deficiency	Dystonia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:277460
Alzheimer Disease 3	Dystonia, Spastic tetraparesis	OMIM:607822
Niemann-Pick Disease Type C	Hepatic failure, Hypotonia, Hepatosplenomegaly, Limb dystonia, Axial dystonia, Tremor, Abnormalit...	ORPHA:646
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Toe clinodactyly, Sandal gap, Hypotonia, Hypocalcemia, Joint hypermobility, Short neck, Cutaneous...	OMIM:620330
Parkinson Disease 1, Autosomal Dominant	Dystonia, Resting tremor, Rigidity	OMIM:168601
Parkinson Disease 20, Early-Onset	Dystonia, Leg muscle stiffness, Tremor, Rigidity	OMIM:615530
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Spasticity, Abnormal foot morphology, Tremor, Rigidity, Dystonia, Choreoathetosis	OMIM:234200
Nmda Receptor Encephalitis	Oculogyric crisis, Neoplasm of the thymus, Rigidity, Opisthotonus, Dystonia, Choreoathetosis	ORPHA:217253
Hyperostosis Cranialis Interna	Osteosclerosis of the base of the skull, Hyperostosis cranialis interna, Calvarial hyperostosis	OMIM:144755
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dystonia, Spasticity, Limb dystonia, Elevated circulating creatine kinase concentration	OMIM:175780

Histopathology

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

Phenotype	Allele	Zygosity	Life Stage
Femur - MPATH pathological process term dystrophy	Slc39a14^{tm1b(NCOM)Mfgc}	HET	Early adult
Bone - MPATH pathological process term dystrophy	Slc39a14^{tm1b(NCOM)Mfgc}	HET	Early adult
Tibia - MPATH pathological process term dystrophy	Slc39a14^{tm1b(NCOM)Mfgc}	HET	Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slc39a14.

No publications found that use IMPC mice or data for Slc39a14.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Slc39a14^{tm1b(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Slc39a14^{tm1(NCOM)Cmhd}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Slc39a14^{tm1a(NCOM)Mfgc}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Slc39a14 MGI:2384851

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Pathology and Tissue Collection

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X-ray

Immunophenotyping

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Human diseases caused by Slc39a14 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data