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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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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Immunophenotyping

Panel B FCS file(s)

6 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 (1238 diseases)

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

Disease	Matching phenotypes	Source
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Oromandibular dystonia, Scissor gait, Scoliosis, Tremor, Spasticity, Dystonia, Ankle clonus, Hype...	ORPHA:521406
Hypermanganesemia With Dystonia 2	Oromandibular dystonia, Generalized dystonia, Scissor gait, Scoliosis, Tremor, Spasticity, Elevat...	OMIM:617013
Hyperostosis Cranialis Interna	Calvarial hyperostosis, Osteosclerosis of the base of the skull, Hyperostosis cranialis interna	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
Combined Low Ldl And Fibrinogen	Decreased LDL cholesterol concentration, Elevated circulating aspartate aminotransferase concentr...	OMIM:620364
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Increased serum bile acid concentration, Elevated circulating alanine aminotransfer...	OMIM:619874
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Disproportionate short-limb short stature, Epiphyseal stippling, Failure to thrive, 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 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh...	OMIM:118651
Congenital Disorder Of Glycosylation, Type Iik	Kyphoscoliosis, Diaphyseal dysplasia, Hepatomegaly, Elevated circulating creatine kinase concentr...	OMIM:614727
Metaphyseal Chondrodysplasia, Spahr Type	Abnormal metaphysis morphology, Disproportionate short stature, Reduced bone mineral density, Sco...	ORPHA:2501
Spondyloepiphyseal Dysplasia Tarda	Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse...	ORPHA:93284
Crigler-Najjar Syndrome, Type Ii	Jaundice, Elevated circulating hepatic transaminase concentration, Reduced tissue UDP-glucuronyl-...	OMIM:606785
Eiken Syndrome	Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabu...	ORPHA:79106
Isolated Glycerol Kinase Deficiency	Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration, Osteoporosis, Short...	ORPHA:408
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femor...	OMIM:619598
Pseudoachondroplasia	Disproportionate short-limb short stature, Abnormal form of the vertebral bodies, Short long bone...	ORPHA:750
Desbuquois Dysplasia 1	Sandal gap, Disproportionate short-limb short stature, Hyperlordosis, Flat acetabular roof, Kypho...	OMIM:251450
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Spinal rigidity, Reduced bone mineral density, Short long bone, Flat acet...	ORPHA:94068
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed puberty, Delayed thelarche, Scoliosis, Osteoporosis, Short stature, Short neck, Joint hyp...	OMIM:616033
Winchester Syndrome	Carpal osteolysis, Broad metacarpals, Kyphosis, Generalized osteoporosis, Osteolysis involving ta...	OMIM:277950
Brachyolmia Type 1, Hobaek Type	Osteopenia, Squared-off platyspondyly, Lumbar hypolordosis, Short iliac bones, Sclerotic foci of ...	OMIM:271530
Acrocapitofemoral Dysplasia	Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Hy...	OMIM:607778
Progressive Pseudorheumatoid Arthropathy Of Childhood	Hyperlordosis, Generalized osteoporosis, Broad femoral neck, Abnormality of hand joint mobility, ...	ORPHA:1159
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Dispro...	ORPHA:93351
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Reduced bone mineral density, Genu valgum, Torticollis, Truncal obesity, Broad femora...	OMIM:620639
Fibular Hemimelia	Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog...	ORPHA:93323
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Disproportionate short-...	ORPHA:174
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Delayed puberty, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase c...	ORPHA:369
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol...	ORPHA:93405
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Hypoplasia of the radius, Tarsal synost...	OMIM:112910
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the toes, Cone-shaped epiphyses of the phalanges of the hand, Hyperlordosis, T...	OMIM:226980
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Increased LDL cholesterol concentration, Impaired glucose tolerance, Osteop...	OMIM:610947
Progressive Pseudorheumatoid Dysplasia	Kyphoscoliosis, Abnormal foot morphology, Sclerotic vertebral endplates, Enlarged metacarpophalan...	OMIM:208230
Slc35A2-Cdg	Elevated circulating hepatic transaminase concentration, Increased circulating thyroglobulin conc...	ORPHA:356961
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,...	OMIM:127300
Odontochondrodysplasia 1	Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Delayed ossificati...	OMIM:184260
Epiphyseal Dysplasia, Multiple, 1	Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific...	OMIM:132400
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Reduced bone mineral density, Delayed ossification of carpal bones, Irregular acetabular roof, Sh...	OMIM:617974
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism, Osteoporosis	OMIM:615269
Hip Dysplasia, Beukes Type	Abnormal bone ossification, Abnormality of bone mineral density, Scoliosis, Hip dysplasia, Kyphos...	ORPHA:2114
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Short distal phalanx of finger, Brachydactyly, Joint hypermobility, Osteoporosis	ORPHA:2787
Extensor Tendons Of Finger Anomalies	Camptodactyly of finger, Limitation of joint mobility, Osteoporosis	ORPHA:3294
Diastrophic Dysplasia	Kyphoscoliosis, Short finger, Neonatal short-limb short stature, Genu valgum, Irregular epiphyses...	OMIM:222600
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Elevated circulating parathyroid hormone level, Genu valgum, Generalized bone deminerali...	OMIM:600785
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Flexion contracture of toe, Scoliosis, Kyphosis, Osteoporosis, Finger joint contracture, Short st...	ORPHA:48431
Hall-Riggs Syndrome	Scoliosis, Kyphosis, Osteoporosis, Failure to thrive, Metaphyseal dysplasia, Irregular vertebral ...	OMIM:234250
Prieto Syndrome	Radial deviation of finger, 11 pairs of ribs, Talipes equinovarus, Osteoporosis, Generalized hypo...	OMIM:309610
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Equinovarus deformity, Talipes calcaneovarus, Fractures of the long bones, Wide humer...	ORPHA:319195
Hemidystonia-Hemiatrophy Syndrome	Rhizomelic leg shortening, Dense calvaria, Limb dystonia, Hemiatrophy, Dystonia	ORPHA:306741
Bruck Syndrome 1	Ankle flexion contracture, Vertebral wedging, Scoliosis, Elbow flexion contracture, Kyphosis, Ost...	OMIM:259450
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Reduced bone mineral density, Delayed ossification of carpal bones, Decreased body weight, Kyphos...	OMIM:618392
Short Stature, Dauber-Argente Type	Osteopenia, Postnatal growth retardation, Increased insulin like growth factor binding protein ac...	OMIM:619489
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga...	ORPHA:1972
Perrault Syndrome 1	Pes cavus, Scoliosis, Osteoporosis, Intention tremor, Short stature, Increased circulating gonado...	OMIM:233400
Forsythe-Wakeling Syndrome	Growth delay, Decreased body weight, Osteoporosis, Short stature	OMIM:613606
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Postnatal growth retardation, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Scoliosis...	OMIM:618728
Gilbert Syndrome	Unconjugated hyperbilirubinemia, Jaundice, Elevated circulating hepatic transaminase concentratio...	OMIM:143500
Urban-Rogers-Meyer Syndrome	Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Recurr...	ORPHA:3409
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Disproportionate short-limb short stature, Aplasia/Hypopla...	ORPHA:2098
Epiphyseal Dysplasia, Multiple, 7	Monkey wrench femoral neck, Vertebral wedging, Flat acetabular roof, Epiphyseal dysplasia, Hypopl...	OMIM:617719
Osteogenesis Imperfecta, Type Xxi	Disproportionate short-limb short stature, Scoliosis, Osteoporosis, Coxa vara, Bowing of the arm,...	OMIM:619131
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo...	OMIM:201250
Iron Overload, Susceptibility To	Elevated circulating hepcidin concentration, Elevated hepatic iron concentration, Increased circu...	OMIM:620121
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Disproportionate short-limb short statur...	ORPHA:240
Multiple Epiphyseal Dysplasia Type 1	Genu valgum, Knee joint hypermobility, Arthralgia of the hip, Delayed epiphyseal ossification, Sh...	ORPHA:93308
Spondylometaphyseal Dysplasia, Corner Fracture Type	Hyperconvex vertebral body endplates, Corner fracture of metaphysis, Scoliosis, Coxa vara, Short ...	OMIM:184255
Hemochromatosis, Type 5	Abnormal circulating transferrin concentration, Abnormal circulating copper concentration, Abnorm...	OMIM:615517
Gnathodiaphyseal Dysplasia	Osteopenia, Recurrent fractures, Scoliosis, Bowing of the long bones, Thickened cortex of long bo...	ORPHA:53697
Femoral-Facial Syndrome	Abnormal fibula morphology, Maternal diabetes, Scoliosis, Vertebral segmentation defect, Abnormal...	ORPHA:1988
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M...	OMIM:249700
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Abnormality of the ve...	OMIM:250460
Pseudohypoparathyroidism, Type Ia	Short finger, Elevated circulating parathyroid hormone level, Short metatarsal, Short metacarpal,...	OMIM:103580
Autosomal Dominant Focal Dystonia, Dyt25 Type	Torticollis, Axial dystonia, Lingual dystonia, Craniofacial dystonia, Limb dystonia, Focal dyston...	ORPHA:329466
Pseudopseudohypoparathyroidism	Short metatarsal, Short metacarpal, Osteoporosis, Short stature, Pseudohypoparathyroidism, Obesit...	OMIM:612463
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ...	OMIM:612462
Osteogenesis Imperfecta, Type Xxii	Abnormal blood phosphate concentration, Reduced bone mineral density, Slender long bone, Multiple...	OMIM:619795
Epiphyseal Dysplasia, Multiple, 5	Genu valgum, Irregular epiphyses, Arthralgia of the hip, Small epiphyses, Delayed ossification of...	OMIM:607078
Crigler-Najjar Syndrome, Type I	Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia	OMIM:218800
Hypergonadotropic Hypogonadism-Cataract Syndrome	Delayed puberty, Absence of secondary sex characteristics, Reduced bone mineral density, Osteopor...	ORPHA:2410
Osteosclerotic Metaphyseal Dysplasia	Clavicular sclerosis, Increased bone mineral density, Failure to thrive, Metaphyseal dysplasia, H...	OMIM:615198
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Osteoporosis, Bilateral talipes equinovarus, Generalized hypotonia, Finger clinodactyly, Patellar...	ORPHA:2958
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis, Scoliosis, Kyphosis, Osteoporosis, Failure to thr...	OMIM:618234
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal cortical bone morphology, Abnorma...	ORPHA:3344
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteopenia, Delayed puberty, Osteoporosis	OMIM:615271
Osteogenesis Imperfecta, Type Xiii	Kyphoscoliosis, Reduced bone mineral density, Limitation of knee mobility, Wide distal femoral me...	OMIM:614856
Premature Ovarian Failure 2B	Delayed puberty, Osteoporosis	OMIM:300604
Congenital Disorder Of Glycosylation, Type Iip	Decreased liver function, Elevated circulating alkaline phosphatase concentration, Elevated circu...	OMIM:616829
Bruck Syndrome	Scoliosis, Bowing of the long bones, Kyphosis, Osteoporosis, Joint stiffness, Short stature, Plat...	ORPHA:2771
Paget Disease Of Bone 2, Early-Onset	Vertebral compression fracture, Sandwich appearance of vertebral bodies, Osteosclerosis of the ul...	OMIM:602080
Bent Bone Dysplasia Syndrome 2	Hypoplastic iliac wing, Femoral bowing, Short ribs, Short lower limbs, Intrauterine growth retard...	OMIM:620076
Warburg Micro Syndrome 1	Kyphoscoliosis, Osteoporosis, Short stature, Failure to thrive, Micrognathia, Hypotonia, Joint hy...	OMIM:600118
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, Coxa vara, Sh...	OMIM:147891
Hjv Or Hamp-Related Hemochromatosis	Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration, Abnorma...	ORPHA:79230
Pseudoachondroplasia	Disproportionate short-limb short stature, Short long bone, Short metacarpal, Kyphosis, Metaphyse...	OMIM:177170
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Postnatal growth retardation, Clinodactyly of the 5th finger, Small for gestational age, Severe p...	ORPHA:73272
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Scoliosis, Femoral bowing, Osteoporosis, Severe short stature, Platyspondyly, Recurre...	OMIM:126550
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum	Spastic gait, Hypertonia, Decreased body weight, Cogwheel rigidity, Growth delay, Short stature, ...	OMIM:618284
Spondyloepiphyseal Dysplasia, Maroteaux Type	Kyphoscoliosis, Genu valgum, Generalized osteoporosis, Short palm, Atlantoaxial instability, Shor...	OMIM:184095
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr...	OMIM:232700
Osteogenesis Imperfecta, Type X	Osteopenia, Genu valgum, Fibular bowing, Rhizomelia, Vertebral compression fracture, Scoliosis, T...	OMIM:613848
Geroderma Osteodysplastica	Beaking of vertebral bodies, Abnormal bone ossification, Talipes, Vertebral compression fracture,...	ORPHA:2078
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal metaphysis morphology, Reduced bone mineral density, Clinodactyly of the 5th finger, Abn...	ORPHA:2370
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Adducted thumb, Small for gestational age, Flared metaphysis, Short ribs, Decreased s...	OMIM:616897
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Fibular bowing, Delayed epiphyseal ossification, Hypocalcemia, Enlargement of the ankles...	OMIM:600081
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Isosexual precocious puberty, Abnormal femoral neck/head morphology, Crumpled long bo...	ORPHA:2788
Brachyolmia Type 1, Toledo Type	Kyphoscoliosis, Squared-off platyspondyly, Abnormal odontoid process morphology, Precocious costo...	OMIM:271630
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Platyspondyly, Cone-shaped epiphysis, Osteoporosis, Short stature	ORPHA:71267
Atelosteogenesis Type I	Absent or minimally ossified vertebral bodies, Abnormal fibula morphology, Rhizomelia, Abnormal p...	ORPHA:1190
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Scoliosis, Hypermobility of interphalangeal joints, Bowi...	OMIM:613849
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Hypercholestero...	OMIM:619868
Schwartz-Jampel Syndrome, Type 1	Kyphoscoliosis, Flexion contracture of toe, Wrist flexion contracture, Anterior bowing of long bo...	OMIM:255800
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Broad femoral neck, Severe short stature, Hump-shaped mound of bone in central and posterior port...	ORPHA:99642
Dystonia 33	Pes cavus, Axial dystonia, Spasticity, Limb dystonia, Axial hypotonia, Dystonia	OMIM:619687
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Kyphosis, Osteoporosis, Short stature	ORPHA:2786
Multiple Epiphyseal Dysplasia, Lowry Type	Fibular hypoplasia, Genu valgum, Rhizomelia, Fixed elbow flexion, Small epiphyses, Delayed epiphy...	ORPHA:166016
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Flared femoral metaphysis, Genu valgum, Flat distal femoral epiphysis, Arthralgia of the hip, Irr...	OMIM:609324
Ghosal Hematodiaphyseal Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal c...	ORPHA:1802
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Elevated circulating parathyroid hormone level, Flared metaphysis, Metaphyseal cuppin...	OMIM:619073
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Osteo...	ORPHA:79301
Flynn-Aird Syndrome	Kyphoscoliosis, Increased bone mineral density, Osteoporosis, Joint stiffness, Increased bone den...	OMIM:136300
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sple...	OMIM:614480
Sialidosis Type 2	Hepatomegaly, Tremor, Kyphosis, Osteoporosis, Short stature, Flexion contracture, Generalized hyp...	ORPHA:87876
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Osteopenia, Short stature, Failure to thrive, Slender build, Slender long bones with narrow diaph...	ORPHA:50811
Cerebrooculofacioskeletal Syndrome 1	Kyphoscoliosis, Rocker bottom foot, Second metatarsal posteriorly placed, Elbow flexion contractu...	OMIM:214150
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated...	OMIM:605274
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of...	OMIM:609616
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Kyphoscoliosis, Hyperlordosis, Short long bone, Flattened epiphysis, Joint hypermobility, Coxa va...	OMIM:618363
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Kyphoscoliosis, Delayed pubic bone ossification, Proximal placement of thumb, Hypoplastic iliac w...	OMIM:613330
Achondroplasia	Narrow greater sciatic notch, Femoral bowing, Short ribs, Trident hand, Lumbar kyphosis in infanc...	OMIM:100800
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Osteoarthritis of the elbow, Hip osteoarthritis, Abnormal femoral head morphology, Br...	ORPHA:2619
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o...	OMIM:241530
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Osteoporosis	Osteoporosis	OMIM:166710
Hyaline Fibromatosis Syndrome	Osteopenia, Osteoporosis, Failure to thrive, Flexion contracture, Progressive flexion contracture...	OMIM:228600
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly,...	OMIM:616278
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Dystonia 4, Torsion, Autosomal Dominant	Generalized dystonia, Torticollis, Torsion dystonia, Limb dystonia, Slender build, Hemidystonia	OMIM:128101
Metatropic Dysplasia	Kyphoscoliosis, Narrow greater sciatic notch, Relatively short spine, Disproportionate short-limb...	OMIM:156530
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Kyphosis, Fla...	ORPHA:93314
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Absent pate...	OMIM:601559
Rhyns Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Pitu...	OMIM:602152
Epiphyseal Dysplasia, Multiple, 4	Flat capital femoral epiphysis, Talipes equinovarus, Scoliosis, Short metacarpal, Hypoplasia of t...	OMIM:226900
Mucopolysaccharidosis, Type Iva	Anterior beaking of lumbar vertebrae, Lumbar kyphosis, Genu valgum, Joint hypermobility, Hepatome...	OMIM:253000
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Femoral bowing, Tibial bowing, Hypophosphatemia, Metaphyseal irregularity, Rickets, Fibular bowin...	OMIM:264700
Thanatophoric Dysplasia Type 1	Abnormal metaphysis morphology, Short greater sciatic notch, Wide anterior fontanel, Femoral bowi...	ORPHA:1860
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Male...	OMIM:615381
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hydroxyprolinemia, Hyperuricemia, Increased bone mineral density, Bowing of the long ...	OMIM:239000
Hypochondroplasia	Limited elbow extension, Disproportionate short-limb short stature, Flared metaphysis, Short long...	OMIM:146000
Metaphyseal Chondrodysplasia, Schmid Type	Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia...	OMIM:156500
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Abnormal metaphysis morphology, Flat capital femoral epiphysis, Broad femoral neck, F...	ORPHA:157965
Juvenile Paget Disease	Cranial hyperostosis, Hyperuricemia, Bowing of the long bones, Osteoporosis, Short stature, Coars...	ORPHA:2801
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Small epiphyses, Joint hypermobility, Scoliosis, Short long bone, Limb dystonia, Short stature, L...	OMIM:620269
Atelosteogenesis Type Ii	Sandal gap, Tracheobronchomalacia, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shap...	ORPHA:56304
Bile Acid Conjugation Defect 1	Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Conjugated h...	OMIM:619232
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	Flared metaphysis, Short middle phalanx of the 5th finger, Multiple small vertebral fractures, Os...	OMIM:156510
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Fibular hypoplasia, Short stature, Absent thumb, Aplasia/Hypoplasia of th...	OMIM:612447
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Kyphosis, ...	OMIM:603546
Dietary Iron Overload Disease	Abnormal adrenal morphology, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma...	ORPHA:139507
Spondyloepimetaphyseal Dysplasia, Shohat Type	Generalized bone demineralization, Hyperlordosis, Short long bone, Severe short stature, Metaphys...	ORPHA:93352
Vitamin D-Dependent Rickets, Type 2A	Femoral bowing, Tibial bowing, Hypophosphatemia, Metaphyseal irregularity, Rickets, Fibular bowin...	OMIM:277440
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Postnatal growth retardation, Maturity-onset diabetes of the young, Scoliosis, Intrauterine growt...	ORPHA:254531
Ruijs-Aalfs Syndrome	Thoracic kyphoscoliosis, Elbow flexion contracture, Decreased body weight, Osteoporosis, Hepatoce...	OMIM:616200
Pyle Disease	Limited elbow extension, Reduced bone mineral density, Genu valgum, Scoliosis, Hypoplastic fronta...	OMIM:265900
Multiple Epiphyseal Dysplasia, Beighton Type	Lumbar platyspondyly, Abnormal hand metaphysis morphology, Biconcave vertebral bodies, Joint stif...	ORPHA:166011
Ovarian Dysgenesis 1	Increased circulating gonadotropin level, Osteoporosis	OMIM:233300
Weismann-Netter Syndrome	Fibular bowing, Anterior tibial bowing, Scoliosis, Calvarial hyperostosis, Horizontal sacrum, Kyp...	OMIM:112350
Mucopolysaccharidosis, Type Ivb	Hyperlordosis, Kyphosis, Joint stiffness, Constricted iliac wing, Joint hypermobility, Coxa valga...	OMIM:253010
Cholestasis, Intrahepatic, Of Pregnancy, 1	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Abno...	OMIM:147480
Mycetoma	Vertebral compression fracture, Abnormal form of the vertebral bodies, Bone cyst, Abnormal append...	ORPHA:2583
Cantu Syndrome	Large for gestational age, Short hallux, Hypoplastic ischiopubic ramus, Osteoporosis, Ovoid verte...	OMIM:239850
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Bone cyst, Knee osteoarthritis, Osteoporosis, Coxa vara, Camptodacty...	ORPHA:2848
Cranioectodermal Dysplasia	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Rh...	ORPHA:1515
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lower limb spasticity, Scoliosis, Kyphosis, Short stature, Obesity, Dystonia, Lumbar hyperlordosi...	OMIM:616756
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Scoliosis, Epiphyseal dysplasia, Arachnodactyly, Long hallux, Broad hallux, Abnormal ...	OMIM:615923
Atelosteogenesis, Type I	Disproportionate short-limb short stature, Clubbing, Tibial bowing, Short metacarpal, Short humer...	OMIM:108720
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased circu...	OMIM:613313
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Classic Galactosemia	Delayed puberty, Reduced bone mineral density, Elevated circulating hepatic transaminase concentr...	ORPHA:79239
Congenital Disorder Of Glycosylation, Type Ig	Butterfly vertebrae, Hypoplasia of the radius, Rhizomelia, Sandal gap, Hypocalcemia, Short ribs, ...	OMIM:607143
Dystonia 25	Laryngeal dystonia, Lingual dystonia, Torticollis, Limb dystonia	OMIM:615073
Dystonia 30	Oromandibular dystonia, Torticollis, Leg dystonia, Writer's cramp, Dystonia, Arm dystonia	OMIM:619291
Morgagni-Stewart-Morel Syndrome	Hyperuricemia, Abnormality of the endocrine system, Hyperostosis frontalis interna, Osteoporosis,...	ORPHA:77296
Hypophosphatemic Rickets, X-Linked Dominant	Femoral bowing, Tibial bowing, Hypophosphatemia, Metaphyseal irregularity, Rickets, Fibular bowin...	OMIM:307800
Dermatosparaxis Ehlers-Danlos Syndrome	Rickets, Osteopenia, Scoliosis, Osteoporosis, Coxa vara, Joint stiffness, Micrognathia, Severe sh...	ORPHA:1901
Mu-Heavy Chain Disease	Hepatomegaly, Osteoporosis, Splenomegaly, Weight loss, Osteolysis	ORPHA:100024
Symptomatic Form Of Hfe-Related Hemochromatosis	Joint stiffness, Splenomegaly, Abnormal metacarpophalangeal joint morphology, Hepatocellular carc...	ORPHA:465508
Infantile Systemic Hyalinosis	Osteopenia, Abnormality of the adrenal glands, Osteoporosis, Micromelia, Joint stiffness, Short p...	ORPHA:2176
Spastic Paraplegia 90A, Autosomal Dominant	Spastic gait, Appendicular spasticity, Scoliosis, Short stature, Failure to thrive, Axial hypoton...	OMIM:620416
Mucolipidosis Type Iii	Reduced bone mineral density, Abnormal hip bone morphology, Craniofacial hyperostosis, Abnormal f...	ORPHA:577
Methylcobalamin Deficiency Type Cble	Postnatal growth retardation, Hyperhomocystinemia, Scoliosis, Osteoporosis, Failure to thrive, Lo...	ORPHA:2169
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyper...	OMIM:214900
Orofaciodigital Syndrome Viii	Polydactyly, Short tibia, Syndactyly, Short stature	OMIM:300484
Rothmund-Thomson Syndrome, Type 1	Short stature, Male hypogonadism, Hypothyroidism, Osteoporosis	OMIM:618625
Multicentric Osteolysis, Nodulosis, And Arthropathy	Kyphoscoliosis, Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contractu...	OMIM:259600
Pelviscapular Dysplasia	Elbow flexion contracture, Hypoplastic ilia, Congenital hip dislocation, Humeroradial synostosis,...	ORPHA:93333
Ovarian Dysgenesis 8	Decreased cirrculating antimullerian hormone circulation, Osteoporosis, Eunuchoid habitus, Elevat...	OMIM:618187
Primary Dystonia, Dyt27 Type	Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto...	ORPHA:464440
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il...	OMIM:271640
Menkes Disease	Hypertonia, Decreased circulating ceruloplasmin concentration, Metaphyseal spurs, Osteoporosis, S...	OMIM:309400
Hemochromatosis, Neonatal	Cirrhosis, Abnormality of iron homeostasis, Cholestasis, Hepatocellular necrosis, Prolonged neona...	OMIM:231100
Hereditary Sensory And Autonomic Neuropathy Type 2	Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Hy...	ORPHA:970
Biliary Atresia, Extrahepatic	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:210500
Orofaciodigital Syndrome Type 10	Metatarsal synostosis, Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm sh...	ORPHA:2756
Striatonigral Degeneration, Childhood-Onset	Hypertonia, Craniofacial dystonia, Elevated circulating creatine kinase concentration, Dystonia, ...	OMIM:617054
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Congenital bilateral hip dislocation, Congenital knee dislocation, Scoliosis, Prematu...	OMIM:130060
Osteogenesis Imperfecta, Type Xvii	Kyphoscoliosis, Reduced bone mineral density, Thin metacarpal cortices, Vertebral compression fra...	OMIM:616507
Congenital Disorder Of Glycosylation, Type Iiy	Scoliosis, Reduced bone mineral density, Hip subluxation, Hypotonia	OMIM:620200
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Increased serum zinc	OMIM:601979
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Restricted large joint movement, Abnormal vertebral morphology, Maternal diabetes, Small epiphyse...	ORPHA:93346
Acrofacial Dysostosis Syndrome Of Rodriguez	Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Wide anterior fontanel, Oligodactyly, ...	OMIM:201170
Pontocerebellar Hypoplasia, Type 2E	Neonatal hypotonia, Hypertonia, Scoliosis, Spasticity, Osteoporosis, Short stature, Failure to th...	OMIM:615851
Familial Hyperprolactinemia	Osteopenia, Osteoporosis, Female hypogonadism	ORPHA:397685
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Pancreatitis, Decreased circulating ACTH concentration, Pigmented micronodular adreno...	OMIM:610475
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity...	ORPHA:93322
Chondrodysplasia With Joint Dislocations, Gpapp Type	Limited elbow extension, Capitate-hamate fusion, Genu valgum, Intervertebral space narrowing, Irr...	OMIM:614078
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosp...	OMIM:617093
Protoporphyria, Erythropoietic, X-Linked	Increased erythrocyte protoporphyrin concentration, Elevated circulating hepatic transaminase con...	OMIM:300752
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Oromandibular dystonia, Scissor gait, Scoliosis, Tremor, Spasticity, Dystonia, Ankle clonus, Hype...	ORPHA:521406
Diarrhea 13	Hypoalbuminemia, Hepatic steatosis, Elevated circulating hepatic transaminase concentration	OMIM:620357
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Spastic tetraplegia, Osteoporosis	OMIM:619971
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Severe short stature, Osteoporosis	OMIM:204730
Dystonia 6, Torsion	Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Lingual dystonia, Limb dys...	OMIM:602629
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Hypogonadism, Delayed puberty, Osteoporosis	OMIM:615270
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Eleva...	OMIM:616860
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:98754
Geroderma Osteodysplasticum	Osteopenia, Kyphoscoliosis, Beaking of vertebral bodies, Vertebral compression fracture, Hyperext...	OMIM:231070
Spondyloepimetaphyseal Dysplasia, Missouri Type	Disproportionate short stature, Small epiphyses, Flared metaphysis, Pear-shaped vertebrae, Knee o...	ORPHA:93356
Acth-Independent Macronodular Adrenal Hyperplasia 2	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight...	OMIM:615954
Estrogen Resistance Syndrome	Osteopenia, Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulating horm...	ORPHA:785
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Small pituitary gland, Genu valgum, Osteoporosis	OMIM:614880
Primary Dystonia, Dyt13 Type	Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Action tremor, Focal dystoni...	ORPHA:98807
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Hypoplastic ...	ORPHA:93315
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Bilateral coxa valga, Tremor, Limb dystonia, Obesity, Hypotonia, Intrauterine growth retardation	OMIM:620270
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Increased serum testosterone level, Decreased circulating ACTH concentration, Pigment...	OMIM:610489
Achondrogenesis Type 2	Abnormal bone ossification, Delayed pubic bone ossification, Short long bone, Short ribs, Hypopla...	ORPHA:93296
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing...	OMIM:608728
Hypocalcemic Vitamin D-Dependent Rickets	Femoral bowing, Tibial bowing, Splenomegaly, Hypophosphatemia, Genu varum, Rickets, Hypocalcemia,...	ORPHA:289157
Microcephaly-Micromelia Syndrome	Oligodactyly, Forearm undergrowth, Micromelia, Humeroradial synostosis, Short neck, Missing ribs,...	OMIM:251230
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Kyphoscoliosis, Rocker bottom foot, Abnormal hip bone morphology, Hyperlordosis, Short long bone,...	ORPHA:457395
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Femoral bowing, Dumbbell-shaped long bone, Micromelia, Micrognathia, Metaphyseal wide...	ORPHA:440354
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:98793
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal foot morphology, Aplasia/hypoplasia in...	ORPHA:75508
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Kyphoscoliosis, Pancreatitis, Hyperhomocystinemia, Scoliosis, Limitation of joint mobility, Osteo...	OMIM:236200
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Vertebral wedging, Scoliosis, Biconcave vertebral bodies, Multiple prenat...	OMIM:301014
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:177904
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Delayed puberty, Neoplasm of the pancreas, Elevated circulating hepatic transaminase ...	ORPHA:2959
Spastic Paraplegia 90B, Autosomal Recessive	Appendicular spasticity, Short stature, Failure to thrive, Axial hypotonia, Joint contracture, Dy...	OMIM:620417
Acheiropody	Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to...	OMIM:200500
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:177901
Spondylo-Ocular Syndrome	Abnormal intervertebral disk morphology, Joint hypermobility, Facial hypotonia, Thoracic kyphosis...	ORPHA:85194
Multiple Epiphyseal Dysplasia Type 4	Skewfoot, Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Abnormal forearm bo...	ORPHA:93307
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Kyphoscoliosis, Oromandibular dystonia, Tremor, Finger joint contracture, Symphalangism of the th...	OMIM:620494
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteopenia, Absence of pubertal development, Hypogonadism, Osteoporosis	OMIM:615267
Dystonia 27	Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo...	OMIM:616411
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o...	OMIM:300554
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Kyphosis, Slender metacarpals, Metaphyseal irregularity, Joint hypermobility, Gen...	ORPHA:93360
Niemann-Pick Disease, Type A	Hepatomegaly, Spasticity, Athetosis, Osteoporosis, Elevated circulating alanine aminotransferase ...	OMIM:257200
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Spastic tetraparesis, Failure to thrive, Dystonia, Hypoglycemia	ORPHA:67046
Progressive Familial Intrahepatic Cholestasis	Reduced bone mineral density, Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Short stature, F...	ORPHA:172
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Osteoporo...	OMIM:219080
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia	OMIM:246570
Dystonia, Early-Onset, And/Or Spastic Paraplegia	Spastic paraplegia, Dystonia, Laryngeal dystonia	OMIM:619681
Ivic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T...	OMIM:147750
Axial Spondylometaphyseal Dysplasia	Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short...	ORPHA:168549
Microphthalmia With Limb Anomalies	Sandal gap, Abnormal form of the vertebral bodies, Short long bone, Tibial bowing, Broad thumb, J...	ORPHA:1106
Prader-Willi Syndrome	Delayed puberty, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Radial deviation ...	OMIM:176270
Dyggve-Melchior-Clausen Disease	Abnormal hip bone morphology, Abnormal femoral head morphology, Short long bone, Spastic tetrapar...	ORPHA:239
Autosomal Recessive Kenny-Caffey Syndrome	Postnatal growth retardation, Hypocalcemic seizures, Calvarial osteosclerosis, Congenital hypopar...	ORPHA:93324
Osteogenesis Imperfecta, Type Xviii	Vertebral compression fracture, Femoral bowing, Bowing of the long bones, Generalized osteoporosi...	OMIM:617952
Spondyloepimetaphyseal Dysplasia, Shohat Type	Narrow greater sciatic notch, Disproportionate short-limb short stature, Short ribs, Splenomegaly...	OMIM:602557
Propionic Acidemia	Hepatomegaly, Pancreatitis, Limb hypertonia, Osteoporosis, Short stature, Failure to thrive, Axia...	OMIM:606054
Kyphomelic Dysplasia	Disproportionate short stature, Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped h...	OMIM:211350
Gracile Syndrome	Cirrhosis, Decreased transferrin saturation, Cholestasis, Elevated hepatic iron concentration, In...	ORPHA:53693
Atelosteogenesis Type Iii	Short tubular bones of the hand, Fibular aplasia, Absent radius, Epiphyseal stippling of the hume...	ORPHA:56305
Nail-Patella Syndrome	Spondylolysis, Reduced bone mineral density, Spondylolisthesis, Abnormal femur morphology, Disloc...	ORPHA:2614
Insulin-Like Growth Factor I Deficiency	Osteopenia, Postnatal growth retardation, Clinodactyly of the 5th finger, Decreased body weight, ...	OMIM:608747
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Glucose intoler...	OMIM:235200
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Osteoporosis, Absence of pubertal development, Obesity, Diabetes mellitus, Hypogonadotropic hypog...	OMIM:610628
Sim1-Related Prader-Willi-Like Syndrome	Small pituitary gland, Hypogonadism, Hypothalamic luteinizing hormone-releasing hormone deficienc...	ORPHA:398079
Cleidocranial Dysplasia	Decreased skull ossification, Abnormal epiphysis morphology, Abnormal sacrum morphology, Abnormal...	ORPHA:1452
Osteogenesis Imperfecta, Type V	Osteopenia, Anterior radial head dislocation, Vertebral wedging, Hyperextensibility of the finger...	OMIM:610967
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Beaking of vertebral bodies, Neonatal hypotonia, Lumbar platyspondyly, Increased intervertebral s...	OMIM:618961
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Delayed puberty, Absence of secondary sex characteristics, Reduced bone mineral density, Reduced ...	ORPHA:2235
Pituitary Adenoma 4, Acth-Secreting	Vertebral compression fracture, Hypokalemia, Impaired glucose tolerance, Kyphosis, Osteoporosis, ...	OMIM:219090
Achondroplasia	Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Kyphosis, Trident hand, Cerv...	ORPHA:15
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Increased body weight, Osteoporosis, Adrenal hyperplasia, Diabetes mellitus, Primary ...	OMIM:615830
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Rickets, Hepatomegaly, Osteoporosis, Failure to thrive, Hypotonia, Type I diabetes mellitus	OMIM:560000
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Limb hypertonia, Scoliosis, Short metacarpal, Kyphosis, Osteopor...	OMIM:617190
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Genu valgum, Metaphyseal striations, Short stature, Failure to thrive, Slender build,...	OMIM:608154
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Generalized joint hypermobility, Pes planus, Cervical C2/C3 vertebral fusion, Hammert...	OMIM:618000
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Postnatal growth retardation, Genu valgum, Metaphyseal sclerosis, Scoliosis, Tremor, ...	OMIM:612199
Beta-Thalassemia Intermedia	Osteopenia, Decreased liver function, Cirrhosis, Reduced bone mineral density, Jaundice, Abnormal...	ORPHA:231222
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Sandal gap, Enlarged metaphyses, Dislocated radial head, Generalized osteoporosis, Joint hypermob...	OMIM:245600
Spastic Paraplegia 47, Autosomal Recessive	Neonatal hypotonia, Hypertonia, Genu recurvatum, Spasticity, Short stature, Spastic paraplegia, D...	OMIM:614066
Spastic Paraplegia 87, Autosomal Recessive	Spastic gait, Lower limb spasticity, Upper limb spasticity, Dystonia, Lumbar hyperlordosis	OMIM:619966
19P13.3 Microduplication Syndrome	Kyphoscoliosis, Pes cavus, Hip subluxation, Osteoporosis, Growth delay, Precocious puberty, Long ...	ORPHA:447980
Temple Syndrome	Postnatal growth retardation, Decreased response to growth hormone stimulation test, Clinodactyly...	ORPHA:254516
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Scoliosis, Femoral bowing, Short stature, Recurrent fractures, Increased susceptibili...	OMIM:615066
Gaucher Disease Type 1	Delayed puberty, Decreased HDL cholesterol concentration, Erlenmeyer flask deformity of the femur...	ORPHA:77259
Aicardi-Goutieres Syndrome 9	Elevated circulating hepatic transaminase concentration, Spastic tetraparesis, Lower limb hyperto...	OMIM:619487
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Carpal bone hypoplasia, Pes planus, Joint hypermobility, Dislocated radia...	OMIM:618395
Slc39A8-Cdg	Osteopenia, Hypomanganesemia, Disproportionate short-limb short stature, Abnormal blood zinc conc...	ORPHA:468699
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Arachnodactyly, Slender long bones with narrow diaphyses, Joint hypermobility, Ad...	ORPHA:536467
Idiopathic Copper-Associated Cirrhosis	Copper accumulation in liver, Increased circulating copper concentration, Cirrhosis, Hepatic stea...	ORPHA:209919
Aromatase Deficiency	Osteopenia, Genu valgum, Delayed epiphyseal ossification, Hyperlipidemia, Osteoporosis, Hypergona...	ORPHA:91
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Postnatal growth retardation, Irregular epiphyses, Hip osteoarthritis, Hypoplastic iliac wing, Sc...	OMIM:313400
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Postnatal growth retardation, Wide distal femoral metaphysis, Delayed epiphyseal ossification, Me...	OMIM:613320
Mitochondrial Complex I Deficiency, Nuclear Type 23	Scoliosis, Growth delay, Dystonia, Generalized hypotonia, Hypotonia	OMIM:618244
Sandhoff Disease, Adult Form	Spasticity, Tremor, Elevated circulating creatine kinase concentration, Focal dystonia, Dystonia	ORPHA:309169
Stüve-Wiedemann Syndrome	Absent patellar reflexes, Flexion contracture of finger, Intrauterine growth retardation, Sacral ...	ORPHA:3206
Hyperparathyroidism, Transient Neonatal	Osteopenia, Subperiosteal bone formation, Splenic cyst, Femoral bowing, Short long bone, Metaphys...	OMIM:618188
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1	Intrauterine growth retardation, Dystonia, Axial hypotonia, Spastic tetraplegia	OMIM:251280
Dystonia, Dopa-Responsive	Pes cavus, Writer's cramp, Torticollis, Transient hyperphenylalaninemia, Resting tremor, Scoliosi...	OMIM:128230
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de...	ORPHA:289176
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Carpal osteolysis, Abnormal form of the vertebral bodies, Osteolysis involving bones ...	ORPHA:371428
Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction	Short stature, Spasticity, Dystonia, Spastic tetraparesis	OMIM:620515
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hypertriglyceridemia, Spinal rigidity, Hyperinsulinemia, Elevated circulating hepatic...	OMIM:613327
Dominant Beta-Thalassemia	Delayed puberty, Cirrhosis, Genu valgum, Jaundice, Abnormality of iron homeostasis, Hypoparathyro...	ORPHA:231226
Acromicric Dysplasia	Short long bone, Short metacarpal, Short foot, Short palm, Short phalanx of finger, Ovoid vertebr...	OMIM:102370
Spondylometaphyseal Dysplasia, Schmidt Type	Kyphoscoliosis, Narrow greater sciatic notch, Short long bone, Severe short stature, Abnormality ...	ORPHA:93316
Xp21 Deletion Syndrome	Hypertriglyceridemia, Neonatal hypotonia, Reduced bone mineral density, Calf muscle hypertrophy, ...	ORPHA:261476
Endove Syndrome, Limb-Only Type	Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ...	OMIM:619217
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Scler...	OMIM:619662
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Reduced bone mineral density, Premature epimetaphyseal fusion, Symmetric polyarthriti...	ORPHA:85435
Spondylometaphyseal Dysplasia, Pagnamenta Type	Short 4th metacarpal, Rhizomelia, Thoracic kyphosis, Femoral bowing, Broad thumb, Hypotonia, Plat...	OMIM:619638
Idiopathic Juvenile Osteoporosis	Vertebral compression fracture, Kyphosis, Recurrent fractures, Osteoporosis	ORPHA:85193
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Growth delay, Camptodactyly, Syndactyly, Osteoporosis	OMIM:616006
Prader-Willi Syndrome	Small pituitary gland, Decreased circulating gonadotropin concentration, Hypogonadism, Central ad...	ORPHA:739
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr...	OMIM:602347
Desbuquois Dysplasia 2	Short long bone, Flat acetabular roof, Short metacarpal, Broad thumb, Severe short stature, Joint...	OMIM:615777
Kniest Dysplasia	Tibial bowing, Dumbbell-shaped long bone, Hypoplastic pelvis, Dumbbell-shaped femur, Genu varum, ...	OMIM:156550
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Scoliosis, Areflexia of lower limbs, Kyphosis, Hand clenching, Micrognathia, ...	OMIM:611890
Dyggve-Melchior-Clausen Disease	Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape...	OMIM:223800
Lethal Recessive Chondrodysplasia	Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowth, Generalized...	ORPHA:1423
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Scoliosis, Amelia, Foot oligodactyly, Short femur	OMIM:601357
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Postnatal growth retardation, Decreased response to growth hormone stimulation test, ...	OMIM:614732
Coxoauricular Syndrome	Reduced bone mineral density, Abnormal femur morphology, Abnormal pelvic girdle bone morphology, ...	ORPHA:1508
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Failure to thrive, Dystonia, Flexion contracture, Generalized hypotonia, Intrauterine g...	OMIM:618237
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Short finger, 2-3 toe cutaneous syndactyly, Neonatal hypotonia, Clinodactyly of the 5th finger, S...	OMIM:300998
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Kyphoscoliosis, Flat capital femoral epiphysis, Flared metaphysis, Dislocated radial ...	OMIM:612350
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Paget disease of bone, Abnormal pelvic girdle bone morphology, Elevated circulating creatine kina...	OMIM:167320
Severe Intellectual Disability And Progressive Spastic Paraplegia	Spastic dysarthria, Facial hypotonia, Genu recurvatum, Progressive spastic paraplegia, Spasticity...	ORPHA:280763
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Delayed puberty, Hypertriglyceridemia, Hepatocellular adenoma, Elevated circulating hepatic trans...	ORPHA:264580
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Postnatal growth retardation, Maturity-onset diabetes of the young, Hypercholesterolemia, Small f...	ORPHA:96184
Occipital Horn Syndrome	Large iliac wing, Cholestasis, Kyphosis, Absent tibia, Aplasia/hypoplasia of the humerus, Joint h...	ORPHA:198
Otospondylomegaepiphyseal Dysplasia	Sandal gap, Tibial bowing, Abnormally ossified vertebrae, Short metacarpal, Dumbbell-shaped femur...	ORPHA:1427
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Spasticity, Tremor, Osteoporosis, Generalized hypotonia	ORPHA:529665
Pachydermoperiostosis	Palmoplantar keratoderma, Abnormal cortical bone morphology, Hepatomegaly, Arthritis, Scoliosis, ...	ORPHA:2796
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
Ollier Disease	Abnormal metaphysis morphology, Micromelia, Joint stiffness, Precocious puberty, Abnormal cartila...	ORPHA:296
Dent Disease 1	Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Femoral bowi...	OMIM:300009
Megalencephalic Leukoencephalopathy With Subcortical Cysts 3	Lower limb spasticity, Spasticity, Upper limb spasticity, Dystonia, Rigidity	OMIM:620447
Magel2-Related Prader-Willi-Like Syndrome	Small pituitary gland, Increased body weight, Kyphosis, Hypogonadism, Hypothalamic luteinizing ho...	ORPHA:398069
Congenital Bile Acid Synthesis Defect Type 3	Cirrhosis, Jaundice, Hyperbilirubinemia, Cholestasis, Elevated circulating alanine aminotransfera...	ORPHA:79302
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Vertebral compression fracture, Small for gestational age, Angulated hume...	OMIM:616229
Congenital Myopathy 22A, Classic	Neonatal hypotonia, Spinal rigidity, Talipes, Scoliosis, Kyphosis, Osteoporosis, Congenital finge...	OMIM:620351
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Postnatal growth retardation, Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated c...	ORPHA:79240
Analbuminemia	Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor...	OMIM:616000
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hypogonadotropic hypogonadism, Clinodactyly, Osteoporosis	OMIM:614838
Hypocalcemic Vitamin D-Resistant Rickets	Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Abnormal form of the v...	ORPHA:93160
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Disproportionate short-limb short stature, Short long bone, Short ribs, Metaphyseal irregularity,...	OMIM:250420
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Decreased circulating plasmalogen concentration, Disproportionate short stature, Rhiz...	OMIM:222765
Familial Isolated Hyperparathyroidism	Osteopenia, Elevated circulating parathyroid hormone level, Primary hyperparathyroidism, Generali...	ORPHA:99879
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Pear-shaped vertebrae, Irregu...	OMIM:602111
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Kyphoscoliosis, Localized osteoporosis, Spasticity, Back pain, Rigidity, Cervical spondylosis	ORPHA:199354
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Kyphoscoliosis, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic ilia...	ORPHA:96334
Dystonia With Cerebellar Atrophy	Dystonia, Craniofacial dystonia, Torticollis	OMIM:611694
Mitochondrial Complex I Deficiency, Nuclear Type 16	Scoliosis, Spasticity, Failure to thrive, Dystonia, Generalized hypotonia, Intrauterine growth re...	OMIM:618238
Combined Oxidative Phosphorylation Deficiency 50	Short stature, Hip dysplasia, Generalized dystonia, Intrauterine growth retardation, Adrenal insu...	OMIM:619025
Allan-Herndon-Dudley Syndrome	Kyphoscoliosis, Neonatal hypotonia, Abnormality of thyroid physiology, Decreased body mass index,...	ORPHA:59
Werner Syndrome	Hypertriglyceridemia, Reduced bone mineral density, Osteoporosis, Elevated circulating alanine am...	OMIM:277700
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating osteocalcin level, Reduced bone mineral density, Hypophosphatemic rickets, ...	ORPHA:157215
Spastic Ataxia 1, Autosomal Dominant	Spastic paraplegia, Pes cavus, Dystonia, Leg muscle stiffness	OMIM:108600
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Periportal fib...	OMIM:619484
Smith-Mccort Dysplasia 1	Short metacarpal, Kyphosis, Iliac crest serration, Metaphyseal irregularity, Genu varum, Irregula...	OMIM:607326
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Kyphoscoliosis, Pathologic fracture, Vertebral compression fracture, Scoliosis, Tibia...	OMIM:259770
Gm1-Gangliosidosis, Type Iii	Pes cavus, Anterior beaking of lumbar vertebrae, Hepatomegaly, Hypoplastic acetabulae, Scoliosis,...	OMIM:230650
Robin Sequence With Cleft Mandible And Limb Anomalies	Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me...	OMIM:268305
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Kyphoscoliosis, Pes cavus, Spastic gait, Male hypogonadism, Facial hypotonia, Resting tremor, Sco...	OMIM:300055
Laron Syndrome	Short long bone, Delayed menarche, Limb undergrowth, Severe short stature, Decreased serum insuli...	OMIM:262500
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Progressive clavicular acroosteolysis, Decreased serum leptin, Osteolytic...	OMIM:614008
Orofaciodigital Syndrome Iv	Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Short stat...	OMIM:258860
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Osteoporosis, Elevated circulating phytanic acid concentration, Failure to thrive, ...	OMIM:266510
Arthrogryposis, Distal, Type 4	Osteopenia, Equinovarus deformity, Tibial deviation of toes, Torticollis, Camptodactyly of 2nd-5t...	OMIM:609128
Beta-Thalassemia Major	Delayed puberty, Cirrhosis, Genu valgum, Jaundice, Abnormality of iron homeostasis, Hepatomegaly,...	ORPHA:231214
Brachydactyly, Type B1	Joint contracture of the hand, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of ...	OMIM:113000
Kniest Dysplasia	Enlarged metaphyses, Short long bone, Dumbbell-shaped long bone, Joint stiffness, Dumbbell-shaped...	ORPHA:485
X Small Rings	Neonatal hypotonia, Reduced bone mineral density, Clinodactyly of the 5th finger, Upper limb unde...	ORPHA:96201
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:235555
Post-Traumatic Pituitary Deficiency	Osteopenia, Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone sti...	ORPHA:95619
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Short long bone, Flat acetabular roof, Short ribs, Dumbbell-shaped long bone, Hypoplastic ischia,...	OMIM:151210
Mednik Syndrome	Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin...	ORPHA:171851
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Postnatal growth retardation, Acromicria, Neonatal hypotonia, Short foot, Precocious puberty, Mic...	ORPHA:254525
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Disproportionate short-limb short stature, Anterior scalloping of vertebral bodies, Hypoplastic i...	OMIM:611717
Autosomal Recessive Spastic Paraplegia Type 56	Spastic gait, Spastic paraplegia, Dystonia	ORPHA:320411
Gallbladder Disease 1	Jaundice, Elevated circulating hepatic transaminase concentration, Cholangitis, Cholelithiasis, P...	OMIM:600803
Osteogenesis Imperfecta, Type Viii	Osteopenia, Vertebral compression fracture, Slender long bone, Femoral retroversion, Disproportio...	OMIM:610915
Cantú Syndrome	Abnormal metaphysis morphology, Deep plantar creases, Short hallux, Finger syndactyly, Osteoporos...	ORPHA:1517
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormal circulating calcium-phosphate regulating hormone concentration, Aplasia/hypoplasia of th...	ORPHA:2636
Orofaciodigital Syndrome Vi	Fibular aplasia, Radial deviation of finger, 11 pairs of ribs, Tibial bowing, Postaxial hand poly...	OMIM:277170
Roifman Syndrome	Postnatal growth retardation, Biconvex vertebral bodies, Clinodactyly of the 5th finger, Broad fe...	ORPHA:353298
Lopes-Maciel-Rodan Syndrome	Hypertonia, Scoliosis, Tremor, Spasticity, Kyphosis, Axial hypotonia, Dystonia, Ankle clonus, Sho...	OMIM:617435
Orofaciodigital Syndrome Ix	Camptodactyly, Short stature, Hand polydactyly, Toe syndactyly, Short tibia	OMIM:258865
Premature Aging Syndrome, Penttinen Type	Elevated circulating thyroid-stimulating hormone concentration, Slender long bone, Recurrent frac...	OMIM:601812
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d...	OMIM:166740
Dystonia 28, Childhood-Onset	Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial dystonia, Shor...	OMIM:617284
Short Chain Acyl-Coa Dehydrogenase Deficiency	Hypertonia, Ketotic hypoglycemia, Infantile muscular hypotonia, Failure to thrive, Dystonia, Intr...	ORPHA:26792
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Neuroendocrine neoplasm, Decreased circulating ACTH concentration, Macronodular adrenal hyperplas...	ORPHA:189427
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Limited elbow extension, Carpal bone hypoplasia, Small epiphyses, Scoliosis, Femoral ...	OMIM:616723
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Tremor, Dystonia	OMIM:614561
Idiopathic Hypercalciuria	Osteopenia, Osteoporosis	ORPHA:2197
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hyperlordosis, Short long bone, Metaphyseal irregularity, Joint hypermobility, Central adrenal in...	OMIM:616007
Schwartz-Jampel Syndrome	Spinal rigidity, Flexion contracture of toe, Cachexia, Hyperlordosis, Abnormally ossified vertebr...	ORPHA:800
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Disproportionate short-limb short stature, Hyperlordosis, Femoral bowing, Short long bone, Kyphos...	OMIM:618019
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Lower limb spasticity, Progressive spastic paraplegia, Scoliosis, Spasticity, Structural foot def...	ORPHA:464282
Neurodegeneration And Seizures Due To Copper Transport Defect	Limb hypertonia, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper co...	OMIM:620306
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Clinodactyly of the 5th finger, Joint contracture of the 5th finger, Impaired glucose tolerance, ...	OMIM:614407
Frank-Ter Haar Syndrome	Kyphoscoliosis, Short long bone, Kyphosis, Osteoporosis, Camptodactyly, Short palm, Short phalanx...	OMIM:249420
Gorham-Stout Disease	Osteopenia, Abnormal bone ossification, Abnormal femur morphology, Torticollis, Osteolysis involv...	ORPHA:73
Gollop-Wolfgang Complex	Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ...	ORPHA:1986
Intermediate Osteopetrosis	Sandwich appearance of vertebral bodies, Abnormality of bone mineral density, Recurrent fractures...	ORPHA:210110
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated circulating hepatic transaminase concentration, Spasticity, Cholestasis, Growth delay, H...	ORPHA:541423
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
Dystonia 1, Torsion, Autosomal Dominant	Hypertonia, Oromandibular dystonia, Writer's cramp, Torticollis, Torsion dystonia, Scoliosis, Hyp...	OMIM:128100
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Large for gestational age, Lambdoidal craniosynostosis, Scoli...	OMIM:615398
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, C...	ORPHA:432
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, W...	OMIM:617925
Epilepsy, Nocturnal Frontal Lobe, 4	Dystonia	OMIM:610353
Lathosterolosis	Bilobate gallbladder, Butterfly vertebrae, 2-4 toe cutaneous syndactyly, 2-3 toe cutaneous syndac...	OMIM:607330
Leukodystrophy, Hypomyelinating, 18	Scoliosis, Progressive spasticity, Spasticity, Failure to thrive, Dystonia, Flexion contracture, ...	OMIM:618404
Shox-Related Short Stature	Ulnar radial head dislocation, Genu valgum, Scoliosis, Tibial bowing, Forearm undergrowth, Short ...	ORPHA:314795
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Postnatal growth retardation, Prominent protruding coccyx, Tremor, Abnormal sacral segmentation, ...	ORPHA:480907
Thalidomide Embryopathy	Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han...	ORPHA:3312
Immunodeficiency 12	Clubbing, Decreased body weight, Osteoporosis, Short stature, Growth delay	OMIM:615468
Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Subluxation of the small joints of the hand, Abnormal femoral head morphology, Ab...	ORPHA:536471
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Postnatal growth retardation, Hepatic hemangioma, Abnormal bone ossification, Hepatomegaly, Gener...	ORPHA:73230
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Short finger, Cone-shaped epiphyses of the middle phalanges of the hand, Short metata...	OMIM:190351
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	Spasticity, Dystonia, Rigidity	OMIM:620448
Developmental And Epileptic Encephalopathy 7	Dystonia, Spastic tetraparesis, Hypotonia	OMIM:613720
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Unicoronal sy...	OMIM:616300
Amish Lethal Microcephaly	Hepatomegaly, Limb hypertonia, Limitation of joint mobility, Decreased skull ossification, Osteop...	ORPHA:99742
Gnathodiaphyseal Dysplasia	Osteopenia, Diaphyseal cortical sclerosis, Bowing of the long bones, Osteomyelitis, Increased sus...	OMIM:166260
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia	Dystonia, Generalized hypotonia	OMIM:616763
Macs Syndrome	Scoliosis, Decreased body weight, Osteoporosis, Hypergonadotropic hypogonadism, Short stature, Mi...	OMIM:613075
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures	OMIM:612287
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2	Rigidity, Dystonia	OMIM:619661
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum	Spastic paraplegia, Dystonia	OMIM:615030
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Kyphoscoliosis, Vertebral compression fracture, Talipes equinovarus, Hyperextensibility of the fi...	OMIM:309583
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Portal fibrosis, Hypertyrosinemia,...	OMIM:605814
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Prolonged neonatal...	OMIM:210710
Diamond-Blackfan Anemia 7	Osteopenia, Triphalangeal thumb, Scoliosis, Osteoporosis, Growth delay, Short thumb, Intrauterine...	OMIM:612562
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Delayed puberty, Absence of secondary sex characteristics, Triphalangeal thumb, Small...	ORPHA:2232
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Axial hypotonia, Failure to thrive, Tremor, Dystonia	OMIM:619651
Dystonia 23	Torticollis, Writer's cramp, Axial dystonia, Limb dystonia, Head tremor	OMIM:614860
Celiac Disease, Susceptibility To, 1	Rickets, Postnatal growth retardation, Delayed puberty, Elevated circulating hepatic transaminase...	OMIM:212750
Partington Syndrome	Lower limb spasticity, Limb dystonia, Camptodactyly, Focal dystonia, Flexion contracture	OMIM:309510
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Polydactyly, Hypertonia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, M...	ORPHA:17
Farber Disease	Short finger, Abnormal foot morphology, Elevated circulating hepatic transaminase concentration, ...	ORPHA:333
Fanconi-Bickel Syndrome	Rickets, Osteopenia, Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Increased hepatic ...	ORPHA:2088
Zinc Deficiency, Transient Neonatal	Decreased serum zinc	OMIM:608118
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Triphalangeal thumb, Abnormal metacarpal morphology,...	ORPHA:2378
Tenosynovial Giant Cell Tumor	Localized osteoporosis, Abnormal shoulder morphology, Limitation of joint mobility, Abnormality o...	ORPHA:66627
Dystonia 35, Childhood-Onset	Dystonia	OMIM:619921
Dystonia 28	Oromandibular dystonia, Clinodactyly of the 5th finger, Generalized dystonia, Torticollis, Leg dy...	ORPHA:589618
Autosomal Recessive Spastic Paraplegia Type 53	Limb dystonia, Kyphosis, Failure to thrive, Joint hypermobility, Upper limb hypertonia	ORPHA:319199
Richieri Costa-Da Silva Syndrome	Kyphoscoliosis, Beaking of vertebral bodies, Distal lower limb muscle weakness, Genu valgum, Gene...	ORPHA:3101
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Kyphoscoliosis, Increased susceptibility to fractures, Talipes equinovarus, Flared me...	OMIM:615349
Brachydactyly, Type A1, C	Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge...	OMIM:615072
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Scoliosis, Short long bone, Fem...	OMIM:613091
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l...	OMIM:300106
Eiken Syndrome	Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a...	OMIM:600002
Anemia, Hypochromic Microcytic, With Iron Overload 1	Elevated hepatic iron concentration, Increased circulating iron concentration	OMIM:206100
Autosomal Dominant Spastic Ataxia Type 1	Spastic gait, Pes cavus, Hypertonia, Spastic dysarthria, Lower limb spasticity, Tremor, Leg muscl...	ORPHA:251282
Hypermanganesemia With Dystonia 2	Oromandibular dystonia, Generalized dystonia, Scissor gait, Scoliosis, Tremor, Spasticity, Elevat...	OMIM:617013
Brittle Cornea Syndrome	Neonatal hypotonia, Joint hypermobility, Scoliosis, Camptodactyly, Osteoporosis, Arachnodactyly, ...	ORPHA:90354
Werner Syndrome	Rocker bottom foot, Thyroid carcinoma, Increased bone mineral density, Osteoporosis, Joint stiffn...	ORPHA:902
Microcephalic Primordial Dwarfism, Montreal Type	Hypertonia, Reduced bone mineral density, Scoliosis, Vertebral segmentation defect, Kyphosis, Mic...	ORPHA:2617
Striatonigral Degeneration, Infantile	Failure to thrive, Spasticity, Dystonia, Choreoathetosis	OMIM:271930
Hajdu-Cheney Syndrome	Osteopenia, Kyphoscoliosis, Genu valgum, Osteolytic defects of the phalanges of the hand, Fibular...	OMIM:102500
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures	OMIM:612286
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Kyphoscoliosis, Clinodactyly of the 5th finger, Talipes, Cone-shaped epiphyses of the phalanges o...	OMIM:210730
Functioning Gonadotropic Adenoma	Osteopenia, Delayed puberty, Decreased response to growth hormone stimulation test, Central diabe...	ORPHA:91348
Hajdu-Cheney Syndrome	Delayed puberty, Partial absence of toe, Decreased skull ossification, Kyphosis, Biconcave verteb...	ORPHA:955
Premature Aging Syndrome, Okamoto Type	Diabetes mellitus, Osteoporosis	OMIM:601811
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Failure to thrive, Spasticity, Dystonia, Hypotonia	OMIM:618276
Fibrous Dysplasia Of Bone	Abnormal femur morphology, Precocious puberty in females, Abnormality of the endocrine system, Hy...	ORPHA:249
Leukodystrophy, Hypomyelinating, 14	Growth delay, Spasticity, Dystonia, Generalized hypotonia	OMIM:617899
Linear Verrucous Nevus Syndrome	Reduced bone mineral density, Talipes, Genu recurvatum, Scoliosis, Short metacarpal, Hypophosphat...	ORPHA:2611
Osteogenesis Imperfecta, Type Xi	Osteopenia, Kyphoscoliosis, Vertebral compression fracture, Vertebral wedging, Scoliosis, Coxa va...	OMIM:610968
Femoral-Facial Syndrome	Aplasia/hypoplasia of the femur, Limited elbow movement, Short humerus, Absent vertebra, Syndacty...	OMIM:134780
Greenberg Dysplasia	Disproportionate short-limb short stature, Short long bone, Short ribs, Decreased skull ossificat...	OMIM:215140
Omodysplasia 1	Limited elbow extension, Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Limited ...	OMIM:258315
Caffey Disease	Subperiosteal bone formation, Tibial bowing, Calvarial hyperostosis, Cortical irregularity, Perio...	OMIM:114000
Spondylometaphyseal Dysplasia, Algerian Type	Kyphoscoliosis, Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysi...	OMIM:184253
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Short stature, Osteoporosis	OMIM:620532
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Scoliosis, Tremor, Delayed menarche, Dystonia	ORPHA:330050
Bruck Syndrome 2	Osteopenia, Femoral bowing, Elbow flexion contracture, Short stature, Flexion contracture, Knee f...	OMIM:609220
Developmental And Epileptic Encephalopathy 69	Congenital contracture, Axial hypotonia, Dystonia, Spastic tetraplegia, Arthrogryposis multiplex ...	OMIM:618285
Perrault Syndrome 4	Hypoplasia of the ovary, Osteoporosis, Obesity, Decreased serum estradiol, Increased circulating ...	OMIM:615300
Dystonia 31	Leg dystonia, Writer's cramp, Craniofacial dystonia, Arm dystonia, Generalized dystonia	OMIM:619565
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Femoral bowing, Tibial bowing, Short long bone, Short metacarpal, J...	OMIM:608940
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Short tubular bones of the hand, Osteopenia, Abnormal foot morphology, Abnormal diaphysis morphol...	ORPHA:85184
Acromesomelic Dysplasia 3	Radial deviation of finger, Disproportionate short-limb short stature, Aplasia of the proximal ph...	OMIM:609441
Alg3-Cdg	Osteopenia, Decreased liver function, Hypertonia, Abnormality of the endocrine system, Spastic te...	ORPHA:79321
Mucopolysaccharidosis Type 4	Abnormal metaphysis morphology, Reduced bone mineral density, Genu valgum, Joint hypermobility, S...	ORPHA:582
Foxg1 Syndrome	Kyphoscoliosis, Severe postnatal growth retardation, Scoliosis, Spasticity, Decreased body weight...	ORPHA:561854
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Short st...	ORPHA:988
Paroxysmal Non-Kinesigenic Dyskinesia	Torticollis, Joint stiffness, Rigidity, Dystonia, Choreoathetosis	ORPHA:98810
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Equinovarus deformity, Aplasia/Hypoplasia of metatarsal bones, Disproportionate short-limb short ...	ORPHA:2502
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Hypoplastic sacrum, Rhizomelia, Short metatarsal, Small for gestational age, Short me...	OMIM:614813
Hypophosphatemic Bone Disease	Rickets, Short stature, Hypophosphatemia, Osteomalacia, Bowing of the legs	OMIM:146350
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Beaking of vertebral bodies, Large tarsal bones, Flared metaphysis, Short long bone, Aplasia/Hypo...	OMIM:215150
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alkaline phosph...	OMIM:613812
Multiple Osteochondromas	Abnormal femur morphology, Limitation of knee mobility, Deformed forearm bones, Abnormal lower li...	ORPHA:321
46,Xx Gonadal Dysgenesis	Osteopenia, Delayed puberty, Reduced bone mineral density, Osteoporosis of vertebrae, Short statu...	ORPHA:243
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Broad foot, Patellar ap...	OMIM:135750
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypocalcemic...	OMIM:241410
Baralle-Macken Syndrome	Neonatal hypotonia, Spasticity, Kyphosis, Obesity, Dystonia, Pes planus, Tapered finger	OMIM:619255
X-Linked Hypophosphatemia	Reduced bone mineral density, Flared iliac wing, Hypophosphatemia, Abnormal epiphysis morphology,...	ORPHA:89936
Refractory Celiac Disease	Elevated circulating hepatic transaminase concentration, Hypocalcemia, Hypoproteinemia, Osteoporo...	ORPHA:398063
Congenital Disorder Of Glycosylation, Type Iig	Kyphoscoliosis, Short long bone, Broad femoral neck, Intrauterine growth retardation, Butterfly v...	OMIM:611209
Cleidocranial Dysplasia 2	Osteopenia, Genu valgum, Delayed pubic bone ossification, Short clavicles, Delayed ossification o...	OMIM:620099
Baker-Gordon Syndrome	Neonatal hypotonia, Abnormal foot morphology, Scoliosis, Dystonia, Joint hypermobility, Choreoath...	OMIM:618218
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Osteopenia, Spasticity, Portal hypertension, Growth delay, Dystonia, Intrauterine growth retardat...	OMIM:617341
Osteogenesis Imperfecta, Type Ii	Absent ossification of calvaria, Crumpled long bones, Disproportionate short-limb short stature, ...	OMIM:166210
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Clinodactyly of the 5th finger, Hypoparathyroidism, Clubbing of fingers, Metaphyseal ...	OMIM:156400
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone...	ORPHA:3035
Stuve-Wiedemann Syndrome 2	Scoliosis, Short long bone, Bowing of the long bones, Camptodactyly, Intrauterine growth retardation	OMIM:619751
Developmental And Epileptic Encephalopathy 53	Spastic tetraplegia, Dystonia, Elevated circulating creatine kinase concentration, Hypotonia	OMIM:617389
Microphthalmia With Limb Anomalies	Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hypoplasia, Sacral...	OMIM:206920
Pde4D Haploinsufficiency Syndrome	Short metacarpal, Broad metatarsal, Joint hypermobility, Intrauterine growth retardation, Cone-sh...	ORPHA:439822
Schneckenbecken Dysplasia	Disproportionate short-limb short stature, Snail-like ilia, Short long bone, Flat acetabular roof...	OMIM:269250
Stxbp1-Related Encephalopathy	Spasticity, Tremor, Dystonia, Hypotonia, Spastic tetraplegia	ORPHA:599373
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed puberty, Cholestatic liver disease, Reduced bone mineral density, Elevated circulating he...	ORPHA:99413
Mosaic Monosomy X	Delayed puberty, Cholestatic liver disease, Reduced bone mineral density, Elevated circulating he...	ORPHA:99228
Monosomy X	Delayed puberty, Cholestatic liver disease, Reduced bone mineral density, Elevated circulating he...	ORPHA:99226
Turner Syndrome	Delayed puberty, Cholestatic liver disease, Reduced bone mineral density, Elevated circulating he...	ORPHA:881
Catel-Manzke Syndrome	Postnatal growth retardation, Adducted thumb, Genu valgum, Clinodactyly of the 5th finger, Scolio...	OMIM:616145
Spinocerebellar Ataxia, Autosomal Recessive 4	Pes cavus, Torticollis, Spasticity, Tremor, Axial hypotonia, Dystonia	OMIM:607317
Myoclonus-Dystonia Syndrome	Dystonia, Torticollis, Writer's cramp	ORPHA:36899
Three M Syndrome 1	Postnatal growth retardation, Increased vertebral height, Clinodactyly of the 5th finger, Spina b...	OMIM:273750
Atypical Rett Syndrome	Pill-rolling tremor, Neonatal hypotonia, Scoliosis, Tremor, Spasticity, Kyphosis, Growth delay, D...	ORPHA:3095
Glycogen Storage Disease Ia	Delayed puberty, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancreati...	OMIM:232200
Gm1 Gangliosidosis	Abnormal form of the vertebral bodies, Decerebrate rigidity, Hyperlordosis, Kyphosis, Joint stiff...	ORPHA:354
Wilson Disease	Portal fibrosis, Limb dystonia, Rigidity, Acute hepatic failure, Splenomegaly, High nonceruloplas...	OMIM:277900
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Postnatal growth retardation, Reduced bone mineral density, Hepatomegaly, Joint stiffness, Short ...	OMIM:620210
Mucolipidosis Type Iii Alpha/Beta	Kyphoscoliosis, Postnatal growth retardation, Generalized osteoporosis, Joint stiffness, Short st...	ORPHA:423461
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Delayed puberty, Bicoronal synostosis, Scoliosis, Kyphosis, Osteoporosis, Joint hyper...	OMIM:619718
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Osteoporosis	ORPHA:98848
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Delayed puberty, Hyperkalemia, Absence of secondary sex characteristics, Reduced bone mineral den...	ORPHA:289548
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Axial hypotonia, Tremor, Hypothyroidism, Dystonia	OMIM:619647
Wiedemann-Rautenstrauch Syndrome	Kyphoscoliosis, Hypertriglyceridemia, Severe intrauterine growth retardation, Atlantoaxial abnorm...	ORPHA:3455
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Delayed puberty, Hyperkalemia, Absence of secondary sex characteristics, Reduced bone mineral den...	ORPHA:168558
Atypical Werner Syndrome	Rocker bottom foot, Delayed puberty, Hypertriglyceridemia, Reduced bone mineral density, Calf mus...	ORPHA:79474
Polyendocrine-Polyneuropathy Syndrome	Postnatal growth retardation, Pes cavus, Decreased circulating follicle stimulating hormone conce...	ORPHA:453533
Campomelic Dysplasia	Fibular hypoplasia, Poorly ossified cervical vertebrae, 11 pairs of ribs, Tracheomalacia, Tracheo...	ORPHA:140
Seizures-Scoliosis-Macrocephaly Syndrome	Overlapping toe, Scoliosis, Reduced bone mineral density, Hypotonia	ORPHA:466926
Mitochondrial Complex I Deficiency, Nuclear Type 8	Kyphoscoliosis, Stiff neck, Pancreatitis, Axial dystonia, Dystonia, Generalized hypotonia	OMIM:618230
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Genu valgum, Hepatomegaly, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, P...	OMIM:615630
Nasu-Hakola Disease	Reduced bone mineral density, Bone cyst, Spasticity, Limitation of joint mobility, Abnormal epiph...	ORPHA:2770
Occipital Horn Syndrome	Limited elbow extension, Genu valgum, Decreased circulating ceruloplasmin concentration, Decrease...	OMIM:304150
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Narrow greater sciatic notch, Equinovarus deformity, Adducted thumb, Neonatal short-limb short st...	OMIM:224400
Osteogenesis Imperfecta	Reduced bone mineral density, Abnormal femur morphology, Abnormal hip bone morphology, Abnormal f...	ORPHA:666
Intellectual Developmental Disorder, Autosomal Dominant 53	Genu valgum, Growth delay, Hypotonia, Joint hypermobility, Short femur, Infantile axial hypotonia	OMIM:617798
Mitochondrial Complex I Deficiency, Nuclear Type 17	Scoliosis, Rigidity, Dystonia, Hypotonia, Generalized dystonia, Pes planus	OMIM:618239
Primary Dystonia, Dyt21 Type	Torticollis, Paroxysmal dystonia, Axial dystonia, Blepharospasm, Limb dystonia, Focal dystonia, D...	ORPHA:306734
Osteogenesis Imperfecta, Type Iv	Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Scoliosis...	OMIM:166220
Hutchinson-Gilford Progeria Syndrome	Generalized osteoporosis, Micrognathia, Osteolysis, Growth delay	OMIM:176670
Encephalopathy Due To Prosaposin Deficiency	Dystonia, Splenomegaly, Hypotonia, Hepatomegaly	ORPHA:139406
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Spastic paraplegia, Lower limb hypertonia, Dystonia, Joint hypermobility, Upper limb hy...	OMIM:614898
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Kyphoscoliosis, Disproportionate short-limb short stature, Delayed ossification of carpal bones, ...	OMIM:271510
Acrocephalopolydactyly	Genu recurvatum, Short long bone, Limb undergrowth, Hepatosplenomegaly, Brachydactyly, Short neck	ORPHA:221054
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Elbow flexion contracture, Athetosis, Osteoporosis, Flexion contracture, Intrauterine...	OMIM:614438
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone...	OMIM:250220
Neu-Laxova Syndrome	Rickets, Osteopenia, Scoliosis, Osteoporosis, Micromelia, Micrognathia, Large hands, Broad foot, ...	ORPHA:2671
Atelosteogenesis, Type Iii	Widened distal phalanges, Tombstone-shaped proximal phalanges, Cervical segmentation defect, Sand...	OMIM:108721
Amyotrophic Lateral Sclerosis 2, Juvenile	Spastic gait, Hypertonia, Spastic dysarthria, Lower limb spasticity, Retrocollis, Scoliosis, Spas...	OMIM:205100
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Hypoplastic iliac wing, Tibial bowing, Intrauterine growth retardation, Short distal phalanx of f...	OMIM:210720
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormal circulating lipid concentration, Reduced bone mineral density, Cachexia, Abnormality of ...	ORPHA:1979
Aicardi-Goutieres Syndrome 3	Elevated circulating hepatic transaminase concentration, Spasticity, Dystonia, Hepatosplenomegaly...	OMIM:610329
Pseudohypoparathyroidism Type 1A	Reduced bone mineral density, Short metacarpal, Short 4th metacarpal, Decreased response to growt...	ORPHA:79443
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra...	ORPHA:85170
Adrenomyodystrophy	Reduced bone mineral density, Short stature, Failure to thrive, Primary adrenal insufficiency, Hy...	ORPHA:977
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy	Dystonia	OMIM:619196
Senior-Loken Syndrome 9	Osteopenia, Polydactyly, Cholestasis, Hypoplasia of the femoral head, Obesity, Hypogonadism, Hepa...	OMIM:616629
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia, Impaired glucose tolerance, Joint stiffness, Short distal phalanx of finger, Coxa...	OMIM:248370
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Generalized joint hypermobility, Hip subluxation, Neonatal hypotonia, Congenital bila...	ORPHA:1900
Aggressive Systemic Mastocytosis	Decreased liver function, Osteoporosis, Portal hypertension, Hepatosplenomegaly, Weight loss, Pat...	ORPHA:98850
Cooper-Jabs Syndrome	Reduced bone mineral density, Proximal placement of thumb, Abnormal hip bone morphology, Scoliosi...	ORPHA:1488
Ataxia-Oculomotor Apraxia Type 4	Kyphoscoliosis, Pes cavus, Distal lower limb muscle weakness, Obesity, Dystonia, Abnormal toe mor...	ORPHA:459033
Sponastrime Dysplasia	Kyphoscoliosis, Disproportionate short-limb short stature, Short long bone, Biconcave vertebral b...	ORPHA:93357
Craniofaciofrontodigital Syndrome	Osteopenia, Large for gestational age, Scoliosis, Osteoporosis, Short stature, Large hands, Hypot...	ORPHA:363705
Cardiofaciocutaneous Syndrome 3	Reduced bone mineral density, Scoliosis, Short stature, Failure to thrive, Hypotonia, Short neck	OMIM:615279
Hyperphenylalaninemia, Bh4-Deficient, C	Hypertonia, Tremor, Hyperphenylalaninemia, Dystonia, Hypotonia, Choreoathetosis	OMIM:261630
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Spastic tetraplegia, Dystonia, Infantile muscular hypotonia	ORPHA:263410
Saul-Wilson Syndrome	Postnatal growth retardation, Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the...	OMIM:618150
Spinocerebellar Ataxia, Autosomal Recessive 31	Pes cavus, Clinodactyly of the 5th finger, Tremor, Growth delay, Axial hypotonia, Dystonia, Lumba...	OMIM:619422
Hemiparkinsonism-Hemiatrophy Syndrome	Scoliosis, Tremor, Hemiatrophy, Dystonia, Generalized hypotonia	ORPHA:306669
Craniometadiaphyseal Dysplasia	Osteopenia, Genu valgum, Flared metaphysis, Wide anterior fontanel, Scoliosis, Short stature, Cox...	OMIM:269300
Wieacker-Wolff Syndrome	Proximal placement of thumb, Congenital foot contractures, Scoliosis, Hyperlordosis, Spasticity, ...	OMIM:314580
Difference Of Sex Development-Intellectual Disability Syndrome	Genu valgum, Reduced bone mineral density, Spina bifida occulta, Kyphosis, Hypogonadism, Short neck	ORPHA:2983
Spastic Paraplegia 26, Autosomal Recessive	Spastic gait, Pes cavus, Lower limb spasticity, Scoliosis, Spastic paraplegia, Upper limb spastic...	OMIM:609195
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Hypotriglyceridemia, Short long bone, Short metacarpal, Severe shor...	ORPHA:85167
Dystonia 15, Myoclonic	Dystonia, Writer's cramp	OMIM:607488
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Osteopenia, Dystonia, Hypotonia, Generalized hypotonia	OMIM:617268
Dystonia-Deafness Syndrome 1	Kyphoscoliosis, Leg dystonia, Oculogyric crisis, Femoral retroversion, Generalized dystonia, Hypo...	OMIM:607371
Porphyria Cutanea Tarda	Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Periportal...	ORPHA:101330
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Spastic hemiparesis, Scoliosis, Spasticity, Micrognathia, Dystonia, Hypotonia, Spastic tetraplegia	OMIM:619616
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Disproportionate short-limb short stature, Triangular shaped distal phalanges of the hand, Short ...	OMIM:271665
Dysosteosclerosis	Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Absent paranasal sinuses, Clavicula...	OMIM:224300
Free Sialic Acid Storage Disease	Reduced bone mineral density, Abnormal foot morphology, Hepatomegaly, Spasticity, Athetosis, Sple...	ORPHA:834
Filippi Syndrome	Postnatal growth retardation, Finger clinodactyly, Decreased body weight, Dystonia, 2-4 toe synda...	OMIM:272440
Aromatic L-Amino Acid Decarboxylase Deficiency	Oculogyric crisis, Limb hypertonia, Tremor, Hypoglycemia, Short stature, Failure to thrive, Joint...	ORPHA:35708
Cranioectodermal Dysplasia 1	Radial deviation of finger, Short ribs, Short humerus, Short distal phalanx of finger, Joint hype...	OMIM:218330
Tbck-Related Intellectual Disability Syndrome	Abnormal circulating lipid concentration, Broad finger, Neonatal hypotonia, Severe muscular hypot...	ORPHA:488632
Developmental And Epileptic Encephalopathy 44	Spasticity, Athetosis, Short stature, Failure to thrive, Axial hypotonia, Dystonia	OMIM:617132
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Postnatal growth retardation, Short first metatarsal, Ulnar bowing, Epiph...	OMIM:619135
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole...	ORPHA:567983
Spinocerebellar Ataxia-Dysmorphism Syndrome	Reduced bone mineral density, Spina bifida occulta, Slender long bone, Genu recurvatum, Short sta...	ORPHA:1185
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, S...	OMIM:619269
Episodic Kinesigenic Dyskinesia 3	Dystonia, Torticollis, Choreoathetosis	OMIM:620245
Mucolipidosis Ii Alpha/Beta	Short long bone, Flat acetabular roof, Flared iliac wing, Splenomegaly, Bullet-shaped phalanges o...	OMIM:252500
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Fibular hypoplasia, Disproportionate short stature, Abnormal tibia morpho...	ORPHA:2634
Raynaud-Claes Syndrome	Lower limb spasticity, Scoliosis, Dystonia, Hypotonia, Generalized hypotonia	OMIM:300114
Neurodegeneration With Brain Iron Accumulation 7	Pes cavus, Increased circulating very long-chain fatty acid concentration, Lower limb spasticity,...	OMIM:617916
Rothmund-Thomson Syndrome, Type 2	Kyphoscoliosis, Annular pancreas, Osteoporosis, Congenital hip dislocation, Short stature, Short ...	OMIM:268400
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Joint hypermobility, Short 5th finger, Long toe, Intrauterine growth retardat...	ORPHA:508488
Spinocerebellar Ataxia Type 28	Spasticity, Limb dystonia, Head tremor, Rigidity, Dystonia, Kinetic tremor	ORPHA:101109
Autosomal Recessive Spastic Paraplegia Type 26	Pes cavus, Lower limb spasticity, Scoliosis, Dystonia, Decreased serum testosterone concentration	ORPHA:101006
Lowry-Maclean Syndrome	Osteopenia, Abnormality of the abdominal organs, Osteoporosis, Growth delay, Micrognathia, Intrau...	ORPHA:2409
Wolf-Hirschhorn Syndrome	Abnormality of the gallbladder, Hypoplastic pubic ramus, Abnormal form of the vertebral bodies, K...	ORPHA:280
Leukodystrophy, Hypomyelinating, 21	Athetosis, Growth delay, Failure to thrive, Dystonia, Hypogonadotropic hypogonadism	OMIM:619310
Peroxisomal Acyl-Coa Oxidase Deficiency	Neonatal hypotonia, Hypertonia, Hepatomegaly, Elevated circulating hepatic transaminase concentra...	OMIM:264470
Oncogenic Osteomalacia	Abnormal fibula morphology, Abnormal vertebral morphology, Abnormal femur morphology, Abnormal fo...	ORPHA:352540
Osteopetrosis, Autosomal Recessive 9	Postnatal growth retardation, Hyperkalemia, Osteopetrosis, Increased bone mineral density, Cortic...	OMIM:620366
Parkinson Disease 15, Autosomal Recessive Early-Onset	Scissor gait, Lower limb spasticity, Tremor, Rigidity, Dystonia, Talipes equinovarus	OMIM:260300
Czech Dysplasia	Intervertebral space narrowing, Flat capital femoral epiphysis, Short metatarsal, Scoliosis, Thor...	OMIM:609162
Autosomal Dominant Progressive External Ophthalmoplegia	Hypertonia, Elevated circulating hepatic transaminase concentration, Glucose intolerance, Resting...	ORPHA:254892
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Osteolytic defects of the phalanges of the hand, Arthritis, Clubbing, Limitation of j...	OMIM:259100
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Axial hypotonia, Tremor, Torticollis, Dystonia	OMIM:618425
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Cholangitis, S...	ORPHA:69663
Thanatophoric Dysplasia, Type I	Metaphyseal irregularity, Disproportionate short-limb short stature, Short greater sciatic notch,...	OMIM:187600
Cartilage-Hair Hypoplasia	Abnormal bone ossification, Biconvex vertebral bodies, Abnormal hip bone morphology, Disproportio...	ORPHA:175
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Elevated hepatic iron concentration, Splenomegaly, Elevated transferrin saturation,...	OMIM:615234
Acromesomelic Dysplasia 2B	Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ...	OMIM:228900
Gillessen-Kaesbach-Nishimura Syndrome	Narrow greater sciatic notch, Periportal fibrosis, Wide anterior fontanel, Short long bone, Decre...	OMIM:263210
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Hepatomegaly, Spondylolisthesis, Scoliosis, Short long bone, Split hand, ...	OMIM:252600
Primary Dystonia, Dyt6 Type	Torticollis, Lingual dystonia, Craniofacial dystonia, Blepharospasm, Limb dystonia, Dystonia, Gen...	ORPHA:98806
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Spasticity, Tremor, Dystonia	OMIM:615924
Cerebrotendinous Xanthomatosis	Osteopenia, Pes cavus, Increased susceptibility to fractures, Abnormal femur morphology, Abnormal...	ORPHA:909
Campomelic Dysplasia	Kyphoscoliosis, Disproportionate short-limb short stature, Absent sternal ossification, Dislocate...	OMIM:114290
Cole-Carpenter Syndrome 2	Osteopenia, Postnatal growth retardation, Lambdoidal craniosynostosis, Narrow iliac wing, Kyphosi...	OMIM:616294
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Short stature, Failure to thrive in infancy, Dystonia, Spastic diplegia	OMIM:619065
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o...	OMIM:227270
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Cholestasis, Acute hepatic failure, Sple...	ORPHA:171
Myoclonus, Familial, 2	Dystonia	OMIM:618364
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Abnormal form of the vertebral bodies, Dislocated radial head, H...	ORPHA:2839
Thrombocytopenia-Absent Radius Syndrome	Fibular aplasia, Fused cervical vertebrae, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of ...	ORPHA:3320
Congenital Disorder Of Deglycosylation 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Facial hypotonia, Scoliosi...	OMIM:615273
Juvenile Amyotrophic Lateral Sclerosis	Hypertonia, Oromandibular dystonia, Lower limb spasticity, Axial dystonia, Lower-limb joint contr...	ORPHA:300605
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Kyphoscoliosis, Short stature, Failure to thrive, Hypothyroidism, Joint contracture, ...	OMIM:618005
Pelizaeus-Merzbacher Disease	Cachexia, Scoliosis, Spasticity, Kyphosis, Joint stiffness, Short stature, Dystonia, Hypotonia, F...	ORPHA:702
Dent Disease	Rickets, Delayed epiphyseal ossification, Enlargement of the ankles, Abnormality of the lower lim...	ORPHA:1652
Menkes Disease	Abnormal metaphysis morphology, Hypertonia, Tarsal synostosis, Spasticity, Bowing of the long bon...	ORPHA:565
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Tremor, Short stature, Failure to thrive, Splenomegaly, Hypogonadism, Decreased ser...	OMIM:201100
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy	Scoliosis, Dystonia, Spastic dysarthria, Spasticity	ORPHA:314603
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Limb hypertonia, Tremor, Growth delay, Axial hypotonia, Rigidity, Dystonia, Sm...	ORPHA:70594
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Post...	OMIM:263520
Dystonia 22, Juvenile-Onset	Oromandibular dystonia, Torticollis, Lower limb spasticity, Intention tremor, Generalized dystoni...	OMIM:620453
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ...	OMIM:119100
Intellectual Developmental Disorder, X-Linked 111	Kyphoscoliosis, Spasticity, Dystonia	OMIM:301107
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Kyphoscoliosis, Neonatal hypotonia, Abnormal foot morphology, Congenital kyphoscolios...	ORPHA:536545
Xylt1-Cdg	Hepatomegaly, Flared metaphysis, Short clavicles, Short long bone, Broad thumb, Short stature, Gr...	ORPHA:370930
Glycogen Storage Disease Ib	Delayed puberty, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancreati...	OMIM:232220
Orofaciodigital Syndrome Type 2	Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact...	ORPHA:2751
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Oculogyric crisis, Scoliosis, Spasticity, Dystonia, Hypotonia, Severe muscular hypotonia	OMIM:614254
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Osteopenia, Talipes valgus, Clinodactyly of the 5th finger, Clubbing of fingers, Scoliosis, Short...	OMIM:620083
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Spasticity, Dystonia, Hypotonia	OMIM:617820
Combined Oxidative Phosphorylation Defect Type 13	Ankle flexion contracture, Limb dystonia, Axial hypotonia, Failure to thrive, Hip contracture, Lo...	ORPHA:319514
Achondrogenesis, Type Ii	Short tubular bones of the hand, Abnormal foot morphology, Disproportionate short-limb short stat...	OMIM:200610
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Polydactyly, Scoliosis, Short long bone, Short stature, Brachydactyly, Hepatic cysts	OMIM:613819
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Genu valgum, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Scoliosis, Ky...	ORPHA:394
Combined Malonic And Methylmalonic Acidemia	Methylmalonic acidemia, Elevated circulating hepatic transaminase concentration, Axial hypotonia,...	ORPHA:289504
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Butterfly vertebrae, Hypoplasia of the radius, Finger syndactyly, Scolios...	ORPHA:958
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Reduced bone mineral density, Tremor, Large knee, Spastic paraplegia, Metaphyseal chondrodysplasia	ORPHA:83629
Leukoencephalopathy With Dystonia And Motor Neuropathy	Torticollis, Head tremor, Intention tremor, Hypergonadotropic hypogonadism, Dystonia, Elevated ci...	OMIM:613724
Neurodegeneration With Brain Iron Accumulation 6	Pes cavus, Oromandibular dystonia, Areflexia of lower limbs, Rigidity, Dystonia, Spastic tetraple...	OMIM:615643
Dyskeratosis Congenita	Cirrhosis, Neoplasm of the pancreas, Hepatomegaly, Scoliosis, Intrauterine growth retardation, Os...	ORPHA:1775
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ...	OMIM:211600
Combined Oxidative Phosphorylation Deficiency 10	Spasticity, Hyperalaninemia, Failure to thrive, Hyperammonemia, Dystonia, Hypotonia, Intrauterine...	OMIM:614702
Marshall-Smith Syndrome	Reduced bone mineral density, Slender long bone, Scoliosis, Bowing of the long bones, Failure to ...	ORPHA:561
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Tremor, Rigidity, Dystonia, Splenomegaly, Intrauterine growth retardation	OMIM:615010
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Delayed puberty, Absence of secondary sex characteristics, Reduced bone mineral density, Abnormal...	ORPHA:90796
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Short humerus, Intrauterine growth retardation, Long toe, Clinodactyly, Gen...	OMIM:264090
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hypertonia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Trac...	OMIM:203700
Dyskeratosis Congenita, Autosomal Dominant 2	Osteoporosis, Short stature, Failure to thrive, Palmoplantar hyperkeratosis, Hepatic fibrosis	OMIM:613989
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Delayed puberty, Hypertriglyceridemia, Hepatocellular adenoma, Hyperlipidemia, Hepatic steatosis,...	ORPHA:79259
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Axial hypotonia, Spasticity, Dystonia, Choreoathetosis	OMIM:614249
Developmental And Epileptic Encephalopathy 29	Rocker bottom foot, Spasticity, Blepharospasm, Limb dystonia, Short stature, Failure to thrive, A...	OMIM:616339
Prolactinoma	Osteopenia, Delayed puberty, Decreased circulating ACTH concentration, Anterior hypopituitarism, ...	ORPHA:2965
Pyruvate Dehydrogenase Deficiency	Osteolytic defects of the middle phalanx of the 4th toe, Spasticity, Tremor, Growth delay, Dyston...	ORPHA:765
Glass Syndrome	Anterior tibial bowing, Facial hypotonia, Camptodactyly, Generalized osteoporosis, Arachnodactyly...	OMIM:612313
Polyendocrine-Polyneuropathy Syndrome	Postnatal growth retardation, Anterior pituitary hypoplasia, Hypoglycemia, Short stature, Central...	OMIM:616113
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal ulnar metaphysis morphology, Finger symphalangism, Calcinosis, Patellar hypo...	ORPHA:221008
Brachytelephalangic Chondrodysplasia Punctata	Short distal phalanx of toe, Short distal phalanx of finger, Butterfly vertebrae, Cervical spinal...	ORPHA:79345
Chondrodysplasia Punctata 2, X-Linked Dominant	Kyphoscoliosis, Postnatal growth retardation, Rhizomelia, Epiphyseal stippling, Scoliosis, Hemive...	OMIM:302960
Kaya-Barakat-Masson Syndrome	Scoliosis, Spasticity, Limb dystonia, Axial hypotonia, Generalized hypotonia, Intrauterine growth...	OMIM:619125
Harel-Yoon Syndrome	Scoliosis, Spasticity, Axial hypotonia, Micrognathia, Dystonia, Hypotonia, Hip dysplasia, Talipes...	OMIM:617183
Huntington Disease-Like 2	Dystonia, Weight loss	ORPHA:98934
Cole-Carpenter Syndrome 1	Osteopenia, Reduced bone mineral density, Vertebral compression fracture, Scoliosis, Coronal cran...	OMIM:112240
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Female hypogonadism, Hypogonadism, Central adrenal insufficiency, Tremor, Thyroi...	ORPHA:91347
Cockayne Syndrome B	Postnatal growth retardation, Square pelvis bone, Severe failure to thrive, Hepatomegaly, Hypopla...	OMIM:133540
Dihydrolipoamide Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:246900
Gaucher Disease Type 2	Hepatomegaly, Spasticity, Dystonia, Splenomegaly, Flexion contracture	ORPHA:77260
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Pes planus, Broad distal phalanx of finger, Clinodactyly of the 5th finger, Talipes, Short statur...	OMIM:300990
Osteootohepatoenteric Syndrome	Reduced bone mineral density, Portal fibrosis, Increased serum bile acid concentration, Hypokalem...	OMIM:619377
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Abnormal cartilage matrix, Flared metaphysis, Wide anterior fontanel...	ORPHA:2347
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated circulating hepatic transaminase concentration, Decreased transferrin saturation, Elevat...	ORPHA:300298
Combined Oxidative Phosphorylation Deficiency 39	Scoliosis, Spasticity, Congenital contracture, Joint contracture, Dystonia, Flexion contracture, ...	OMIM:618397
Hardikar Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b...	OMIM:301068
Autosomal Dominant Dopa-Responsive Dystonia	Paresis of extensor muscles of the big toe, Pes cavus, Generalized dystonia, Torticollis, Transie...	ORPHA:98808
Developmental And Epileptic Encephalopathy 16	Dystonia, Severe muscular hypotonia, Hypotonia	OMIM:615338
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Spasticity, Increased serum pyruvate, Axial hypotonia, Dystonia, Flexion contracture, Hypotonia, ...	OMIM:619224
Sanjad-Sakati Syndrome	Postnatal growth retardation, Hypoparathyroidism, Congenital hypoparathyroidism, Hypocalcemia, Se...	ORPHA:2323
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7	Dystonia, Hypotonia	OMIM:620359
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Reduced bone mineral density, Scoliosis, Short stature, Generalized hypotonia, Joint hypermobilit...	OMIM:619115
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Sacral dimple, Short long bone, Vertebral segmentation defect, Talipes equinovarus, Vertebral fusion	OMIM:618845
Fibrochondrogenesis 1	Narrow greater sciatic notch, Joint contracture of the hand, Fibular hypoplasia, Clinodactyly of ...	OMIM:228520
Estrogen Resistance	Osteopenia, Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired ...	OMIM:615363
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Kyphoscoliosis, Multiple carpal ossification centers, Generalized bone demineralization, Dislocat...	OMIM:143095
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis, Osteoporosis, Growth delay, Short ...	OMIM:307030
Opsismodysplasia	Rhizomelia, Disproportionate short-limb short stature, Metaphyseal cupping, Hypoplastic pubic bon...	OMIM:258480
Acrofacial Dysostosis, Rodríguez Type	Fibular hypoplasia, Abnormal form of the vertebral bodies, Finger syndactyly, Abnormal pelvic gir...	ORPHA:1788
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Elevated circulating parathyroid hormone level, Short stature, Glycosuria, H...	OMIM:613388
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Short stature, Mirror image foo...	OMIM:119800
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Osteopetrosis, Hypocalcemic seizures, Hepatomegaly, Growth delay, Abnormal trabec...	OMIM:612301
Aicardi-Goutieres Syndrome 2	Spastic paraplegia, Dystonia	OMIM:610181
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal ulnar metaphysis morphology, Finger symphalangism, Calcinosis, Aplasia/hypop...	ORPHA:221016
Primrose Syndrome	Delayed puberty, Reduced bone mineral density, Kyphosis, Generalized osteoporosis, Short distal p...	OMIM:259050
Pontocerebellar Hypoplasia, Type 14	Spastic tetraplegia, Hypertonia, Dystonia, Hypotonia	OMIM:619301
Hyperphenylalaninemia, Bh4-Deficient, A	Hypertonia, Limb hypertonia, Tremor, Hyperphenylalaninemia, Axial hypotonia, Rigidity, Dystonia, ...	OMIM:261640
Singleton-Merten Syndrome 1	Osteopenia, Pes cavus, Hypoplastic distal radial epiphyses, Genu valgum, Osteolytic defects of th...	OMIM:182250
Pelizaeus-Merzbacher Disease	Writer's cramp, Scoliosis, Tremor, Intention tremor, Short stature, Failure to thrive, Head titub...	OMIM:312080
Omodysplasia 2	Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Dislocated r...	OMIM:164745
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Scoliosis, Elevated circulating creatine kinase concentration, Hyperammonemia, Dystonia, Generali...	OMIM:618416
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Pes cavus, Dystonia	ORPHA:1171
Florid Cemento-Osseous Dysplasia	Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Mandi...	ORPHA:83451
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Kyphoscoliosis, Talipes equinovarus, Osteoporosis, Congenital hip dislocation, Arachn...	OMIM:225400
Myopathy With Extrapyramidal Signs	Hypervalinemia, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Calf muscl...	OMIM:615673
Developmental Malformations-Deafness-Dystonia Syndrome	Femoral retroversion, Scoliosis, Kyphosis, Micromelia, Short stature, Generalized dystonia, Hypop...	ORPHA:79107
Lysinuric Protein Intolerance	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating hepatic trans...	ORPHA:470
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Postnatal growth retardation, 11 pairs of ribs, Bicoronal synostosis, Tracheobronchomalacia, Scol...	OMIM:619184
Familial Osteodysplasia, Anderson Type	Aplasia/hypoplasia of the femur, Abnormal cortical bone morphology, Clinodactyly of the 5th finge...	ORPHA:2769
Pontocerebellar Hypoplasia, Type 15	Spastic tetraplegia, Hypertonia, Dystonia, Hypotonia	OMIM:619302
Dyskeratosis Congenita, Autosomal Dominant 3	Osteopenia, Osteoporosis, Short stature, Growth delay, Intrauterine growth retardation, Avascular...	OMIM:613990
Mandibuloacral Dysplasia	Postnatal growth retardation, Hypertriglyceridemia, Hyperinsulinemia, Glucose intolerance, Short ...	ORPHA:2457
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Reduced bone mineral density, Elevated circulating hepatic transaminase concentration, Hypotrigly...	ORPHA:404454
Spastic Paraplegia 80, Autosomal Dominant	Pes cavus, Lower limb spasticity, Spastic paraplegia, Upper limb spasticity, Dystonia	OMIM:618418
Developmental And Epileptic Encephalopathy 27	Axial hypotonia, Spasticity, Dystonia, Hypotonia	OMIM:616139
Spastic Paraplegia, Ataxia, And Mental Retardation	Spastic gait, Lower limb spasticity, Spastic paraplegia, Dystonia, Ankle clonus	OMIM:607565
Congenital Bile Acid Synthesis Defect Type 2	Rickets, Postnatal growth retardation, Jaundice, Elevated circulating hepatic transaminase concen...	ORPHA:79303
Filippi Syndrome	Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Finger syndactyly, Spasticity, Limit...	ORPHA:3255
Marbach-Rustad Progeroid Syndrome	Femur fracture, Reduced bone mineral density, Short clavicles, Intention tremor, Short stature, G...	OMIM:619322
Thrombocytopenia 6	Myelofibrosis, Osteoporosis	OMIM:616937
Mucolipidosis Iv	Dystonia, Hypergastrinemia, Hypotonia, Generalized hypotonia, Spastic tetraplegia	OMIM:252650
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Fibular hypoplasia, Pseudoarthrosis	OMIM:607278
Seckel Syndrome 1	Postnatal growth retardation, Clinodactyly of the 5th finger, Talipes, Sandal gap, Cone-shaped ep...	OMIM:210600
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Rigidity, Tremor, Dystonia	ORPHA:401901
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Delayed puberty, Osteoporosis, Growth delay, Short stature, Hypogonadotropic hypogona...	ORPHA:2326
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Short ribs, Hypoplast...	OMIM:208500
Cog1-Cdg	Osteopenia, Butterfly vertebrae, Kyphoscoliosis, Postnatal growth retardation, Rhizomelia, Talipe...	ORPHA:263508
Mitochondrial Complex I Deficiency, Nuclear Type 3	Dystonia, Generalized hypotonia, Hepatomegaly	OMIM:618224
Leber Optic Atrophy And Dystonia	Scoliosis, Athetosis, Spasticity, Dystonia	OMIM:500001
Leukodystrophy, Hypomyelinating, 20	Hypertonia, Torticollis, Scoliosis, Dystonia, Spastic tetraplegia	OMIM:619071
Autosomal Dominant Kenny-Caffey Syndrome	Postnatal growth retardation, Abnormal circulating follicle-stimulating hormone concentration, Ca...	ORPHA:93325
Fucosidosis	Beaking of vertebral bodies, Anterior beaking of thoracic vertebrae, Spastic gait, Anterior beaki...	OMIM:230000
16P11.2P12.2 Microduplication Syndrome	Dystonia	ORPHA:261204
Fibrochondrogenesis 2	Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Hypoplastic ilia, Hypop...	OMIM:614524
Developmental Delay And Seizures With Or Without Movement Abnormalities	Tremor, Short stature, Rigidity, Dystonia, Generalized hypotonia	OMIM:617836
Ophthalmomandibulomelic Dysplasia	Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad...	OMIM:164900
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly	OMIM:228250
Alternating Hemiplegia Of Childhood 1	Dystonia, Choreoathetosis	OMIM:104290
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Postnatal growth retardation, Hypotonia, Joint hypermobility, Adducted thumb, Os odon...	OMIM:616603
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Abnormal metatarsal morphology, Short long bone, Aplasia/Hypoplasia involving the pelvis, Hypopla...	ORPHA:163654
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Spasticity, Hyperalaninemia, Failure to thrive, Hyperammonemia, Dystonia, Hypotonia, Generalized ...	OMIM:614739
Christianson Syndrome	Cachexia, Dystonia, Joint hypermobility, Adducted thumb, Arthrogryposis multiplex congenita	ORPHA:85278
Rett Syndrome	Cachexia, Scoliosis, Spasticity, Kyphosis, Short stature, Dystonia, Short foot	OMIM:312750
Rothmund-Thomson Syndrome	Osteopenia, Hypoplasia of the ulna, Calcinosis, Reduced bone mineral density, Metaphyseal striati...	ORPHA:2909
Deafness, Dystonia, And Cerebral Hypomyelination	Intrauterine growth retardation, Failure to thrive, Dystonia	OMIM:300475
Geleophysic Dysplasia 1	Osteopenia, Hepatomegaly, Short long bone, Short foot, Wrist flexion contracture, Irregular capit...	OMIM:231050
Paroxysmal Exertion-Induced Dyskinesia	Torsion dystonia, Dystonia, Lower limb spasticity, Choreoathetosis	ORPHA:98811
Autosomal Recessive Cutis Laxa Type 2A	Postnatal growth retardation, Wide anterior fontanel, Spasticity, Athetosis, Congenital hip dislo...	ORPHA:357058
Lysinuric Protein Intolerance	Hepatomegaly, Pancreatitis, Osteoporosis, Short stature, Failure to thrive, Hyperammonemia, Splen...	OMIM:222700
Dpagt1-Cdg	Hypertonia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Scoliosis, Tre...	ORPHA:86309
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Limb hypertonia, Resting tremor, Axial hypotonia, Camptocormia, Dystonia, Hypotonia, Choreoathetosis	OMIM:606703
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Postnatal growth retardation, Sacral dimple, Prominent protruding coccyx, Joint hyper...	OMIM:300966
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Scoliosis, Osteoporosis, B...	OMIM:619525
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Hypertonia, Spasticity, Exaggerated startle response, Short stature, Short humerus, Short femur, ...	OMIM:618367
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carci...	ORPHA:186
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Reduced bone mineral density, Hepatomegaly, Hyperlipidemia, Portal hypertens...	ORPHA:1414
Cerebrotendinous Xanthomatosis	Cholelithiasis, Spasticity, Abnormal circulating cholesterol concentration, Osteoporosis, Ankle c...	OMIM:213700
Huntington Disease-Like 2	Action tremor, Rigidity, Dystonia, Weight loss	OMIM:606438
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	Hypertonia, Oculogyric crisis, Limb hypertonia, Axial hypotonia, Dystonia, Generalized hypotonia	OMIM:617384
Lipoyltransferase 1 Deficiency	Decreased liver function, Elevated circulating hepatic transaminase concentration, Spastic tetrap...	OMIM:616299
Mitochondrial Complex I Deficiency, Nuclear Type 5	Hepatomegaly, Growth delay, Failure to thrive, Axial hypotonia, Dystonia, Hypotonia, Generalized ...	OMIM:618226
Leukodystrophy, Hypomyelinating, 16	Hypertonia, Intention tremor, Failure to thrive, Dystonia, Hypotonia, Choreoathetosis	OMIM:617964
Pyruvate Dehydrogenase E1-Alpha Deficiency	Tremor, Increased serum pyruvate, Hyperalaninemia, Dystonia, Hypotonia, Generalized hypotonia, Ch...	OMIM:312170
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Delayed puberty, Decreased liver function, Hypertriglyceridemia, Abnormal circulating...	ORPHA:77293
Dyssegmental Dysplasia, Silverman-Handmaker Type	Clubbing of fingers, Hypoplastic pubic bone, Short long bone, Short ribs, Hypoplastic ilia, Aniso...	ORPHA:1865
Ataxia With Vitamin E Deficiency	Pes cavus, Hypertonia, Scoliosis, Tremor, Dystonia, Diabetes mellitus	ORPHA:96
Multiple Mitochondrial Dysfunctions Syndrome 6	Failure to thrive, Spasticity, Dystonia, Hypotonia	OMIM:617954
Arthrogryposis Multiplex Congenita 5	Kyphoscoliosis, Rocker bottom foot, Limitation of knee mobility, Intrauterine growth retardation,...	OMIM:618947
Schneckenbecken Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Disproportionate ...	ORPHA:3144
Neuropathy, Congenital Hypomyelinating, 3	Abnormal foot morphology, Cachexia, 2-3 toe syndactyly, Spasticity, Bilateral talipes equinovarus...	OMIM:618186
Progressive Myoclonic Epilepsy With Dystonia	Generalized neonatal hypotonia, Dystonia	ORPHA:352596
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Elevated circulating parathyroid hormone level, Calvarial osteosclerosis, Achilles te...	OMIM:617994
X-Linked Intellectual Disability, Snyder Type	Kyphoscoliosis, Testicular atrophy, Kyphosis, Osteoporosis, Camptodactyly, Arachnodactyly, Short ...	ORPHA:3063
2,4-Dienoyl-Coa Reductase Deficiency	Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration, Spasticity, Hyperlysinemia...	OMIM:616034
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Pyruvate Dehydrogenase E1-Alpha Deficiency	Pes cavus, Talipes, Increased serum pyruvate, Dystonia, Limb undergrowth, Flexion contracture, Hy...	ORPHA:79243
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteoporosis, Growth delay, Exocrine pancreatic insufficiency, Weight loss, Osteomalacia	ORPHA:309031
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Splenic...	OMIM:610199
Combined Oxidative Phosphorylation Deficiency 13	Growth delay, Axial hypotonia, Dystonia, Choreoathetosis, Severe muscular hypotonia	OMIM:614932
Cushing Disease	Vertebral compression fracture, Increased urinary cortisol level, Increased body weight, Impaired...	ORPHA:96253
Paroxysmal Kinesigenic Dyskinesia	Athetosis, Writer's cramp, Dystonia	ORPHA:98809
Mepan Syndrome	Axial dystonia, Spasticity, Craniofacial dystonia, Limb dystonia, Failure to thrive, Dystonia, Hy...	ORPHA:508093
Fanconi-Bickel Syndrome	Rickets, Postnatal growth retardation, Intrahepatic cholestasis, Hepatomegaly, Increased serum bi...	OMIM:227810
Alternating Hemiplegia Of Childhood 2	Dystonia, Choreoathetosis	OMIM:614820
Jaberi-Elahi Syndrome	Appendicular spasticity, Scoliosis, Tremor, Kyphosis, Joint stiffness, Failure to thrive, Hand cl...	OMIM:617988
Alg12-Cdg	Abnormal bone ossification, Elevated circulating hepatic transaminase concentration, Proximal pla...	ORPHA:79324
Ataxia-Telangiectasia-Like Disorder	Pes cavus, Intention tremor, Short stature, Hypergonadotropic hypogonadism, Absent Achilles refle...	ORPHA:251347
Familial Infantile Bilateral Striatal Necrosis	Hypertonia, Spasticity, Spastic tetraparesis, Cogwheel rigidity, Infantile muscular hypotonia, Fa...	ORPHA:225154
Poland Syndrome	Reduced bone mineral density, Short ribs, Kyphosis, Aplasia/Hypoplasia of the sternum, Cone-shape...	ORPHA:2911
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia	OMIM:218550
Parathyroid Carcinoma	Parathyroid carcinoma, Elevated circulating parathyroid hormone level, Thyroid carcinoma, Pancrea...	ORPHA:143
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Cervical spinal canal stenosis, Ankle flexion contracture, Reduced bone mineral density, Vertebra...	OMIM:620232
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Talipes cavus equinovarus, Dystonia, Hypotonia	ORPHA:139485
Dentatorubral-Pallidoluysian Atrophy	Dystonia, Choreoathetosis	OMIM:125370
Congenital Disorder Of Glycosylation, Type Ii	Hepatomegaly, Decreased body weight, Short stature, Hypothyroidism, Dystonia, Generalized hypoton...	OMIM:607906
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Delayed puberty, Decreased circulating carnitine concentration, Decreased body weight, Growth del...	ORPHA:89842
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Dystonia, Talipes, Hypotonia, Choreoathetosis	OMIM:618497
Sickle Cell Anemia	Jaundice, Cholelithiasis, Finger dactylitis, Splenic infarction, Osteoporosis, Unconjugated hyper...	ORPHA:232
Proximal 16P11.2 Microdeletion Syndrome	Abnormal vertebral morphology, Scoliosis, Failure to thrive, Micrognathia, Hand polydactyly, Obes...	ORPHA:261197
Leukodystrophy, Hypomyelinating, 6	Spasticity, Tremor, Short stature, Axial hypotonia, Rigidity, Dystonia, Hypotonia, Choreoathetosis	OMIM:612438
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Spasticity, Dystonia, Hepa...	OMIM:610333
Basal Ganglia Calcification, Idiopathic, 1	Tremor, Athetosis, Rigidity, Dystonia, Abnormal circulating calcium concentration	OMIM:213600
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Abnormal vertebral morphology, Abnormality of the vertebral column, Failure to thrive, Head titub...	OMIM:250620
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Dystonia, Premature pubarche, Foot joint contracture, Infantile muscular hypotonia	ORPHA:457205
Lethal Congenital Contracture Syndrome 10	Adducted thumb, Stiff neck, Torticollis, Short long bone, Femoral bowing, Hypoplasia of the thymu...	OMIM:617022
Parkinsonism-Dystonia 1, Infantile-Onset	Hypertonia, Oromandibular dystonia, Oculogyric crisis, Tremor, Limb dystonia, Cogwheel rigidity, ...	OMIM:613135
Acrorenal-Mandibular Syndrome	Kyphoscoliosis, Butterfly vertebrae, Hypoplasia of the radius, Hypoplasia of the ulna, Hemiverteb...	OMIM:200980
Beta-Thalassemia	Reduced bone mineral density, Abnormality of iron homeostasis, Hepatomegaly, Cholelithiasis, Sple...	ORPHA:848
Dystonia 13, Torsion, Autosomal Dominant	Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim...	OMIM:607671
Combined Oxidative Phosphorylation Deficiency 32	Kyphoscoliosis, Spasticity, Tremor, Joint contracture, Dystonia, Hypotonia, Choreoathetosis	OMIM:617664
Early-Onset Familial Hypoaldosteronism	Postnatal growth retardation, Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating...	ORPHA:556030
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l...	ORPHA:2256
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Neonatal hypotonia, Increased serum pyruvate, Hyperalaninemia, Spastic paraplegia, Dystonia, Spas...	OMIM:245349
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Spastic tetraplegia, Dystonia	OMIM:618646
Richards-Rundle Syndrome	Joint stiffness, Hypertonia, Reduced bone mineral density, Hypergonadotropic hypogonadism	ORPHA:1399
Intellectual Disability, Buenos-Aires Type	Spastic gait, Reduced bone mineral density, Clinodactyly of the 5th finger, Abnormal pelvic girdl...	ORPHA:3079
Episodic Kinesigenic Dyskinesia 2	Dystonia	OMIM:611031
Chromosome 18P Deletion Syndrome	Radial deviation of finger, Clinodactyly of the 5th finger, Coxa vara, Short stature, Micrognathi...	OMIM:146390
Plaa-Associated Neurodevelopmental Disorder	Rocker bottom foot, Limb hypertonia, Hyperextensibility of the finger joints, Postaxial hand poly...	ORPHA:521426
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Kyphoscoliosis, Postnatal growth retardation, Genu valgum, Torticollis, Spasticity, Metatarsus ad...	ORPHA:300570
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Pes cavus, Clinodactyly of the 5th finger, Facial hypotonia, Spasticity, Bilateral talipes equino...	OMIM:617807
Hyperphenylalaninemia, Bh4-Deficient, B	Limb hypertonia, Tremor, Hyperphenylalaninemia, Rigidity, Dystonia, Generalized hypotonia, Hypoto...	OMIM:233910
Neurodevelopmental Disorder With Dystonia And Seizures	Athetosis, Dystonia, Hypotonia, Intrauterine growth retardation, Spastic tetraplegia	OMIM:619922
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatomegaly, Short long bone, Cholestasis, Biliary cirrhosis, Hypoglycemia, Bilateral talipes eq...	OMIM:620454
Pontocerebellar Hypoplasia, Type 2C	Dystonia	OMIM:612390
Developmental And Epileptic Encephalopathy 92	Spasticity, Dystonia	OMIM:617829
Mitochondrial Myopathy With Lactic Acidosis	Increased serum pyruvate, Spasticity, Dystonia, Hypotonia	OMIM:251950
Kinsship Syndrome	Osteopenia, Polydactyly, Fibular hypoplasia, Sacral dimple, Dislocated radial head, Scoliosis, Sp...	OMIM:619297
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Axial hypotonia, Dystonia	OMIM:618760
Marfan Syndrome	Osteopenia, Limited elbow movement, Reduced bone mineral density, Spondylolisthesis, Cachexia, Sc...	ORPHA:558
Birk-Landau-Perez Syndrome	Hyperkalemia, Limb hypertonia, Facial hypotonia, Growth delay, Camptocormia, Axial hypotonia, Dys...	OMIM:617595
Infantile Dystonia-Parkinsonism	Hypertonia, Abnormal circulating carboxylic acid concentration, Oculogyric crisis, Limb hypertoni...	ORPHA:238455
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Reduced bone mineral density, Elevated circulating hepatic transaminase...	OMIM:613658
Aceruloplasminemia	Torticollis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc...	ORPHA:48818
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Cholestasis, Prolonged neonatal jaundice, Acute hepatic failure, Micronodular cirrhosis, Recurren...	OMIM:256810
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Neonatal hypotonia, Spasticity, Short stature, Dystonia, Flexion contracture	OMIM:252011
Developmental And Epileptic Encephalopathy 6B	Scoliosis, Axial hypotonia, Dystonia, Hypotonia, Choreoathetosis	OMIM:619317
Classic Glucose Transporter Type 1 Deficiency Syndrome	Hypertonia, Dystonia, Spasticity, Choreoathetosis	ORPHA:71277
Otopalatodigital Syndrome Type 2	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Short h...	ORPHA:90652
Glutaric Acidemia I	Hepatomegaly, Elevated circulating glutaric acid concentration, Failure to thrive, Rigidity, Dyst...	OMIM:231670
Pantothenate Kinase-Associated Neurodegeneration	Osteopenia, Leg dystonia, Spasticity, Fractures of the long bones, Craniofacial dystonia, Limb dy...	ORPHA:157850
3-Methylglutaconic Aciduria, Type I	Spasticity, Athetosis, Failure to thrive, Dystonia, Spastic tetraplegia	OMIM:250950
Hypermanganesemia With Dystonia 1	Decreased liver function, Cirrhosis, Increased total iron binding capacity, Elevated circulating ...	OMIM:613280
Cerebellar Ataxia, Cayman Type	Pes planus, Dystonia, Hypotonia, Intention tremor	OMIM:601238
Coenzyme Q10 Deficiency, Primary, 5	Hypertonia, Hyperalaninemia, Dystonia, Hypotonia, Generalized hypotonia, Intrauterine growth reta...	OMIM:614654
Mohr-Tranebjaerg Syndrome	Spasticity, Tremor, Dystonia, Increased susceptibility to fractures	OMIM:304700
Dystonia 12	Torticollis, Tremor, Dystonia	OMIM:128235
Episodic Ataxia, Type 9	Dystonia	OMIM:618924
Primary Dystonia, Dyt4 Type	Kyphoscoliosis, Torticollis, Blepharospasm, Eunuchoid habitus, Upper limb postural tremor, Genera...	ORPHA:98805
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Increased serum pyruvate, Spastic tetraparesis, Hyperalaninemia, Axial hypotonia, Dystonia, Hypot...	OMIM:617668
3-Methylglutaconic Aciduria, Type Viib	Neonatal hypotonia, Neonatal hypoglycemia, Rhizomelia, Spasticity, Tremor, Growth delay, Microgna...	OMIM:616271
Cushing Syndrome Due To Ectopic Acth Secretion	Pheochromocytoma, Increased body weight, Impaired glucose tolerance, Adrenal hyperplasia, Pulmona...	ORPHA:99889
Combined Oxidative Phosphorylation Deficiency 35	Failure to thrive, Spasticity, Dystonia, Generalized hypotonia	OMIM:617873
Rett Syndrome	Scoliosis, Increased serum pyruvate, Infantile muscular hypotonia, Growth delay, Failure to thriv...	ORPHA:778
Leukodystrophy, Hypomyelinating, 25	Growth delay, Dystonia, Hypotonia	OMIM:620243
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Rigidity, Dystonia	OMIM:605909
Dyskeratosis Congenita, Autosomal Recessive 1	Hepatic fibrosis, Osteoporosis, Palmoplantar hyperkeratosis	OMIM:224230
Otopalatodigital Syndrome, Type Ii	Kyphoscoliosis, Rocker bottom foot, Spondylolysis, Femoral bowing, Tibial bowing, Short metacarpa...	OMIM:304120
Parkinsonism-Dystonia 2, Infantile-Onset	Oculogyric crisis, Tremor, Axial hypotonia, Dystonia, Hypotonia	OMIM:618049
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Pancreatitis, Failure to thrive, Hyperammonemia, Dystonia, Splenomegaly, Hypotonia,...	ORPHA:79312
Developmental And Epileptic Encephalopathy 86	Dystonia, Small for gestational age, Generalized hypotonia	OMIM:618910
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Scoliosis, Progressive spasticity, Head titubation, Dystonia, Generalized hypotonia	ORPHA:527497
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Delayed puberty, Short finger, Sacral dimple, Clinodactyly of the 5th finger, Lower-limb joint co...	ORPHA:459070
Spinocerebellar Ataxia Type 2	Postural tremor, Kinetic tremor, Dystonia, Generalized hypotonia	ORPHA:98756
Developmental And Epileptic Encephalopathy 1	Hypertonia, Spastic tetraparesis, Growth delay, Axial hypotonia, Dystonia, Choreoathetosis	OMIM:308350
X-Linked Creatine Transporter Deficiency	Hypertonia, Cachexia, Athetosis, Short stature, Dystonia, Hypotonia, Joint hypermobility, Abnorma...	ORPHA:52503
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Axial hypotonia, Athetosis, Dystonia	OMIM:615159
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Delayed puberty, Postnatal growth retardation, Hepatomegaly, Proximal placement of thumb, Ulnar d...	OMIM:616263
Glut1 Deficiency Syndrome 2	Reduced haptoglobin level, Tremor, Dystonia, Splenomegaly, Choreoathetosis	OMIM:612126
Osteogenesis Imperfecta, Type Vii	Osteopenia, Rhizomelia, Crumpled long bones, Vertebral compression fracture, Femoral retroversion...	OMIM:610682
Pyknoachondrogenesis	Short iliac bones, Craniofacial hyperostosis, Abnormal iliac wing morphology, Short long bone, Sh...	ORPHA:3003
Hyperparathyroidism-Jaw Tumor Syndrome	Elevated circulating parathyroid hormone level, Thyroid carcinoma, Pancreatitis, Osteoporosis, Pr...	ORPHA:99880
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Axial hypotonia, Dystonia	OMIM:619150
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Arachnodactyly, Paranasal sinus hypoplasia, Craniofacial osteoscleros...	OMIM:300373
Hengel-Maroofian-Schols Syndrome	Foot joint contracture, Spasticity, Short stature, Dystonia, Hypotonia	OMIM:619641
Leukodystrophy, Hypomyelinating, 15	Spasticity, Athetosis, Intention tremor, Failure to thrive, Dystonia, Severe short stature	OMIM:617951
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Rigidity, Tremor, Dystonia	ORPHA:314632
Fibular Dimelia-Diplopodia Syndrome	Sacrococcygeal teratoma, Absent tibia	ORPHA:1757
Autosomal Recessive Spastic Paraplegia Type 77	Kyphoscoliosis, Equinovarus deformity, Scissor gait, Paroxysmal dystonia, Lower limb spasticity, ...	ORPHA:466722
Parkinson Disease 19A, Juvenile-Onset	Pill-rolling tremor, Limb hypertonia, Spasticity, Rigidity, Dystonia	OMIM:615528
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Elevated circulating hepatic transaminase concentration, Scoliosis, Hyperalaninemia, Growth delay...	OMIM:615471
4H Leukodystrophy	Delayed puberty, Decreased response to growth hormone stimulation test, Abnormality of thyroid ph...	ORPHA:289494
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Lower limb spasticity, Spastic tetraparesis, Spastic paraplegia, Dystonia, Ankle clonus	OMIM:612319
Juvenile Huntington Disease	Oral motor hypotonia, Rigidity, Dystonia, Weight loss	ORPHA:248111
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Limb hypertonia, Scoliosis, Prominent fingertip pads, Laryngotracheomalacia, Axial hypotonia, Mic...	OMIM:616875
Leukoencephalopathy, Cystic, Without Megalencephaly	Spasticity, Dystonia, Athetosis	OMIM:612951
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypertonia, Limb hypertonia, Tremor, Athetosis, Axial hypotonia, Dystonia, Intrauterine growth re...	OMIM:617710
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Spasticity, Hypothyroidism, Dystonia, Generalized hypotonia, Pes planus	OMIM:613970
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Facial hypotonia, Scoliosis, Hyperlordosis, Elevated circulating creatine kinase co...	ORPHA:365
Bilateral Generalized Polymicrogyria	Oculogyric crisis, Spasticity, Short stature, Growth delay, Axial hypotonia, Dystonia, Spastic te...	ORPHA:208447
Pyruvate Dehydrogenase E2 Deficiency	Neonatal hypotonia, Paroxysmal dystonia, Dystonia, Hypotonia, Generalized dystonia, Choreoathetosis	OMIM:245348
Cousin Syndrome	Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, An...	OMIM:260660
Spinocerebellar Ataxia 48	Cachexia, Tremor, Dystonia	OMIM:618093
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Spasticity, Dystonia, Hypotonia, Choreoathetosis	OMIM:618088
Brain Dopamine-Serotonin Vesicular Transport Disease	Hypertonia, Abnormal foot morphology, Oculogyric crisis, Tremor, Spastic tetraparesis, Limb dysto...	ORPHA:352649
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Lower limb spasticity, Spasticity, Intention tremor, Dystonia, Hypotonia	OMIM:614458
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Pes cavus, Scoliosis, Tremor, Elevated circulating creatine kinase concentration, Dystonia, Hypoa...	OMIM:208920
Gm1 Gangliosidosis Type 1	Beaking of vertebral bodies T12-L3, Acetabular dysplasia, Broad long bone diaphyses, Decerebrate ...	ORPHA:79255
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Short long bone, Femoral bowing, Short ribs, Acetabular spurs, Postaxial po...	OMIM:615503
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis, Growth delay, Hyperammonemia, Dystonia, Hypotonia, Choreoathetosis	ORPHA:289916
17Q11 Microdeletion Syndrome	Osteopenia, Delayed puberty, Elevated circulating parathyroid hormone level, Beaking of vertebral...	ORPHA:97685
Williams Syndrome	Abnormal circulating lipid concentration, Abnormal form of the vertebral bodies, Hyperlordosis, K...	ORPHA:904
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Abnormality of the endocrine system, Scoliosis, Osteoporosis, Exaggerated startle res...	ORPHA:438213
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Spasticity, Dystonia, Hypotonia, Generalized hypotonia	OMIM:616277
Primary Dystonia, Dyt2 Type	Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Generalized dystonia	ORPHA:99657
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hepatomegaly, Osteoporosis, Splenomegaly, Weight loss, Increased susceptibility to fractures	ORPHA:98849
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Infantile muscular hypotonia, Dystonia, Abnormality of the distal phalanx of the thumb, Intention...	ORPHA:453521
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed puberty, Spasticity, Tremor, Short stature, Dystonia, Postural tremor, Hypogonadotropic h...	OMIM:607694
Woodhouse-Sakati Syndrome	Osteopenia, Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsuline...	ORPHA:3464
Oxoglutarate Dehydrogenase Deficiency	Rigidity, Dystonia, Hypotonia	OMIM:203740
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Limb hypertonia, Spasticity, Kyphosis, Infantile muscular hypotonia, Dystonia	ORPHA:500180
Non-Acquired Panhypopituitarism	Osteopenia, Delayed puberty, Pituitary dwarfism, Absence of secondary sex characteristics, Decrea...	ORPHA:90695
Acheiropodia	Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,...	ORPHA:931
Charcot-Marie-Tooth Disease, Type 4K	Kyphoscoliosis, Dystonia	OMIM:616684
Leigh Syndrome	Spasticity, Failure to thrive, Hepatocellular necrosis, Dystonia, Hypotonia, Generalized hypotonia	OMIM:256000
Beta-Propeller Protein-Associated Neurodegeneration	Spastic paraparesis, Rigidity, Tremor, Dystonia	ORPHA:329284
Oromandibular Dystonia	Torticollis, Blepharospasm, Lingual dystonia, Limb dystonia, Weight loss, Generalized dystonia, L...	ORPHA:93958
Acromelic Frontonasal Dysostosis	Patellar hypoplasia, Mesomelic leg shortening, Syndactyly, Preaxial hand polydactyly, Hypopituita...	OMIM:603671
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Spasticity, Athetosis, Elevated circulating creatine kinase concentration...	OMIM:612073
Leukodystrophy, Hypomyelinating, 2	Progressive spasticity, Intention tremor, Axial hypotonia, Rigidity, Dystonia, Head titubation, S...	OMIM:608804
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Scoliosis, Hyperlordosis, ...	OMIM:615356
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Rigidity, Dystonia, Decreased body weight, Spasticity	OMIM:617672
Lesch-Nyhan Syndrome	Podagra, Hyperuricemia, Spasticity, Short stature, Dystonia, Opisthotonus, Hypotonia, Choreoathet...	OMIM:300322
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Abnormal vertebral morphology, Failure to thrive, Head titubation, Dystonia, Hypotonia	ORPHA:88639
Infantile Convulsions And Choreoathetosis	Athetosis, Dystonia, Choreoathetosis	ORPHA:31709
Dystonia 7, Torsion	Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Blepharospasm, Hand tremor	OMIM:602124
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Spasticity, Int...	OMIM:216360
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Spasticity, Spastic tetraparesis, Axial hypotonia, Dystonia, Opisthotonus, Generalized dystonia, ...	OMIM:619653
Pseudo-Torch Syndrome 1	Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:251290
Cadds	Increased circulating very long-chain fatty acid concentration, Elevated circulating hepatic tran...	ORPHA:369942
Phocomelia, Schinzel Type	Aplasia/Hypoplasia of the sacrum, Fibular aplasia, Hypoplasia of the radius, Abnormal tibia morph...	ORPHA:2879
Cerebral Creatine Deficiency Syndrome 1	Pes cavus, Neonatal hypotonia, Hypertonia, Elevated circulating creatine concentration, Spasticit...	OMIM:300352
Spinocerebellar Ataxia With Epilepsy	Tremor, Acute hepatic failure, Dystonia, Hyperalaninemia	ORPHA:254881
Lowe Oculocerebrorenal Syndrome	Kyphosis, Pathologic fracture, Joint hypermobility, Hip dislocation, Rickets, Neonatal hypotonia,...	OMIM:309000
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Neonatal hypotonia, Short stature, Growth delay, Dystonia, Microretrognathia, Brachydactyly, Cran...	ORPHA:457193
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Delayed puberty, Osteopenia, Abnormality of the endocrine system, Primary hypothyroidism, Thyroid...	ORPHA:391487
Nabais Sa-De Vries Syndrome, Type 2	Neonatal hypotonia, Clinodactyly of the 5th finger, Hypothyroidism, Micrognathia, Dystonia, Failu...	OMIM:618829
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu...	OMIM:274000
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Rigidity, Tremor, Dystonia	ORPHA:240085
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polydactyly, Short long bone, Flat acetabular roof, Bowing of the long bones, Short ribs, Microme...	OMIM:614091
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Tremor, Intention tremor, Short stature, Growth delay, Dystonia, Hypogonadotropic hyp...	OMIM:614381
Neurodevelopmental Disorder With Involuntary Movements	Athetosis, Spasticity, Dystonia, Generalized hypotonia	OMIM:617493
Neurodegeneration With Brain Iron Accumulation 3	Writer's cramp, Spasticity, Tremor, Blepharospasm, Rigidity, Dystonia, Choreoathetosis, Decreased...	OMIM:606159
Isolated Atp Synthase Deficiency	Hepatomegaly, Hyperalaninemia, Short stature, Spastic paraplegia, Hyperammonemia, Dystonia, Hypot...	ORPHA:254913
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed puberty, Spastic dysarthria, Spasticity, Intention tremor, Short stature, Dystonia, Postu...	ORPHA:447896
Methionine Adenosyltransferase I/Iii Deficiency	Dystonia, Hypermethioninemia	OMIM:250850
Atypical Juvenile Parkinsonism	Pes cavus, Resting tremor, Scoliosis, Leg muscle stiffness, Rigidity, Dystonia	ORPHA:391411
46,Xy Partial Gonadal Dysgenesis	Delayed puberty, Absence of secondary sex characteristics, Osteoporosis, Hypergonadotropic hypogo...	ORPHA:251510
Guanidinoacetate Methyltransferase Deficiency	Dystonia, Hypotonia, Athetosis	ORPHA:382
Familial Dyskinesia And Facial Myokymia	Resting tremor, Dystonia, Axial hypotonia, Limb hypertonia	ORPHA:324588
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Spasticity, Athetosis, Blepharospasm, Craniofacial dystonia, Failure to thrive, Rigidity, Dystoni...	OMIM:617282
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Polydactyly, Delayed puberty, Pituitary dwarfism, Absence of secondary sex characteri...	ORPHA:95494
Cystic Fibrosis	Osteopenia, Cirrhosis, Decreased body mass index, Elevated circulating hepatic transaminase conce...	ORPHA:586
Developmental And Epileptic Encephalopathy 17	Athetosis, Dystonia	OMIM:615473
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Scoliosis, Fractures of the long bones, Progressive spasticity, Spasticity, Elevated circulating ...	ORPHA:496641
Leukoencephalopathy, Progressive, With Ovarian Failure	Spasticity, Dystonia, Hand tremor	OMIM:615889
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Talipes valgus, Pes cavus, Delayed puberty, Short stature, Dystonia, Flexion contracture, Hypoton...	OMIM:618891
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Dystonia, Hypotonia	OMIM:619157
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Limb hypertonia, Spasticity, Axial hypotonia, Dystonia, Syndactyly, Clinodactyly	OMIM:618087
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hypertonia, Reduced bone mineral density, Abnormal hip bone morphology, Short stature, Arachnodac...	ORPHA:2720
Intellectual Developmental Disorder, Autosomal Dominant 43	Failure to thrive, Dystonia, Hypotonia, Hip dysplasia, Pes planus, Tapered finger	OMIM:616977
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Delayed puberty, Foot joint contracture, Osteoporosis, Growth delay, Decreased serum ...	ORPHA:79408
Williams-Beuren Syndrome	Kyphoscoliosis, Early onset of sexual maturation, Intrauterine growth retardation, Joint hypermob...	OMIM:194050
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Postnatal growth retardation, Hypertriglyceridemia, Genu valgum, Osteolytic defects o...	OMIM:619127
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Spasticity, Dystonia, Hypotonia	OMIM:620094
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Scoliosis, Prominent fingertip pads, Broad thumb, Dystonia, Hypotonia, Joint hypermobility, Pes p...	OMIM:617804
Pontocerebellar Hypoplasia, Type 9	Hypertonia, Facial hypotonia, Spasticity, Axial hypotonia, Dystonia	OMIM:615809
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Limb hypertonia, Spasticity, Axial hypotonia, Dystonia, Choreoathetosis	OMIM:615905
Aneurysm-Osteoarthritis Syndrome	Spondylolisthesis, Intervertebral disk degeneration, Knee osteoarthritis, Scoliosis, Osteoporosis...	ORPHA:284984
Leukodystrophy, Progressive, Early Childhood-Onset	Appendicular spasticity, Short stature, Axial hypotonia, Joint contracture, Dystonia	OMIM:617762
Proximal Myopathy With Extrapyramidal Signs	Progressive extrapyramidal muscular rigidity, Resting tremor, Dystonia, Mildly elevated creatine ...	ORPHA:401768
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur...	ORPHA:420485
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Congenital bilateral hip dislocation, Dystonia, Spastic tetraparesis, Syndactyly	ORPHA:404451
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Neonatal hypotonia, Pancreatitis, Decreased circulating carnitine concentration, Hyperlysinemia, ...	ORPHA:431361
Continuous Spikes And Waves During Sleep	Dystonia	ORPHA:725
Mesomelia-Synostoses Syndrome	Narrow foot, Abnormal vertebral morphology, Carpometacarpal synostosis, Short metatarsal, Mesomel...	OMIM:600383
Developmental And Epileptic Encephalopathy 67	Dystonia, Athetosis	OMIM:618141
Dyskeratosis Congenita, Autosomal Dominant 1	Cirrhosis, Hepatic necrosis, Osteoporosis	OMIM:127550
Gm2 Gangliosidosis, Ab Variant	Postnatal growth retardation, Exaggerated startle response, Short stature, Dystonia, Infantile ax...	ORPHA:309246
Dyssegmental Dysplasia, Silverman-Handmaker Type	Disproportionate short-limb short stature, Short long bone, Bowing of the long bones, Anisospondy...	OMIM:224410
Cutis Marmorata Telangiectatica Congenita	Reduced bone mineral density, Finger syndactyly, Scoliosis, Abnormality of the lower limb, Hypoth...	ORPHA:1556
Dilated Cardiomyopathy With Ataxia	Neonatal hypotonia, Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:66634
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Spastic paraplegia, Dystonia, Choreoathetosis	ORPHA:53583
Spinocerebellar Ataxia Type 11	Dystonia	ORPHA:98767
Friedreich Ataxia	Pes cavus, Abnormal foot morphology, Scoliosis, Spasticity, Areflexia of lower limbs, Impaired vi...	ORPHA:95
Spinocerebellar Ataxia 28	Lower limb hypertonia, Spasticity, Dystonia	OMIM:610246
Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Tremor, Dystonia	ORPHA:79263
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Spasticity, Dystonia, Talipes equinovarus	OMIM:618917
Caribbean Parkinsonism	Action tremor, Rigidity, Dystonia	ORPHA:97355
Tibial Hemimelia	Absent tibia	OMIM:275220
Orofaciodigital Syndrome Type 1	Tarsal synostosis, Reduced bone mineral density, Clinodactyly of the 5th finger, Elevated circula...	ORPHA:2750
Hsd10 Disease, Infantile Type	Spastic tetraparesis, Hyperammonemia, Dystonia, Hypotonia, Hypoglycemia, Choreoathetosis, Spastic...	ORPHA:391428
Huntington Disease	Decreased body mass index, Abnormal circulating cholesterol concentration, Rigidity, Dystonia, We...	ORPHA:399
Loeys-Dietz Syndrome 2	Spondylolisthesis, Scoliosis, Absent distal phalanges, Osteoporosis, Camptodactyly, Postaxial pol...	OMIM:610168
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia	Spastic gait, Pes cavus, Distal lower limb muscle weakness, Scoliosis, Spastic paraplegia, Dyston...	OMIM:620538
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi...	OMIM:113310
Mohr-Tranebjaerg Syndrome	Oromandibular dystonia, Tremor, Focal dystonia, Dystonia, Ankle clonus, Generalized dystonia	ORPHA:52368
Dystonia 34, Myoclonic	Torticollis, Writer's cramp, Head tremor, Dystonia, Hand tremor	OMIM:619724
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hypertonia, Jaundice, Elevated circulating hepatic transaminase concentration, Increased total ir...	ORPHA:309854
Alg9-Cdg	Narrow greater sciatic notch, Abnormal bone ossification, Hepatomegaly, Rhizomelia, Torticollis, ...	ORPHA:79328
Galloway-Mowat Syndrome 1	Pes cavus, Spasticity, Camptodactyly, Slender finger, Short stature, Spastic tetraplegia, Hand cl...	OMIM:251300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Pes cavus, Scoliosis, Elevated circulating creatine kinase concentration, Intention tremor, Rigid...	OMIM:258450
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Hepatomegaly, Hypoca...	ORPHA:667
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Pes cavus, Dystonia, Hypotonia, Arm dystonia, Episodic generalized hypotonia	OMIM:601338
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Accessory spleen, Upper limb undergrowth, Postaxial hand polydactyly, D...	OMIM:236680
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia, Dystonia, Opisthotonus, Hypo...	OMIM:616672
Adult-Onset Cervical Dystonia, Dyt23 Type	Torticollis, Writer's cramp, Axial dystonia, Craniofacial dystonia, Head tremor, Focal dystonia, ...	ORPHA:420492
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Hypertonia, Spasticity, Axial hypotonia, Dystonia, Choreoathetosis	OMIM:618451
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Hip subluxation, Spasticity, Scoliosis, Axial hypotonia, Dystonia	ORPHA:500144
Spinocerebellar Ataxia 17	Rigidity, Dystonia, Intention tremor	OMIM:607136
Severe Generalized Junctional Epidermolysis Bullosa	Osteoporosis, Growth delay, Failure to thrive, Abnormal fingertip morphology, Mitten deformity, A...	ORPHA:79404
Pyruvate Carboxylase Deficiency	Hypertaurinemia, Elevated plasma citrulline, Hepatomegaly, Hyperglutamatemia, Tremor, Increased s...	ORPHA:3008
Ellis-Van Creveld Syndrome	Neonatal short-limb short stature, Genu valgum, Talipes equinovarus, Disproportionate short-limb ...	OMIM:225500
Acromelic Frontonasal Dysplasia	Patellar hypoplasia, Anterior pituitary hypoplasia, Aplasia/Hypoplasia of the tibia, Hypopituitar...	ORPHA:1827
Triosephosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spasticity, Tremor, Kyphosis, Failure to thrive, Prolonged neonatal jau...	OMIM:615512
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Reduced bone mineral density, Abnormality of the pancreas, Long f...	ORPHA:935
Combined Oxidative Phosphorylation Deficiency 12	Neonatal hypotonia, Hepatomegaly, Macrovesicular hepatic steatosis, Spastic tetraparesis, Cholest...	OMIM:614924
Developmental And Epileptic Encephalopathy 64	Paroxysmal dystonia, Limb hypertonia, Micrognathia, Dystonia, Hypotonia	OMIM:618004
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Scoliosis, Tremor, Dystonia, Spastic paraparesis	OMIM:615157
Dystonia 26, Myoclonic	Laryngeal dystonia, Dystonia, Blepharospasm, Torticollis	OMIM:616398
Folinic Acid-Responsive Seizures	Hypertonia, Dystonia, Spastic tetraparesis	ORPHA:79097
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Dystonia, Broad hallux, Hypotonia, Methylmalonic acidemia	OMIM:614105
Stickler Syndrome	Reduced bone mineral density, Spondylolisthesis, Abnormal form of the vertebral bodies, Cachexia,...	ORPHA:828
Parkinsonism-Dystonia 3, Childhood-Onset	Hypertonia, Tremor, Growth delay, Action tremor, Dystonia	OMIM:619738
Kufor-Rakeb Syndrome	Hypertonia, Torticollis, Spasticity, Tremor, Leg muscle stiffness, Spastic paraplegia, Rigidity, ...	OMIM:606693
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Hypertonia, Oculogyric crisis, Rigidity, Dystonia, Opisthotonus, Hypotonia, Choreoathetosis	ORPHA:13
Orofaciodigital Syndrome Type 4	Absent crus of helix, Finger syndactyly, Split hand, Postaxial hand polydactyly, Micromelia, Grow...	ORPHA:2753
Pelizaeus-Merzbacher Disease, Classic Form	Spasticity, Athetosis, Spastic tetraparesis, Titubation, Head tremor, Axial hypotonia, Dystonia, ...	ORPHA:280219
Neuroferritinopathy	Writer's cramp, Leg dystonia, Resting tremor, Blepharospasm, Focal dystonia, Dystonia, Decreased ...	ORPHA:157846
Developmental And Epileptic Encephalopathy 89	Hypertonia, Scoliosis, Spasticity, Axial hypotonia, Dystonia, Limb undergrowth, Flexion contractu...	OMIM:619124
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia	OMIM:165590
Spinocerebellar Ataxia Type 17	Torticollis, Writer's cramp, Spasticity, Blepharospasm, Rigidity, Dystonia	ORPHA:98759
Myhre Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Short long bone, Joint stiffness, Intrauterin...	OMIM:139210
Pmm2-Cdg	Kyphoscoliosis, Elevated circulating hepatic transaminase concentration, Reduced thyroxin-binding...	ORPHA:79318
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Dystonia	OMIM:300857
Spinocerebellar Ataxia, Autosomal Recessive 17	Appendicular hypotonia, Dystonia, Hypotonia, Intention tremor	OMIM:616127
Combined Oxidative Phosphorylation Deficiency 57	Central diabetes insipidus, Diabetes insipidus, Nephrogenic diabetes insipidus, Dystonia, Hypoton...	OMIM:620167
Huntington Disease-Like 3	Spasticity, Extrapyramidal muscular rigidity, Dystonia, Flexion contracture	ORPHA:157946
Basal Ganglia Disease, Biotin-Thiamine Responsive	Hypertonia, Truncal titubation, Craniofacial dystonia, Cogwheel rigidity, Action tremor, Axial hy...	OMIM:607483
Gabriele-De Vries Syndrome	Sandal gap, Facial hypotonia, Hallux valgus, Tremor, Long fingers, Micrognathia, Dystonia, Distal...	OMIM:617557
Mitochondrial Complex I Deficiency, Nuclear Type 26	Dystonia, Limb hypertonia, Choreoathetosis	OMIM:618247
Boomerang Dysplasia	Absent radius, Fibular aplasia, Severe short stature, Hypoplastic iliac body	OMIM:112310
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Tremor, Dystonia, Hypergonadotropic hypogonadism	OMIM:617145
Loeys-Dietz Syndrome 3	Osteopenia, Spondylolisthesis, Intervertebral disk degeneration, Hip osteoarthritis, Knee osteoar...	OMIM:613795
Brain-Lung-Thyroid Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Hypoparathyroidism, Intention tre...	ORPHA:209905
Tay-Sachs Disease	Limited elbow extension, Decerebrate rigidity, Increased serum beta-hexosaminidase, Tremor, Progr...	ORPHA:845
Leukoencephalopathy With Calcifications And Cysts	Spasticity, Tremor, Dystonia	ORPHA:542310
Hepatoerythropoietic Porphyria	Osteopenia, Osteoporosis, Abnormal circulating porphyrin concentration, Splenomegaly, Osteolysis	ORPHA:95159
Short-Rib Thoracic Dysplasia 12	Short finger, Hepatomegaly, Periportal fibrosis, Short long bone, Short ribs, Short palm, Broad f...	OMIM:269860
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Spastic paraparesis, Spasticity, Dystonia, Spastic dysarthria	ORPHA:313772
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm...	OMIM:610978
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Diabetes insipidus, Spasti...	OMIM:225750
Rett Syndrome, Congenital Variant	Neonatal hypotonia, Scoliosis, Spasticity, Athetosis, Kyphosis, Dystonia, Generalized hypotonia, ...	OMIM:613454
Liang-Wang Syndrome	Axial hypotonia, Dystonia	OMIM:618729
Holoprosencephaly	Talipes, Anterior hypopituitarism, Abnormal form of the vertebral bodies, Diabetes insipidus, Sco...	ORPHA:2162
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Dystonia, Short foot, Small hand	OMIM:617903
Huntington Disease-Like 3	Spasticity, Dystonia, Flexion contracture	OMIM:604802
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Hyperglycinemia, Hyperglutamatemia, Spastic tetraparesis, Hyperalaninemia, Failure to thrive, Hyp...	OMIM:620358
Posttransplant Acute Limbic Encephalitis	Hyponatremia, Dystonia	ORPHA:163921
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Scoliosis, 2-3 toe syndactyly, Bilateral talipes equinovarus, Infantile muscular hypotonia, Equin...	ORPHA:522077
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Spasticity, Dystonia, Hypotonia	OMIM:617854
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Dystonia	OMIM:618317
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Premature pubarche, Elevated circulating hepatic transaminase concentration, Elevated circulating...	OMIM:616878
Spastic Ataxia 3, Autosomal Recessive	Scoliosis, Dystonia, Spasticity	OMIM:611390
Congenital Erythropoietic Porphyria	Osteopenia, Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Osteop...	ORPHA:79277
Infantile Neuroaxonal Dystrophy	Spasticity, Progressive spasticity, Spastic tetraparesis, Axial hypotonia, Dystonia, Flexion cont...	ORPHA:35069
Spastic Ataxia 5, Autosomal Recessive	Spastic paraparesis, Spasticity, Dystonia	OMIM:614487
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Lower limb spasticity, Intention tremor, Lower limb hypertonia, Dystonia, Infantile axial hypotonia	ORPHA:438114
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Prominent fingertip pads, Hyperlordosis, Joint hypermobility, Sacral dimple, Scoliosis, Short sta...	OMIM:619950
Alkaptonuria	Reduced bone mineral density, Intervertebral disk calcification, Black pigment gallstones, Arthri...	ORPHA:56
Leukodystrophy, Hypomyelinating, 9	Axial hypotonia, Dystonia, Lower limb spasticity, Intention tremor	OMIM:616140
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Rigidity, Dystonia	OMIM:600795
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Hypertonia, Exaggerated startle response, Axial hypotonia, Hypernatremi...	OMIM:620423
Multiple Endocrine Neoplasia Type 1	Adrenocortical abnormality, Reduced bone mineral density, Neoplasm of the pancreas, Pheochromocyt...	ORPHA:652
Parkinson Disease 2, Autosomal Recessive Juvenile	Pill-rolling tremor, Resting tremor, Tremor, Cogwheel rigidity, Focal dystonia, Rigidity, Dystoni...	OMIM:600116
Charge Syndrome	Delayed puberty, Absent tibia, Bifid femur, Absent radius, Hypoplasia of the ulna, Decreased resp...	OMIM:214800
Dystonia 9	Spastic paraplegia, Dystonia, Choreoathetosis	OMIM:601042
Aicardi-Goutieres Syndrome 7	Hypertonia, Hepatomegaly, Limb hypertonia, Lower limb spasticity, Arthritis, Spastic tetraparesis...	OMIM:615846
Japanese Encephalitis	Pill-rolling tremor, Distal lower limb muscle weakness, Stiff neck, Hypertonia, Genu recurvatum, ...	ORPHA:79139
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Spasticity, Dystonia, Hypotonia	OMIM:619286
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Hypertonia, Maturity-onset diabetes of the young, Oculogyric crisis, Hyperphenylalaninemia, Tremo...	ORPHA:1578
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Axial hypotonia, Scoliosis, Dystonia, Appendicular spasticity	OMIM:617669
Leigh Syndrome	Spasticity, Athetosis, Hyperalaninemia, Hepatic failure, Infantile muscular hypotonia, Growth del...	ORPHA:506
Aicardi-Goutières Syndrome	Hypertonia, Elevated circulating hepatic transaminase concentration, Arthritis, Scoliosis, Extrap...	ORPHA:51
Ataxia-Telangiectasia	Delayed puberty, Glucose intolerance, Tremor, Hypoplasia of the thymus, Intention tremor, Short s...	OMIM:208900
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Elevated circulating hepatic transaminase concentration, Kyphosis, Head titubati...	OMIM:619475
Ulbright-Hodes Syndrome	Postnatal growth retardation, Hypoplasia of the radius, Fibular aplasia, Maternal diabetes, Short...	ORPHA:3404
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Hypertonia, Spasticity, Tremor, Rigidity, Dystonia, Head titubation, Hypotonia, Choreoathetosis	OMIM:618877
Mitochondrial Membrane Protein-Associated Neurodegeneration	Spasticity, Rigidity, Dystonia, Spastic paraparesis, Hand tremor	ORPHA:289560
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis, Bilateral talipes equinovarus, Intention tremor, Micrognathia, Head titubation, Dystoni...	OMIM:619708
Corticobasal Syndrome	Progressive extrapyramidal muscular rigidity, Tremor, Dystonia, Limb dystonia	ORPHA:454887
Mogs-Cdg	Hepatomegaly, Inappropriate antidiuretic hormone secretion, Infantile muscular hypotonia, Hypothy...	ORPHA:79330
Intellectual Developmental Disorder, Autosomal Dominant 42	Limited elbow extension, Limb hypertonia, Infantile axial hypotonia, Limb dystonia, Congenital hy...	OMIM:616973
Familial Paroxysmal Ataxia	Dystonia, Torticollis	ORPHA:97
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Head tremor, Dystonia, Elevated circulating a...	ORPHA:64753
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Rigidity, Dystonia, Postural tremor	OMIM:619911
Pontocerebellar Hypoplasia, Type 2B	Limb hypertonia, Spasticity, Axial hypotonia, Dystonia, Opisthotonus, Hypotonia	OMIM:612389
Perry Syndrome	Rigidity, Tremor, Dystonia, Weight loss	OMIM:168605
Ataxia-Telangiectasia-Like Disorder 1	Lower limb spasticity, Absent Achilles reflex, Dystonia, Hypotonia, Choreoathetosis	OMIM:604391
Ataxia-Oculomotor Apraxia 4	Obesity, Dystonia, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperch...	OMIM:616267
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Disproportionate short-limb short stature, Bowed humerus, Small pituitary gland, Short long bone,...	OMIM:619479
Dyskeratosis Congenita, X-Linked	Intrauterine growth retardation, Cirrhosis, Osteoporosis, Short stature	OMIM:305000
Developmental And Epileptic Encephalopathy 51	Failure to thrive, Dystonia, Hypotonia	OMIM:617339
Spinocerebellar Ataxia Type 3	Dystonia	ORPHA:98757
Autosomal Recessive Spastic Paraplegia Type 78	Pes cavus, Dystonia, Progressive spastic quadriplegia, Progressive spastic paraplegia	ORPHA:513436
Parkinson Disease 14, Autosomal Recessive	Pill-rolling tremor, Axial dystonia, Resting tremor, Spasticity, Tremor, Elevated circulating cre...	OMIM:612953
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Hypoglycemic seizures, Hypertonia, Elevated circulating hepatic transaminase concentration, Eleva...	ORPHA:480864
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Hammertoe, Limb hypertonia, Tracheomalacia, Splenic cyst, Spasticity, Decreased bod...	OMIM:620371
Developmental And Epileptic Encephalopathy 84	Spasticity, Axial hypotonia, Dystonia, Opisthotonus, Generalized hypotonia	OMIM:618792
Mcleod Syndrome	Hepatomegaly, Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Elev...	OMIM:300842
Cimdag Syndrome	Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis, Spasticity, Dystonia, Hypotonia, ...	OMIM:619273
Spinocerebellar Ataxia Type 1	Postural tremor, Dystonia, Generalized hypotonia	ORPHA:98755
Gabriele-De Vries Syndrome	Decreased response to growth hormone stimulation test, Sandal gap, Facial hypotonia, Tremor, Hypo...	ORPHA:506358
Gm2-Gangliosidosis, Ab Variant	Hypertonia, Spastic tetraparesis, Exaggerated startle response, Axial hypotonia, Dystonia, Genera...	OMIM:272750
Amyotrophic Dystonic Paraplegia	Spastic paraplegia, Dystonia	OMIM:105300
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Rigidity, Tremor, Dystonia	OMIM:300894
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Transient hyperphenylalaninemia, Spasticity, Tremor, Hyperphenylalaninemia, Gr...	OMIM:612716
Glutaryl-Coa Dehydrogenase Deficiency	Fasting hypoglycemia, Athetosis, Tremor, Limb dystonia, Rigidity, Dystonia, Severe muscular hypot...	ORPHA:25
Arboleda-Tham Syndrome	Sandal gap, Lower limb hypertonia, Intrauterine growth retardation, Craniosynostosis, Genu varum,...	OMIM:616268
Pontocerebellar Hypoplasia, Type 2A	Dystonia, Opisthotonus, Congenital contracture	OMIM:277470
Neurodegeneration With Brain Iron Accumulation 4	Pes cavus, Oromandibular dystonia, Spasticity, Tremor, Elevated circulating creatine kinase conce...	OMIM:614298
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Dystonia, Cogwheel rigidity, Intention tremor	OMIM:619725
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	Spasticity, Dystonia, Decreased LDL cholesterol concentration	OMIM:607236
Legius Syndrome	Polydactyly, Clinodactyly of the 5th finger, Scoliosis, Short stature, Dystonia, Hypotonia	ORPHA:137605
Choreoacanthocytosis	Progressive choreoathetosis, Pes cavus, Dystonia, Elevated circulating creatine kinase concentration	OMIM:200150
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Pes cavus, Scoliosis, Tremor, Elevated circulating creatine kinase concentration, Head tremor, Dy...	OMIM:606002
Machado-Joseph Disease	Absent Achilles reflex, Dystonia, Spasticity, Rigidity	OMIM:109150
Proximal Renal Tubular Acidosis	Bicarbonaturia, Reduced bone mineral density, Hypokalemia, Short stature, Failure to thrive, Grow...	ORPHA:47159
Manganese Poisoning	Postural tremor, Hypertonia, Dystonia, Cogwheel rigidity	ORPHA:306682
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Progressive extrapyramidal muscular rigidity, Tremor, Blepharospasm, Dystonia	ORPHA:240071
Niemann-Pick Disease, Type C1	Hepatomegaly, Spasticity, Prolonged neonatal jaundice, Dystonia, Splenomegaly, Hypotonia, General...	OMIM:257220
Robinow Syndrome, Autosomal Dominant 1	Radial deviation of finger, Sacral dimple, Rhizomelia, Duplication of the distal phalanx of hand,...	OMIM:180700
Combined Oxidative Phosphorylation Deficiency 3	Neonatal hypotonia, Hepatomegaly, Tremor, Elevated circulating creatine kinase concentration, Hyp...	OMIM:610505
Spinocerebellar Ataxia 21	Postural tremor, Dystonia, Cogwheel rigidity, Intention tremor	OMIM:607454
Metachromatic Leukodystrophy	Gallbladder dysfunction, Dystonia, Hypotonia, Generalized hypotonia, Spastic tetraplegia, Cholecy...	OMIM:250100
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Prolonged neonatal jaundice, Dystonia	OMIM:618868
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hyperhomocystinemia, Dystonia, Hypomethioninemia, Hypotonia, Generalized ...	OMIM:277410
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Hyperlipidemia, Hypergonadotropic...	OMIM:241080
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Fibular hypoplasia, Abnormal vertebral morphology, Hip subluxation, Cervical C2/C3 vertebral fusi...	ORPHA:444077
Early Infantile Epileptic Encephalopathy	Broad finger, Short finger, Broad phalanx of the toes, Spasticity, Tremor, Infantile muscular hyp...	ORPHA:1934
Sporadic Infantile Bilateral Striatal Necrosis	Progressive extrapyramidal muscular rigidity, Resting tremor, Titubation, Infantile muscular hypo...	ORPHA:225147
Idiopathic Camptocormia	Abnormal intervertebral disk morphology, Elevated circulating creatine kinase concentration, Spin...	ORPHA:1320
3-Methylglutaconic Aciduria, Type Viii	Hypertonia, Jaundice, Neonatal hypoglycemia, Tremor, Growth delay, Failure to thrive, Dystonia, G...	OMIM:617248
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Hypertonia, Short stature, Failure to thrive, Dystonia, Hypotonia, Spastic tetraplegia, Small for...	OMIM:620024
Metachromatic Leukodystrophy, Juvenile Form	Decerebrate rigidity, Spasticity, Intention tremor, Dystonia, Generalized hypotonia, Cholecystitis	ORPHA:309263
Metachromatic Leukodystrophy, Adult Form	Decerebrate rigidity, Spasticity, Intention tremor, Dystonia, Generalized hypotonia, Neoplasm of ...	ORPHA:309271
Spinocerebellar Ataxia Type 6	Dystonia, Blepharospasm, Intention tremor	ORPHA:98758
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia, Dystonia, Gout	ORPHA:79233
Adult-Onset Dystonia-Parkinsonism	Spasticity, Tremor, Focal dystonia, Rigidity, Dystonia, Abnormal circulating creatine kinase conc...	ORPHA:199351
Mercury Poisoning	Tremor, Dystonia, Hypokalemia	ORPHA:330021
Episodic Ataxia, Type 2	Dystonia	OMIM:108500
Beta-Ureidopropionase Deficiency	Neonatal hypotonia, Elevated circulating N-carbamoyl-beta-alanine concentration, Scoliosis, Dysto...	OMIM:613161
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Aplasia of the epiglottis, Hepatomegaly, Short clavicles, Short long bone, Postaxial hand polydac...	OMIM:617088
Metachromatic Leukodystrophy, Late Infantile Form	Decerebrate rigidity, Spasticity, Dystonia, Generalized hypotonia, Cholecystitis	ORPHA:309256
Parkinsonian-Pyramidal Syndrome	Spasticity, Intention tremor, Rigidity, Dystonia, Talipes equinovarus	ORPHA:171695
Progressive Supranuclear Palsy	Rigidity, Tremor, Blepharospasm, Dystonia	ORPHA:683
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Axial hypotonia, Dystonia, Splenomegaly, Generalized hypotonia	OMIM:617050
Alternating Hemiplegia Of Childhood	Skewfoot, Facial hypotonia, Tremor, Failure to thrive, Rigidity, Dystonia, Hypotonia, Choreoathet...	ORPHA:2131
Niemann-Pick Disease, Type C2	Jaundice, Hepatomegaly, Spasticity, Prolonged neonatal jaundice, Dystonia, Splenomegaly, Hypotonia	OMIM:607625
Mitochondrial Dna-Associated Leigh Syndrome	Hypertonia, Hepatomegaly, Spasticity, Hyperalaninemia, Infantile muscular hypotonia, Failure to t...	ORPHA:255210
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dystonia, Hypotonia, Hepatomegaly	OMIM:619167
Kcnq2-Related Epileptic Encephalopathy	Dystonia, Hypotonia	ORPHA:439218
Spinocerebellar Ataxia Type 8	Rigidity, Dystonia, Spastic dysarthria, Spasticity	ORPHA:98760
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Spastic tetraplegia, Dystonia, Axial hypotonia, Generalized dystonia	OMIM:618321
Young-Onset Parkinson Disease	Spasticity, Rigidity, Tremor, Dystonia	ORPHA:2828
Developmental And Epileptic Encephalopathy 38	Axial hypotonia, Dystonia, Limb hypertonia	OMIM:617020
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Severe muscular hypotonia, Exaggerated startle response, Facial hypotonia	ORPHA:438216
Metachromatic Leukodystrophy	Decerebrate rigidity, Hemobilia, Tremor, Progressive spasticity, Infantile muscular hypotonia, Dy...	ORPHA:512
Parkinson Disease, Late-Onset	Resting tremor, Rigidity, Tremor, Dystonia	OMIM:168600
Machado-Joseph Disease Type 1	Spasticity, Dystonia	ORPHA:276238
Machado-Joseph Disease Type 2	Spasticity, Dystonia	ORPHA:276241
Lipoid Proteinosis	Dystonia	ORPHA:530
Machado-Joseph Disease Type 3	Spasticity, Dystonia	ORPHA:276244
Hereditary Late-Onset Parkinson Disease	Resting tremor, Rigidity, Dystonia, Weight loss	ORPHA:411602
Neurodegeneration With Brain Iron Accumulation 2B	Hypertonia, Spasticity, Intention tremor, Dystonia, Talipes calcaneovalgus	OMIM:610217
Mitochondrial Complex I Deficiency, Nuclear Type 2	Increased serum pyruvate, Dystonia, Hypotonia, Ankle clonus	OMIM:618222
Combined Oxidative Phosphorylation Deficiency 29	Spasticity, Dystonia, Generalized hypotonia	OMIM:616811
Leber Optic Atrophy	Postural tremor, Dystonia	OMIM:535000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Microvesicular hepatic steatosis, Unconjugated hyperbilirubinemia, Axial hypotonia,...	OMIM:618278
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Microvesicular hepatic steatosis, Spasticity, Tremor, Increased hepatocellular lipid droplets, Fa...	OMIM:220111
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Dystonia, Hypercholesterolemia	OMIM:277460
Alzheimer Disease 3	Dystonia, Spastic tetraparesis	OMIM:607822
Niemann-Pick Disease Type C	Jaundice, Hepatomegaly, Lower limb spasticity, Axial dystonia, Tremor, Limb dystonia, Intention t...	ORPHA:646
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Sandal gap, Hypocalcemia, Toe clinodactyly, Long fingers, Dystonia, Hypotonia, Joint hypermobilit...	OMIM:620330
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Rigidity, Dystonia	OMIM:168601
Parkinson Disease 20, Early-Onset	Rigidity, Tremor, Dystonia, Leg muscle stiffness	OMIM:615530
Neurodegeneration With Brain Iron Accumulation 1	Abnormal foot morphology, Spasticity, Tremor, Blepharospasm, Rigidity, Dystonia, Choreoathetosis	OMIM:234200
Nmda Receptor Encephalitis	Oculogyric crisis, Neoplasm of the thymus, Rigidity, Dystonia, Opisthotonus, Choreoathetosis	ORPHA:217253
Hyperostosis Cranialis Interna	Calvarial hyperostosis, Osteosclerosis of the base of the skull, Hyperostosis cranialis interna	OMIM:144755
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Spasticity, Dystonia, Elevated circulating creatine kinase concentration, Limb dystonia	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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Phenotypes

lacZ Expression

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Human diseases caused by Slc39a14 mutations

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IMPC related publications

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Access Data Release 21.0 Data