| Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia |
OMIM:606664 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s... |
OMIM:600121 |
| Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis |
OMIM:608805 |
| Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,... |
OMIM:118651 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Hepatomegaly, Short stature, Elevated ... |
OMIM:614727 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... |
ORPHA:2501 |
| Eiken Syndrome |
|
Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Short ... |
ORPHA:79106 |
| Isolated Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Short stature, Elevated circulating creatine kinase concentration, Hyp... |
ORPHA:408 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Severe short stature, Rhizomelia, Wid... |
OMIM:619598 |
| Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
| Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ... |
OMIM:251450 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Abnorm... |
ORPHA:94068 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Joint laxity, Diabetes mellitus, Short stature, Short neck, Osteoporosis, Delayed thelarche, Scol... |
OMIM:616033 |
| Winchester Syndrome |
|
Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Generalized os... |
OMIM:277950 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal ... |
ORPHA:93351 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Enlarged epiphyses, Irregularity of vertebral bodies, Abnormal circulating C-reactive protein con... |
ORPHA:1159 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
| Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Short stature, Hypoglycemia, Hepatocellu... |
ORPHA:369 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Hypertonia, Hepatome... |
OMIM:226980 |
| Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... |
OMIM:222600 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Gout, Increased LDL cholesterol c... |
OMIM:610947 |
| Progressive Pseudorheumatoid Dysplasia |
|
Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi... |
OMIM:208230 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
| Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp... |
OMIM:259450 |
| Slc35A2-Cdg |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Abnormal long bone mo... |
ORPHA:356961 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Severe short stature, Pes planus, Ovoid vertebral bodies,... |
OMIM:132400 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
| Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met... |
OMIM:184260 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Joint hyperflexibility, Brachydactyly, Osteoporosis, Short distal phalanx of finger |
ORPHA:2787 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Short stature, Bowing of the legs, Reduced bone mineral density, Platyspon... |
OMIM:617974 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Hypogonadotropic hypogonadism |
OMIM:615269 |
| Hemidystonia-Hemiatrophy Syndrome |
|
Limb dystonia, Rhizomelic leg shortening, Hemiatrophy, Dystonia, Dense calvaria |
ORPHA:306741 |
| Extensor Tendons Of Finger Anomalies |
|
Limitation of joint mobility, Osteoporosis, Camptodactyly of finger |
ORPHA:3294 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Camptodactyly of finger, Hypogonadotropic hypogonadism, Micrognathia, Hypoglycemia... |
ORPHA:48431 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... |
OMIM:600785 |
| Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scol... |
OMIM:234250 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Short stature, ... |
ORPHA:319195 |
| Prieto Syndrome |
|
11 pairs of ribs, Coxa valga, Osteoporosis, Hypotonia, Patellar subluxation, Talipes equinovarus,... |
OMIM:309610 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Short stature, Small for gestational age, Kyphosis, Reduced bone mineral density, Delayed ossific... |
OMIM:618392 |
| Short Stature, Dauber-Argente Type |
|
Long toe, Osteopenia, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth... |
OMIM:619489 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
| Forsythe-Wakeling Syndrome |
|
Growth delay, Short stature, Osteoporosis, Decreased body weight |
OMIM:613606 |
| Perrault Syndrome 1 |
|
Short stature, Increased circulating gonadotropin level, Osteoporosis, Spastic diplegia, Talipes ... |
OMIM:233400 |
| Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Short stature, Camptodactyly of finger, Recurrent fractures, Micrognathia, Short ... |
ORPHA:3409 |
| Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... |
OMIM:620121 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
| Osteogenesis Imperfecta, Type Xxi |
|
Pes planus, Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Hypotonia, Coxa va... |
OMIM:619131 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Short stature, Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Hyperconvex... |
OMIM:184255 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
| Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia |
OMIM:143500 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T... |
ORPHA:53697 |
| Femoral-Facial Syndrome |
|
Short femur, Short stature, Maternal diabetes, Micrognathia, Abnormal sacrum morphology, Abnormal... |
ORPHA:1988 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... |
ORPHA:93308 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of th... |
OMIM:250460 |
| Autosomal Dominant Focal Dystonia, Dyt25 Type |
|
Axial dystonia, Torticollis, Focal dystonia, Limb dystonia, Lingual dystonia, Laryngeal dystonia,... |
ORPHA:329466 |
| Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short stature, Short neck, Short toe, Short metatarsal, Osteoporosis, Pseudohyp... |
OMIM:103580 |
| Pseudopseudohypoparathyroidism |
|
Short metacarpal, Short stature, Short neck, Osteoporosis, Short metatarsal, Pseudohypoparathyroi... |
OMIM:612463 |
| Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Abnorm... |
OMIM:619795 |
| Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Short stature, Short neck, Elevated circulating thyroid-stimulating hormone con... |
OMIM:612462 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Short stature, Premature osteoarthritis, Coxa vara, Genu ... |
OMIM:607078 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Failure to thrive... |
OMIM:615198 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Short stature, Recurrent fractures, Hypergonadotropic hypogonadism, Increased circulating gonadot... |
ORPHA:2410 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Kyphosis, Osteoporosis, Hypotonia, Macrovesicular hepatic steatosis, Scoliosis, Fai... |
OMIM:618234 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Coxa valga, Osteoporosis, Finger clinodactyly, Patellar subluxation, Bilateral talipes equinovaru... |
ORPHA:2958 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... |
ORPHA:3344 |
| Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Delayed puberty |
OMIM:615271 |
| Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Short stature, Recurrent fract... |
OMIM:614856 |
| Premature Ovarian Failure 2B |
|
Osteoporosis, Delayed puberty |
OMIM:300604 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Short sta... |
OMIM:147891 |
| Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Hypercalcemia, Fr... |
OMIM:602080 |
| Bruck Syndrome |
|
Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor... |
ORPHA:2771 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
| Warburg Micro Syndrome 1 |
|
Overlapping toe, Short stature, Kyphoscoliosis, Micrognathia, Osteoporosis, Hypotonia, Spastic di... |
OMIM:600118 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Hepatomegaly, Ulnar ... |
OMIM:620076 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Increased circulat... |
ORPHA:79230 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Severe short stature, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyl... |
OMIM:126550 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short stature, Hypoglycemia, Small for gestational age, Micrognathia, Postnatal growth retardatio... |
ORPHA:73272 |
| Pseudoachondroplasia |
|
Limited hip extension, Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Os... |
OMIM:177170 |
| Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum |
|
Short stature, Cogwheel rigidity, Growth delay, Hypertonia, Dystonia, Decreased body weight, Spas... |
OMIM:618284 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short stature, Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelv... |
ORPHA:2370 |
| Geroderma Osteodysplastica |
|
Beaking of vertebral bodies, Pes planus, Severe short stature, Recurrent fractures, Talipes, Hip ... |
ORPHA:2078 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... |
OMIM:600081 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Crumpled long bones, Short stature, Isosexual precocious puberty, Metap... |
ORPHA:2788 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Micrognathia, Shor... |
OMIM:255800 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Cone-shaped epiphysis, Platyspondyly, Short stature, Osteoporosis |
ORPHA:71267 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester... |
OMIM:232700 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ... |
ORPHA:99642 |
| Dystonia 33 |
|
Axial dystonia, Limb dystonia, Axial hypotonia, Dystonia, Spasticity, Pes cavus |
OMIM:619687 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short femur, Fractured radius, Small for gestational age, Decreased fibular diameter,... |
OMIM:616897 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Short stature, Rhizomelia, Micro... |
OMIM:613848 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Bowing of the legs, Flared metaphysis, Growth delay, Elevated circulating parathyroid... |
OMIM:619073 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Short stature, Rhizomelia, Micrognathia, Delayed epiphyseal ... |
ORPHA:166016 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Short stature, Osteoporosis |
ORPHA:2786 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased bone den... |
OMIM:136300 |
| Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Short stat... |
OMIM:609324 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Mesomelic short stature, Short tibia, Neonatal short-limb short stature... |
OMIM:156230 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Axial hypotonia, Small for gestational age, Rocker bottom foot, Kyphoscoliosis... |
OMIM:214150 |
| Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Dense metaphyseal bands, Osteopenia, Short stature, Small for gestational age, Slender long bones... |
ORPHA:50811 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Osteoporosis, Biliary tract ... |
ORPHA:79301 |
| Sialidosis Type 2 |
|
Hepatomegaly, Short stature, Tremor, Kyphosis, Splenomegaly, Flexion contracture, Osteoporosis, P... |
ORPHA:87876 |
| Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Micrognathia, Knee dislocation, Irregular vertebral endplates, Microretrognathia, Short stature, ... |
OMIM:618363 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
| Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short... |
OMIM:271630 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
| Osteogenesis Imperfecta, Type Xii |
|
Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Bowing of the legs, ... |
OMIM:613849 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Decreased ci... |
OMIM:241530 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
| Achondroplasia |
|
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... |
OMIM:100800 |
| Hyaline Fibromatosis Syndrome |
|
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis, Fail... |
OMIM:228600 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ... |
OMIM:156530 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
| Rhyns Syndrome |
|
Osteopenia, Radial bowing, Short stature, Decreased response to growth hormone stimulation test, ... |
OMIM:602152 |
| Dystonia 4, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Hemidystonia, Torsion dystonia, Limb dystonia, Slender build |
OMIM:128101 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Short stature, Flat capit... |
OMIM:226900 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
| Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Elevated circ... |
OMIM:264700 |
| Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Short statur... |
OMIM:239000 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Micrognathi... |
OMIM:615381 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
| Juvenile Paget Disease |
|
Bowing of the long bones, Short stature, Recurrent fractures, Cranial hyperostosis, Osteoporosis,... |
ORPHA:2801 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Moderately short stature, Flexion con... |
ORPHA:157965 |
| Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Short neck, Tibial bowing, Femoral bowing, Knee flexion contracture, Generalized hy... |
OMIM:601559 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Axial hypotonia, Short stature, Coxa valga, Advanced ossification of carpal bones, ... |
OMIM:620269 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short stature, Short middle phalanx of the 2nd finger, Multiple small vert... |
OMIM:156510 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... |
ORPHA:139507 |
| Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Hypoplastic frontal sinuses, Reduced bone mineral de... |
OMIM:265900 |
| Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Short phalanx of finger, Broad metacarpa... |
ORPHA:56304 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Maturity-onset diabetes of the young, Micrognathia, Postnatal growth retard... |
ORPHA:254531 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Severe short stature, Protrusio acetabuli, Abnormal femoral head morphology, Short to... |
ORPHA:2619 |
| Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Hepatomegaly, Ovoid vertebral bodies, Coxa valga, Epiphyseal deformities of tubular... |
OMIM:253000 |
| Ruijs-Aalfs Syndrome |
|
Pes planus, Thoracic kyphoscoliosis, Short stature, Down-sloping shoulders, Micrognathia, Hepatoc... |
OMIM:616200 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Elevated circ... |
OMIM:277440 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ... |
ORPHA:166011 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Fibular hypoplasia, Aplasia/Hyp... |
OMIM:612447 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Abnormal circulati... |
OMIM:307800 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... |
OMIM:603546 |
| Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619232 |
| Weismann-Netter Syndrome |
|
Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi... |
OMIM:112350 |
| Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Osteoporosis |
OMIM:233300 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lower limb spasticity, Lumbar hyperlordosis, Short stature, Kyphosis, Hip dislocation, Hypotonia,... |
OMIM:616756 |
| Cantu Syndrome |
|
Broad hallux, Ovoid vertebral bodies, Short hallux, Coxa valga, Short neck, Large for gestational... |
OMIM:239850 |
| Mycetoma |
|
Back pain, Abnormality of the knee, Osteomyelitis, Structural foot deformity, Bone cyst, Osteopor... |
ORPHA:2583 |
| Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Osteoporosis, Joint hyperflexibil... |
ORPHA:1515 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
| Dystonia 30 |
|
Torticollis, Writer's cramp, Leg dystonia, Arm dystonia, Dystonia, Oromandibular dystonia |
OMIM:619291 |
| Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ... |
OMIM:147480 |
| Epiphyseal Chondrodysplasia, Miura Type |
|
Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino... |
OMIM:615923 |
| Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... |
ORPHA:209919 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Tibial bowing, Femoral bowi... |
ORPHA:289157 |
| Atelosteogenesis, Type I |
|
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia... |
OMIM:108720 |
| Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
| Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Postur... |
ORPHA:79239 |
| Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoar... |
ORPHA:77296 |
| Dystonia 25 |
|
Lingual dystonia, Torticollis, Laryngeal dystonia, Limb dystonia |
OMIM:615073 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Lumbar hyperlordosis, Camptodactyly of finger, Knee osteoarthritis, Osteoporosis, Bone cyst, Coxa... |
ORPHA:2848 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Stiff interphalangeal joints, Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypogonadotropic hypog... |
ORPHA:465508 |
| Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... |
OMIM:613313 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Sandal gap, Rhizomelia, Hypoglycemia, Small for gestational age, Hypo... |
OMIM:607143 |
| Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Joint laxity, Hepatomegaly, Hyperl... |
OMIM:253010 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Severe short stature, Osteomalacia, Coxa valga, Avascular necrosis of the capital fem... |
ORPHA:1901 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Osteoporosis, Osteolysis, Weight loss |
ORPHA:100024 |
| Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Short stature, Joint stiffness, Hyperlordosis, Abnormal form of the ve... |
ORPHA:577 |
| Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Hypomethioninemia, Postnatal growth retardation, Osteoporosis, Hypotonia, Hyperhomocy... |
ORPHA:2169 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Severe short stature, Camptodactyly of finger, Osteomalacia, Recurrent fractures, Joi... |
ORPHA:2176 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly, Short stature |
OMIM:300484 |
| Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Short stature, Generalized joint laxity, Patellar hyp... |
OMIM:609325 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Male hypogonadism, Short stature, Hypothyroidism, Osteoporosis |
OMIM:618625 |
| Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
| Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Osteoporosis, Decreased serum ... |
OMIM:618187 |
| Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Short neck, Hypopla... |
ORPHA:93333 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris... |
OMIM:259600 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Short stature, Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, ... |
OMIM:605274 |
| Menkes Disease |
|
Joint laxity, Decreased circulating ceruloplasmin concentration, Short stature, Metaphyseal spurs... |
OMIM:309400 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced ... |
ORPHA:970 |
| Striatonigral Degeneration, Childhood-Onset |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Hypotonia, Ankle clonus... |
OMIM:617054 |
| Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Severe short st... |
OMIM:231070 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... |
OMIM:271640 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
| Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Cholelithiasis, Increased erythrocyte protoporphyrin concentration |
OMIM:300752 |
| Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
| Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Short stature, Recurrent fractures, Kyphoscoliosis, Hip dislocation,... |
OMIM:616507 |
| Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo... |
OMIM:231100 |
| Congenital Disorder Of Glycosylation, Type Iiy |
|
Hip subluxation, Hypotonia, Scoliosis, Reduced bone mineral density |
OMIM:620200 |
| Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc, Hepatomegaly |
OMIM:601979 |
| Familial Hyperprolactinemia |
|
Osteopenia, Osteoporosis, Female hypogonadism |
ORPHA:397685 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Hypogonadism, Osteoporosis, Delayed puberty |
OMIM:615270 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Short stature, Micrognathia, Flexion contracture, Osteoporosis, Spastic tetraplegia, Opisthotonus... |
OMIM:615851 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Short stature, Micrognathia, Wide anterior fontanel, Fibular h... |
OMIM:201170 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... |
OMIM:610475 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Severe short stature, Osteoporosis |
OMIM:204730 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Multiple joint contractures, Hypermanganesemia, Infantile axial hypotonia, Tremor, Scissor gait, ... |
ORPHA:521406 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Short stature, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow e... |
OMIM:614078 |
| Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
| Estrogen Resistance Syndrome |
|
Osteopenia, Increased circulating gonadotropin level, Delayed epiphyseal ossification, Absence of... |
ORPHA:785 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... |
OMIM:214900 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Osteoporosis, Spastic tetraplegia |
OMIM:619971 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int... |
OMIM:617093 |
| Dystonia 6, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Limb dystonia, Oromandibular dystonia, Lingual dys... |
OMIM:602629 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Tremor, Hypotonia, Obesity, Limb dystonia, Bilateral coxa valga, Intrauterine growth retardation |
OMIM:620270 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating... |
OMIM:616860 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas... |
OMIM:615954 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Disproportionate short stature, Flared metaphysis, Knee osteoarthritis, Flattened epiphysis, Tibi... |
ORPHA:93356 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Maternal diabetes, Micrognathia, ... |
ORPHA:93346 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Small pituitary gland, Genu valgum |
OMIM:614880 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:98754 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... |
ORPHA:98807 |
| Hypochondroplasia |
|
Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hypoplasia of the e... |
OMIM:146000 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen... |
OMIM:610489 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Arachnodactyly, Kyphoscoliosis, Limitation of joint mobility, Osteoporosis, Hyperhomocystinemia, ... |
OMIM:236200 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Abnormal bone ossification, H... |
ORPHA:93315 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O... |
OMIM:608728 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... |
ORPHA:457395 |
| Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... |
ORPHA:75508 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:98793 |
| Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Absent thumb, Absent radius, Micromelia, Micrognathia, Humeroradial synostosis,... |
OMIM:251230 |
| Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple p... |
OMIM:301014 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Elevated hepatic transaminase, Thoracic scoliosis, Multiple joint contractures, Short... |
ORPHA:2959 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... |
OMIM:608940 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:177904 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract... |
ORPHA:93307 |
| Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Osteopenia, Hypogonadism, Osteoporosis, Absence of pubertal development |
OMIM:615267 |
| Niemann-Pick Disease, Type A |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Rigid... |
OMIM:257200 |
| Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
| Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:177901 |
| Spondylo-Ocular Syndrome |
|
Pes planus, Abnormal intervertebral disk morphology, Facial hypotonia, Short stature, Short neck,... |
ORPHA:85194 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Thin bony cortex, Short stature, Osteomalacia, Recurrent fractures, Bowing of ... |
OMIM:300554 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Osteoporosis... |
OMIM:219080 |
| Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... |
ORPHA:168549 |
| Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ... |
ORPHA:93296 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... |
OMIM:617952 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Hypoglycemia, Spastic tetraparesis, Dystonia, Failure to thrive |
ORPHA:67046 |
| Dystonia, Early-Onset, And/Or Spastic Paraplegia |
|
Laryngeal dystonia, Spastic paraplegia, Dystonia |
OMIM:619681 |
| Idiopathic Hypercalciuria |
|
Osteopenia, Abnormal circulating calcium concentration, Osteoporosis |
ORPHA:2197 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
| Nail-Patella Syndrome |
|
Back pain, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hy... |
ORPHA:2614 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli... |
ORPHA:440354 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Kyphosis, Pituitary adenoma, Osteoporosis, Increased circulating ACTH... |
OMIM:219090 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... |
ORPHA:1106 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... |
ORPHA:53693 |
| Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Sp... |
OMIM:235200 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Bowing of the long bones, Short stature, Tremor, Metaphyseal sclerosis, Postnatal gro... |
OMIM:612199 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
| Propionic Acidemia |
|
Hepatomegaly, Axial hypotonia, Short stature, Hypoglycemia, Osteoporosis, Hyperammonemia, Hypergl... |
OMIM:606054 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Hypocalcemic tetany, Postnatal growth retarda... |
ORPHA:93324 |
| Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating gro... |
OMIM:608747 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... |
OMIM:602557 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Premature adrenarche, Hypothalamic luteinizing hormone-releasing hormone deficiency, ... |
ORPHA:398079 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, H... |
ORPHA:172 |
| Atelosteogenesis Type Iii |
|
Absent humerus, Abnormal cervical curvature, Epiphyseal stippling of the humerus, Short tubular b... |
ORPHA:56305 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Osteoporosis, Obesity, Absence of pubertal deve... |
OMIM:610628 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa... |
OMIM:618961 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Short stature, Recurrent fractures, Hypog... |
ORPHA:2235 |
| Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Pes planus, Short stature, Recurrent fractur... |
OMIM:610967 |
| Prader-Willi Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Generalized hypotonia, Short p... |
OMIM:176270 |
| Cleidocranial Dysplasia |
|
Micrognathia, Coxa vara, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Decreased sku... |
ORPHA:1452 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Spleno... |
ORPHA:231222 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Adrenal hyperplasia, Diabetes mellitus, Osteoporosis, Increased body weight, Increase... |
OMIM:615830 |
| Spastic Paraplegia 87, Autosomal Recessive |
|
Lower limb spasticity, Lumbar hyperlordosis, Upper limb spasticity, Dystonia, Spastic gait |
OMIM:619966 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypertonia, Hepatic fibrosis, Hypoalbuminemia, Hepatic steatosis, Hypothyroidism, Hepatomegaly, P... |
OMIM:619487 |
| Spastic Paraplegia 47, Autosomal Recessive |
|
Pes planus, Short stature, Genu recurvatum, Overweight, Spastic paraplegia, Flexion contracture, ... |
OMIM:614066 |
| Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Short stature, Recurrent fractures, Increased susceptibility to fractures, Femoral bo... |
OMIM:615066 |
| Shashi-Pena Syndrome |
|
Short metacarpal, Hypoglycemia, Kyphosis, Osteoporosis, Hypotonia, Scoliosis, Cervical C2/C3 vert... |
OMIM:617190 |
| 19P13.3 Microduplication Syndrome |
|
Kyphoscoliosis, Micrognathia, Precocious puberty, Long fingers, Hip dislocation, Osteoporosis, Gr... |
ORPHA:447980 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... |
ORPHA:93360 |
| Temple Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Small for gestational age, ... |
ORPHA:254516 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Osteoporosis, Hypotonia, Rickets, Type I diabetes mellitus, Failure to thrive |
OMIM:560000 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Pes planus, Short stature, Tapered finger, Short neck, Hip ... |
OMIM:618395 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Failure to thrive, Short stature, Small for gestational age, Genu valgum, Slender lon... |
OMIM:608154 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Abnor... |
ORPHA:85435 |
| Rhyns Syndrome |
|
Osteopenia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bone morphology, Abno... |
ORPHA:140976 |
| Aromatase Deficiency |
|
Osteopenia, Eunuchoid habitus, Hypergonadotropic hypogonadism, Delayed epiphyseal ossification, I... |
ORPHA:91 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hallux valgus, Osteopenia, Pes planus, Thoracic scoliosis, Micrognathia, Short neck, Osteoarthrit... |
OMIM:618000 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Postnatal growth retardation... |
OMIM:313400 |
| Slc39A8-Cdg |
|
Osteopenia, Severe muscular hypotonia, Short stature, Craniosynostosis, Failure to thrive in infa... |
ORPHA:468699 |
| Achondroplasia |
|
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Axial hypotonia, Iliac crest serration, Short stature, Micromelia, Short neck, Wide distal femora... |
OMIM:613320 |
| Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Dystonia, Hypotonia, Growth delay, Scoliosis, Generalized hypotonia |
OMIM:618244 |
| Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Postural tremor, Writer's cramp, Cogwheel rigidity, Talipes equinova... |
OMIM:128230 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Micrognathia, Short neck, Knee dislocation, Shoulder dislocation, Generalized hypoton... |
OMIM:245600 |
| Sandhoff Disease, Adult Form |
|
Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Dystonia, Spasticity |
ORPHA:309169 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Growth delay, Syndactyly, Osteoporosis, Camptodactyly |
OMIM:616006 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Hyperparathyroidism, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bow... |
OMIM:618188 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 |
|
Intrauterine growth retardation, Axial hypotonia, Spastic tetraplegia, Dystonia |
OMIM:251280 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Anterior atlanto-occ... |
ORPHA:536467 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Hypo... |
ORPHA:3206 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Premature thelarche, Abnormal hand morphology, Osteolysis involving bones of the uppe... |
ORPHA:371428 |
| Xp21 Deletion Syndrome |
|
Joint laxity, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine ... |
ORPHA:261476 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of... |
ORPHA:239 |
| Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Bowing of the long bones, Diabetes mellitus, Failure to thrive in infancy, He... |
ORPHA:231226 |
| Acromicric Dysplasia |
|
Short metacarpal, Severe short stature, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot... |
OMIM:102370 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Rocker bottom foot, Micrognathia, Short neck, Kyphosis, Hip dysplasia, Areflexia of lower limbs, ... |
OMIM:611890 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Pes planus, Thin bony cortex, Rhizomelia, Hypotonia, Femoral bowing, Platyspondyly, Thoracic kyph... |
OMIM:619638 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulati... |
OMIM:613327 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Scoliosis, Short femur, Foot oligodactyly, Amelia |
OMIM:601357 |
| Desbuquois Dysplasia 2 |
|
Short neck, Metaphyseal widening, Knee dislocation, Short phalanx of finger, Genu varum, Joint la... |
OMIM:615777 |
| Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures |
ORPHA:85193 |
| Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L... |
ORPHA:1423 |
| Prader-Willi Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Premature adrenarche, Short st... |
ORPHA:739 |
| Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... |
OMIM:223800 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Decreased response to growth hormone sti... |
OMIM:614732 |
| Coxoauricular Syndrome |
|
Short stature, Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral densi... |
ORPHA:1508 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Joint laxity, Short metacarpal, Pes planus, Short stature, Camptodactyly of finger, K... |
OMIM:612350 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Abnormal pel... |
OMIM:167320 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased body weight, Hepatic fibrosis, Fast... |
ORPHA:264580 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Short stature, Small for gestational age, Maturity-onset diabetes of the young, Micrognathia, Pos... |
ORPHA:96184 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture, Spastic tetraplegia, Generalized hypotonia, Dystonia, Intrauterine... |
OMIM:618237 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Pes planus, Facial hypotonia, Short stature, Genu recurvatum, Overweight, Generalized joint laxit... |
ORPHA:280763 |
| Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... |
ORPHA:198 |
| Pachydermoperiostosis |
|
Hepatomegaly, Osteomyelitis, Elevated circulating growth hormone concentration, Splenomegaly, Lim... |
ORPHA:2796 |
| Dent Disease 1 |
|
Bulging epiphyses, Thin bony cortex, Short stature, Osteomalacia, Recurrent fractures, Bowing of ... |
OMIM:300009 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic... |
ORPHA:93316 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Ketotic hypogly... |
ORPHA:79240 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Short sta... |
OMIM:300998 |
| Ollier Disease |
|
Micromelia, Joint stiffness, Precocious puberty, Abnormal cartilage morphology, Osteolysis, Multi... |
ORPHA:296 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Flexion contracture, Increased body weight, Hypothalamic luteinizing hormone-releasin... |
ORPHA:398069 |
| Kniest Dysplasia |
|
Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal cartilage collage... |
OMIM:156550 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Short metacarpal, Short stature, Avascular necrosis of the capital femoral epiphysis,... |
OMIM:190351 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Clinodactyly, Osteoporosis, Hypogonadotropic hypogonadism |
OMIM:614838 |
| Gm1-Gangliosidosis, Type Iii |
|
Short stature, Kyphosis, Flared iliac wing, Platyspondyly, Anterior beaking of lumbar vertebrae, ... |
OMIM:230650 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Coxa vara, Tibial bowing, Enthesitis, Hypocalcemic tetany, Hypophosphatemic rickets, Sclerotic ve... |
ORPHA:289176 |
| Analbuminemia |
|
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... |
OMIM:616000 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Short stature, Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Ost... |
ORPHA:93160 |
| Familial Isolated Hyperparathyroidism |
|
Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone ... |
ORPHA:99879 |
| Tenosynovial Giant Cell Tumor |
|
Abnormality of the knee, Joint stiffness, Limitation of joint mobility, Osteolysis, Abnormal shou... |
ORPHA:66627 |
| Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Osteoporosis, Hypotonia, Elevated circulating phytanic acid concentration, Generali... |
OMIM:266510 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Spastic tetraplegia, Choreoathetosis, Adrenal insufficiency, Generalized hypotonia, Dystonia, Sco... |
OMIM:618238 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Portal inflammat... |
OMIM:602347 |
| Combined Oxidative Phosphorylation Deficiency 50 |
|
Generalized dystonia, Short stature, Hip dysplasia, Adrenal insufficiency, Intrauterine growth re... |
OMIM:619025 |
| Werner Syndrome |
|
Low back pain, Diabetes mellitus, Short stature, Elevated circulating aspartate aminotransferase ... |
OMIM:277700 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Tremor, Osteoporosis, Generalized hypotonia, Spasticity |
ORPHA:529665 |
| Congenital Myopathy 22A, Classic |
|
Hip contracture, Thoracic scoliosis, Talipes, Micrognathia, Spinal rigidity, Kyphosis, Achilles t... |
OMIM:620351 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... |
OMIM:602111 |
| Dystonia With Cerebellar Atrophy |
|
Torticollis, Craniofacial dystonia, Dystonia |
OMIM:611694 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
| Allan-Herndon-Dudley Syndrome |
|
Pes planus, Axial hypotonia, Short stature, Abnormality of thyroid physiology, Kyphoscoliosis, Sm... |
ORPHA:59 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Arthrogryposis, Distal, Type 4 |
|
Osteopenia, 2-5 finger cutaneous syndactyly, Torticollis, Equinovarus deformity, Kyphosis, Campto... |
OMIM:609128 |
| Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Back pain, Kyphoscoliosis, Rigidity, Cervical spondylosis, Spasticity, Localized osteoporosis |
ORPHA:199354 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating osteocalcin level, Short stature, Osteomalacia, Decreased circulating parat... |
ORPHA:157215 |
| Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Short metacarpal, Iliac crest serration, Short s... |
OMIM:607326 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Micrognathia, Short neck, Large for gestational age, Flexion contracture, Hemivertebrae, Tibial b... |
ORPHA:96334 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, O... |
OMIM:259770 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
| Spastic Ataxia 1, Autosomal Dominant |
|
Spastic paraplegia, Pes cavus, Leg muscle stiffness, Dystonia |
OMIM:108600 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... |
OMIM:268305 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Axial hypotonia, Facial hypotonia, Kyphoscoliosis, Micrognathia, Tremor, Short ne... |
OMIM:300055 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... |
OMIM:619484 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short stature, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polyda... |
OMIM:258860 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
| Lopes-Maciel-Rodan Syndrome |
|
Axial hypotonia, Tremor, Kyphosis, Small hand, Short foot, Ankle clonus, Hypertonia, Scoliosis, D... |
OMIM:617435 |
| Laron Syndrome |
|
Decreased serum insulin-like growth factor 1, Severe short stature, Short long bone, Limb undergr... |
OMIM:262500 |
| Beta-Thalassemia Major |
|
Hypoparathyroidism, Hepatomegaly, Bowing of the long bones, Diabetes mellitus, Failure to thrive ... |
ORPHA:231214 |
| Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Osteopenia, Bowing of the long bones, Microretrognathia, Rhizomelia, Short sta... |
OMIM:616229 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Micrognathia, Postnatal growth retardation, Precocious puberty, Acromicria, Small hand, Hypotonia... |
ORPHA:254525 |
| Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
| Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... |
ORPHA:1517 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Abnorm... |
ORPHA:2636 |
| Autosomal Recessive Spastic Paraplegia Type 56 |
|
Spastic paraplegia, Spastic gait, Dystonia |
ORPHA:320411 |
| Post-Traumatic Pituitary Deficiency |
|
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... |
ORPHA:95619 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Decreased circulating plasmalogen concentration, Rhizomelia, Micrognat... |
OMIM:222765 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
| Mednik Syndrome |
|
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... |
ORPHA:171851 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Hypertonia, Dystonia, Int... |
ORPHA:26792 |
| X Small Rings |
|
Joint laxity, Toe syndactyly, Tapered finger, Short neck, Osteoporosis, 2-3 toe syndactyly, Upper... |
ORPHA:96201 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, El... |
OMIM:235555 |
| Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla... |
ORPHA:485 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Short stature, Craniosyno... |
OMIM:616723 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Hepatic steatosis, Paradoxical increased cortisol secretion on ... |
ORPHA:189427 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Short stature, Tremor, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, La... |
OMIM:617284 |
| Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Short stature, Hand polydactyly, Camptodactyly, Short tibia |
OMIM:258865 |
| Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Micromelia, Micrognathia, Short neck, Coxa va... |
ORPHA:800 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Tremor, Spasticity, Dystonia |
OMIM:614561 |
| Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Short stature, Limited elbow movement, Joint stiffness, Micrognathia, Decrease... |
OMIM:614008 |
| Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Failure to thrive, Recurrent fractures, Micrognathia, Hyperextensibility of the kn... |
OMIM:601812 |
| Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Neonatal short-limb short stature, Severe limb shortening, Radial bowing,... |
OMIM:151210 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Impaired glucose tolerance, Tapered finger, Long fingers, Hypotonia, Growth delay, Glucose intole... |
OMIM:614407 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Lower limb spasticity, Axial hypotonia, Short stature, Absent pubertal growth spurt, Abnormality ... |
ORPHA:464282 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Short palm, Short phalanx of ... |
OMIM:249420 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... |
OMIM:609945 |
| Roifman Syndrome |
|
Hip contracture, Epiphyseal dysplasia, Biconvex vertebral bodies, Short stature, Hypogonadotropic... |
ORPHA:353298 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Axial hypotonia, Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovar... |
OMIM:620306 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra... |
OMIM:611717 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Generalized jo... |
ORPHA:432 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Congenital hip dislocation, Decreased response to growth hormone stimulation test, Mi... |
OMIM:616007 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Hyperlordosis, Tr... |
OMIM:128100 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
| Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... |
ORPHA:210110 |
| Leukodystrophy, Hypomyelinating, 18 |
|
Flexion contracture, Spastic tetraplegia, Progressive spasticity, Dystonia, Scoliosis, Spasticity... |
OMIM:618404 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Joint laxity, Elevated hepatic transaminase, Diabetes mellitus, Hypotonia, Cholestasis, Drumstick... |
ORPHA:541423 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Micrognathia, Tremor, Postnatal growth retardation, Prominent protruding coccyx, Spastic diplegia... |
ORPHA:480907 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Large for gestational age, Osteoporosis, Hypotonia, Ankle clo... |
OMIM:615398 |
| Epilepsy, Nocturnal Frontal Lobe, 4 |
|
Dystonia |
OMIM:610353 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Postaxial polydactyly, Micrognathia, Short neck, Wide anterior fontanel, Prea... |
OMIM:617925 |
| Immunodeficiency 12 |
|
Short stature, Osteoporosis, Clubbing, Growth delay, Decreased body weight |
OMIM:615468 |
| Macs Syndrome |
|
Joint laxity, Pes planus, Short stature, Hypergonadotropic hypogonadism, Micrognathia, Osteoporos... |
OMIM:613075 |
| Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... |
ORPHA:3312 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz... |
OMIM:618019 |
| Gorham-Stout Disease |
|
Osteopenia, Torticollis, Abnormal pelvis bone morphology, Osteomyelitis, Osteolysis involving bon... |
ORPHA:73 |
| Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis,... |
OMIM:277900 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Micrognathia, Postnatal growth retardation, Metaphys... |
ORPHA:73230 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
| Shox-Related Short Stature |
|
Short stature, Micrognathia, Short neck, Obesity, Tibial bowing, Short foot, Genu valgum, Forearm... |
ORPHA:314795 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... |
OMIM:605814 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Generalized joint la... |
ORPHA:536471 |
| Developmental And Epileptic Encephalopathy 7 |
|
Hypotonia, Spastic tetraparesis, Dystonia |
OMIM:613720 |
| Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal... |
ORPHA:1427 |
| Leukodystrophy And Acquired Microcephaly With Or Without Dystonia |
|
Generalized hypotonia, Dystonia |
OMIM:616763 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossification, Flexion contracture, Preax... |
OMIM:210710 |
| 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 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... |
OMIM:616300 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Kyphoscoliosis, Shor... |
OMIM:309583 |
| Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Short stature, Postnatal growth retardation, Rickets, Osteoporosis... |
OMIM:212750 |
| Farber Disease |
|
Elevated hepatic transaminase, Abnormality of the knee, Short stature, Intrahepatic cholestasis w... |
ORPHA:333 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Streak ovary, Hypergonadotropic hypogonadism, Lumbar hyperlordosis, Kyphosis, Increas... |
ORPHA:2232 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Failure to thrive, Axial hypotonia, Dystonia |
OMIM:619651 |
| Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Head tremor, Limb dystonia |
OMIM:614860 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Hepatomegaly, Bowing of the long bones, Diabetes mellitus, Impaired glucose tolerance... |
ORPHA:2088 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Short humerus, Hepatomegaly, Short femur, Hypoglycemia, Methylmalo... |
ORPHA:17 |
| Partington Syndrome |
|
Lower limb spasticity, Flexion contracture, Focal dystonia, Limb dystonia, Camptodactyly |
OMIM:309510 |
| Diamond-Blackfan Anemia 7 |
|
Osteopenia, Short thumb, Osteoporosis, Growth delay, Triphalangeal thumb, Scoliosis, Intrauterine... |
OMIM:612562 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
| Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc |
OMIM:608118 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased serum iron, Elevated hepatic iron concentration |
OMIM:206100 |
| Dystonia 35, Childhood-Onset |
|
Dystonia |
OMIM:619921 |
| Amish Lethal Microcephaly |
|
Hepatomegaly, Micrognathia, Limitation of joint mobility, Osteoporosis, Hypotonia, Decreased skul... |
ORPHA:99742 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612286 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Short stature, Kyphosco... |
OMIM:615349 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Joint hyperflexibility, Upper limb hypertonia, Limb dystonia, Failure to thrive |
ORPHA:319199 |
| Striatonigral Degeneration, Infantile |
|
Choreoathetosis, Spasticity, Failure to thrive, Dystonia |
OMIM:271930 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Short stature, Kyphoscoliosis, Micrognathia, Absent frontal sinuses, Sh... |
OMIM:102500 |
| Dystonia 28 |
|
Torticollis, Generalized dystonia, Short stature, Precocious puberty, Leg dystonia, Arm dystonia,... |
ORPHA:589618 |
| Hypermanganesemia With Dystonia 2 |
|
Axial hypotonia, Generalized dystonia, Dystonia, Limb joint contracture, Elevated circulating cre... |
OMIM:617013 |
| Functioning Gonadotropic Adenoma |
|
Osteopenia, Decreased response to growth hormone stimulation test, Isosexual precocious puberty, ... |
ORPHA:91348 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Severe short stature, Talipes, Severe generalized osteoporosis, Micrognathia, Ky... |
OMIM:210730 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Severe short stature, Micrognathia, Kyphosis, Reduced bone mineral density, Vertebral segmentatio... |
ORPHA:2617 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wide... |
OMIM:613091 |
| Premature Aging Syndrome, Okamoto Type |
|
Diabetes mellitus, Osteoporosis |
OMIM:601811 |
| Leukodystrophy, Hypomyelinating, 14 |
|
Growth delay, Spasticity, Generalized hypotonia, Dystonia |
OMIM:617899 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Spasticity, Failure to thrive, Hypotonia, Dystonia |
OMIM:618276 |
| Werner Syndrome |
|
Increased bone mineral density, Short stature, Rocker bottom foot, Joint stiffness, Insulin resis... |
ORPHA:902 |
| Linear Verrucous Nevus Syndrome |
|
Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes, Reduced bone mineral density, Scolios... |
ORPHA:2611 |
| Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Patchy reduct... |
ORPHA:249 |
| Brittle Cornea Syndrome |
|
Hallux valgus, Pes planus, Arachnodactyly, Osteoporosis, Increased susceptibility to fractures, J... |
ORPHA:90354 |
| Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Hallux valgus, Lower limb spasticity, Osteopenia, Diabetes mellitus, Small for gestational age, M... |
OMIM:620194 |
| Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Craniofacial dystonia |
OMIM:619565 |
| Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Short stature, Protrusio acetabuli, Recurrent fractures, Kyphoscoliosis... |
OMIM:610968 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubular bones of ... |
ORPHA:85184 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Decreased skull ossification, Parti... |
ORPHA:955 |
| Atypical Rett Syndrome |
|
Tremor, Kyphosis, Small hand, Hypotonia, Pill-rolling tremor, Short foot, Abnormal muscle tone, G... |
ORPHA:3095 |
| Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Osteoporosis, Obesity, Hypoplasia of the ovary, Decreas... |
OMIM:615300 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Severe short stature, Bowed humerus, Lumbar hyperlordosis, Kyphoscoliosis,... |
OMIM:184253 |
| Omodysplasia 1 |
|
Short humerus, Increased fibular diameter, Rhizomelia, Micrognathia, Limited knee flexion, Short ... |
OMIM:258315 |
| Developmental And Epileptic Encephalopathy 69 |
|
Axial hypotonia, Spastic tetraplegia, Congenital contracture, Dystonia, Arthrogryposis multiplex ... |
OMIM:618285 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Absent radius, Ulnar bowing, Split... |
OMIM:171480 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Tremor, Scoliosis, Dystonia, Delayed menarche |
ORPHA:330050 |
| Camurati-Engelmann Disease, Type 2 |
|
Osteopenia, Hip contracture, Thoracolumbar scoliosis, Knee flexion contracture, Hyperostosis, Hyp... |
OMIM:606631 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Joint stiffness, Rigidity, Choreoathetosis, Dystonia |
ORPHA:98810 |
| Bruck Syndrome 2 |
|
Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Femoral bowing, Increa... |
OMIM:609220 |
| Alg3-Cdg |
|
Osteopenia, Spastic tetraparesis, Abnormality of the endocrine system, Metaphyseal chondrodysplas... |
ORPHA:79321 |
| Eiken Syndrome |
|
Short stature, Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular... |
OMIM:600002 |
| Acromesomelic Dysplasia 3 |
|
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... |
OMIM:609441 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Osteopenia, Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Diabetes mellitus, S... |
OMIM:614813 |
| Greenberg Dysplasia |
|
Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ... |
OMIM:215140 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... |
ORPHA:2502 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short stature, Patellar aplasia, Abnormal fibula morphology, Apl... |
ORPHA:988 |
| Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... |
OMIM:114000 |
| Baralle-Macken Syndrome |
|
Pes planus, Tapered finger, Kyphosis, Obesity, Dystonia, Neonatal hypotonia, Spasticity |
OMIM:619255 |
| Hypophosphatemic Bone Disease |
|
Short stature, Osteomalacia, Bowing of the legs, Rickets, Hypophosphatemia |
OMIM:146350 |
| Foxg1 Syndrome |
|
Short stature, Kyphoscoliosis, Hypotonia, Choreoathetosis, Severe postnatal growth retardation, S... |
ORPHA:561854 |
| Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Axial hypotonia, Decreased response to growth hormone stimulation test, Patchy osteosclerosis, Mi... |
OMIM:241410 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Severe short stature, Hypoparathyroidism, ... |
OMIM:156400 |
| Baker-Gordon Syndrome |
|
Joint laxity, Abnormal foot morphology, Choreoathetosis, Scoliosis, Dystonia, Neonatal hypotonia |
OMIM:618218 |
| Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Short stature, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Spinal ... |
ORPHA:582 |
| Cleidocranial Dysplasia 2 |
|
Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Wide anterior font... |
OMIM:620099 |
| X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone... |
ORPHA:89936 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Lower limb spasticity, Tremor, Spastic paraplegia, Leg muscle stiffness, Spastic dysarthria, Hype... |
ORPHA:251282 |
| Refractory Celiac Disease |
|
Elevated hepatic transaminase, Osteoporosis, Weight loss, Hypophosphatemia, Hypoalbuminemia, Hypo... |
ORPHA:398063 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Osteopenia, Portal hypertension, Growth delay, Hepatic fibrosis, Dystonia, Intrauterine growth re... |
OMIM:617341 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Short stature, Large tarsal bones, Micrognathia, Flex... |
OMIM:215150 |
| Pde4D Haploinsufficiency Syndrome |
|
Micrognathia, Short metatarsal, Irregular vertebral endplates, Elevated circulating parathyroid h... |
ORPHA:439822 |
| Catel-Manzke Syndrome |
|
Joint laxity, Short humerus, Short metacarpal, Short femur, Micrognathia, Postnatal growth retard... |
OMIM:616145 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Axial hypotonia, Dystonia, Oculogyric crisis, Tremor, Rigidity, Cogwheel rigidity, Hypertonia, Li... |
OMIM:613135 |
| Stxbp1-Related Encephalopathy |
|
Tremor, Hypotonia, Spastic tetraplegia, Dystonia, Spasticity |
ORPHA:599373 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Multiple p... |
OMIM:166210 |
| Gm1 Gangliosidosis |
|
Tremor, Abnormal form of the vertebral bodies, Decerebrate rigidity, Generalized hypotonia, Short... |
ORPHA:354 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Vertebral segmentation defect, Short st... |
OMIM:611209 |
| Developmental And Epileptic Encephalopathy 53 |
|
Hypotonia, Spastic tetraplegia, Elevated circulating creatine kinase concentration, Dystonia |
OMIM:617389 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Axial hypotonia, Tremor, Dystonia, Spasticity, Pes cavus |
OMIM:607317 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality... |
ORPHA:3035 |
| Myoclonus-Dystonia Syndrome |
|
Torticollis, Writer's cramp, Dystonia |
ORPHA:36899 |
| Three M Syndrome 1 |
|
Pes planus, Short stature, Small for gestational age, Short neck, Postnatal growth retardation, I... |
OMIM:273750 |
| Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly,... |
OMIM:206920 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Joint hypermobility, Kyphosis, Osteoporosis, Scoliosis... |
OMIM:619718 |
| Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hepatocellular carcinom... |
OMIM:232200 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Axial hypotonia, Hypothyroidism, Dystonia |
OMIM:619647 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Micrognathia, Short neck, Reduced bone mineral density, Glucose intolerance, Hepatic ... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Osteopenia, Micrognathia, Short neck, Reduced bone mineral density, Glucose intolerance, Hepatic ... |
ORPHA:99228 |
| Monosomy X |
|
Osteopenia, Micrognathia, Short neck, Reduced bone mineral density, Glucose intolerance, Hepatic ... |
ORPHA:99226 |
| Turner Syndrome |
|
Osteopenia, Micrognathia, Short neck, Reduced bone mineral density, Glucose intolerance, Hepatic ... |
ORPHA:881 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Short stature, Joint stiffness, Postnatal growth retardation, Splenomegaly, Hypoton... |
OMIM:620210 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, El... |
ORPHA:289548 |
| Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Short long bone, Scoliosis, Camptodactyly, Intrauterine growth retardation |
OMIM:619751 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Micrognathia, Fasting hyperinsulinemia, Reduced bone mineral density, Fin... |
ORPHA:79474 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Lower limb spasticity, Generalized dystonia, Dystonia, Short stature, Spastic tetraparesis, Limb ... |
OMIM:205100 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating lute... |
ORPHA:168558 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i... |
OMIM:269250 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple... |
OMIM:615234 |
| Indolent Systemic Mastocytosis |
|
Splenomegaly, Hepatomegaly, Osteoporosis |
ORPHA:98848 |
| 46,Xx Gonadal Dysgenesis |
|
Osteopenia, Streak ovary, Arachnodactyly, Short stature, Increased circulating gonadotropin level... |
ORPHA:243 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Short stature, Sm... |
ORPHA:140 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Short stature, Impaired glucose tolerance, Splenomegaly, Postaxial hand polydactyly... |
OMIM:615630 |
| Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Axial dystonia, Stiff neck, Kyphoscoliosis, Generalized hypotonia, Dystonia, Pancreatitis |
OMIM:618230 |
| Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Pes planus, Decreased circulating ceruloplasmin concentration, Decre... |
OMIM:304150 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Postnatal growth reta... |
ORPHA:453533 |
| Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Pes planus, Generalized dystonia, Rigidity, Hypotonia, Scoliosis, Dystonia |
OMIM:618239 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Micrognathia, Flexion contracture, Hyperglycemia, Calcinosis, Hepatomegaly, Short cla... |
OMIM:248370 |
| Seizures-Scoliosis-Macrocephaly Syndrome |
|
Overlapping toe, Hypotonia, Scoliosis, Reduced bone mineral density |
ORPHA:466926 |
| Primary Dystonia, Dyt21 Type |
|
Axial dystonia, Paroxysmal dystonia, Torticollis, Generalized dystonia, Limb dystonia, Focal dyst... |
ORPHA:306734 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Tremor, Hypoplastic vertebral ... |
ORPHA:3455 |
| Nasu-Hakola Disease |
|
Bone cyst, Limitation of joint mobility, Reduced bone mineral density, Abnormal epiphysis morphol... |
ORPHA:2770 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly, Hypotonia, Dystonia |
ORPHA:139406 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Hypotonia, Genu valgum, Growth delay, Infantile axial hypotonia, Joint hypermobility |
OMIM:617798 |
| Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contr... |
ORPHA:666 |
| Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Narrow greater sciatic notch, Long fibula, Generaliz... |
OMIM:250220 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Spastic paraplegia, Joint hyperflexibility, Lower limb hypertonia, Upper limb hypertoni... |
OMIM:614898 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Pes planus, Flexion contracture, Hip dislocation, Osteoporosis, Elbow flexion contrac... |
OMIM:614438 |
| Osteogenesis Imperfecta, Type Iv |
|
Short stature, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral... |
OMIM:166220 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
| Senior-Loken Syndrome 9 |
|
Osteopenia, Hypoplasia of the femoral head, Obesity, Cholestasis, Polydactyly, Hypogonadism, Hepa... |
OMIM:616629 |
| Adrenomyodystrophy |
|
Short stature, Primary adrenal insufficiency, Hypotonia, Reduced bone mineral density, Failure to... |
ORPHA:977 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Pes planus, Cachexia, Micrognathia, Joint stiffness, Abnormality of the lower limb, Flexion contr... |
ORPHA:1979 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Lumbar int... |
OMIM:271510 |
| Lathosterolosis |
|
Elevated hepatic transaminase, Toe syndactyly, Bilobate gallbladder, Micrognathia, Lumbosacral me... |
OMIM:607330 |
| Aicardi-Goutieres Syndrome 3 |
|
Elevated hepatic transaminase, Hypotonia, Hepatosplenomegaly, Generalized hypotonia, Dystonia, Sp... |
OMIM:610329 |
| Acrocephalopolydactyly |
|
Genu recurvatum, Short neck, Hepatosplenomegaly, Short long bone, Limb undergrowth, Brachydactyly |
ORPHA:221054 |
| Cooper-Jabs Syndrome |
|
Short stature, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Hypotonia, Red... |
ORPHA:1488 |
| Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Dystonia |
OMIM:619196 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Short stature, Hip d... |
ORPHA:85170 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Micrognathia, Equin... |
OMIM:224400 |
| Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Micromelia, Micrognathia, Flexion contracture, Osteoporosis, Rickets, O... |
ORPHA:2671 |
| Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Short stature, Large for gestational age, Osteoporosis, Hypotonia, Larg... |
ORPHA:363705 |
| Cardiofaciocutaneous Syndrome 3 |
|
Short stature, Short neck, Hypotonia, Reduced bone mineral density, Scoliosis, Failure to thrive |
OMIM:615279 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Pes planus, Thoracic scoliosis, Thoracic kyphoscoliosis, Distal joint laxity, General... |
ORPHA:1900 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hyperphenylalaninemia, Tremor, Hypotonia, Choreoathetosis, Hypertonia, Dystonia |
OMIM:261630 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Axial hypotonia, Tremor, Choreoathetosis, Growth delay, Lumbar kyphoscoliosis, Dystonia, Clinodac... |
OMIM:619422 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra... |
OMIM:224300 |
| Craniometadiaphyseal Dysplasia |
|
Osteopenia, Broad long bones, Short stature, Coxa valga, Wide anterior fontanel, Flared metaphysi... |
OMIM:269300 |
| Aggressive Systemic Mastocytosis |
|
Portal hypertension, Hypersplenism, Osteoporosis, Osteolysis, Weight loss, Hepatosplenomegaly, De... |
ORPHA:98850 |
| Hutchinson-Gilford Progeria Syndrome |
|
Growth delay, Osteolysis, Generalized osteoporosis, Micrognathia |
OMIM:176670 |
| Wieacker-Wolff Syndrome |
|
Short stature, Proximal placement of thumb, Micrognathia, Short neck, Hyperlordosis, Kyphosis, Hi... |
OMIM:314580 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Tremor, Hemiatrophy, Scoliosis, Generalized hypotonia |
ORPHA:306669 |
| Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Dystonia, Spastic tetraplegia, Infantile muscular hypotonia |
ORPHA:263410 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Lower limb spasticity, Spastic paraplegia, Upper limb spasticity, Scoliosis, Dystonia, Decreased ... |
OMIM:609195 |
| Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax... |
ORPHA:93357 |
| Filippi Syndrome |
|
Postnatal growth retardation, 2-4 toe syndactyly, Cutaneous syndactyly, Finger clinodactyly, Dyst... |
OMIM:272440 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Reduced bone mineral density, Genu valgum, Hypogonadism, Spina bifida occulta |
ORPHA:2983 |
| Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Sandal gap, Rhizomelia, Cervical kyphosis, Micrognat... |
OMIM:108721 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Short stature, Coxa val... |
OMIM:618150 |
| Free Sialic Acid Storage Disease |
|
Hepatomegaly, Failure to thrive in infancy, Abnormal foot morphology, Splenomegaly, Hypotonia, Re... |
ORPHA:834 |
| Dystonia-Deafness Syndrome 1 |
|
Generalized dystonia, Hypoplastic scapulae, Oculogyric crisis, Femoral retroversion, Kyphoscolios... |
OMIM:607371 |
| Dystonia 15, Myoclonic |
|
Writer's cramp, Dystonia |
OMIM:607488 |
| Developmental And Epileptic Encephalopathy 44 |
|
Axial hypotonia, Short stature, Athetosis, Dystonia, Spasticity, Failure to thrive |
OMIM:617132 |
| Cranioectodermal Dysplasia 1 |
|
Hepatic fibrosis, Hypocalcemia, Joint laxity, Hepatomegaly, Rhizomelia, Sagittal craniosynostosis... |
OMIM:218330 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypotonia, Hypertonia, Dystonia, Neonatal hypotonia,... |
OMIM:264470 |
| Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Spastic hemiparesis, Micrognathia, Hypotonia, Spastic tetraplegia, Scoliosis, Dystonia, Spasticity |
OMIM:619616 |
| Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Micrognathia, Postnatal growth retardation, Wide anterior fontanel, Ulnar... |
OMIM:619135 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Hypotriglyceridemia, Short phalanx o... |
ORPHA:85167 |
| Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Osteopenia, Hypotonia, Generalized hypotonia, Dystonia |
OMIM:617268 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Achilles tendon calcification, Elevated circulating parathyroid hormon... |
OMIM:617994 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Short stature, Genu recurvatum, Hypotonia, Reduced bone mineral density, Slender long bone, Joint... |
ORPHA:1185 |
| Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Hyperthyroidism, Severe muscular hypotonia, Decreased response to gr... |
ORPHA:488632 |
| Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Dystonia |
OMIM:620245 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Axial hypotonia, Tremor, Hypotonia, Increased circulating very long-chain ... |
OMIM:617916 |
| 8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Congenital hip dislocation, Thoracic scoliosis, Micromelia, Short ne... |
ORPHA:508488 |
| Spinocerebellar Ataxia Type 28 |
|
Limb dystonia, Kinetic tremor, Rigidity, Head tremor, Dystonia, Spasticity |
ORPHA:101109 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Kyphoscoliosis, Abnormal toe morphology, Obesity, Dystonia, Distal lower limb muscle weakness, Pe... |
ORPHA:459033 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Short stature, Small for gestational age, Kyphoscoliosis, Micrognathi... |
OMIM:268400 |
| Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Abn... |
ORPHA:101330 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Lower limb spasticity, Scoliosis, Dystonia, Decreased serum testosterone concentration, Pes cavus |
ORPHA:101006 |
| Leukodystrophy, Hypomyelinating, 21 |
|
Hypogonadotropic hypogonadism, Growth delay, Athetosis, Dystonia, Failure to thrive |
OMIM:619310 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... |
ORPHA:567983 |
| Lowry-Maclean Syndrome |
|
Osteopenia, Craniosynostosis, Micrognathia, Abnormality of the abdominal organs, Osteoporosis, Gr... |
ORPHA:2409 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Limitation of joint mobility, Osteoporosis, Clubbing, Osteolytic defects of the phala... |
OMIM:259100 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Short neck, Triangular shaped distal phalanges of t... |
OMIM:271665 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Dispr... |
ORPHA:2634 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Tremor, Rigidity, Scissor gait, Talipes equinovarus, Dystonia |
OMIM:260300 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Postnatal growth retarda... |
OMIM:620366 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Tremor, Torticollis, Axial hypotonia, Dystonia |
OMIM:618425 |
| Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... |
OMIM:609162 |
| Raynaud-Claes Syndrome |
|
Lower limb spasticity, Dystonia, Hypotonia, Scoliosis, Generalized hypotonia |
OMIM:300114 |
| Sickle Cell Anemia |
|
Pigment gallstones, Osteomyelitis, Abnormality of the spleen, Elevated circulating creatinine con... |
ORPHA:232 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated hepatic transaminase, Resting tremor, Hyperthyroidism, Diabetes mellitus, Elevated circu... |
ORPHA:254892 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Increased serum beta-hexosaminidase, Micrognathia, Metaphyseal widening, Generalized ... |
OMIM:252500 |
| Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Abnormal vertebral ... |
ORPHA:280 |
| Primary Dystonia, Dyt6 Type |
|
Limb dystonia, Torticollis, Generalized dystonia, Blepharospasm, Dystonia, Lingual dystonia, Lary... |
ORPHA:98806 |
| Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... |
ORPHA:352540 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Proportionate short stature, Precocious puberty, Short toe, Obesity, Cone-shaped epip... |
OMIM:619269 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Micrognathia, Short neck, Wide anterior fontanel, Metaphyseal wideni... |
OMIM:263210 |
| Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Short stature, Hypoglycemia, Small for gestation... |
OMIM:307030 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Short stature, Spastic diplegia, Failure to thrive in infancy, Dystonia |
OMIM:619065 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Tremor, Dystonia, Spasticity |
OMIM:615924 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Short stature, Pancreatic fibrosis, He... |
OMIM:232220 |
| Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Short stature, Increased serum beta-hexosaminidas... |
OMIM:252600 |
| Pelizaeus-Merzbacher Disease |
|
Short stature, Failure to thrive in infancy, Cachexia, Joint stiffness, Kyphosis, Hypotonia, Chor... |
ORPHA:702 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Short stature, Hypoglycemia, Kyphoscoliosis, Hip dislocation, Hypotonia, Limb undergr... |
OMIM:618005 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Hypergonadotropic hypogonadism, Elevated circulating pristanic acid concentration, H... |
OMIM:613724 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
| Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Spastic dysarthria, Spasticity, Scoliosis, Dystonia |
ORPHA:314603 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Axial dystonia, Lower limb spasticity, Cachexia, Head titubation, Spastic diplegia, Upper-limb jo... |
ORPHA:300605 |
| Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
| Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ... |
OMIM:187600 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Microgn... |
OMIM:227270 |
| Aicardi-Goutieres Syndrome 6 |
|
Hepatomegaly, Tremor, Rigidity, Splenomegaly, Dystonia, Intrauterine growth retardation |
OMIM:615010 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Pes planus, Congenital hip dislocation, Arachnodactyly, Short stature, Congenital kyp... |
ORPHA:536545 |
| Prolactinoma |
|
Osteopenia, Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormo... |
ORPHA:2965 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Spasticity, Kyphoscoliosis, Dystonia |
OMIM:301107 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Osteopenia, Joint laxity, Arachnodactyly, Short stature, Coxa valga, Metaphyseal widening, Hip di... |
OMIM:620083 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Severe muscular hypotonia, Oculogyric crisis, Hypotonia, Scoliosis, Dystonia, Spasticity |
OMIM:614254 |
| Cerebrotendinous Xanthomatosis |
|
Osteopenia, Resting tremor, Abnormality of the vertebral spinous processes, Cholelithiasis, Hypot... |
ORPHA:909 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Axial hypotonia, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Growth delay, Dy... |
ORPHA:70594 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi... |
ORPHA:175 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shor... |
OMIM:263520 |
| Xylt1-Cdg |
|
Joint laxity, Pes planus, Hepatomegaly, Short stature, Coxa valga, Flared metaphysis, Growth dela... |
ORPHA:370930 |
| Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Plantar hyperkeratosis, Short ... |
ORPHA:221008 |
| Menkes Disease |
|
Bowing of the long bones, Osteomyelitis, Hypoglycemia, Tarsal synostosis, Recurrent fractures, Mi... |
ORPHA:565 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Short stature, Tremor, Splenomegaly, Decreased serum zinc, Hypogonadism, Decreased ... |
OMIM:201100 |
| Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Elevated hepatic transaminase, Methylmalonic acidemia, Axial hypotonia, Hy... |
ORPHA:289504 |
| Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia,... |
ORPHA:1652 |
| Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Tremor, Elevated circulating thyroid-stimulating hormone concentration, Male hypogona... |
ORPHA:91347 |
| Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Axial hypotonia, Ankle flexion contracture, Choreoathetosis, Lower limb hyperton... |
ORPHA:319514 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Rigidity, Spastic tetraplegia, Areflexia of lower limbs, Dystonia, Oromandibular dystonia, Spasti... |
OMIM:615643 |
| Classic Homocystinuria |
|
Elevated hepatic transaminase, Hepatomegaly, Arachnodactyly, Recurrent fractures, Joint stiffness... |
ORPHA:394 |
| Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of... |
OMIM:200610 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short stature, Short long bone, Polydactyly, Scoliosis, Hepatic cysts, Brachydactyly |
OMIM:613819 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Hepatomegaly, Short stature, Intrahepatic cholestasis with episodic jaundice, Conjuga... |
OMIM:211600 |
| Cole-Carpenter Syndrome 2 |
|
Osteopenia, Microretrognathia, Short stature, Recurrent fractures, Postnatal growth retardation, ... |
OMIM:616294 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Choreoathetosis, Spasticity, Axial hypotonia, Dystonia |
OMIM:614249 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Hypoglycemia, Small for gestational age, Hypotonia, Hyperammonemia, Dystonia, In... |
OMIM:614702 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
| Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Increased susceptibility to fractures, Reduced bone m... |
ORPHA:561 |
| Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Short neck, Flexion contracture, Hypertonia, Hypoplasia of the thymus, Generalized ... |
OMIM:264090 |
| Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Facial hypotonia, Elevated circulating alpha-fetopro... |
OMIM:615273 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Short neck, Kyphos... |
ORPHA:958 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Short stature, Avascular necrosis of the capital femoral epiphysis, Osteoporosis, Growth delay, I... |
OMIM:613990 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Short stature, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Ab... |
ORPHA:90796 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Short stature, Osteoporosis, Palmoplantar hyperkeratosis, Hepatic fibrosis, Failure to thrive |
OMIM:613989 |
| Developmental And Epileptic Encephalopathy 29 |
|
Axial hypotonia, Short stature, Rocker bottom foot, Hip dislocation, Blepharospasm, Limb dystonia... |
OMIM:616339 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Short neck, Postnatal growth retardation, Kyphoscoliosis, Elev... |
OMIM:302960 |
| Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Short stature, Micrognathia, Short tibia, Adactyly, Broad first ... |
ORPHA:2751 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased serum pyruvate, Hypoglycemia, Hypotonia, D... |
OMIM:246900 |
| Pyruvate Dehydrogenase Deficiency |
|
Tremor, Osteolytic defects of the middle phalanx of the 4th toe, Hypotonia, Choreoathetosis, Grow... |
ORPHA:765 |
| Primary Sclerosing Cholangitis |
|
Osteopenia, Acute hepatic failure, Hepatic fibrosis, Hypoalbuminemia, Neoplasm of the gallbladder... |
ORPHA:171 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Short stature, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Hypoglycemia, Postna... |
OMIM:616113 |
| Glass Syndrome |
|
Arachnodactyly, Anterior tibial bowing, Facial hypotonia, Short stature, Micrognathia, Hypotonia,... |
OMIM:612313 |
| Huntington Disease-Like 2 |
|
Weight loss, Dystonia |
ORPHA:98934 |
| Harel-Yoon Syndrome |
|
Axial hypotonia, Micrognathia, Talipes equinovalgus, Hypotonia, Hip dysplasia, Scoliosis, Dystoni... |
OMIM:617183 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypoglycemic seizures, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Short stature... |
ORPHA:79259 |
| Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Short stature, Recurrent fractures, Sp... |
ORPHA:1775 |
| Kaya-Barakat-Masson Syndrome |
|
Axial hypotonia, Spastic tetraplegia, Generalized hypotonia, Limb dystonia, Scoliosis, Intrauteri... |
OMIM:619125 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Pes planus, Short femur, Short stature, Talipes, Micrognathia, Short neck, Talipes equinovarus, B... |
OMIM:300990 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Hepatosplenomegaly, ... |
ORPHA:300298 |
| Primary Biliary Cholangitis |
|
Portal hypertension, Abnormality of the thyroid gland, Conjugated hyperbilirubinemia, Jaundice, H... |
ORPHA:186 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Generalized dystonia, Postural tremor, Paresis of extensor muscles of the big toe, P... |
ORPHA:98808 |
| Gaucher Disease Type 2 |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Dystonia, Spasticity |
ORPHA:77260 |
| Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Plantar hyperkeratosis, Short ... |
ORPHA:221016 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:203700 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Hypotonia, Hypertonia, Spastic tetraplegia, Dystonia |
OMIM:619301 |
| Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Short stature, Patchy osteosclerosis, Micrognathia, Postnatal growth retardat... |
ORPHA:2323 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti... |
ORPHA:79345 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... |
ORPHA:2347 |
| Cockayne Syndrome B |
|
Hepatomegaly, Severe short stature, Small for gestational age, Tremor, Postnatal growth retardati... |
OMIM:133540 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Axial hypotonia, Tremor, Choreoathetosis, Growth delay, Transient hyperphenylalaninemia, Dystonia... |
OMIM:612716 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Flexion contracture, Ankle clonus, Congenital contracture, Joint contracture, Scoliosis, Dystonia... |
OMIM:618397 |
| Estrogen Resistance |
|
Osteopenia, Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia... |
OMIM:615363 |
| Fucosidosis |
|
Cervical platyspondyly, Hepatomegaly, Absent/hypoplastic paranasal sinuses, Lumbar hyperlordosis,... |
OMIM:230000 |
| Developmental And Epileptic Encephalopathy 16 |
|
Severe muscular hypotonia, Hypotonia, Dystonia |
OMIM:615338 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Short stature, Recurrent fractures, Reduced bone mineral density, Generalized hypotonia, Scoliosi... |
OMIM:619115 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7 |
|
Hypotonia, Dystonia |
OMIM:620359 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Axial hypotonia, Flexion contracture, Hypotonia, Generalized hypotonia,... |
OMIM:619224 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Hepatomegaly, Femur fracture, Splenomegaly, Growth delay, Os... |
OMIM:612301 |
| Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Squared iliac bones... |
OMIM:258480 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Genu recurvatum, Short neck, Flexion contracture, Tibial bowing, Knee disl... |
OMIM:143095 |
| Thymic Neuroendocrine Tumor |
|
Osteopenia, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Hypercalcemia, Neoplasm o... |
ORPHA:97289 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Pes planus, Congenital hip dislocation, Arachnodactyly, Protrusio aceta... |
OMIM:225400 |
| Osteootohepatoenteric Syndrome |
|
Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Microvesicular hepatic ... |
OMIM:619377 |
| Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Broad long bones, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Spasticity, Hypotonia, Dystonia |
OMIM:617820 |
| Primrose Syndrome |
|
Flexion contracture, Knee flexion contracture, Reduced bone mineral density, Glucose intolerance,... |
OMIM:259050 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Short stature, Recurrent fractures, Osteomalacia, Rickets, Hypophosphatemia, Elevated... |
OMIM:613388 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Short long bone, Vertebral segmentation defect, Talipes equinovarus |
OMIM:618845 |
| Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Decreased body weight, Short stature, Coxa valga... |
OMIM:182250 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... |
ORPHA:1788 |
| Cole-Carpenter Syndrome 1 |
|
Osteopenia, Short stature, Recurrent fractures, Micrognathia, Vertebral compression fracture, Red... |
OMIM:112240 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Axial hypotonia, Small for gestational age, Hyperphenylalaninemia, Tremor, Rigidity, Choreoatheto... |
OMIM:261640 |
| Aicardi-Goutieres Syndrome 2 |
|
Spastic paraplegia, Dystonia |
OMIM:610181 |
| Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... |
ORPHA:470 |
| Myopathy With Extrapyramidal Signs |
|
Joint laxity, Hepatomegaly, Extremely elevated creatine kinase, Elevated hepatic transaminase, El... |
OMIM:615673 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Dystonia, Elevated circulating creatine kinase concentration, Hyperammonemia, Choreoathetosis, Sc... |
OMIM:618416 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Generalized dystonia, Short stature, Hypoplastic scapulae, Micromelia, Femoral retroversion, Kyph... |
ORPHA:79107 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bil... |
OMIM:119800 |
| Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hypotonia, Hypertonia, Spastic tetraplegia, Dystonia |
OMIM:619302 |
| Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Kyphosis, Bifid femur, Increased susceptibi... |
ORPHA:2769 |
| Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Pes cavus, Dystonia |
ORPHA:1171 |
| Pelizaeus-Merzbacher Disease |
|
Generalized dystonia, Short stature, Writer's cramp, Tremor, Head titubation, Spastic paraplegia,... |
OMIM:312080 |
| Omodysplasia 2 |
|
Short humerus, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Hypoplastic distal hume... |
OMIM:164745 |
| Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Lower limb spasticity, Spastic paraplegia, Ankle clonus, Dystonia, Spastic gait |
OMIM:607565 |
| Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Micrognathia, Postnatal growth retardation, Increased circulating free fatt... |
ORPHA:2457 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Bicoronal synostosis, Joint stiffness, Postnatal growth retardation, Hypotonia,... |
OMIM:619184 |
| Spastic Paraplegia 80, Autosomal Dominant |
|
Lower limb spasticity, Spastic paraplegia, Upper limb spasticity, Dystonia, Pes cavus |
OMIM:618418 |
| Developmental And Epileptic Encephalopathy 27 |
|
Spasticity, Axial hypotonia, Hypotonia, Dystonia |
OMIM:616139 |
| Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Severe short stature, Short stature, Limitation of joint m... |
ORPHA:3255 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Tremor, Rigidity, Dystonia |
ORPHA:401901 |
| Thrombocytopenia 6 |
|
Myelofibrosis, Osteoporosis |
OMIM:616937 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Generalized hypotonia, Dystonia |
OMIM:618224 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, ... |
ORPHA:79303 |
| Rothmund-Thomson Syndrome |
|
Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Plantar hyperkeratosis, ... |
ORPHA:2909 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Short stature, Hypogonadotropic hypogonadism, Osteoporosis, Growth delay, Delayed pub... |
ORPHA:2326 |
| Leber Optic Atrophy And Dystonia |
|
Athetosis, Spasticity, Scoliosis, Dystonia |
OMIM:500001 |
| Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Postnatal g... |
ORPHA:263508 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses, Hepatic fibrosis,... |
OMIM:208500 |
| Mucolipidosis Iv |
|
Hypotonia, Spastic tetraplegia, Hypergastrinemia, Generalized hypotonia, Dystonia |
OMIM:252650 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Congenital hip dislocation, Microvesicular hepatic steatosis, Reduced bone mineral density, Shoul... |
ORPHA:404454 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Genu recurvatum, Micrognathia, Flexion contracture, Generalized hypotonia, Dislocated... |
OMIM:130070 |
| Seckel Syndrome 1 |
|
Ivory epiphyses, 11 pairs of ribs, Pes planus, Sandal gap, Abnormal finger flexion crease, Propor... |
OMIM:210600 |
| 16P11.2P12.2 Microduplication Syndrome |
|
Dystonia |
ORPHA:261204 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Axial hypotonia, Head titubation, Increased circulating ferritin concentration, Vestibular arefle... |
ORPHA:3240 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Short stature, Hypocalcemic tetany, Postnatal... |
ORPHA:93325 |
| Leukodystrophy, Hypomyelinating, 20 |
|
Torticollis, Spastic tetraplegia, Hypertonia, Scoliosis, Dystonia |
OMIM:619071 |
| Marbach-Rustad Progeroid Syndrome |
|
Femur fracture, Short stature, Micrognathia, Insulin resistance, Reduced bone mineral density, Gr... |
OMIM:619322 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Short stature, Tremor, Rigidity, Generalized hypotonia, Dystonia |
OMIM:617836 |
| Alternating Hemiplegia Of Childhood 1 |
|
Choreoathetosis, Dystonia |
OMIM:104290 |
| Geleophysic Dysplasia 1 |
|
Short palm, Osteopenia, Hepatomegaly, Short stature, Camptodactyly of finger, Coxa valga, Joint s... |
OMIM:231050 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1... |
ORPHA:77293 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hypoglycemia, Hypotonia, Hyperammonemia, Generalized hypotonia, Dystonia, Hyperalaninemia, Spasti... |
OMIM:614739 |
| Rett Syndrome |
|
Short stature, Cachexia, Kyphosis, Short foot, Scoliosis, Dystonia, Spasticity |
OMIM:312750 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
| Acromelic Frontonasal Dysostosis |
|
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... |
OMIM:603671 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Metaphyseal chondrodysplasia, Spastic paraplegia, Reduced bone mineral density, Large knee |
ORPHA:83629 |
| Christianson Syndrome |
|
Cachexia, Joint hyperflexibility, Dystonia, Arthrogryposis multiplex congenita, Adducted thumb |
ORPHA:85278 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Ulnar deviated club hands, Lateral humeral condyle aplasia, Fibular hy... |
OMIM:164900 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Joint laxity, Os odontoideum, Postnatal growth retardation, Hip dislocation, Hypotoni... |
OMIM:616603 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Broad long bones, Short stature, Abnormal metatarsal morphology, Short neck, Rhizo-meso-acromelic... |
ORPHA:163654 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Microretrognathia, Sacral dimple, Short neck, Tremor, Postnatal growth retardation, T... |
OMIM:300966 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Short stature, Recurrent fractures, Hypolysinemia, Splenomegaly, Increased circulat... |
OMIM:222700 |
| Deafness, Dystonia, And Cerebral Hypomyelination |
|
Intrauterine growth retardation, Failure to thrive, Dystonia |
OMIM:300475 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Choreoathetosis, Lower limb spasticity, Torsion dystonia, Dystonia |
ORPHA:98811 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Small for gestational age, Tremor, Hypotonia, Choreoathetosis, Generali... |
OMIM:312170 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Hepatomegaly, Axial hypotonia, Hypotonia, Growth delay, Generalized hypotonia, Dystonia, Failure ... |
OMIM:618226 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Axial hypotonia, Camptocormia, Hypotonia, Choreoathetosis, Dystonia, Limb hypertonia |
OMIM:606703 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Exaggerated startle response, Short femur, Short stature, Tapered finger, Hyperton... |
OMIM:618367 |
| Cerebrotendinous Xanthomatosis |
|
Osteoporosis, Ankle clonus, Abnormal circulating cholesterol concentration, Cholelithiasis, Spast... |
OMIM:213700 |
| Fibrochondrogenesis 2 |
|
Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Pl... |
OMIM:614524 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipidemia, Biliary tract abnormal... |
ORPHA:1414 |
| Leukodystrophy, Hypomyelinating, 16 |
|
Hypotonia, Choreoathetosis, Hypertonia, Dystonia, Failure to thrive, Intention tremor |
OMIM:617964 |
| Huntington Disease-Like 2 |
|
Rigidity, Weight loss, Action tremor, Dystonia |
OMIM:606438 |
| Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Spasticity, Failure to thrive, Hypotonia, Dystonia |
OMIM:617954 |
| Ataxia With Vitamin E Deficiency |
|
Diabetes mellitus, Tremor, Hypertonia, Scoliosis, Dystonia, Pes cavus |
ORPHA:96 |
| Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Axial hypotonia, Oculogyric crisis, Hypertonia, Generalized hypotonia, Dystonia, Limb hypertonia |
OMIM:617384 |
| Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Axial hypotonia, Spastic tetraparesis, Hyperglutaminemia, Hypotoni... |
OMIM:616299 |
| Arthrogryposis Multiplex Congenita 5 |
|
Micrognathia, Short neck, Flexion contracture, Hand tremor, Hypertonia, Generalized hypotonia, Sc... |
OMIM:618947 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Pes planus, Hepatomegaly, Elevated circulating aspartate aminotran... |
OMIM:619525 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Cachexia, Micrognathia, Abnormal foot morphology, Flexion contracture, 2-... |
OMIM:618186 |
| Marfan Syndrome |
|
Osteopenia, Pes planus, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow ... |
ORPHA:558 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Small for gestational age, Talipes, Flexion contracture, Hypotonia, Dys... |
ORPHA:79243 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
| Progressive Myoclonic Epilepsy With Dystonia |
|
Generalized neonatal hypotonia, Dystonia |
ORPHA:352596 |
| Dpagt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Arachnodactyly, Tremor, Flexion contracture, Osteopo... |
ORPHA:86309 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Axial hypotonia, Severe muscular hypotonia, Choreoathetosis, Growth delay, Dystonia |
OMIM:614932 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Severe short stature, Micromelia, Bowing of the legs, Hypoplastic ilia, Microgn... |
ORPHA:1865 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Thoracolu... |
OMIM:610199 |
| Paroxysmal Kinesigenic Dyskinesia |
|
Athetosis, Writer's cramp, Dystonia |
ORPHA:98809 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodacty... |
OMIM:276820 |
| X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Arachnodactyly, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporo... |
ORPHA:3063 |
| Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Osteoporosis, Rickets, Weight loss, Growth delay, Exocrine pancreatic insufficiency |
ORPHA:309031 |
| Mepan Syndrome |
|
Axial dystonia, Dystonia, Hemidystonia, Hypotonia, Limb dystonia, Spasticity, Failure to thrive, ... |
ORPHA:508093 |
| Alternating Hemiplegia Of Childhood 2 |
|
Choreoathetosis, Dystonia |
OMIM:614820 |
| Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Joint stiffness, Tremor, Kyphosis, Hypotonia, Choreoathetosis, Talipes e... |
OMIM:617988 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Pes planus, Congenital hip dislocation, Postnatal growth retardation, Wide anterior fontanel, Hyp... |
ORPHA:357058 |
| Ataxia-Telangiectasia-Like Disorder |
|
Joint laxity, Short stature, Hypergonadotropic hypogonadism, Absent Achilles reflex, Generalized ... |
ORPHA:251347 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Head titubation, Hypotonia, Abnormality of the vertebral column, Dystonia, Failure to thrive, Abn... |
OMIM:250620 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Decreased plasma free carnitine, Hypotonia, Choreoathetosis, Dystonia, Intrauterine growth retard... |
OMIM:616034 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Reduced bone mineral density, Vertebr... |
ORPHA:2911 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Talipes cavus equinovarus, Hypotonia, Dystonia |
ORPHA:139485 |
| Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Hip contracture, Ankle flexion contracture, Reduced bone mineral density, Knee flexion contractur... |
OMIM:620232 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Dystonia, Spastic tetraparesis, Rigidity, Cogwheel rigidity, Choreoathetosis, Hypertonia, Infanti... |
ORPHA:225154 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypouricemia, Osteomalacia, Elevated circulating aspartate aminotransferase concent... |
OMIM:227810 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Choreoathetosis, Dystonia |
OMIM:125370 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Hypoplastic vertebral bodies, Flared iliac wing... |
ORPHA:79255 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Choreoathetosis, Talipes, Hypotonia, Dystonia |
OMIM:618497 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Severe muscular hypotonia, Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Generalized ... |
OMIM:233910 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Hypercalcemia, Primary hyperparathyroidism, Osteoporosis, Abnormal par... |
ORPHA:143 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Axial hypotonia, Short stature, Tremor, Rigidity, Hypotonia, Choreoathetosis, Dystonia, Spasticity |
OMIM:612438 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Joint laxity, Hepatomegaly, Short stature, Generalized hypotonia, Dystonia, Decreased body weight... |
OMIM:607906 |
| Craniosynostosis With Fibular Aplasia |
|
Craniosynostosis, Fibular aplasia |
OMIM:218550 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Tremor, Abnormal circulating calcium concentration, Rigidity, Athetosis, Dystonia |
OMIM:213600 |
| Alg12-Cdg |
|
Proximal placement of thumb, Micrognathia, Recurrent hypoglycemia, Hypoalbuminemia, Generalized h... |
ORPHA:79324 |
| Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Dystonia, Intraute... |
OMIM:610333 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Premature pubarche, Dystonia, Foot joint contracture, Infantile muscular hypotonia |
ORPHA:457205 |
| Aceruloplasminemia |
|
Torticollis, Diabetes mellitus, Decreased circulating ceruloplasmin concentration, Decreased circ... |
ORPHA:48818 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Increased serum pyruvate, Spastic paraplegia, Spastic tetraplegia, Dystonia, Neonatal hypotonia, ... |
OMIM:245349 |
| Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Stiff neck, Thoracic scoliosis, Micrognathia, Short neck, Femoral bowing, Short long... |
OMIM:617022 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Flexion contracture, Growth delay, Decreased circulating carnitine concentr... |
ORPHA:89842 |
| Birk-Landau-Perez Syndrome |
|
Axial hypotonia, Facial hypotonia, Camptocormia, Failure to thrive in infancy, Hyperkalemia, Incr... |
OMIM:617595 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Micrognathia, Obesity, Choreoathetosis, Hand polydactyly, Scoliosis, Dystonia, ... |
ORPHA:261197 |
| Mitochondrial Myopathy With Lactic Acidosis |
|
Increased serum pyruvate, Spasticity, Hypotonia, Dystonia |
OMIM:251950 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Micrognathia, Missi... |
OMIM:200980 |
| Intellectual Disability, Buenos-Aires Type |
|
Short stature, Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Clinodactyly... |
ORPHA:3079 |
| Chromosome 18P Deletion Syndrome |
|
Toe syndactyly, Short stature, Small for gestational age, Micrognathia, Short neck, Hypotonia, Co... |
OMIM:146390 |
| Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Reduced bone mineral densit... |
ORPHA:848 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Dystonia |
OMIM:611031 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Abnorm... |
ORPHA:2256 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Kyphoscoliosis, Tremor, Hypotonia, Choreoathetosis, Joint contracture, Dystonia, Spasticity |
OMIM:617664 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Facial hypotonia, Overlapping toe, Tapered finger, Hypotonia, Hip dysplasia, Bilateral talipes eq... |
OMIM:617807 |
| Developmental And Epileptic Encephalopathy 92 |
|
Spasticity, Dystonia |
OMIM:617829 |
| Pontocerebellar Hypoplasia, Type 2C |
|
Dystonia |
OMIM:612390 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Spastic tetraplegia, Dystonia |
OMIM:618646 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Joint laxity, Torticollis, Thoracic scoliosis, Kyphoscoliosis, Micrognathia, Metatarsus adductus,... |
ORPHA:300570 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... |
ORPHA:556030 |
| Richards-Rundle Syndrome |
|
Reduced bone mineral density, Hypertonia, Hypergonadotropic hypogonadism, Joint stiffness |
ORPHA:1399 |
| Neurodevelopmental Disorder With Dystonia And Seizures |
|
Spastic tetraplegia, Hypotonia, Athetosis, Dystonia, Intrauterine growth retardation |
OMIM:619922 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Short stature, Flexion contracture, Dystonia, Neonatal hypotonia, Spasticity |
OMIM:252011 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Axial hypotonia, Dystonia |
OMIM:618760 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Exaggerated startle response, Edema of the dorsum of fee... |
ORPHA:521426 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Choreoathetosis, Spasticity, Hypertonia, Dystonia |
ORPHA:71277 |
| Infantile Dystonia-Parkinsonism |
|
Axial hypotonia, Oculogyric crisis, Abnormal circulating carboxylic acid concentration, Hypertoni... |
ORPHA:238455 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatocellular carcinoma, Microvesicular hepatic steatosis, Osteomyelitis ... |
OMIM:256810 |
| Kinsship Syndrome |
|
Osteopenia, Pes planus, Sacral dimple, Short stature, Spastic tetraparesis, Coxa valga, Micrognat... |
OMIM:619297 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Generalized hypotonia, H... |
OMIM:613658 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Increased serum pyruvate, Axial hypotonia, Spastic tetraparesis, Hypotonia, Dystonia, Hyperalanin... |
OMIM:617668 |
| Developmental And Epileptic Encephalopathy 6B |
|
Axial hypotonia, Hypotonia, Choreoathetosis, Scoliosis, Dystonia |
OMIM:619317 |
| Otopalatodigital Syndrome Type 2 |
|
Bowing of the long bones, Increased bone mineral density, Failure to thrive, Tarsal synostosis, S... |
ORPHA:90652 |
| Dystonia 12 |
|
Tremor, Torticollis, Dystonia |
OMIM:128235 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Osteopenia, Toe extensor amyotrophy, Dystonia, Abetalipoproteinemia, Rigidity, Fractures of the l... |
ORPHA:157850 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hyperalaninemia, Hypotonia, Hypertonia, Generalized hypotonia, Dystonia, Intrauterine growth reta... |
OMIM:614654 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Tremor, Rigidity, Dystonia |
OMIM:600116 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Insulin-resistant diabetes mellitus, Dystonia, Progressive extrapyramidal muscula... |
ORPHA:401768 |
| Glutaric Acidemia I |
|
Hepatomegaly, Hypoglycemia, Rigidity, Hypotonia, Spastic diplegia, Opisthotonus, Choreoathetosis,... |
OMIM:231670 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
| 3-Methylglutaconic Aciduria, Type I |
|
Spastic tetraplegia, Athetosis, Dystonia, Spasticity, Failure to thrive |
OMIM:250950 |
| Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Tremor, Rigidity, Increased total... |
OMIM:613280 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Micrognathia, Tremor, Flexion contracture, Hypotonia, Opisthotonus, Choreoathetosis, ... |
OMIM:616271 |
| Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Bi... |
OMIM:609465 |
| Episodic Ataxia, Type 9 |
|
Dystonia |
OMIM:618924 |
| Mohr-Tranebjaerg Syndrome |
|
Tremor, Increased susceptibility to fractures, Spasticity, Dystonia |
OMIM:304700 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Rigidity, Resting tremor, Dystonia |
OMIM:605909 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Axial hypotonia, Oculogyric crisis, Tremor, Hypotonia, Dystonia |
OMIM:618049 |
| Primary Dystonia, Dyt4 Type |
|
Eunuchoid habitus, Torticollis, Generalized dystonia, Upper limb postural tremor, Kyphoscoliosis,... |
ORPHA:98805 |
| Leukodystrophy, Hypomyelinating, 25 |
|
Growth delay, Hypotonia, Dystonia |
OMIM:620243 |
| Spinocerebellar Ataxia Type 2 |
|
Kinetic tremor, Postural tremor, Generalized hypotonia, Dystonia |
ORPHA:98756 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Osteoporosis, Hepatic fibrosis, Palmoplantar hyperkeratosis |
OMIM:224230 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Microretrognathia, Sacral dimple, Toe syndactyly, Tapered finger, Osteoporosis, Growth delay, Low... |
ORPHA:459070 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Hypotonia, Hyperammonemia, Choreoathetosis, Dystonia, Failure to thri... |
ORPHA:79312 |
| Developmental And Epileptic Encephalopathy 1 |
|
Axial hypotonia, Spastic tetraparesis, Choreoathetosis, Growth delay, Hypertonia, Dystonia |
OMIM:308350 |
| Developmental And Epileptic Encephalopathy 86 |
|
Small for gestational age, Generalized hypotonia, Dystonia |
OMIM:618910 |
| Combined Oxidative Phosphorylation Deficiency 35 |
|
Spasticity, Failure to thrive, Generalized hypotonia, Dystonia |
OMIM:617873 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Athetosis, Axial hypotonia, Dystonia |
OMIM:615159 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Tibial... |
OMIM:304120 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Crumpled long bones, Short stature, Protrusio acetabuli, Femoral retroversion, Bowing... |
OMIM:610682 |
| Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Head titubation, Scoliosis, Dystonia, Generalized hypotonia, Progressive spasticity |
ORPHA:527497 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Axial hypotonia, Dystonia |
OMIM:619150 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Hypercalcemia, Primary hyperparathyroidism, Osteoporosis, Abnormal par... |
ORPHA:99880 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tremor, Postural tremor, Rigidity, Dystonia |
ORPHA:314632 |
| X-Linked Creatine Transporter Deficiency |
|
Short stature, Cachexia, Abnormal circulating creatine concentration, Hypotonia, Athetosis, Joint... |
ORPHA:52503 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Lower limb spasticity, Spastic tetraparesis, Spastic paraplegia, Ankle clonus, Dystonia |
OMIM:612319 |
| Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
| Osteopathia Striata With Cranial Sclerosis |
|
Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, Generalized hypotonia, Clinodacty... |
OMIM:300373 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Elevated hepatic transaminase, Small for gestational age, Hypotonia, Hyperammonemia, Choreoatheto... |
OMIM:615471 |
| 17Q11 Microdeletion Syndrome |
|
Osteopenia, Short stature, Bowing of the legs, Precocious puberty, Kyphosis, Osteoporosis, Osteol... |
ORPHA:97685 |
| Glut1 Deficiency Syndrome 2 |
|
Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduced haptoglobin level |
OMIM:612126 |
| Leukodystrophy, Hypomyelinating, 15 |
|
Severe short stature, Athetosis, Dystonia, Spasticity, Failure to thrive, Intention tremor |
OMIM:617951 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Hyperlordosis... |
ORPHA:365 |
| Juvenile Huntington Disease |
|
Rigidity, Weight loss, Oral motor hypotonia, Dystonia |
ORPHA:248111 |
| Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Axial hypotonia, Micrognathia, Generalized hypotonia, Dystonia, Prominent fingertip pads, Scolios... |
OMIM:616875 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Paroxysmal dystonia, Lower limb spasticity, Axial hypotonia, Equinovarus deformity, Progressive s... |
ORPHA:466722 |
| Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Athetosis, Spasticity, Dystonia |
OMIM:612951 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Rigidity, Pill-rolling tremor, Dystonia, Spasticity, Limb hypertonia |
OMIM:615528 |
| Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Pes planus, Generalized hypotonia, Dystonia, Spasticity, Hypothyroidism |
OMIM:613970 |
| 4H Leukodystrophy |
|
Dystonia, Short stature, Decreased response to growth hormone stimulation test, Hypogonadotropic ... |
ORPHA:289494 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Hypotonia, Choreoathetosis, Dystonia, Neonatal hypotonia |
OMIM:245348 |
| Spinocerebellar Ataxia 48 |
|
Tremor, Cachexia, Dystonia |
OMIM:618093 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic steatosis, Hepatomegaly, Ulnar deviation of the 3rd finger, Short stature, Diabetes melli... |
OMIM:616263 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Lower limb spasticity, Hypotonia, Dystonia, Spasticity, Intention tremor |
OMIM:614458 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Tremor, Hypoalbuminemia, Scoliosis, Dystonia,... |
OMIM:208920 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Axial hypotonia, Dystonia, Oculogyric crisis, Spastic tetraparesis, Tremor, Abnormal foot morphol... |
ORPHA:352649 |
| Bilateral Generalized Polymicrogyria |
|
Axial hypotonia, Short stature, Oculogyric crisis, Spastic tetraplegia, Growth delay, Dystonia, S... |
ORPHA:208447 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Axial hypotonia, Hypoglycemia, Tremor, Spastic tetraplegia, Athetosis, Hypertonia, Dystonia, Intr... |
OMIM:617710 |
| Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Choreoathetosis, Spasticity, Hypotonia, Dystonia |
OMIM:618088 |
| Hengel-Maroofian-Schols Syndrome |
|
Foot joint contracture, Short stature, Hypotonia, Dystonia, Spasticity |
OMIM:619641 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia, Sacrococcygeal teratoma |
ORPHA:1757 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Spasticity, Hypotonia, Generalized hypotonia, Dystonia |
OMIM:616277 |
| Cousin Syndrome |
|
Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... |
OMIM:260660 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Short stature, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femo... |
OMIM:615503 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Hypotonia, Hyperammonemia, Choreoathetosis, Growth delay, Dystonia, Pancreatitis |
ORPHA:289916 |
| Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Maternal diabetes, Hemivertebrae, ... |
OMIM:134780 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia |
ORPHA:99657 |
| Woodhouse-Sakati Syndrome |
|
Osteopenia, Dystonia, Streak ovary, Decreased response to growth hormone stimulation test, Insuli... |
ORPHA:3464 |
| Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Abnormality of the distal phalanx of the thumb, Dystonia, Infantile muscular hypotonia, Intention... |
ORPHA:453521 |
| Williams Syndrome |
|
Osteopenia, Elevated circulating creatine kinase concentration, Micrognathia, Tremor, Abnormal fo... |
ORPHA:904 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Splenomegaly, Osteoporosis, Weight loss, Increased susceptibility to fractures |
ORPHA:98849 |
| Oxoglutarate Dehydrogenase Deficiency |
|
Rigidity, Hypotonia, Dystonia |
OMIM:203740 |
| Rett Syndrome |
|
Increased serum pyruvate, Hyperammonemia, Cholecystitis, Scoliosis, Dystonia, Increased serum lep... |
ORPHA:778 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Joint laxity, Exaggerated startle response, Short stature, Decreased serum iron, Abno... |
ORPHA:438213 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Postural tremor, Short stature, Hypogonadotropic hypogonadism, Tremor, Dystonia, Spasticity, Dela... |
OMIM:607694 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Kyphoscoliosis, Dystonia |
OMIM:616684 |
| Leigh Syndrome |
|
Hypotonia, Hepatocellular necrosis, Generalized hypotonia, Dystonia, Spasticity, Failure to thrive |
OMIM:256000 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis, Dystonia, Spasticity, Infantile muscular hypotonia, Limb hypertonia |
ORPHA:500180 |
| Infantile Convulsions And Choreoathetosis |
|
Choreoathetosis, Athetosis, Dystonia |
ORPHA:31709 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Axial hypotonia, Dystonia, Rigidity, Head titubation, Choreoathetosis, Progressive spasticity, Sp... |
OMIM:608804 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Methylmalonic acidemia, Short stature, Small for gestational age, Elevated circulating creatine k... |
OMIM:612073 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Rigidity, Spasticity, Decreased body weight, Dystonia |
OMIM:617672 |
| Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Limb dystonia, Lingual dystonia, L... |
ORPHA:93958 |
| Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Bicarbonaturia, Short stature, Osteomalacia, ... |
OMIM:309000 |
| Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Head titubation, Hypotonia, Dystonia, Failure to thrive, Abnormal vertebral morphology |
ORPHA:88639 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Tremor, Dystonia, Rigidity, Spastic paraparesis |
ORPHA:329284 |
| Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Blepharospasm, Oromandibular dystonia |
OMIM:602124 |
| Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Femoral bowing, Increased suscept... |
OMIM:166200 |
| Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Axial hypotonia, Generalized dystonia, Spastic tetraparesis, Opisthotonus, Choreoathetosis, Dysto... |
OMIM:619653 |
| Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Postaxial hand po... |
OMIM:216360 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Failure to thrive in infancy, Tapered finger, Micrognathia, Clinodactyly of the 5th finger, Dysto... |
OMIM:618829 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Short stature, Craniosynostosis, Growth delay, Dystonia, Neonatal hypotonia, B... |
ORPHA:457193 |
| Cadds |
|
Elevated hepatic transaminase, Cholangitis, Adrenal hypoplasia, Micrognathia, Cholestasis, Increa... |
ORPHA:369942 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ... |
OMIM:615356 |
| Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Hyperalaninemia, Acute hepatic failure, Dystonia |
ORPHA:254881 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Axial hypotonia, Short stature, Hypotonia, Elevated circulating creatine concentration, Hypertoni... |
OMIM:300352 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Dystonia |
ORPHA:240085 |
| Lesch-Nyhan Syndrome |
|
Short stature, Hip dislocation, Hypotonia, Opisthotonus, Choreoathetosis, Hyperuricemia, Dystonia... |
OMIM:300322 |
| Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ... |
ORPHA:2879 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Short stature, Hypogonadotropic hypogonadism, Tremor, Hip dislocation, Growth delay, Dystonia, Sp... |
OMIM:614381 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Short stature, Abnormality of the endocrine system, Thyroiditis, Hepatitis, Hepatospl... |
ORPHA:391487 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Athetosis, Spasticity, Generalized hypotonia, Dystonia |
OMIM:617493 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Writer's cramp, Tremor, Rigidity, Choreoathetosis, Blepharospasm, Decreased circulating ferritin ... |
OMIM:606159 |
| Williams-Beuren Syndrome |
|
Osteopenia, Flexion contracture, Early onset of sexual maturation, Glucose intolerance, Generaliz... |
OMIM:194050 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Short stature, Postaxial polydactyly,... |
OMIM:614091 |
| Methionine Adenosyltransferase I/Iii Deficiency |
|
Hypermethioninemia, Dystonia |
OMIM:250850 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Axial hypotonia, Spasticity, Dystonia, Clinodactyly, Limb hypertonia |
OMIM:618087 |
| Atypical Juvenile Parkinsonism |
|
Resting tremor, Dystonia, Rigidity, Scoliosis, Leg muscle stiffness, Pes cavus |
ORPHA:391411 |
| Non-Acquired Panhypopituitarism |
|
Osteopenia, Pituitary dwarfism, Ectopic posterior pituitary, Short stature, Decreased response to... |
ORPHA:90695 |
| Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Short stature, Spastic paraplegia, Hypotonia, Hyperammonemia, Hypogonadism, Dystoni... |
ORPHA:254913 |
| Pseudo-Torch Syndrome 1 |
|
Microretrognathia, Hepatomegaly, Elevated hepatic transaminase, Axial hypotonia, Splenomegaly, Ja... |
OMIM:251290 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Hypotonia, Dystonia |
ORPHA:382 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Inc... |
ORPHA:251510 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Limb joint contracture, Rigidity, Hypotonia, Blepharospasm, Athetosis, Dystonia, Spasticity, Fail... |
OMIM:617282 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Postural tremor, Short stature, Hypogonadotropic hypogonadism, Spastic dysarthria, Dystonia, Spas... |
ORPHA:447896 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Dystonia, Short stature, Small for gestational age, Failure to thrive in infancy, Flexion contrac... |
OMIM:618891 |
| Developmental And Epileptic Encephalopathy 17 |
|
Athetosis, Dystonia |
OMIM:615473 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Axial hypotonia, Limb hypertonia, Dystonia |
ORPHA:324588 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Pes planus, Tapered finger, Prominent crus of helix, Hypotonia, Scoliosis, Dystonia, Prominent fi... |
OMIM:617804 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Spasticity, Hand tremor, Dystonia |
OMIM:615889 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Congenital hip dislocation, Elevated circulating creatine kinase concentration, Micrognathia, Fra... |
ORPHA:496641 |
| Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Spasticity, Hypotonia, Dystonia |
OMIM:620094 |
| Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Pes planus, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptod... |
ORPHA:284984 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Sandal gap, Short ... |
OMIM:619127 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Short stature, Arachnodactyly, Reduced bone mineral density, Hypertonia, Abnormal hip bone morpho... |
ORPHA:2720 |
| Pontocerebellar Hypoplasia, Type 9 |
|
Axial hypotonia, Facial hypotonia, Hypertonia, Dystonia, Spasticity |
OMIM:615809 |
| Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Hypotonia, Dystonia |
OMIM:619157 |
| Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Pes planus, Tapered finger, Hypotonia, Hip dysplasia, Dystonia, Failure to thrive |
OMIM:616977 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Limb dystonia, Oromandibular... |
ORPHA:420485 |
| Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Axial hypotonia, Choreoathetosis, Dystonia, Spasticity, Limb hypertonia |
OMIM:615905 |
| Dystonia 9 |
|
Choreoathetosis, Spastic paraplegia, Dystonia |
OMIM:601042 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Abnormal circulating carnitine concentration, Choreoathetosis, Progressive spastic quadriplegia, ... |
ORPHA:431361 |
| Cystic Fibrosis |
|
Osteopenia, Elevated hepatic transaminase, Osteoporosis, Abnormality of the liver, Cirrhosis, Fai... |
ORPHA:586 |
| Leukodystrophy, Progressive, Early Childhood-Onset |
|
Appendicular spasticity, Axial hypotonia, Short stature, Dystonia, Joint contracture |
OMIM:617762 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Congenital bilateral hip dislocation, Spastic tetraparesis, Dystonia |
ORPHA:404451 |
| Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Episodic generalized hypotonia, Hypotonia, Arm dystonia, Dystonia, Pes cavus |
OMIM:601338 |
| Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
| Developmental And Epileptic Encephalopathy 67 |
|
Athetosis, Dystonia |
OMIM:618141 |
| Continuous Spikes And Waves During Sleep |
|
Dystonia |
ORPHA:725 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Pituitary dwarfism, Ectopic posterior pituitary, Ectopic anterior pituitary gland, De... |
ORPHA:95494 |
| Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Abnormality of the lower limb, Reduced bone mine... |
ORPHA:1556 |
| Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Choreoathetosis, Spastic paraplegia, Dystonia |
ORPHA:53583 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Cirrhosis, Osteoporosis, Hepatic necrosis |
OMIM:127550 |
| Spinocerebellar Ataxia Type 11 |
|
Dystonia |
ORPHA:98767 |
| Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Lower limb spasticity, Elevated circulating glutaric acid concentr... |
ORPHA:66634 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Short stature, Postnatal growth retardation, Progressive spastic qu... |
ORPHA:309246 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Foot joint contracture, Flexion contracture, Osteoporosis, Growth delay, Decreased se... |
ORPHA:79408 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Severe short stature, Micromelia, Micrognathia, Short long bone, Dispro... |
OMIM:224410 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Tremor, Spasticity, Dystonia |
ORPHA:79263 |
| Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Finger syndactyly, Tarsal synostosis, Micrognathia, Tremor, Preaxi... |
ORPHA:2750 |
| Friedreich Ataxia |
|
Diabetes mellitus, Abnormal foot morphology, Areflexia of lower limbs, Scoliosis, Dystonia, Spast... |
ORPHA:95 |
| Spinocerebellar Ataxia 28 |
|
Lower limb hypertonia, Spasticity, Dystonia |
OMIM:610246 |
| Loeys-Dietz Syndrome 2 |
|
Joint laxity, Syndactyly, Pes planus, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly,... |
OMIM:610168 |
| Hsd10 Disease, Infantile Type |
|
Hypoglycemia, Spastic tetraparesis, Hypotonia, Spastic diplegia, Hyperammonemia, Choreoathetosis,... |
ORPHA:391428 |
| Huntington Disease |
|
Rigidity, Weight loss, Abnormal circulating cholesterol concentration, Dystonia, Decreased body m... |
ORPHA:399 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Tremor, Splenomega... |
ORPHA:667 |
| Dystonia 34, Myoclonic |
|
Torticollis, Writer's cramp, Hand tremor, Head tremor, Dystonia |
OMIM:619724 |
| Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Tremor, Focal dystonia, Ankle clonus, Dystonia, Oromandibular dystonia |
ORPHA:52368 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Spasticity, Talipes equinovarus, Dystonia |
OMIM:618917 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
| Galloway-Mowat Syndrome 1 |
|
Axial hypotonia, Short stature, Small for gestational age, Micrognathia, Hypotonia, Spastic tetra... |
OMIM:251300 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Elevated circulating creatine kinase concentration, Rigidity, Scoliosis, Dystonia, Pes cavus, Mil... |
OMIM:258450 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Axial hypotonia, Elevated circulating aspartate aminotransferase concentration, Spa... |
OMIM:614924 |
| Alg9-Cdg |
|
Microretrognathia, Lower limb spasticity, Torticollis, Ulnar deviation of the hand, Rhizomelia, H... |
ORPHA:79328 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Severe muscular hypotonia, Microvesicular hepatic steatosis, Hypotonia, Hyperammonemia, Opisthoto... |
OMIM:616672 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Head tremor, Craniofaci... |
ORPHA:420492 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio... |
OMIM:236680 |
| Spinocerebellar Ataxia 17 |
|
Rigidity, Dystonia, Intention tremor |
OMIM:607136 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Broad hallux, Hypotonia, Dystonia |
OMIM:614105 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Hepatomegaly, Hyperalaninemia, Hyperglutamatemia, Hypoglycemia, Increased serum... |
ORPHA:3008 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Tremor, Scoliosis, Dystonia, Spastic paraparesis |
OMIM:615157 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Axial hypotonia, Scoliosis, Dystonia, Spasticity, Hip subluxation |
ORPHA:500144 |
| Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Shor... |
OMIM:225500 |
| Triosephosphate Isomerase Deficiency |
|
Tremor, Kyphosis, Jaundice, Splenomegaly, Hypotonia, Prolonged neonatal jaundice, Cholecystitis, ... |
OMIM:615512 |
| Dystonia 26, Myoclonic |
|
Blepharospasm, Torticollis, Laryngeal dystonia, Dystonia |
OMIM:616398 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Axial hypotonia, Choreoathetosis, Hypertonia, Dystonia, Spasticity |
OMIM:618451 |
| Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Micrognathia, Hypotonia, Dystonia, Limb hypertonia |
OMIM:618004 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Tremor, Rigidity, Spastic paraplegia, Leg muscle stiffness, Hypertonia, Dystonia, Sp... |
OMIM:606693 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Tremor, Growth delay, Hypertonia, Dystonia, Action tremor |
OMIM:619738 |
| Folinic Acid-Responsive Seizures |
|
Hypertonia, Spastic tetraparesis, Dystonia |
ORPHA:79097 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Abnormal fingertip morphology, Osteoporosis, Abnormal blood ion concentration, Growth delay, Mitt... |
ORPHA:79404 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Oculogyric crisis, Rigidity, Hypotonia, Opisthotonus, Choreoathetosis, Hypertonia, Dystonia |
ORPHA:13 |
| Pelizaeus-Merzbacher Disease, Classic Form |
|
Axial hypotonia, Spastic tetraparesis, Hypotonia, Titubation, Athetosis, Head tremor, Dystonia, S... |
ORPHA:280219 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Axial hypotonia, Rigidity, Truncal titubation, Opisthotonus, Cogwheel rigidity, Hypertonia, Dysto... |
OMIM:607483 |
| Acromelic Frontonasal Dysplasia |
|
Anterior pituitary hypoplasia, Patellar hypoplasia, Talipes equinovarus, Preaxial foot polydactyl... |
ORPHA:1827 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormality of the pancreas, Abnormal metaphysis morphology, Long fibula, Reduced bone mineral de... |
ORPHA:935 |
| Neuroferritinopathy |
|
Resting tremor, Writer's cramp, Leg dystonia, Focal dystonia, Blepharospasm, Arm dystonia, Dyston... |
ORPHA:157846 |
| Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Axial hypotonia, Flexion contracture, Hypertonia, Talipes equinovarus, Scolios... |
OMIM:619124 |
| Spinocerebellar Ataxia Type 17 |
|
Torticollis, Writer's cramp, Rigidity, Blepharospasm, Dystonia, Spasticity |
ORPHA:98759 |
| 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 |
| Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
| Pmm2-Cdg |
|
Osteopenia, Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concent... |
ORPHA:79318 |
| Stickler Syndrome |
|
Arachnodactyly, Protrusio acetabuli, Short stature, Micrognathia, Cachexia, Kyphosis, Osteoarthri... |
ORPHA:828 |
| Combined Oxidative Phosphorylation Deficiency 57 |
|
Small for gestational age, Nephrogenic diabetes insipidus, Hypotonia, Dystonia, Central diabetes ... |
OMIM:620167 |
| Gabriele-De Vries Syndrome |
|
Hallux valgus, Facial hypotonia, Sandal gap, Micrognathia, Tremor, Long fingers, Hypotonia, Dista... |
OMIM:617557 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Dystonia, Increased serum beta-hexosaminidase, Quadriceps muscle at... |
ORPHA:845 |
| Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Axial hypotonia, Short stature, Diabetes insipidus, ... |
OMIM:225750 |
| Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Severe short stature, Camptodactyly of finger, Micromelia, Micrognathia, Preax... |
ORPHA:2753 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Tremor, Hypergonadotropic hypogonadism, Dystonia |
OMIM:617145 |
| Myhre Syndrome |
|
Short neck, Hypoplastic iliac wing, Vertebral fusion, Short stature, Short toe, 2-3 toe syndactyl... |
OMIM:139210 |
| Huntington Disease-Like 3 |
|
Spasticity, Extrapyramidal muscular rigidity, Flexion contracture, Dystonia |
ORPHA:157946 |
| Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Choreoathetosis, Dystonia, Limb hypertonia |
OMIM:618247 |
| Huntington Disease-Like 3 |
|
Spasticity, Flexion contracture, Dystonia |
OMIM:604802 |
| Boomerang Dysplasia |
|
Absent radius, Severe short stature, Hypoplastic iliac body, Fibular aplasia |
OMIM:112310 |
| Hepatoerythropoietic Porphyria |
|
Osteopenia, Abnormal circulating porphyrin concentration, Splenomegaly, Osteoporosis, Osteolysis |
ORPHA:95159 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Spastic dysarthria, Spasticity, Dystonia, Spastic paraparesis |
ORPHA:313772 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Failure to thrive, Short stature, A... |
ORPHA:209905 |
| Alkaptonuria |
|
Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral density, Arthritis, ... |
ORPHA:56 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Hypoplastic scapulae, Bowing of the legs, Short neck, Splenomegaly, Short toe, Shor... |
OMIM:269860 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Tremor, Spasticity, Dystonia |
ORPHA:542310 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Generalized dystonia, Hyperglutamatemia, Spastic tetraparesis, Low plasma citrulline, Hyperammone... |
OMIM:620358 |
| Holoprosencephaly |
|
Hyponatremia, Diabetes mellitus, Hypoglycemia, Talipes, Failure to thrive in infancy, Short neck,... |
ORPHA:2162 |
| Liang-Wang Syndrome |
|
Axial hypotonia, Dystonia |
OMIM:618729 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Short foot, Small hand, Dystonia |
OMIM:617903 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
OMIM:610978 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia, Dystonia |
ORPHA:163921 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Spasticity, Hypotonia, Dystonia |
OMIM:617854 |
| Rett Syndrome, Congenital Variant |
|
Pes planus, Kyphosis, Athetosis, Talipes equinovarus, Generalized hypotonia, Dystonia, Neonatal h... |
OMIM:613454 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Lumbar hyperlordosis, Progressive flexion contractures, Equinus calcaneus, 2-3 toe ... |
ORPHA:522077 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ... |
OMIM:616878 |
| Congenital Erythropoietic Porphyria |
|
Osteopenia, Abnormal circulating porphyrin concentration, Splenomegaly, Osteoporosis, Osteolysis,... |
ORPHA:79277 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Dystonia |
OMIM:618317 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Spasticity, Dystonia, Spastic paraparesis |
OMIM:614487 |
| Spastic Ataxia 3, Autosomal Recessive |
|
Spasticity, Scoliosis, Dystonia |
OMIM:611390 |
| Ataxia-Telangiectasia |
|
Diabetes mellitus, Short stature, Female hypogonadism, Elevated circulating alpha-fetoprotein con... |
OMIM:208900 |
| Infantile Neuroaxonal Dystrophy |
|
Axial hypotonia, Spastic tetraparesis, Flexion contracture, Progressive spasticity, Dystonia, Spa... |
ORPHA:35069 |
| Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Lower limb spasticity, Lower limb hypertonia, Dystonia, Infantile axial hypotonia, Intention tremor |
ORPHA:438114 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... |
ORPHA:64753 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Rigidity, Dystonia |
OMIM:600795 |
| Leukodystrophy, Hypomyelinating, 9 |
|
Lower limb spasticity, Dystonia, Axial hypotonia, Intention tremor |
OMIM:616140 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Short neck, Prominent fingertip pads, Short stature, Tapered finger, Precocious puberty, Hyperlor... |
OMIM:619950 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
| Ataxia-Oculomotor Apraxia 4 |
|
Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Dystonia, Hyperch... |
OMIM:616267 |
| Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Extrapyramidal muscular rigidity, Axial hypotonia, Dystonia, Short... |
ORPHA:51 |
| Leigh Syndrome |
|
Hyperalaninemia, Dystonia, Multiple joint contractures, Hypoglycemia, Hepatic failure, Spastic di... |
ORPHA:506 |
| Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Gonadotropin deficiency, Hem... |
OMIM:214800 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Axial hypotonia, Scoliosis, Dystonia |
OMIM:617669 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Abnormal curvature of the vertebral column, Hypertonia, Decreased body weight, Hepatic... |
OMIM:619475 |
| Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Spasticity, Hypotonia, Dystonia |
OMIM:619286 |
| Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Generalized hypotonia, Dystonia |
ORPHA:98755 |
| Japanese Encephalitis |
|
Hyponatremia, Stiff neck, Genu recurvatum, Tremor, Elbow flexion contracture, Cogwheel rigidity, ... |
ORPHA:79139 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Micrognathia, Head titubation, Kyphosis, Knee flexion contracture, Bilateral talipes equinovarus,... |
OMIM:619708 |
| Corticobasal Syndrome |
|
Tremor, Dystonia, Progressive extrapyramidal muscular rigidity, Limb dystonia |
ORPHA:454887 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Tremor, Rigidity, Head titubation, Hypotonia, Choreoathetosis, Hypertonia, Dystonia, Spasticity |
OMIM:618877 |
| Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Maternal diabetes, Micrognathia, Postnatal growth retardation, S... |
ORPHA:3404 |
| Aicardi-Goutieres Syndrome 7 |
|
Lower limb spasticity, Hepatic steatosis, Axial hypotonia, Hepatomegaly, Spastic tetraparesis, Sp... |
OMIM:615846 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Rigidity, Resting tremor, Postural tremor, Dystonia |
OMIM:619911 |
| Perry Syndrome |
|
Tremor, Weight loss, Rigidity, Dystonia |
OMIM:168605 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Rigidity, Hand tremor, Dystonia, Spastic paraparesis, Spasticity |
ORPHA:289560 |
| Familial Paroxysmal Ataxia |
|
Torticollis, Dystonia |
ORPHA:97 |
| Ataxia-Telangiectasia-Like Disorder 1 |
|
Lower limb spasticity, Hypotonia, Absent Achilles reflex, Choreoathetosis, Dystonia |
OMIM:604391 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Limb dystonia, Pes planus, Tapered finger, Adducted thumb, Hypotonia, Hand clenching, Congenital ... |
OMIM:616973 |
| Pontocerebellar Hypoplasia, Type 2B |
|
Axial hypotonia, Hypotonia, Opisthotonus, Dystonia, Spasticity, Limb hypertonia |
OMIM:612389 |
| Mogs-Cdg |
|
Hepatomegaly, Thoracic scoliosis, Hepatosplenomegaly, Dystonia, Inappropriate antidiuretic hormon... |
ORPHA:79330 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Axial hypotonia, Abnormal circulating biopterin concentration, Oculogyric crisis, Maturity-onset ... |
ORPHA:1578 |
| Spinocerebellar Ataxia Type 3 |
|
Dystonia |
ORPHA:98757 |
| Mcleod Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:300842 |
| Developmental And Epileptic Encephalopathy 51 |
|
Failure to thrive, Hypotonia, Dystonia |
OMIM:617339 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Hypotonia, Short long bone, Di... |
OMIM:619479 |
| Parkinson Disease 14, Autosomal Recessive |
|
Axial dystonia, Resting tremor, Elevated circulating creatine kinase concentration, Upper limb po... |
OMIM:612953 |
| Cimdag Syndrome |
|
Hepatomegaly, Microvesicular hepatic steatosis, Hypotonia, Hypogonadism, Dystonia, Cholelithiasis... |
OMIM:619273 |
| Developmental And Epileptic Encephalopathy 84 |
|
Axial hypotonia, Opisthotonus, Generalized hypotonia, Dystonia, Spasticity |
OMIM:618792 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ... |
ORPHA:480864 |
| Gabriele-De Vries Syndrome |
|
Hallux valgus, Facial hypotonia, Sandal gap, Craniosynostosis, Micrognathia, Tremor, Decreased re... |
ORPHA:506358 |
| Autosomal Recessive Spastic Paraplegia Type 78 |
|
Progressive spastic quadriplegia, Pes cavus, Progressive spastic paraplegia, Dystonia |
ORPHA:513436 |
| Dyskeratosis Congenita, X-Linked |
|
Cirrhosis, Intrauterine growth retardation, Short stature, Osteoporosis |
OMIM:305000 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Tremor, Dystonia, Rigidity, Spastic paraparesis |
OMIM:300894 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Hypotonia, Hypertonia, Gener... |
OMIM:272750 |
| Amyotrophic Dystonic Paraplegia |
|
Spastic paraplegia, Dystonia |
OMIM:105300 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Elevated circulating creatine kinase concentration, Tremor, Dystonia, Oroma... |
OMIM:614298 |
| Arboleda-Tham Syndrome |
|
Generalized hypotonia, Genu varum, Microretrognathia, Short hallux, Enlarged proximal interphalan... |
OMIM:616268 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Congenital contracture, Dystonia, Opisthotonus |
OMIM:277470 |
| Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Spasticity, Decreased LDL cholesterol concentration, Dystonia |
OMIM:607236 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Dystonia, Severe muscular hypotonia, Tremor, Rigidity, Athetosis, Fasting hypoglycemia, Limb dyst... |
ORPHA:25 |
| Choreoacanthocytosis |
|
Progressive choreoathetosis, Pes cavus, Elevated circulating creatine kinase concentration, Dystonia |
OMIM:200150 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Dystonia, Cogwheel rigidity, Intention tremor |
OMIM:619725 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Dystonia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprot... |
OMIM:606002 |
| Beta-Ureidopropionase Deficiency |
|
Elevated circulating N-carbamyl-beta-alanine concentration, Hypotonia, Scoliosis, Dystonia, Neona... |
OMIM:613161 |
| Machado-Joseph Disease |
|
Rigidity, Spasticity, Absent Achilles reflex, Dystonia |
OMIM:109150 |
| Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Splenomegaly, Hypotonia, Prolonged neonatal jaundic... |
OMIM:257220 |
| Manganese Poisoning |
|
Dystonia, Hypertonia, Postural tremor, Cogwheel rigidity |
ORPHA:306682 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Tremor, Blepharospasm, Dystonia, Progressive extrapyramidal muscular rigidity |
ORPHA:240071 |
| Proximal Renal Tubular Acidosis |
|
Mild postnatal growth retardation, Short stature, Bicarbonaturia, Reduced bone mineral density, G... |
ORPHA:47159 |
| Spinocerebellar Ataxia 21 |
|
Dystonia, Postural tremor, Cogwheel rigidity, Intention tremor |
OMIM:607454 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Broad toe, Brachydactyly, Limited elbow extension and supination, Short stature, Rhizomelia, Sacr... |
OMIM:180700 |
| Metachromatic Leukodystrophy |
|
Hypotonia, Spastic tetraplegia, Gallbladder dysfunction, Cholecystitis, Generalized hypotonia, Dy... |
OMIM:250100 |
| Idiopathic Camptocormia |
|
Abnormal intervertebral disk morphology, Elevated circulating creatine kinase concentration, Oste... |
ORPHA:1320 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... |
OMIM:241080 |
| Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Prolonged neonatal jaundice, Dystonia |
OMIM:618868 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Tremor, Hypotonia... |
OMIM:610505 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Dystonia, Infantile axial hypotonia, Titubation, Infantile muscular hypotonia, Pr... |
ORPHA:225147 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Tremor, Jaundice, Hypotonia, Growth delay, Hypertonia, Generalized hypotonia, Dystonia, Failure t... |
OMIM:617248 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Hypotonia, Hyperhomocystinemia, Generalized hypotonia,... |
OMIM:277410 |
| Early Infantile Epileptic Encephalopathy |
|
Tremor, Precocious puberty, Choreoathetosis, Broad finger, Dystonia, Short finger, Spasticity, Fa... |
ORPHA:1934 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Short stature, Small for gestational age, Hypotonia, Spastic tetraplegia, Hypertonia, Dystonia, F... |
OMIM:620024 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Abnormal vertebral morphology, Short stature, Decreased response to growth hormone stimulation te... |
ORPHA:444077 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Decerebrate rigidity, Generalized hypotonia, Dystonia, Cholecystitis, Spasticity, Intention tremor |
ORPHA:309263 |
| Spinocerebellar Ataxia Type 6 |
|
Blepharospasm, Intention tremor, Dystonia |
ORPHA:98758 |
| Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Blepharospasm, Dystonia |
ORPHA:683 |
| Metachromatic Leukodystrophy, Adult Form |
|
Neoplasm of the gallbladder, Progressive spastic quadriplegia, Decerebrate rigidity, Generalized ... |
ORPHA:309271 |
| Adult-Onset Dystonia-Parkinsonism |
|
Tremor, Rigidity, Focal dystonia, Stiff hip, Abnormal circulating creatine kinase concentration, ... |
ORPHA:199351 |
| Episodic Ataxia, Type 2 |
|
Dystonia |
OMIM:108500 |
| Mercury Poisoning |
|
Tremor, Hypokalemia, Dystonia |
ORPHA:330021 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia, Gout, Dystonia |
ORPHA:79233 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Short stature, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Apl... |
OMIM:617088 |
| Legius Syndrome |
|
Short stature, Hypotonia, Diaphyseal dysplasia, Polydactyly, Scoliosis, Dystonia, Clinodactyly of... |
ORPHA:137605 |
| Parkinsonian-Pyramidal Syndrome |
|
Rigidity, Talipes equinovarus, Dystonia, Spasticity, Intention tremor |
ORPHA:171695 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Dystonia, Cholecystitis, Decerebrate rigidity, Generalized hypotonia, Spasticity |
ORPHA:309256 |
| Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Dystonia, Splenomegaly, Jaundice, Hypotonia, Prolonged neonatal jaundice, Spasticity |
OMIM:607625 |
| Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Axial hypotonia, Splenomegaly, Generalized hypotonia, Dystonia |
OMIM:617050 |
| Alternating Hemiplegia Of Childhood |
|
Facial hypotonia, Tremor, Rigidity, Hypotonia, Choreoathetosis, Dystonia, Skewfoot, Failure to th... |
ORPHA:2131 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypotonia, Dystonia |
OMIM:619167 |
| Spinocerebellar Ataxia Type 8 |
|
Spastic dysarthria, Spasticity, Rigidity, Dystonia |
ORPHA:98760 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Hypotonia, Dystonia |
ORPHA:439218 |
| Young-Onset Parkinson Disease |
|
Tremor, Spasticity, Rigidity, Dystonia |
ORPHA:2828 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Hepatic failure, Low plasma citrulline, Hypertonia, Dystonia, Hyperalaninemia, Spas... |
ORPHA:255210 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Severe short stature, Wide anterior fontanel, Hip dislocation, Dystonia, Intrauteri... |
ORPHA:90349 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Dystonia, Axial hypotonia, Spastic tetraplegia, Generalized dystonia |
OMIM:618321 |
| Developmental And Epileptic Encephalopathy 38 |
|
Dystonia, Axial hypotonia, Limb hypertonia |
OMIM:617020 |
| Parkinson Disease, Late-Onset |
|
Tremor, Resting tremor, Rigidity, Dystonia |
OMIM:168600 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Facial hypotonia, Exaggerated startle response, Severe muscular hypotonia, Dystonia |
ORPHA:438216 |
| Lipoid Proteinosis |
|
Dystonia |
ORPHA:530 |
| Metachromatic Leukodystrophy |
|
Dystonia, Tremor, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hemobilia, Decere... |
ORPHA:512 |
| Machado-Joseph Disease Type 1 |
|
Spasticity, Dystonia |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Spasticity, Dystonia |
ORPHA:276241 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Talipes calcaneovalgus, Hypertonia, Dystonia, Spasticity, Intention tremor |
OMIM:610217 |
| Hereditary Late-Onset Parkinson Disease |
|
Rigidity, Resting tremor, Weight loss, Dystonia |
ORPHA:411602 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Ankle clonus, Increased serum pyruvate, Hypotonia, Dystonia |
OMIM:618222 |
| Machado-Joseph Disease Type 3 |
|
Spasticity, Dystonia |
ORPHA:276244 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Axial hypotonia, Microvesicular hepatic steatosis, Hepatocellular necrosis, Hepatos... |
OMIM:618278 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Spasticity, Generalized hypotonia, Dystonia |
OMIM:616811 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Small for gestational age, Micrognathia, Tremor, Microvesicular hepatic steatosis, ... |
OMIM:220111 |
| Leber Optic Atrophy |
|
Postural tremor, Dystonia |
OMIM:535000 |
| Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Dystonia |
OMIM:277460 |
| Alzheimer Disease 3 |
|
Spastic tetraparesis, Dystonia |
OMIM:607822 |
| Niemann-Pick Disease Type C |
|
Axial dystonia, Lower limb spasticity, Hepatomegaly, Dystonia, Tremor, Splenomegaly, Jaundice, Hy... |
ORPHA:646 |
| Parkinson Disease 1, Autosomal Dominant |
|
Rigidity, Resting tremor, Dystonia |
OMIM:168601 |
| Caribbean Parkinsonism |
|
Rigidity, Action tremor, Dystonia |
ORPHA:97355 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Joint laxity, Dystonia, Sandal gap, Short neck, Long fingers, Hypotonia, Cutaneous syndactyly, Hy... |
OMIM:620330 |
| Parkinson Disease 20, Early-Onset |
|
Tremor, Rigidity, Leg muscle stiffness, Dystonia |
OMIM:615530 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Tremor, Rigidity, Abnormal foot morphology, Blepharospasm, Choreoathetosis, Dystonia, Spasticity |
OMIM:234200 |
| Nmda Receptor Encephalitis |
|
Oculogyric crisis, Rigidity, Neoplasm of the thymus, Opisthotonus, Choreoathetosis, Dystonia |
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 |
