Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology... |
ORPHA:3268 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Waddling gait, Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus cari... |
OMIM:184255 |
Arthrogryposis, Distal, Type 10 |
|
Camptodactyly of finger, Elbow flexion contracture, Plantar flexion contracture, Hamstring contra... |
OMIM:187370 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Knee flexion contracture, Steppage gait, Lower limb muscle weakness, Waddling gait, Scapular wing... |
OMIM:615290 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
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Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde... |
ORPHA:1159 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome |
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Abnormality of lower limb joint, Camptodactyly of finger, Scoliosis |
ORPHA:85164 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
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Overlapping toe, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger |
OMIM:618453 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Micromelia, Osteoarthritis, Short metatarsal, Abnormal carpal morphology, Coxa vara, Pectus carin... |
ORPHA:93351 |
Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Accelerated skeletal maturation, Kyphosis, Abnormal rib mor... |
ORPHA:1354 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
Fetal Akinesia Deformation Sequence 4 |
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11 pairs of ribs, Skeletal muscle atrophy, Rocker bottom foot, Short neck, Kyphosis, Camptodactyl... |
OMIM:618393 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Waddling gait, Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum,... |
OMIM:271650 |
Arthrogryposis, Distal, Type 1B |
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Foot joint contracture, Rocker bottom foot, Distal arthrogryposis, Talipes equinovarus, Camptodac... |
OMIM:614335 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral... |
ORPHA:2635 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Abnormal rib morphology, Abno... |
ORPHA:2790 |
Dyggve-Melchior-Clausen Disease |
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Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... |
OMIM:223800 |
Spinal Muscular Atrophy, Jokela Type |
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Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Calf muscle hypertrophy, Hammertoe, Fas... |
OMIM:615048 |
Hyperekplexia 4 |
|
Inguinal hernia, Kyphoscoliosis, Flexion contracture, Distal arthrogryposis, Hypertonia, Talipes ... |
OMIM:618011 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect |
OMIM:608681 |
Acromesomelic Dysplasia, Maroteaux Type |
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Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnor... |
ORPHA:40 |
Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Short long bone, Stillbirth, Scoliosis, Camptodactyly, Neonatal death, ... |
OMIM:619751 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notc... |
OMIM:608728 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Waddling gait, Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthr... |
OMIM:602111 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... |
OMIM:609616 |
Pseudoachondroplasia |
|
Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... |
OMIM:177170 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
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Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... |
OMIM:617405 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, S... |
ORPHA:168555 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... |
OMIM:184252 |
Arthrogryposis, Distal, Type 1A |
|
Congenital hip dislocation, Single transverse palmar crease, Calcaneovalgus deformity, Knee flexi... |
OMIM:108120 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Flexion contracture, Dysmetria, Lower limb muscle weakness, Distal amyotrophy, Upper limb spastic... |
OMIM:275900 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral absence of pectoralis major muscle, Unilateral hy... |
OMIM:173800 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Genu valgum, Pectu... |
OMIM:609223 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Scapular winging, Pelvic girdle amyotrophy, Ankle flexion contracture, Spinal rigidity, Hyperlord... |
ORPHA:267 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
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Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w... |
OMIM:608940 |
Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Ankylosis, Short foot, Short palm, Clinodactyly, Campt... |
OMIM:615170 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... |
ORPHA:163665 |
Arthrogryposis, Distal, Type 2B3 |
|
Hallux valgus, Ulnar deviation of the hand, Talipes equinovarus, Scoliosis, Camptodactyly, Overla... |
OMIM:618436 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Eng-Strom Syndrome |
|
Camptodactyly of finger, Pectus excavatum, Arthritis, Scoliosis, Brachydactyly |
ORPHA:1937 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... |
OMIM:102510 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... |
OMIM:614135 |
Thoracomelic Dysplasia |
|
Short neck, Hyperlordosis, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shape... |
ORPHA:1803 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
Epilepsy, Progressive Myoclonic, 9 |
|
Short thumb, Gait ataxia, Generalized amyotrophy, Scoliosis, Myoclonus, Action myoclonus, Frequen... |
OMIM:616540 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Dentin... |
OMIM:259440 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Symphal... |
ORPHA:628 |
Perching Syndrome |
|
Joint contracture, Scoliosis, Camptodactyly |
OMIM:617055 |
Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged epiphyses, Metaphyseal widening, Osteoarthritis, Coxa vara, Sclerotic verte... |
OMIM:208230 |
Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp... |
ORPHA:93304 |
Gordon Syndrome |
|
Finger syndactyly, Decreased muscle mass, Camptodactyly of finger, Pectus excavatum, Limitation o... |
ORPHA:376 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... |
OMIM:228520 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro... |
ORPHA:63446 |
Spastic Paraplegia 70, Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ankle clonus, Fasciculations, Scoliosis, Sp... |
OMIM:620323 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Tapered finger, Short neck, Multiple joint dislocation, Hip... |
OMIM:618395 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Autosomal Recessive Spastic Paraplegia Type 45 |
|
Lower limb spasticity, Ankle flexion contracture, Spastic paraplegia, Babinski sign, Knee flexion... |
ORPHA:320396 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspon... |
OMIM:602271 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol... |
ORPHA:166011 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... |
ORPHA:1570 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Enlarged joints, Pectus excavatum, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndac... |
ORPHA:166024 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placeme... |
ORPHA:93267 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Anterior rib cupping, Hyperlordosis, ... |
OMIM:184250 |
Kuskokwim Syndrome |
|
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Joint stiffness, Abnormal form o... |
ORPHA:1149 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... |
OMIM:271630 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Scapular winging, Internally rotated shoulders, Ankle flexion contracture, Flexi... |
OMIM:617468 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Short ribs, Bell-shaped thorax |
OMIM:187750 |
Arthrogryposis, Distal, Type 2B2 |
|
Broad hallux, Sandal gap, Ulnar deviation of the wrist, Tapered finger, Metatarsus adductus, Shor... |
OMIM:618435 |
Autosomal Spastic Paraplegia Type 18 |
|
Hip contracture, Ankle flexion contracture, Spinal rigidity, Neck joint contracture, Inability to... |
ORPHA:209951 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Quadriceps muscle weakness, Inability to walk, Elbow fl... |
ORPHA:206546 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Fibrochondrogenesis 2 |
|
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... |
OMIM:614524 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Short neck, Hemiplegia/hemiparesis, Abnormal sacrum morphology, ... |
ORPHA:2345 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Short neck, Pectus carinatum, Reduced bone mineral density, Hernia, Abnormal d... |
ORPHA:582 |
Developmental And Epileptic Encephalopathy 69 |
|
Inability to walk, Spastic tetraplegia, Congenital contracture, Hyperkinetic movements, Myoclonus... |
OMIM:618285 |
Thoracomelic Dysplasia |
|
Bell-shaped thorax, Short ribs |
OMIM:273740 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaph... |
OMIM:300232 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... |
ORPHA:2319 |
Arthrogryposis, Distal, Type 4 |
|
Osteopenia, 2-5 finger cutaneous syndactyly, Torticollis, Single transverse palmar crease, Kyphos... |
OMIM:609128 |
Whistling Face Syndrome, Recessive Form |
|
Inguinal hernia, Shoulder flexion contracture, Kyphoscoliosis, Short neck, Elbow flexion contract... |
OMIM:277720 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
Arthrogryposis, Distal, Type 1C |
|
Hip contracture, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of finger, Short... |
OMIM:619110 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... |
OMIM:151210 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Short thorax, Osteolysis involving bones of the upper limbs, Flexion contracture, Ost... |
ORPHA:88630 |
Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Gait... |
ORPHA:309169 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... |
OMIM:619598 |
Partington Syndrome |
|
Lower limb spasticity, Flexion contracture, Focal dystonia, Limb dystonia, Camptodactyly |
OMIM:309510 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Joint stiffness, Rigidity, Chorea, Choreoathetosis, Hyperkine... |
ORPHA:98810 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... |
ORPHA:392 |
Corpus Callosum, Agenesis Of |
|
Joint contracture of the hand, Camptodactyly |
OMIM:217990 |
Baker-Gordon Syndrome |
|
Joint laxity, Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Hyperkinetic mov... |
OMIM:618218 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Incoordination, Ataxia, Split hand, Abnormal pyramidal sign, Babinski sign, Intrinsic hand muscle... |
OMIM:616688 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Thoracic scoliosis, Swan neck-like deformities of the fingers, Skeletal muscle atr... |
OMIM:616716 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Hip contracture, Skeletal muscle atrophy, Rocker bottom foot, Lower limb muscle weakness, Ankle f... |
ORPHA:1143 |
Leri Pleonosteosis |
|
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Elbow dislocation, Abnormal finger mor... |
ORPHA:2900 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... |
ORPHA:429 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Short neck, Elbow dislocation, Hypoplas... |
OMIM:264180 |
Schneckenbecken Dysplasia |
|
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat... |
OMIM:269250 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c... |
OMIM:178110 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations, Loss of ... |
OMIM:182980 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, Kyphoscoli... |
ORPHA:1145 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Ataxia, Pectus excavatum, Tremor, Gait ataxia, Hypertonia, Thoracic k... |
OMIM:619092 |
Becker Nevus Syndrome |
|
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis |
OMIM:604919 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... |
OMIM:615633 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Tracheobronchomalacia, Narrow chest, Short phalanx of ... |
ORPHA:56304 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Short neck, Pectus carinatum, Knee flexion contracture, Wrist flexion contracture, Ar... |
OMIM:121050 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Waddling gait, Short metaca... |
OMIM:607326 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
Chromosome 20Q11-Q12 Deletion Syndrome |
|
Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb |
OMIM:614257 |
Wieacker-Wolff Syndrome |
|
Dystonia, Facial palsy, Proximal placement of thumb, Short neck, Hyperlordosis, Kyphosis, Oculomo... |
OMIM:314580 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del... |
ORPHA:85198 |
Femoral-Facial Syndrome |
|
Inguinal hernia, Short femur, Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Co... |
ORPHA:1988 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Camptodactyly Syndrome, Guadalajara Type 2 |
|
Camptodactyly of finger, Short 3rd toe, Pectus excavatum, Cuboid-shaped vertebral bodies, Hip dis... |
ORPHA:1326 |
Desbuquois Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Coxa valga, Short neck, Accelerated skeletal maturation... |
ORPHA:1425 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Distal lower limb amyotrophy, Claw hand deformity, Upper limb amyotrophy, Steppage gait, Fascicul... |
OMIM:606595 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Ragged-red muscle fibers, Int... |
ORPHA:276435 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Abnormal rib morphology, Decreased skull ossificatio... |
ORPHA:2097 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy, Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal ... |
ORPHA:1486 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... |
OMIM:253000 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Short neck, Split hand, Poor coordination, Hand clenching, Clumsiness,... |
OMIM:157900 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... |
OMIM:300863 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Mesomelia, Vertebral segmen... |
ORPHA:2631 |
Becker Nevus Syndrome |
|
Lipoatrophy, Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Upper... |
ORPHA:64755 |
Ghosal Hematodiaphyseal Dysplasia |
|
Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal form of ... |
ORPHA:1802 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Distal amyotrop... |
OMIM:607317 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ... |
ORPHA:337 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Hand muscle atrophy, Thoracic scoliosis, Writer's cramp, Peroneal muscle atrophy, Flexion contrac... |
ORPHA:324442 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Abnormal upper limb epiphysis morphology, Delayed proximal femoral epiphyseal ossifica... |
ORPHA:93311 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Short neck, Metaphyseal widening, Limitat... |
OMIM:224400 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology |
ORPHA:1506 |
Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla... |
OMIM:604864 |
Congenital Disorder Of Glycosylation, Type In |
|
Ataxia, Short neck, Myoclonus, Spasticity, Adducted thumb |
OMIM:612015 |
Aase-Smith Syndrome |
|
Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Aplasia/Hypoplasia of the ... |
ORPHA:916 |
Chst3-Related Skeletal Dysplasia |
|
Barrel-shaped chest, Waddling gait, Short metacarpal, Enlarged joints, Rhizomelia, Kyphoscoliosis... |
ORPHA:263463 |
Holt-Oram Syndrome |
|
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Pectu... |
OMIM:142900 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... |
OMIM:259450 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing,... |
OMIM:620076 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
11 pairs of ribs, Hip contracture, Inguinal hernia, Short neck, Metatarsus adductus, Calcaneovalg... |
OMIM:616266 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, Short neck, Abnormal rib morphology, Narrow chest, Bilateral single tran... |
ORPHA:1703 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... |
ORPHA:536516 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Tremor, Inability to walk, Flexion contracture, Clumsiness, Eyelid myoclonus, Myoc... |
ORPHA:2590 |
20Q11.2 Microdeletion Syndrome |
|
Finger clinodactyly, Adducted thumb, Camptodactyly, Brachydactyly |
ORPHA:444051 |
Lethal Congenital Contracture Syndrome 11 |
|
Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Bilateral talipes equinova... |
OMIM:617194 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... |
OMIM:211350 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Dystonia, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal ... |
ORPHA:391411 |
Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol... |
ORPHA:2876 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Genu valgum, Bell-shaped thorax, ... |
OMIM:255710 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... |
OMIM:225280 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Waddling gait, Congenital hip dislocation, Left ventricular hypertrophy, Kyphoscol... |
OMIM:300280 |
White Forelock With Malformations |
|
Finger syndactyly, Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, ... |
ORPHA:2475 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Ataxia, Kyphoscoliosis, Inability to walk, Babinski sign, Spasticity, Macroglossia, Talipes equin... |
OMIM:616354 |
Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib ... |
ORPHA:2021 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Achondrogenesis Type 1B |
|
Femoral hernia, Micromelia, Short neck, Abnormal enchondral ossification, Short thorax, Abnormal ... |
ORPHA:93298 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Abnormal pelvis bone ossification, Anterio... |
ORPHA:1426 |
Melnick-Needles Syndrome |
|
Omphalocele, Bowing of the long bones, Delayed cranial suture closure, Coxa valga, Short thorax, ... |
ORPHA:2484 |
Diaphanospondylodysostosis |
|
Missing ribs, Short neck, Short thorax, Narrow pelvis bone, Enlarged thorax, Absent or minimally ... |
ORPHA:66637 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Torticollis, Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis, Pseudoarthr... |
OMIM:618155 |
Arthrogryposis, Distal, With Impaired Proprioception And Touch |
|
Broad-based gait, Sandal gap, Arachnodactyly, Inability to walk, Flexion contracture, Upper limb ... |
OMIM:617146 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Short neck, P... |
ORPHA:3082 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Beaded ribs, Multiple ... |
OMIM:166210 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
Spondylocamptodactyly Syndrome |
|
Platyspondyly, Camptodactyly of finger, Scoliosis |
ORPHA:3180 |
Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Congenital hip dislocation, Single transverse palmar crease, Short neck, K... |
OMIM:114300 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Unsteady gait, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, ... |
ORPHA:95434 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... |
ORPHA:2616 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... |
OMIM:265000 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Short neck, Pectus excavatum, Hyperlordosis, Kyphosis, Abnormal rib... |
ORPHA:2522 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Limb dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign... |
OMIM:613135 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Tremor, Areflexia of upper limbs, Int... |
OMIM:619574 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... |
OMIM:602196 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Abnormality of the musculature of the lower limbs, Ataxia, ... |
ORPHA:464282 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Abnormal rib... |
ORPHA:3035 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Oculogyric crisis, Inability to walk, Chorea, Hyperkinetic movements, Myoclonus, Scoliosis, Dysto... |
OMIM:614254 |
Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the... |
OMIM:255800 |
Microtriplication 11Q24.1 |
|
Speech apraxia, Joint dislocation, Short neck, Metatarsus adductus, Limitation of joint mobility,... |
ORPHA:289522 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Abnormal intervertebral disk ... |
ORPHA:2311 |
Boomerang Dysplasia |
|
Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae,... |
ORPHA:1263 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Rhizomelia, Recu... |
OMIM:616229 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Short neck, ... |
OMIM:200600 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, Hemivertebrae, Abnormal f... |
ORPHA:2180 |
Atypical Rett Syndrome |
|
Involuntary movements, Tremor, Kyphosis, Inability to walk, Small hand, Limb myoclonus, Gait atax... |
ORPHA:3095 |
Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Pectus excavatum, Multiple prena... |
OMIM:301014 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Genu valgum, Deviation of ... |
ORPHA:2831 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu... |
OMIM:187600 |
Arthrogryposis, Distal, Type 11 |
|
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... |
OMIM:620019 |
Hypophosphatasia, Childhood |
|
Waddling gait, Craniosynostosis, Bowing of the legs, Myopathy, Rachitic rosary |
OMIM:241510 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Congenital diaphragmatic hern... |
ORPHA:1488 |
Schaaf-Yang Syndrome |
|
Rocker bottom foot, Tapered finger, Kyphosis, Inability to walk, Flexion contracture, Small hand,... |
OMIM:615547 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Delayed skeletal maturation, Abnormal rib morphology, Abnormal epiphysis morphology, Enamel hypop... |
ORPHA:2643 |
Developmental And Epileptic Encephalopathy 37 |
|
Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Gait disturbance, M... |
OMIM:616981 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Low back pain, Scapular winging, Proximal muscle weakness in upper limbs, Centrally nucleated ske... |
OMIM:619733 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Increased intervertebral space, Hypoplastic vertebral bodies,... |
OMIM:224300 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Tremor, Myoclonus, Difficulty walking, Scoliosis, Loss of ambulation |
OMIM:614018 |
Arthrogryposis, Impaired Intellectual Development, And Seizures |
|
Camptodactyly of finger, Hip dislocation, Knee dislocation, Scoliosis, Arthrogryposis multiplex c... |
OMIM:615553 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Down-sloping shoulders, Pectus excavatum, Knee flexion contracture, Camptodactyly, Cubitus valgus... |
OMIM:619694 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Absent rad... |
OMIM:171480 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Cousin Syndrome |
|
Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, ... |
OMIM:260660 |
Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... |
OMIM:615220 |
Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... |
OMIM:253010 |
Atelosteogenesis, Type I |
|
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonatal death, Vert... |
OMIM:108720 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... |
OMIM:602557 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G... |
OMIM:619636 |
Mucolipidosis Iii Gamma |
|
Abnormality of the hand, Short neck, Flat capital femoral epiphysis, Hyperlordosis, Kyphosis, Joi... |
OMIM:252605 |
Autosomal Recessive Spastic Paraplegia Type 48 |
|
Lower limb spasticity, Broad-based gait, Ataxia, Lower limb muscle weakness, Parkinsonism, Myoclo... |
ORPHA:306511 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
11 pairs of ribs, Hyperextensibility of the finger joints, Ataxia, Babinski sign, Dysmetria, Dysd... |
OMIM:618356 |
Epidermolytic Palmoplantar Keratoderma |
|
Interphalangeal joint contracture of finger, Diffuse palmoplantar hyperkeratosis, Clubbing, Palmo... |
ORPHA:2199 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Abnormal dental enamel morphology, Recurrent fract... |
ORPHA:2050 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Arachnodactyly, Long palm, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of... |
ORPHA:2759 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Inguinal hernia, Coxa valga, Osteoporosis, Finger clinodactyly, Patellar subluxation, Bilateral t... |
ORPHA:2958 |
Keipert Syndrome |
|
Joint laxity, Broad hallux, Broad distal phalanx of finger, Camptodactyly, Clinodactyly, Broad th... |
OMIM:301026 |
Weaver Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Accelerated skeletal maturation, Calcan... |
OMIM:277590 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Abnormal morphology... |
ORPHA:2633 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:2234 |
Dystonia 6, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... |
OMIM:602629 |
Joubert Syndrome 18 |
|
Joint laxity, Bowing of the long bones, Trident pelvis, Kyphoscoliosis, Postaxial polydactyly, Ta... |
OMIM:614815 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Femoral hernia, Recurrent fractures, Micromelia, Short neck, Abnormal enc... |
ORPHA:93299 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Hypophosphatasia |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Narrow ... |
ORPHA:436 |
Congenital Myopathy 15 |
|
Osteopenia, Waddling gait, Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased ... |
OMIM:620161 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Accelerated skeletal maturation, Abnormal hand morphology, Metaphyseal widenin... |
ORPHA:93307 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Generalized amyotrophy, Intent... |
ORPHA:2589 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Femoral bowing,... |
OMIM:617952 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Facial dip... |
OMIM:122860 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Skeletal muscle atrophy, Progressive distal muscular atrophy, Facial palsy, Spinal muscular atrop... |
OMIM:159950 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Enlargemen... |
OMIM:600081 |
Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
|
Arachnodactyly, Pectus excavatum, Increased vertebral height, Scoliosis, Camptodactyly, Camptodac... |
OMIM:610474 |
Myoclonus-Dystonia Syndrome |
|
Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus |
ORPHA:36899 |
Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa valga, Osteo... |
OMIM:619131 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Delayed skeletal maturation, ... |
OMIM:617927 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... |
OMIM:271700 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Short palm, Facial palsy, Kyphoscoliosis, Tapered finger, Short neck, Elbow flexion contracture, ... |
OMIM:272430 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... |
ORPHA:3258 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Distal lower limb amyotrophy, Foot osteomyelitis, Hammertoe, Distal amyotrophy, Steppage gait, Fa... |
OMIM:600882 |
Arthrogryposis, Distal, Type 2A |
|
Joint dislocation, Short neck, Knee flexion contracture, Hernia, Spina bifida occulta, Wrist flex... |
OMIM:193700 |
Foxg1 Syndrome |
|
Kyphoscoliosis, Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Scoliosis,... |
ORPHA:561854 |
Arthrogryposis Multiplex Congenita 5 |
|
Short neck, Flexion contracture, Hand tremor, Hypertonia, Scoliosis, Hand clenching, Umbilical he... |
OMIM:618947 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Fasciculations, Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy |
OMIM:271200 |
Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Scoliosis,... |
OMIM:619317 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tapered finger, Tremor, Flexion contracture, Babinski sign, Dysmetria, Gait ataxia, Dista... |
OMIM:616505 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint m... |
OMIM:313400 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Ragged-red muscle fibers, Babinski sign,... |
OMIM:500003 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Neuropathic spinal arthropathy, Broad-based gait, Ataxia, Kyphoscoliosis, Babinski sign, Spastici... |
ORPHA:397709 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Skeletal muscle atrophy, Hand muscle weakness, Hand tremor, Gait ataxia, Ste... |
ORPHA:101085 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Lower limb muscle weakness, Spinal muscular atrophy, Fasciculations, Difficulty walking, Weakness... |
OMIM:615575 |
Recombinant Chromosome 8 Syndrome |
|
Pectus excavatum, Hypertonia, Scoliosis, Camptodactyly, Clinodactyly of the 5th finger, Joint con... |
OMIM:179613 |
Rahman Syndrome |
|
Kyphoscoliosis, Accelerated skeletal maturation, Hypertonia, Talipes equinovarus, Camptodactyly |
OMIM:617537 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, T... |
ORPHA:163966 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Ataxia, Truncal titubation, Kyphosis, Gait ataxia, Gait disturbance, Scoliosis, Ca... |
ORPHA:88628 |
Martsolf Syndrome 2 |
|
Spastic diplegia, Overlapping toe, Camptodactyly of finger, Camptodactyly |
OMIM:619420 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Multiple prenatal fractures, Tibial bowing, Femoral bowing, Decreased skull ossificat... |
OMIM:610915 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... |
ORPHA:85167 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Joint laxity, Inguinal hernia, Omphalocele, Overlapping toe, Single transverse palmar c... |
ORPHA:254528 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Camptocormia, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetos... |
OMIM:606703 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Broad clavicles, Hyperlordosis, Genu valgum, Hip dyspl... |
OMIM:619698 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Single transverse palmar crease, Short neck, Femoral bowing, Tibial bowing, Knee... |
OMIM:601559 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Abnormal form of... |
ORPHA:83468 |
Arthrogryposis, Distal, Type 5D |
|
Decreased muscle mass, Congenital hip dislocation, Limited elbow movement, Short neck, Hyperlordo... |
OMIM:615065 |
Frontometaphyseal Dysplasia 1 |
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Skeletal muscle atrophy, Limited elbow movement, Knee flexion contracture, Increased density of l... |
OMIM:305620 |
Achondrogenesis, Type Ii |
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Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... |
OMIM:200610 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Short neck, Vertebral segmentati... |
OMIM:611209 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Falls, Myoclonus, Truncal ataxia... |
ORPHA:363710 |
Cat-Eye Syndrome |
|
Hip dysplasia, Abnormal rib morphology |
ORPHA:195 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Joint laxity, Arachnodactyly, Pectus excavatum, Pectus carinatum, Talipes equinovarus, Scoliosis,... |
OMIM:301039 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, T... |
OMIM:215140 |
Geroderma Osteodysplasticum |
|
Beaking of vertebral bodies, Hyperextensibility of the finger joints, Osteopenia, Recurrent fract... |
OMIM:231070 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Skeletal muscle atrophy, Flexion contracture of finger, Broad-based gait, Ataxia, Scoliosis, Camp... |
OMIM:609033 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Joint laxity, Short metacarpal, Waddling gait, Camptodactyly of finger, Kyphoscoliosi... |
OMIM:612350 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin clavicles, Delayed skeletal maturation, ... |
ORPHA:93324 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Akinesia, Multiple pterygia, Fl... |
OMIM:253290 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Co... |
ORPHA:958 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Flexion contracture, P... |
OMIM:224690 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Thoracic scoliosis, Micromelia, Generalized joint laxity, Tibial bowing, Narrow chest... |
OMIM:613848 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bilateral single transverse palmar creases, Proximal placement of thumb, Congenital diaphragmatic... |
ORPHA:1120 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Inguinal hernia, Small hypothenar eminence, Dermatoglyphic ridges abnormal, Small thenar eminence... |
OMIM:211960 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Short neck, Clinodactyly of the 5th finger, Sp... |
OMIM:201000 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum... |
OMIM:258850 |
Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Choreoathetosis, Gait disturbance, Falls, Myoclonus, Truncal ataxia, Action myoclonus |
OMIM:616230 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... |
ORPHA:2167 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... |
ORPHA:2347 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Fat... |
ORPHA:329478 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Genu valgum,... |
ORPHA:583 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Rocker bottom foot, Kyphoscoliosis, Coxa valga, Flexion contracture, Osteoporosis, Elbow flexion ... |
OMIM:214150 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Lumbar hyperlordosis, Rhizomelia, Fl... |
OMIM:602471 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Dislo... |
OMIM:182212 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi... |
ORPHA:2019 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... |
OMIM:250220 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Rocker bottom foot, Camptodactyly of finger, Kyphoscoliosis, Adducted thumb, Flared metaphysis, H... |
OMIM:610758 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura... |
ORPHA:93317 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Lateral clavicle... |
OMIM:617895 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Coxa valga, Short tubular bones of the hand, Vertebra... |
ORPHA:85184 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... |
ORPHA:89936 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Hyperlordosis, Abnormal muscle fiber morphology, Delayed s... |
ORPHA:3068 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva... |
ORPHA:2772 |
Combined Saposin Deficiency |
|
Babinski sign, Myoclonus, Fasciculations, Hyperkinetic movements |
OMIM:611721 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Congenital muscular torticollis, Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 v... |
OMIM:118100 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Hammertoe, Steppage gait, Distal amyotrophy, Tip-toe gait, Fasciculations, Foot dorsiflexor weakness |
OMIM:614436 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Spinal muscular atrophy, Hand tremor, Limb ataxia, Congenital contracture, Distal amyotro... |
OMIM:607596 |
Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Knee dislocation, Short tibia, Vertebral hypoplasia, Abnormality... |
ORPHA:56305 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... |
ORPHA:2911 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Ataxia, Tremor, Kyphosis, Delayed skeletal maturation, Short thorax, Slu... |
ORPHA:812 |
Czech Dysplasia |
|
Narrow femoral neck, Waddling gait, Short metacarpal, Flat capital femoral epiphysis, Short toe, ... |
OMIM:609162 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Arachnodactyly, Ataxia, Short neck, Calcaneovalgus deformity, Flexion contracture, Hypertonia, Ta... |
ORPHA:562528 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypoplasia of the odontoid proces... |
OMIM:252500 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx... |
ORPHA:2839 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... |
OMIM:272460 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Lower limb spasticity, Postural tremor, Ataxia, Head titubation, Flexion contracture, Hoffmann si... |
OMIM:615491 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Short palm, Ataxia, Ankle flexion contracture, Tremor, Small hand, Upper limb undergrowth, Knee f... |
OMIM:608799 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:312150 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contr... |
OMIM:271640 |
Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Delayed skeletal maturation, S... |
OMIM:612921 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal... |
OMIM:144750 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... |
ORPHA:1517 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Craniosynostosis, Split hand, Abnormal rib morphology, Brachydactyly |
ORPHA:2145 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Decreased muscle mass, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the ver... |
ORPHA:73230 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Lower limb spasticity, Exaggerated startle response, Overlapping toe, Ataxia, Spastic tetraparesi... |
OMIM:618598 |
Catifa Syndrome |
|
Inguinal hernia, Gait disturbance, Camptodactyly |
OMIM:618761 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Hereditary Hyperekplexia |
|
Joint dislocation, Ataxia, Joint stiffness, Hiatus hernia, Rigidity, Hip dislocation, Hypertonia,... |
ORPHA:3197 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia |
OMIM:125370 |
Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Inability to walk, Myoclonus, Difficulty walking, Dystonia, Spasticity |
OMIM:617829 |
Cleidocranial Dysplasia |
|
Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Decreased sku... |
ORPHA:1452 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Wormian bones, Decreased fibul... |
OMIM:616897 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Enlargemen... |
OMIM:241530 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Delayed skeletal maturation, Fibular hypoplasi... |
OMIM:612447 |
Hypermanganesemia With Dystonia 2 |
|
Tremor, Scissor gait, Opisthotonus, Limb dystonia, Parkinsonism, Clumsiness, Gait disturbance, Sc... |
OMIM:617013 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Inguinal hernia, Arachnodactyly, Short neck, Kyphosis, Radioulnar synostos... |
OMIM:248700 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Hypoplastic pubic bone, Flared me... |
ORPHA:93346 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl... |
OMIM:613091 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Rigidity, Inability to walk, Athetosis, Gait disturbance, Myoclonus, Scoliosis, Loss of ambulation |
OMIM:618241 |
Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathetosis, Upper limb m... |
ORPHA:225154 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Scoliosis, Eyelid myoclonus |
OMIM:616421 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Abnormality... |
ORPHA:98763 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Abnormal f... |
ORPHA:175 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni... |
OMIM:205100 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Reduced bone mineral density, Hypoplastic... |
ORPHA:93315 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... |
OMIM:613686 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Hyperlordosis, Fatty replacement of skeletal muscle, Osteolysis, Increased suscept... |
ORPHA:52430 |
Imagawa-Matsumoto Syndrome |
|
Accelerated skeletal maturation, Large hands, Camptodactyly, Umbilical hernia, Clinodactyly |
OMIM:618786 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Postural tremor, Oculogyric crisis, Ataxia, Parkinsonism, Rigidity, Babinsk... |
ORPHA:101150 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs |
ORPHA:66630 |
Pontine Tegmental Cap Dysplasia |
|
Ataxia, Facial palsy, Head titubation, Rib fusion, Hemivertebrae, Dysmetria, Ankle clonus, Scolio... |
OMIM:614688 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Ataxia, Head titubation, Truncal ataxia, Dysmetria, Abnormality of the vertebral column, Myoclonu... |
OMIM:250620 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia |
OMIM:618497 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Knee flexion contracture, Distal arthrogryposis, Talipes equinovarus, Camptodactyly, Oculomotor a... |
OMIM:618198 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
Campomelia, Cumming Type |
|
Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Abnormal thorax morphology, ... |
ORPHA:1318 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Joint dislocation, Osteomalacia, Recurrent fractures, Abnormal thorax morphology, Genu varum, Bon... |
ORPHA:93160 |
Developmental And Epileptic Encephalopathy 11 |
|
Hyperkinetic movements, Spastic tetraplegia |
OMIM:613721 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Ataxia, Oculogyric crisis, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia,... |
ORPHA:13 |
Stiff Skin Syndrome |
|
Lipodystrophy, Elbow flexion contracture, Limited shoulder movement, Knee flexion contracture, Ca... |
OMIM:184900 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Ataxia, Tapered finger, Inability to walk, Dysmetria, Spasticity, Scoliosis, Camptodactyly, Clino... |
OMIM:619576 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Babinski sign, Limb ataxia, Gait ataxia, Dysmetria, Fasciculations, Truncal ataxia, Intention tremor |
OMIM:613728 |
Braddock-Carey Syndrome 1 |
|
Hyperlordosis, Small hand, Spastic diplegia, Talipes equinovarus, Camptodactyly, Clinodactyly, En... |
OMIM:619980 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... |
ORPHA:83 |
Epilepsy, Progressive Myoclonic, 11 |
|
Rigidity, Ataxia, Myoclonus, Intention tremor |
OMIM:618876 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost... |
OMIM:264700 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... |
OMIM:606777 |
Basilicata-Akhtar Syndrome |
|
Short palm, Single transverse palmar crease, Short neck, Short foot, Progressive spasticity, Camp... |
OMIM:301032 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly |
ORPHA:2956 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Paroxysmal dystonia, Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Kypho... |
ORPHA:466722 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... |
OMIM:259600 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... |
ORPHA:314632 |
Facial Onset Sensory And Motor Neuronopathy |
|
Skeletal muscle atrophy, Fasciculations |
ORPHA:85162 |
Congenital Myopathy 22B, Severe Fetal |
|
Thoracic scoliosis, Short neck, Flexion contracture, Generalized amyotrophy, Waddling gait, Scapu... |
OMIM:620369 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Delayed skeletal matu... |
OMIM:244460 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Broad long bones, Coxa valga, Cubitus valgus, Flared metaphysis, Genu valgum, Scleros... |
OMIM:269300 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Joint laxity, Tremor, Hyperkinetic movements, Gait disturbance, Spasticity, Hip subluxation |
OMIM:300957 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Short neck, Pectus carinatum, Abnormal calcification of the carpa... |
OMIM:271665 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hallux valgus, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Single transverse palmar crease, Pe... |
OMIM:613385 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femoral bowing, Kn... |
OMIM:600920 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Incoordination, Ataxia, Abnormality of the hand, Short neck, Spastic paraparesis, Mac... |
ORPHA:369891 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnor... |
ORPHA:1427 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti... |
ORPHA:79345 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Short neck, Kyphosis, Osteoporosis,... |
ORPHA:3409 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... |
ORPHA:71277 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Micromelia, Short neck, Coxa vara, Pectus carinatum, Hypertonia, Wrist f... |
ORPHA:800 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Thoracic scoliosis, Overlapping fingers, Torticollis, Stiff neck, Short neck, Increa... |
OMIM:617022 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Speech apraxia, Ataxia, Hyperlordosis, Tremor, Inability to walk, Chorea, Truncal ... |
OMIM:615356 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Avascular necrosis of the capital femoral epiphysis, Arthrogryposis multiplex congenita, Overlapp... |
OMIM:614262 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Spasticity |
OMIM:615924 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion... |
OMIM:618022 |
Renpenning Syndrome |
|
Skeletal muscle atrophy, Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abnormal r... |
ORPHA:3242 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, ... |
ORPHA:300605 |
Corticobasal Syndrome |
|
Limb dystonia, Speech apraxia, Parkinsonism, Akinesia, Limb apraxia, Tremor, Involuntary movement... |
ORPHA:454887 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Pla... |
OMIM:616294 |
Pontocerebellar Hypoplasia, Type 1D |
|
Multiple joint contractures, Short neck, Flexion contracture, Generalized amyotrophy, Tongue fasc... |
OMIM:618065 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... |
ORPHA:397946 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Spatulate ribs, Spasticity, Pectus carinatum, Hypoplastic vertebral... |
ORPHA:79255 |
Melnick-Needles Syndrome |
|
Anterior concavity of thoracic vertebrae, Tibial bowing, Narrow chest, Cone-shaped epiphyses of t... |
OMIM:309350 |
Orofaciodigital Syndrome Type 3 |
|
Pectus excavatum, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum, Thoracic... |
ORPHA:2752 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Talipes equinovarus, Joint hypermobility, Camptodactyly |
OMIM:617333 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Increased connective tissue, Multiple prenatal fractures, ... |
ORPHA:171430 |
Autosomal Recessive Ataxia, Beauce Type |
|
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Kyphosis, Babinski sign, Dysmetria, Clums... |
ORPHA:88644 |
Xylt1-Cdg |
|
Joint laxity, Joint dislocation, Coxa valga, Accelerated skeletal maturation, Flared metaphysis, ... |
ORPHA:370930 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Omphalocele, Thoracolumbar scoliosis, Preaxial hand polydactyly, Cervical ribs, Talipes equinovar... |
OMIM:601389 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:615362 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Joint laxity, Short fourth metatarsal, Sacral dimple, Wide cranial sutures, Tracheoma... |
OMIM:601390 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Frontonasal Dysplasia 1 |
|
Frontal cutaneous lipoma, Pericallosal lipoma, Postaxial hand polydactyly, Pectoral muscle hypopl... |
OMIM:136760 |
Mucopolysaccharidosis, Type Iiia |
|
Inguinal hernia, Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Umbil... |
OMIM:252900 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Decreased muscle mass, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Dentinog... |
OMIM:616507 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
Cartilage-Hair Hypoplasia |
|
Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia ... |
OMIM:250250 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Speech apraxia, Congenital diaphragmatic hernia, Craniosynostosis, Rib fusion, Choreoathetosis, H... |
ORPHA:261197 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Cerebral palsy, Camptodactyly of finger, Short neck, Limitation of ... |
ORPHA:93473 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Abnormality of the knee, Congenital diaphragmatic hernia, Short neck, Missing ribs, ... |
ORPHA:1834 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr... |
OMIM:143095 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Anterior rib cupping, Short neck, Hypoplasia of the odontoid proces... |
OMIM:258480 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Aplasia of the abdominal w... |
ORPHA:2970 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Narrow chest, Abnormality of the wrist, Abnormal vertebral m... |
ORPHA:95699 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Single transverse palmar crease, Tremor, Hip dysplasia, Hyperkinetic movements, Upper limb spasti... |
ORPHA:457240 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Limb apraxia, Involuntary movements, Tremor, Rigidi... |
ORPHA:240103 |
Spinocerebellar Ataxia Type 2 |
|
Kinetic tremor, Postural tremor, Parkinsonism, Chorea, Gait ataxia, Progressive cerebellar ataxia... |
ORPHA:98756 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Thin ribs, Slender long bone, Decreased calvarial ossification, Arthrogryposis ... |
OMIM:618265 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Type 2 muscle fiber predo... |
OMIM:619028 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Loss of ambulation, Ataxia, Myoclonus |
OMIM:600143 |
Lymphangiectasia, Intestinal |
|
Stillbirth, Prominent floating ribs |
OMIM:152800 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Skeletal muscle atrophy, Ataxia, Flexion contracture, Loss of ability to walk in first decade, Hy... |
OMIM:300243 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... |
OMIM:609945 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ataxia, Ragged-red muscle fibers, Myopathy, Myoclonus, Spasticity |
OMIM:545000 |
Hypophosphatasia, Infantile |
|
Micromelia, Bowing of the legs, Craniosynostosis, Vertebral clefting, Increased susceptibility to... |
OMIM:241500 |
Radio-Renal Syndrome |
|
Micromelia, Short neck, Hypoplasia of the radius, Abnormal rib morphology, Abnormality of the elb... |
ORPHA:3015 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Limitation of joi... |
ORPHA:96061 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia, Br... |
OMIM:607136 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... |
ORPHA:2769 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Ataxia, Unsteady gait, Choreoathetosis, Gait imbalance, Myoclonus, Frequent falls |
OMIM:301020 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Inguinal hernia, Rhizomelia, Flexion contracture, Epiphyseal stippling... |
OMIM:222765 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Bone pain, Myoclonus, Erlenmeyer flask deformity of the femurs, Intention tremor |
OMIM:610539 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Increased intramyocellular lipid droplets, Dy... |
OMIM:619065 |
Stevenson-Carey Syndrome |
|
Hip dysplasia, Joint contracture of the hand, Scoliosis, Camptodactyly |
OMIM:611961 |
Pyknoachondrogenesis |
|
Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac bones, Micromelia, Short t... |
ORPHA:3003 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal sclerosis, Enlarge... |
OMIM:260400 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Joint laxity, Inguinal hernia, Persistent open anterior fontanelle, Arachnodactyly, Facial hypoto... |
OMIM:615539 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Lower limb spasticity, Babinski... |
OMIM:613954 |
Dystonia 15, Myoclonic |
|
Myoclonus, Writer's cramp, Dystonia |
OMIM:607488 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... |
OMIM:600002 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus, Loss of ambulation |
OMIM:256731 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Involuntary movements, Chorea, Athetosis, Hyperkinetic movements, Dystonia, Spasticity |
OMIM:617493 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Truncal ataxia, Myopathy, Hyperkinetic movements, Limb-girdle muscular dystrophy, Difficu... |
ORPHA:369847 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the vertebral bodies, ... |
ORPHA:1788 |
Developmental And Epileptic Encephalopathy 89 |
|
Omphalocele, Dystonia, Flexion contracture, Spasticity, Hypertonia, Hyperkinetic movements, Talip... |
OMIM:619124 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Talipes cavus equinovarus, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclo... |
ORPHA:139485 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Kyphoscoliosis, Missing ribs, Conge... |
OMIM:200980 |
W Syndrome |
|
Hypoplasia of the ulna, Radial bowing, Metatarsus adductus, Elbow dislocation, Spasticity, Campto... |
ORPHA:2804 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, D... |
OMIM:249420 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Skeletal muscle atrophy, Congenital muscular torticollis, Arachnodactyly, Camp... |
ORPHA:2215 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Joint stiffness, Tremor, Proximal amyotrophy, Upper limb muscle weakness, Calf mus... |
ORPHA:209335 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co... |
ORPHA:249 |
Meckel Syndrome, Type 10 |
|
Sacral dimple, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, Po... |
OMIM:614175 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Writer's cramp, Hand tremor, Myoclonus |
OMIM:608105 |
Sandestig-Stefanova Syndrome |
|
Prominent metopic ridge, Rocker bottom foot, Short neck, Camptodactyly, Clinodactyly, Bilateral s... |
OMIM:618804 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Short neck, Flexion contracture, Hemivertebrae, Tibial bowing, N... |
ORPHA:96334 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Clinodactyly of the 5th finge... |
OMIM:300963 |
Split-Hand/Foot Malformation 3 |
|
Split hand, Camptodactyly |
OMIM:246560 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Flexion contracture, F... |
OMIM:207410 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Inguinal hernia, Broad hallux, 1-3 toe syndactyly, Accelerated skeletal mat... |
OMIM:175700 |
Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short h... |
ORPHA:90652 |
Brittle Cornea Syndrome |
|
Hallux valgus, Arachnodactyly, Osteoporosis, Corneal scarring, Increased susceptibility to fractu... |
ORPHA:90354 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Pectus carinatu... |
OMIM:253220 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Creutzfeldt-Jakob Disease |
|
Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia |
OMIM:123400 |
Catel-Manzke Syndrome |
|
Joint laxity, Short humerus, Short metacarpal, Short femur, Inguinal hernia, Single transverse pa... |
OMIM:616145 |
13Q12.3 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Kyphoscoliosis, Hip dysplasia, Camptodactyly, Hemihypotrophy of ... |
ORPHA:412035 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Arachnodactyly, Kyphoscoliosis, Pectus excavatum, Metatarsus adductus, Calcaneovalgus deformity, ... |
OMIM:612513 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Poor coordination, Cone-shaped epiphys... |
ORPHA:420794 |
Pontocerebellar Hypoplasia, Type 1E |
|
Elbow flexion contracture, Myoclonus, Knee flexion contracture |
OMIM:619303 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Short neck, Lateral ... |
ORPHA:3144 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipos... |
OMIM:248370 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Pectus excavatum, Triphalangeal th... |
ORPHA:957 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Myocl... |
ORPHA:79263 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cerebellar ataxia, Myoc... |
OMIM:607346 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:162350 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Hernia, Beaking o... |
OMIM:252930 |
Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Postaxial foot polydactyly,... |
OMIM:225500 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Rhizomelia, Protru... |
OMIM:610682 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ata... |
ORPHA:248111 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Ovoid thoracolumbar vertebrae, Dense calvaria, Joint stiffness |
OMIM:252920 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand |
OMIM:603543 |
Valinemia |
|
Hyperkinetic movements |
OMIM:277100 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Vertebral fusion, Inguinal hernia, Down-sloping shoulders, Pectus excavatum, Metatars... |
OMIM:227330 |
Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Dy... |
ORPHA:352596 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Ataxia, Myoclonus |
OMIM:208700 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Spasticity, Flexion contracture, Abnormal pyramidal sign, Thin ribs |
OMIM:614833 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregular, rachitic-like metaphyse... |
ORPHA:289157 |
Osteopathia Striata With Cranial Sclerosis |
|
Osteopathia striata, Craniofacial osteosclerosis, Clinodactyly of the 5th finger, Broad ribs, Spi... |
OMIM:300373 |
Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Metacarpophalangeal... |
ORPHA:3250 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Congenital diaphragmatic hernia, Aplasia/Hypoplasi... |
ORPHA:1647 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Skeletal muscle atrophy, Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Micromelia, Abnormal tibia morphology, Flexion contracture, Bone p... |
ORPHA:666 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Upp... |
ORPHA:254343 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Limb joint contracture, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsines... |
OMIM:617282 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Long clavicles, Diastasis recti, Kyphoscoliosis, Coxa valga, Long f... |
OMIM:608149 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Dystonia |
OMIM:619651 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Dystonia, Chorea, Myoclonus, Difficulty walking, Facial myokymia, Limb hypertonia |
ORPHA:324588 |
Peho-Like Syndrome |
|
Myoclonus, Tapered finger |
OMIM:617507 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Multiple pterygia, Symphalangism affecting the phalanges of the hand, Ab... |
ORPHA:2990 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... |
ORPHA:2491 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Delayed skeletal maturation, Abnormal rib morphology, Abnormal form of th... |
ORPHA:52 |
Gm1-Gangliosidosis, Type I |
|
Inguinal hernia, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bod... |
OMIM:230500 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Skeletal muscle atrophy, Congenital hip dislocation, Ataxia, Pectus excavatum, Fractures of the l... |
ORPHA:496641 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Limb joint contracture, Ankle flexion contracture, Short neck, Craniosynostosis, Spastic tetrapar... |
ORPHA:284417 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia |
OMIM:233910 |
Spinocerebellar Ataxia Type 36 |
|
Skeletal muscle atrophy, Ataxia, Babinski sign, Limb myoclonus, Dysmetria, Hand tremor, Limb atax... |
ORPHA:276198 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Spastic paraparesis |
ORPHA:391417 |
Omodysplasia 2 |
|
Short humerus, Anterior wedging of T11, Fibular hypoplasia, Hypoplastic distal humeri, Limited el... |
OMIM:164745 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Polyarticular arthropathy, Knee os... |
ORPHA:2848 |
Trisomy 13 |
|
Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morpho... |
ORPHA:3378 |
Hunter-Macdonald Syndrome |
|
Epiphyseal dysplasia, Inguinal hernia, Metatarsus adductus, Cubitus valgus, Delayed skeletal matu... |
OMIM:611962 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Hypoplasia of the mus... |
ORPHA:2463 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Arachnodactyly, Sandal gap, Congenital diaphragmatic hernia, Pectus excavatum, Kyphosis, Scoliosi... |
OMIM:617602 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Slurred speech, Dysmetria, Leg muscle stiffness, Limb ataxia, Progressive cerebellar ataxia, Prog... |
ORPHA:284289 |
Distal Triplication 15Q |
|
Arachnodactyly, Craniosynostosis, Kyphosis, Flexion contracture, Abnormal sternum morphology, Sco... |
ORPHA:314588 |
Myhre Syndrome |
|
Short neck, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Ataxia, Short toe, Generalized ... |
OMIM:139210 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Ataxia, Dysmetria, Distal amyotrophy, Dysdiadochokinesis, Myoclonus, Increased in... |
OMIM:614487 |
Sandhoff Disease, Juvenile Form |
|
Skeletal muscle atrophy, Incoordination, Limb joint contracture, Ataxia, Abnormal pyramidal sign,... |
ORPHA:309162 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Ragged-red muscle fibers, Flexion contracture, Truncal ataxia, Babinski sign, Left ventri... |
OMIM:252011 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Leukodystrophy, Hypomyelinating, 10 |
|
Skeletal muscle atrophy, Arachnodactyly, Inability to walk, Babinski sign, Hyperkinetic movements... |
OMIM:616420 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
Spinocerebellar Ataxia 2 |
|
Ataxia, Postural tremor, Parkinsonism, Rigidity, Unsteady gait, Babinski sign, Dysmetria, Limb at... |
OMIM:183090 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Broad cl... |
OMIM:304150 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Congenital hip dislocation, Chorea, Reduced bone mineral density, Shoulder dislocation, Delayed s... |
ORPHA:404454 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
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Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... |
ORPHA:2519 |
Robinow Syndrome, Autosomal Recessive 1 |
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Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... |
OMIM:268310 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hypertonia, Flexion contracture, Rocker bottom foot, Camptodactyly |
OMIM:604273 |
Developmental And Epileptic Encephalopathy 40 |
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Choreoathetosis, Spasticity, Myoclonus, Spastic tetraparesis |
OMIM:617065 |
Basal Cell Nevus Syndrome 1 |
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Short distal phalanx of the thumb, Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Palm... |
OMIM:109400 |
Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Torticollis, Small hypothenar eminence, Short neck, Delayed skeletal maturation, Absent phalangea... |
OMIM:611929 |
Monomelic Amyotrophy |
|
Tremor, Distal upper limb amyotrophy, Abnormality of the upper limb, Fasciculations |
ORPHA:65684 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Clinodactyly, Single transverse palmar crease, Brachydactyly, Camptodactyly |
OMIM:613604 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasi... |
OMIM:276820 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Spasticity, Flexion contracture, Ataxia, Myoclonus |
OMIM:256730 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Hypoplasia of the ulna, Lateral clavicle hook, Early ossification of capital femoral epiphyses, C... |
OMIM:208500 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Decreased muscle mass, Arachnodactyly, Recurrent fractures, Kyphoscoliosis, Involuntary... |
ORPHA:3063 |
Spinocerebellar Ataxia Type 1 |
|
Skeletal muscle atrophy, Postural tremor, Chorea, Slurred speech, Dysmetria, Abnormality of masti... |
ORPHA:98755 |
Developmental And Epileptic Encephalopathy 16 |
|
Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Dystonia |
OMIM:615338 |
Continuous Spikes And Waves During Sleep |
|
Speech apraxia, Clumsiness, Hyperkinetic movements, Dystonia |
ORPHA:725 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Hand polydactyly, Abnor... |
OMIM:314390 |
X-Linked Dystonia-Parkinsonism |
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Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Joint stiffness, Split hand, Abnormal rib morphology, Poplitea... |
ORPHA:1300 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... |
ORPHA:1826 |
Ataxia-Telangiectasia-Like Disorder |
|
Joint laxity, Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Dystonia, Oc... |
ORPHA:251347 |
Sialuria |
|
Neuropathic spinal arthropathy, 2-3 toe syndactyly, Hyperkinetic movements, Long hallux, Joint hy... |
ORPHA:3166 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Osteoporosis, Camptodactyly |
OMIM:616006 |
Congenital Myopathy 12 |
|
Arachnodactyly, Akinesia, Jaw contracture, Camptodactyly, Overlapping fingers, Joint contracture ... |
OMIM:612540 |
Parkinsonism-Dystonia 3, Childhood-Onset |
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Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor |
OMIM:619738 |
Dravet Syndrome |
|
Incoordination, Parkinsonism, Tibial torsion, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fin... |
ORPHA:33069 |
Spinocerebellar Ataxia 13 |
|
Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Spas... |
OMIM:605259 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Inguinal hernia, Chorea, Unsteady gait, Progressive cerebellar ataxia, Upp... |
ORPHA:485350 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Decre... |
OMIM:617137 |
Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Overlapping toe, Ataxia, Proximal placement of thumb, Tapered finger, Abnormal s... |
OMIM:616737 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
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Ataxia, Osteoporosis, Spastic tetraplegia, Myoclonus, Erratic myoclonus |
OMIM:619971 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Neonatal death, Short neck, Talipes equinovarus, Camptodactyly |
OMIM:608104 |
Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski si... |
OMIM:606693 |
Scarf Syndrome |
|
Inguinal hernia, Diastasis recti, Craniosynostosis, Short neck, Abnormal form of the vertebral bo... |
ORPHA:3134 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Sternocleidomastoid amyotrophy, Short neck, Delayed skeletal maturation, Abnormal rib... |
ORPHA:488434 |
Tetrasomy 15Q26 |
|
Arachnodactyly, Kyphoscoliosis, Camptodactyly |
OMIM:614846 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
Sclerosteosis 1 |
|
Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Deviation o... |
OMIM:269500 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Dysmetria, Gait ataxia, Myopathy, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoc... |
ORPHA:254881 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Pectus excavatum of inferior sternum, Rocker bottom foot, Tapered finger, Finger clinodactyly, Sc... |
OMIM:601353 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Rocker bottom foot, Single transverse palmar crease, Pec... |
OMIM:272950 |
Benign Adult Familial Myoclonic Epilepsy |
|
Myoclonus, Hand tremor |
ORPHA:86814 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Abnormality ... |
ORPHA:169189 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Skeletal muscle atrophy, Short neck, Absent radius, Preaxial han... |
ORPHA:233 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Ankle flexion contracture, Tapered finger, Kn... |
ORPHA:435938 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Hemivertebrae, Dysplastic sacrum, Humeroradial s... |
OMIM:134780 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Brachydactyly, Sacral dimple, Kyphoscoliosis, Partial duplication of thumb phalanx, Partial dupli... |
OMIM:616331 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Ataxia, Lower limb muscle weakness, Dysmetria, Spastic dysarthria, Distal amyotrophy, Dysdiadocho... |
ORPHA:313772 |
Cerebrofaciothoracic Dysplasia |
|
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... |
ORPHA:1394 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemiver... |
OMIM:271520 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Flexion contracture, Micromelia, Camptodactyly |
OMIM:610015 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Lumbar hyperlordosis, Progressive flexion contractures, Ataxia, Equinus calcaneus, ... |
ORPHA:522077 |
Epilepsy, Progressive Myoclonic, 12 |
|
Difficulty walking, Ataxia, Myoclonus, Dysmetria |
OMIM:619191 |
Native American Myopathy |
|
Joint laxity, Skeletal muscle atrophy, Inability to walk, Abnormality of skeletal muscle fiber si... |
ORPHA:168572 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Myoclonus, Abnormality of extrapyramidal motor function |
OMIM:204300 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypertonia, Unsteady gait, Myoclonus |
OMIM:610090 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Increased intramyocellular lipid droplets, De... |
OMIM:612016 |
Cohen-Gibson Syndrome |
|
Osteopenia, Joint laxity, Coxa valga, Hypoplastic iliac wing, Long fingers, Accelerated skeletal ... |
OMIM:617561 |
Dpm1-Cdg |
|
Sandal gap, Ataxia, Knee flexion contracture, Muscular dystrophy, Camptodactyly, Limb undergrowth... |
ORPHA:79322 |
Aymé-Gripp Syndrome |
|
Inguinal hernia, Prominent metopic ridge, Rocker bottom foot, Congenital diaphragmatic hernia, Ta... |
ORPHA:1272 |
Encephalopathy Due To Prosaposin Deficiency |
|
Myoclonus, Dystonia |
ORPHA:139406 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pectus excavatum, Hypoplastic iliac wing, Delayed skeletal maturation, Small hand, Short foot, Jo... |
OMIM:235510 |
Huntington Disease |
|
Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clumsiness, Br... |
ORPHA:399 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Myoclonus |
OMIM:204500 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Inguinal hernia, Scapular winging, Pectus excavatum, Supernumerary ribs, Six lumbar vertebrae, Jo... |
OMIM:619122 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Loss of ability to walk in early childhood, Ataxia, Unsteady gait, Babinski sign, Spastic diplegi... |
ORPHA:401866 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Cerebral palsy, Arachnodactyly, Chorea, Myoclonus, Scoliosis |
OMIM:617600 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements |
ORPHA:397933 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... |
OMIM:263520 |
Developmental And Epileptic Encephalopathy 27 |
|
Chorea, Myoclonus, Spasticity, Dystonia |
OMIM:616139 |
Opitz-Kaveggia Syndrome |
|
Syndactyly, Sacral dimple, Lumbar hyperlordosis, Broad hallux, Multiple joint contractures, Singl... |
OMIM:305450 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Short 3rd toe, Delayed skeletal maturation, Short 2nd toe, Short 5th finger, Myoclonus, Short 4th... |
OMIM:619060 |
Trisomy 1Q |
|
Omphalocele, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenital diaphragmatic he... |
ORPHA:261344 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Delayed epiphyseal ossification, P... |
OMIM:114290 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Osteopenia, Babinski sign, Gait disturbance, Myoclonus, Apraxia, Pathologic fracture |
OMIM:618193 |
Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Inguinal hernia, Short... |
OMIM:252940 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Congenital contracture, Flexion contracture, Thin ribs |
OMIM:615368 |
Codas Syndrome |
|
Omphalocele, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, ... |
OMIM:600373 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abn... |
ORPHA:75508 |
Pontocerebellar Hypoplasia Type 4 |
|
Arthrogryposis multiplex congenita, Hypertonia, Myoclonus |
ORPHA:166063 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Barrel-shaped chest, Short humerus, Bowing of the long bones, Osteopenia, Increased bone mineral ... |
OMIM:239000 |
Developmental And Epileptic Encephalopathy 72 |
|
Inability to walk, Hyperkinetic movements |
OMIM:618374 |
Premature Aging Syndrome, Penttinen Type |
|
Hyperextensibility of the knee, Palmoplantar hyperkeratosis, Tibial bowing, Short palm, Joint con... |
OMIM:601812 |
Vacterl/Vater Association |
|
Omphalocele, Finger syndactyly, Abnormal intervertebral disk morphology, Congenital diaphragmatic... |
ORPHA:887 |
Tarp Syndrome |
|
Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Pectus excavatum, Hyp... |
OMIM:311900 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, Upper limb muscle weakn... |
ORPHA:466768 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Inguinal hernia, Hypoplastic scapulae, Bowing of the legs, Short neck, Short toe, Sh... |
OMIM:269860 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Hypertonia, Limb tremor, Myoclonus |
OMIM:300699 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Waddling gait, Osteomalacia, Bowing of the legs, Bone pain, Reduced bone mineral density, Hypopho... |
ORPHA:157215 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Short neck, Hemivertebrae, Narrow chest, Intention tremo... |
OMIM:213980 |
Neutral Lipid Storage Disease With Myopathy |
|
Myopathy, Increased muscle lipid content, Fasciculations, Difficulty walking |
OMIM:610717 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Sandal gap, Rhizomelia, Hypoplasia of the radius, Short ribs, Talipes... |
OMIM:607143 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Loss of ambulation, Abnormality of extrapyramidal motor function, Parkinsonism, Myoclonus |
OMIM:204200 |
Gracile Bone Dysplasia |
|
Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification, Brachydactyly |
OMIM:602361 |
Alpers-Huttenlocher Syndrome |
|
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... |
ORPHA:726 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Sandal gap, Radial deviation of the hand, Faci... |
OMIM:607323 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Radial club hand, Stillbirth, Abnormality of the vertebral column, Abnormal vertebr... |
OMIM:276950 |
Salt And Pepper Developmental Regression Syndrome |
|
Choreoathetosis, Hyporeflexia of upper limbs, Myoclonus |
OMIM:609056 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Syndactyly, Sacral dimple, Prominent metopic ridge, Overlapping toe, Ulnar dev... |
OMIM:605039 |
Spinocerebellar Ataxia 50 |
|
Ataxia, Postural tremor, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor |
OMIM:620158 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the pelvis, Abnormally ossified vertebrae, Abnormal rib morphology, ... |
ORPHA:3301 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Ataxia, Poor motor co... |
ORPHA:363400 |
Infantile Spasms Syndrome |
|
Myoclonus |
ORPHA:3451 |
Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Oculomotor apraxia, Cutaneous syndactyly, Talipes equinovarus, Camptodactyly, Ha... |
OMIM:617822 |
Pontocerebellar Hypoplasia, Type 4 |
|
Congenital contracture, Hypertonia, Myoclonus, Spasticity |
OMIM:225753 |
Kbg Syndrome |
|
Syndactyly, Vertebral fusion, Single transverse palmar crease, Short neck, Delayed skeletal matur... |
OMIM:148050 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Flaring of rib c... |
OMIM:612852 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Inguinal hernia, Short femur, Wide cranial sutures, Metaphyseal spurs, Recurrent frac... |
OMIM:618188 |
Restless Legs Syndrome, Susceptibility To, 1 |
|
Myoclonus |
OMIM:102300 |
Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Myoclonus |
OMIM:217200 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Torticollis, Writer's cramp, Neck muscle hypertrophy, Unsteady gait, Limb tremor,... |
ORPHA:420492 |
Meester-Loeys Syndrome |
|
Joint dislocation, Arachnodactyly, Cervical spine instability, Abnormal sternum morphology, Broad... |
OMIM:300989 |
Alexander Disease Type Ii |
|
Ataxia, Rigidity, Palatal tremor, Babinski sign, Spasticity, Scoliosis, Spastic paraparesis, Limb... |
ORPHA:363722 |
Craniorachischisis |
|
Omphalocele, Bifid sternum, Congenital diaphragmatic hernia, Sirenomelia |
ORPHA:63260 |
Alg8-Cdg |
|
Abnormality of subcutaneous fat tissue, Ataxia, Macroglossia, Talipes equinovarus, Camptodactyly,... |
ORPHA:79325 |
Scarf Syndrome |
|
Barrel-shaped chest, Inguinal hernia, Diastasis recti, Short neck, Abnormal form of the vertebral... |
OMIM:312830 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Short middle phalanx of the 2nd finger, Coxa vara, Narrow ch... |
OMIM:119600 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Vocal cord paralysis, Myoclonus, Scoliosis, Dystonia, Spasticity, Hip subluxation |
ORPHA:500144 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Single transverse palmar crease, Short neck, Tibial bowing, Opis... |
OMIM:269150 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Joint laxity, Syndactyly, Hyperextensibility of the finger joints, Inguinal hernia, Broad clavicl... |
OMIM:151050 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Paraparesis, Oromotor apraxia... |
OMIM:617854 |
Optic Atrophy 11 |
|
Ataxia, Gait apraxia, Dysmetria, Athetosis, Facial diplegia, Hyperkinetic movements, Bilateral ta... |
OMIM:617302 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Omphalocele, Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Squared iliac bones, Preax... |
OMIM:616300 |
Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
Monosomy 9Q22.3 |
|
Rhabdomyosarcoma, Short neck, Pectus excavatum, Kyphosis, Accelerated skeletal maturation, Palmar... |
ORPHA:77301 |
Aspergillosis |
|
Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology, Oste... |
ORPHA:1163 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Generalized dystonia, Ataxia, Single transverse palmar crease, Clonus, Achilles tendon contractur... |
OMIM:618076 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Syndactyly, Ataxia, Talipes equinovarus, Camptodactyly, Tracheomalacia, Caudal appendage |
ORPHA:314679 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Gait disturbance, Fasciculations, Proximal amyotrophy |
OMIM:608030 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Short neck, Humeroradial synostosis, Abnormal rib morphology, Hy... |
ORPHA:3404 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis, Broad palm, Scoliosis, Broad phalan... |
OMIM:277600 |
Myopathy, Myofibrillar, 2 |
|
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... |
OMIM:608810 |
Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Thin ribs, Myopathy, Neonatal death, Joint hypermobility |
OMIM:300219 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Tetraplegia, Hand tremor, Proximal amyotrophy, Gait disturbance, Fasciculations |
OMIM:604484 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Parkinsonism, Tremor, Head titubation, Inability to walk, Rigidity, Truncal ataxia, Gait ataxia, ... |
OMIM:618877 |
Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Postural tremor, Abnormal pyramidal sign, Proximal amyotrophy, Distal am... |
OMIM:608627 |
Cardiofacioneurodevelopmental Syndrome |
|
Clinodactyly of the 5th finger, Kyphosis, Brachydactyly, Camptodactyly |
OMIM:619123 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Joint hypermobility, Thin ribs |
ORPHA:456328 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Sp... |
OMIM:618060 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Broad hallux, Sandal gap, Mesomelia, Camptodactyly, Prominent finger... |
OMIM:618529 |
Spinocerebellar Ataxia Type 26 |
|
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... |
ORPHA:101112 |
Myhre Syndrome |
|
Brachydactyly, Inguinal hernia, Femoral hernia, Joint stiffness, Abnormal rib morphology, Skeleta... |
ORPHA:2588 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Diastasis recti, Coat hanger sign of ribs, Umbilical hernia, Thoracic hypoplasia |
ORPHA:254534 |
Mepan Syndrome |
|
Axial dystonia, Limb dystonia, Ataxia, Hemidystonia, Chorea, Gait disturbance, Myoclonus, Dystoni... |
ORPHA:508093 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Bone pain, Abnormal femur morph... |
ORPHA:352540 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Scoliosis, Camptodactyly, Clinodactyly, Spina bifida occulta, Joint hypermobility |
OMIM:617360 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Short neck, Lateral clavicle hook, Preaxial polydactyly, Hypoplastic pubic... |
OMIM:617925 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
Fryns Syndrome |
|
Omphalocele, Rocker bottom foot, Proximal placement of thumb, Short neck, Single transverse palma... |
OMIM:229850 |
Machado-Joseph Disease |
|
Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign, Limb atax... |
OMIM:109150 |
Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Inguinal hernia, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Tape... |
OMIM:613458 |
Developmental And Epileptic Encephalopathy 109 |
|
Spasticity, Gait ataxia, Myoclonus, Left ventricular hypertrophy, Crouch gait |
OMIM:620145 |
Dystonia 34, Myoclonic |
|
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia |
OMIM:619724 |
Hyperekplexia 1 |
|
Exaggerated startle response, Inguinal hernia, Hip dislocation, Hypertonia, Myoclonus, Umbilical ... |
OMIM:149400 |
Developmental And Epileptic Encephalopathy 2 |
|
Tapered finger, Inability to walk, Small hand, Short foot, Myoclonus, Scoliosis |
OMIM:300672 |
3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Ataxia, Tremor, Brachioradialis areflexia, Flexion contracture, Opisthotonus, Choreoa... |
OMIM:616271 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Short neck, Vocal cord paralysis, Tibial bowing, Hypertonia, Broad ... |
ORPHA:798 |
Tay-Sachs Disease |
|
Skeletal muscle atrophy, Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Larynge... |
ORPHA:845 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b... |
ORPHA:2878 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Hiatus hernia, Hemiplegia/hemiparesis, Small hand, Rib fusion, Mul... |
ORPHA:50 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Prominent metopic ridge, Overlapping toe, Single transverse palmar crease, Tapered finger, Short ... |
OMIM:619148 |
Parasomnia, Sleep Bruxism Type |
|
Myoclonus |
OMIM:606840 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Inguinal hernia, Single transverse pal... |
OMIM:303600 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperkinetic movements, Ataxia |
OMIM:271980 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Loss of ability to walk in early childhood, Inability to walk, Athetosis... |
OMIM:612073 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Lumbar hyperlordosis, Rigidity, Opisthotonus, Proximal limb muscle ... |
OMIM:184850 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Myoc... |
ORPHA:442835 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab... |
OMIM:200500 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Short neck, Delayed epiphyseal ossification, Flexion... |
OMIM:210710 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Thickened ribs, Short neck, Pectus carinatum, Cortical thickening of long bone diaphy... |
ORPHA:309282 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Ataxia, Short neck, Pectus excavatum, Shortening of all distal phalanges of the fingers, Hip dysp... |
ORPHA:247262 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Decreased muscle mass, Ulnar deviation of the hand, Rocker bottom foot, Camptoda... |
OMIM:208150 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Joint stiffness, Delayed skeletal maturation, Short metat... |
OMIM:608328 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Syndactyly, Sacral dimple, Short neck, Kyphosis, Mesomelia, Scoliosis, Camptodactyly... |
OMIM:616894 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus |
OMIM:604827 |
Spinocerebellar Ataxia 34 |
|
Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Fasciculations, Sp... |
OMIM:133190 |
Juvenile Sialidosis Type 2 |
|
Lower limb spasticity, Inguinal hernia, Ataxia, Abnormal form of the vertebral bodies, Dysmetria,... |
ORPHA:93399 |
Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... |
OMIM:117650 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Flexion contracture, Abnormal pyramidal sign, Abnormal form of the ... |
ORPHA:581 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Sacral dimple, Short proximal phalanx of the 2nd finger... |
ORPHA:261323 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Spasticity, Ataxia, Myoclonus, Dystonia |
OMIM:620094 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Paraparesis, Babinski sign, Progres... |
ORPHA:275872 |
Arthrogryposis And Ectodermal Dysplasia |
|
Skeletal muscle atrophy, Abnormal dental enamel morphology, Kyphoscoliosis, Atypical scarring of ... |
OMIM:601701 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Rhizomelia, Elbow dislocation, Patellar dislocation, Short palm, Short 1st metacarpal |
ORPHA:93328 |
Autosomal Recessive Robinow Syndrome |
|
Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Syno... |
ORPHA:1507 |
Kinsship Syndrome |
|
Osteopenia, Sacral dimple, Single transverse palmar crease, Spastic tetraparesis, Coxa valga, Sho... |
OMIM:619297 |
Myoclonus, Intractable, Neonatal |
|
Athetosis, Chorea, Increased variability in muscle fiber diameter, Myoclonus |
OMIM:617235 |
Spinocerebellar Ataxia 36 |
|
Skeletal muscle atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hyperto... |
OMIM:614153 |
9P13 Microdeletion Syndrome |
|
Joint stiffness, Hand tremor, Myoclonus, Scoliosis, Metopic synostosis, Clinodactyly of the 5th f... |
ORPHA:324313 |
Nestor-Guillermo Progeria Syndrome |
|
Wide cranial sutures, Lipoatrophy, Limited elbow movement, Joint stiffness, Delayed closure of th... |
OMIM:614008 |
Hsd10 Disease, Infantile Type |
|
Spastic tetraparesis, Poor coordination, Spastic diplegia, Choreoathetosis, Hyperkinetic movement... |
ORPHA:391428 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Rocker bottom foot, Calcaneovalgus deformity, Contractures of the lar... |
ORPHA:3078 |
Pontocerebellar Hypoplasia, Type 2E |
|
Flexion contracture, Osteoporosis, Spastic tetraplegia, Opisthotonus, Hypertonia, Myoclonus, Scol... |
OMIM:615851 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Short neck,... |
ORPHA:263508 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Hypertonia, Gait disturbance, Hyperkinetic movements |
OMIM:236270 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Skeletal muscle atrophy, Myoclonus, Dysmetria |
OMIM:618251 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Rigidity, Babinski sign, Gait disturbance, Myoclonus, Dystonia |
OMIM:600795 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Diastasis recti, Kyphoscoliosis, Short neck, Coxa valga, Limitation... |
ORPHA:254519 |
Lennox-Gastaut Syndrome |
|
Falls, Myoclonus |
ORPHA:2382 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Sacral dimple, Inguinal hernia, Single transverse palmar crease, Deep palmar crease,... |
OMIM:247200 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Skeletal muscle atrophy, Short femur, Flexion contracture, Ragged-red muscle fiber... |
ORPHA:17 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Blepharospas... |
ORPHA:101 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Loss of ambulation, Tongue fasciculations, Fasciculations |
OMIM:613435 |
Tarp Syndrome |
|
Finger syndactyly, Broad-based gait, Rocker bottom foot, Postaxial polydactyly, Single transverse... |
ORPHA:2886 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Blepharospasm, Hyperkinetic movements, Limb dystonia, Lingual ... |
ORPHA:93958 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Bell-shaped thorax, Delayed skeletal maturation, Inguinal hernia, Horizontal ribs |
OMIM:614857 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Short neck, Camptodactyly, Absent palmar crease |
OMIM:614230 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Progressive cerebellar ataxia, Chin myoclonus, Myoclonus, Limb myoclonus |
ORPHA:263516 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Skeletal muscle atrophy, Overlapping toe, Craniosynostosis, Tapered finger, Pectus excavatum, Del... |
OMIM:309590 |
Pontocerebellar Hypoplasia, Type 7 |
|
Skeletal muscle atrophy, Ataxia, Single transverse palmar crease, Spastic paraplegia, Opisthotonu... |
OMIM:614969 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Lower limb spasticity, 2-3 toe cutaneous syndactyly, Flexion contracture, 3-4 finger cutaneous sy... |
OMIM:620029 |
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Skeletal muscle atrophy, Fasciculations, Foot dorsiflexor weakness |
OMIM:137200 |
Dpagt1-Cdg |
|
Arachnodactyly, Lipodystrophy, Ataxia, Akinesia, Tremor, Inability to walk, Flexion contracture, ... |
ORPHA:86309 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Sandal gap, Ataxia, Tremor, Inability to walk, Small hand, 2-3 toe syndact... |
OMIM:619229 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Skeletal muscle atrophy, Postural tremor, Limb joint contracture, Ataxia, Tapered finger, Flexion... |
OMIM:301072 |
Glass Syndrome |
|
Inguinal hernia, Broad-based gait, Arachnodactyly, Anterior tibial bowing, Facial hypotonia, Tali... |
OMIM:612313 |
Marfan Syndrome |
|
Reduced subcutaneous adipose tissue, Decreased muscle mass, Arachnodactyly, Protrusio acetabuli, ... |
OMIM:154700 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, ... |
ORPHA:280 |
Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Accelerated skeletal mat... |
ORPHA:373 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Increased intervertebral space, Broad ischia, Diaphyseal dysplasia, Platys... |
OMIM:619727 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Skeletal muscle atrophy, Ataxia, Babinski sign, Gait ataxia, Hyperkinetic movements, Loss of ambu... |
OMIM:620089 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... |
OMIM:619725 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Abnormal tibia morphology, Abnormal finger morphology, Abnormal femur morphology, Abn... |
ORPHA:909 |
Parkinsonian-Pyramidal Syndrome |
|
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Shuffling gait, Tal... |
ORPHA:171695 |
Hallermann-Streiff Syndrome |
|
Wormian bones, Abnormality of the hand, Hyperlordosis, Pectus excavatum, Metaphyseal widening, Th... |
OMIM:234100 |
Neuroferritinopathy |
|
Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Leg d... |
ORPHA:157846 |
Alg12-Cdg |
|
Sandal gap, Ulnar deviation of the wrist, Proximal placement of thumb, Long fingers, Abnormal bon... |
ORPHA:79324 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Ataxia, Myoclonus |
OMIM:254800 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Tremor, Abnormal rib morphology,... |
ORPHA:667 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Spastic tetraplegia, Spastic diplegia,... |
OMIM:206900 |
Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han... |
OMIM:146510 |
Trisomy 10P |
|
Thumb contracture, Decreased muscle mass, Wide cranial sutures, Poor motor coordination, Abnormal... |
ORPHA:171929 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Limitation of movement at ankles, Broad-based gait, Ataxia, Tremor, Gait imbalance, Scoliosis, My... |
ORPHA:98794 |
Galloway-Mowat Syndrome 3 |
|
Arachnodactyly, Hiatus hernia, Pectus excavatum, Hip dislocation, Camptodactyly, Spasticity |
OMIM:617729 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Single transverse palmar crease, Metatarsus adductus, Talipes equinovarus, Camptodactyly, Cubitus... |
OMIM:214110 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Clonus, Flexion contracture, Myoclonus, Spasticity |
OMIM:618201 |
Congenital Disorder Of Deglycosylation 1 |
|
Facial hypotonia, Single transverse palmar crease, Involuntary movements, Chorea, Small hand, Ost... |
OMIM:615273 |
Multifocal Motor Neuropathy |
|
Limb muscle weakness, Weakness of long finger extensor muscles, Fasciculations, Limited wrist ext... |
ORPHA:641 |
Galloway-Mowat Syndrome 1 |
|
Ataxia, Hiatus hernia, Spastic tetraplegia, Talipes equinovarus, Dystonia, Hand clenching, Spasti... |
OMIM:251300 |
Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Inguinal hernia, Slurred speech, Dysmetria, Epiphyseal stippling, Myoclonus |
OMIM:256550 |
Developmental And Epileptic Encephalopathy 100 |
|
Single transverse palmar crease, Bilateral camptodactyly, Chorea, Small hand, Elbow flexion contr... |
OMIM:619777 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia |
OMIM:312170 |
Nablus Mask-Like Facial Syndrome |
|
Sandal gap, Single transverse palmar crease, Short hallux, Tapered finger, Short neck, Craniosyno... |
OMIM:608156 |
Episodic Ataxia, Type 5 |
|
Episodic ataxia, Ataxia, Myoclonus, Truncal ataxia |
OMIM:613855 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormality of the hand, Babinski sign, Gait disturbance, Myoclonus, Apraxia, Pathologic fracture... |
OMIM:221770 |
Thyrocerebrorenal Syndrome |
|
Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia, Abnormality of the musculature of th... |
ORPHA:3327 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Myoclonus, Eyelid myoclonus |
OMIM:618357 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Inguinal hernia, Sagittal craniosynostosis, Small hand, Camptodactyly, Bilateral single transvers... |
ORPHA:459061 |
Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Ataxia, Facial palsy, Tremor, Myoclonus, Limb muscle weakness |
ORPHA:97229 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Babinski sign, Abnormal pyramidal sign, Distal amyotrophy, Fasciculations, Spasticity |
OMIM:602099 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Inguinal hernia, Tapered toe, Tapered finger, Rib fusion, Clinodactyly of the 5th ... |
ORPHA:544488 |
Monosomy 9P |
|
Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Congenital diaphragmati... |
ORPHA:261112 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Narrow chest,... |
OMIM:619479 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Inguinal hernia, Overlapping toe, Proximal placement of thumb, Tapered finger, Flexion contractur... |
ORPHA:487796 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Prominent metopic ridge, Multiple joint contractures, Camptodactyly of fin... |
ORPHA:468631 |
Meier-Gorlin Syndrome 2 |
|
Delayed skeletal maturation, Patellar aplasia, Slender long bone, Camptodactyly, Tracheomalacia, ... |
OMIM:613800 |
Parkinson Disease 14, Autosomal Recessive |
|
Axial dystonia, Resting tremor, Eyelid apraxia, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Episodic ataxia, Myoclonus, Morning myoclonic jerks, Truncal ataxia |
OMIM:607682 |
Vater/Vacterl Association |
|
Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ... |
OMIM:192350 |
Loeys-Dietz Syndrome 2 |
|
Joint laxity, Syndactyly, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Postaxial polydac... |
OMIM:610168 |
Alzheimer Disease 3 |
|
Spastic tetraparesis, Babinski sign, Gait disturbance, Myoclonus, Abnormality of extrapyramidal m... |
OMIM:607822 |
Cranioectodermal Dysplasia 1 |
|
Single transverse palmar crease, Narrow chest, Joint laxity, Rhizomelia, Sagittal craniosynostosi... |
OMIM:218330 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Oculogyric crisis, Parkinsonism, Rigidity, Babinski sign, Abnormal finger morphol... |
ORPHA:306674 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Inguinal hernia, Congenital hip dislocation, Arachnodactyly, Protrusio ... |
OMIM:225400 |
Farber Disease |
|
Skeletal muscle atrophy, Abnormality of the knee, Abnormality of the hand, Paraparesis, Short toe... |
ORPHA:333 |
Trisomy 18 |
|
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Postaxial hand polydactyly... |
ORPHA:3380 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, Short neck, Preaxial polydactyly, Coxa vara, Pectus carinatum, K... |
OMIM:614976 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... |
OMIM:137440 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
1-2 toe syndactyly, Broad hallux, Congenital diaphragmatic hernia, Tapered finger, Spastic tetrap... |
OMIM:301044 |
Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Bilateral talipe... |
OMIM:609465 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Facial hypotonia, Genu recurvatum, Kyphosis, Babinski sign, Myoclonus, Scoliosis, S... |
ORPHA:364028 |
Isaacs Syndrome |
|
Calf muscle hypertrophy, Fasciculations |
ORPHA:84142 |
Omodysplasia 1 |
|
Short humerus, Increased fibular diameter, Rhizomelia, Short neck, Limited knee flexion, Limited ... |
OMIM:258315 |
Loeys-Dietz Syndrome 1 |
|
Joint laxity, Arachnodactyly, Craniosynostosis, Postaxial hand polydactyly, Cervical spine instab... |
OMIM:609192 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myo... |
ORPHA:204 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Inguinal hernia, Broad-based gait, Broad 2nd toe, Pectus excavatum, Palmoplantar hyperkeratosis, ... |
OMIM:280000 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Calf muscle hypertrophy, Limb muscle weakness, Fasciculations |
OMIM:313200 |
Phosphoserine Aminotransferase Deficiency |
|
Hypertonia, Myoclonus |
OMIM:610992 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Tapered finger, Hyperlordosis, Hip dislocation, Genu valgum, Hip dysplasia, Umbilical hernia, Tal... |
OMIM:301066 |
Episodic Ataxia Type 7 |
|
Episodic ataxia, Hyperkinetic movements |
ORPHA:209970 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Single transverse palmar crease, Tapered finger, Myoclonus, Type 1 muscle fiber predominance, Inc... |
OMIM:612949 |
Microcephaly-Capillary Malformation Syndrome |
|
Spastic tetraparesis, Myoclonus, Right ventricular hypertrophy, Clinodactyly, Short distal phalan... |
OMIM:614261 |
Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Flexion contracture, Sk... |
ORPHA:682 |
Amyotrophic Lateral Sclerosis 18 |
|
Skeletal muscle atrophy, Spasticity, Fasciculations |
OMIM:614808 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hallux valgus, Rocker bottom foot, Camptodactyly of finger, Elbow flexion contracture, Joint cont... |
OMIM:602782 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Spasticity, Ataxia, Myoclonus |
OMIM:618225 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Long fingers, Atypical scarring of skin, Atrophic scars, Bilateral talipes equinovarus, Talipes e... |
OMIM:618343 |
Mesomelia-Synostoses Syndrome |
|
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow... |
OMIM:600383 |
Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Pseudobulbar paralysis, Fasciculations, Spasticity |
OMIM:105400 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow dislocation, Delayed skeletal... |
ORPHA:2554 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys... |
OMIM:617088 |
Early Myoclonic Encephalopathy |
|
Myoclonus |
ORPHA:1935 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Inguinal hernia, Abnormal thumb morphology, Metatarsus adductus, Tibial bowing, Macroglossia, Lar... |
ORPHA:500095 |
Aicardi Syndrome |
|
Block vertebrae, Proximal placement of thumb, Missing ribs, Hiatus hernia, Rib fusion, Hemiverteb... |
OMIM:304050 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,... |
OMIM:218600 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Joint laxity, Brachydactyly, Mesoaxial foot polydactyly, Broad hallux, Overlapping toe, Duplicati... |
OMIM:612474 |
Peho Syndrome |
|
Myoclonus, Tapered finger |
OMIM:260565 |
Glycine Encephalopathy 1 |
|
Myoclonus |
OMIM:605899 |
Adenylosuccinase Deficiency |
|
Skeletal muscle atrophy, Prominent metopic ridge, Inability to walk, Gait ataxia, Opisthotonus, M... |
OMIM:103050 |
Spinocerebellar Ataxia 1 |
|
Skeletal muscle atrophy, Chorea, Babinski sign, Limb ataxia, Dysmetria, Progressive cerebellar at... |
OMIM:164400 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus... |
OMIM:168601 |
Dextrocardia |
|
Congenital hip dislocation, Abnormal rib morphology |
ORPHA:1666 |
Developmental And Epileptic Encephalopathy 23 |
|
Myoclonus |
OMIM:615859 |
Developmental And Epileptic Encephalopathy 54 |
|
Myoclonus |
OMIM:617391 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Limb muscle weakness, Fasciculations |
OMIM:619141 |
Behavioral Variant Of Frontotemporal Dementia |
|
Upper motor neuron dysfunction, Gait disturbance, Fasciculations, Abnormality of extrapyramidal m... |
ORPHA:275864 |
Full Schwannomatosis |
|
Lipoma, Fasciculations, Scoliosis |
ORPHA:93921 |
Dystonia 26, Myoclonic |
|
Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia |
OMIM:616398 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa... |
OMIM:608643 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Palmoplantar hyperkeratosis,... |
ORPHA:2907 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Generalized limb muscle atrophy, Clumsiness, Facial diplegia, Steppage gait, Fasciculations, Freq... |
ORPHA:521411 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Myoclonus, Scoliosis, Dystonia |
OMIM:617669 |
Galloway-Mowat Syndrome 10 |
|
Arachnodactyly, Myoclonus |
OMIM:619609 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Short neck, Congenital diaphragmatic hernia, Abnormal form of the ve... |
ORPHA:818 |
Abeta Amyloidosis, Iowa Type |
|
Gait disturbance, Myoclonus |
ORPHA:324708 |
Thyrocerebroretinal Syndrome |
|
Skeletal muscle atrophy, Slurred speech, Ataxia, Myoclonus |
OMIM:274240 |
Brody Disease |
|
Skeletal muscle hypertrophy, Flexion contracture, Fasciculations |
OMIM:601003 |
Hemimegalencephaly |
|
Hemiparesis, Myoclonus |
ORPHA:99802 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Aplasia of the 1st metaca... |
ORPHA:1352 |
Spinocerebellar Ataxia Type 13 |
|
Torticollis, Limb ataxia, Gait ataxia, Titubation, Clumsiness, Bradykinesia, Myoclonus, Difficult... |
ORPHA:98768 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Ataxia, Involuntary movements, Chorea, Spas... |
ORPHA:506 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Rigidity, Myoclonus |
OMIM:619057 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Sandal gap, Delayed cranial suture closure, Decreased fibular diameter, Pectus excava... |
OMIM:619127 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Joint contracture of the hand, Camptodactyly |
OMIM:608257 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Short neck,... |
ORPHA:79444 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Pterygium, Rocker bottom foot, Micromelia, Short neck, Long fi... |
OMIM:256520 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Involuntary... |
ORPHA:79443 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Kyphoscoliosis, Hip dislocation, Hip dyspla... |
OMIM:617403 |
Lathosterolosis |
|
Abnormal thoracic spine morphology, Prominent metopic ridge, Toe syndactyly, Postaxial hand polyd... |
ORPHA:46059 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Persistent open anterior fontanelle, Single transverse palmar crease, Metatarsus adductus, Epiphy... |
OMIM:614866 |
Poliomyelitis |
|
Skeletal muscle atrophy, Stiff neck, Hypoplasia of the musculature, Paralysis, Inability to walk,... |
ORPHA:2912 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Flexion contractur... |
ORPHA:2908 |
Myoclonic Epilepsy Of Infancy |
|
Hemiplegia, Poor motor coordination, Myoclonus, Poor hand-eye coordination |
ORPHA:86909 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Hypertonia, Myoclonus |
OMIM:617290 |
Japanese Encephalitis |
|
Skeletal muscle atrophy, Stiff neck, Weakness due to upper motor neuron dysfunction, Facial palsy... |
ORPHA:79139 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Overlapping toe, Camptodactyly |
ORPHA:363444 |
Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Fasciculations, Centrally nucleated skeletal muscle ... |
ORPHA:324581 |
Congenital Sialidosis Type 2 |
|
Inguinal hernia, Ataxia, Dysmetria, Polydactyly, Myoclonus, Umbilical hernia, Spasticity |
ORPHA:93400 |
Turnpenny-Fry Syndrome |
|
Thoracic kyphoscoliosis, Torticollis, Lumbar hyperlordosis, Overlapping toe, Facial hypotonia, Ta... |
OMIM:618371 |
Cerebrocostomandibular Syndrome |
|
Tracheomalacia, Kyphosis, Posterior rib gap, Bell-shaped thorax, Clinodactyly of the 5th finger |
ORPHA:1393 |
Renpenning Syndrome 1 |
|
Pectus excavatum, Scoliosis, Camptodactyly, Clinodactyly of the 5th finger, Synostosis of the pro... |
OMIM:309500 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Cortical subperiosteal resorption of humeral metaphys... |
ORPHA:94089 |
Microcephaly, Amish Type |
|
Flexion contracture, Myoclonus, Limb hypertonia |
OMIM:607196 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Opisthotonus, Hypertonia, Myoclonus, ... |
OMIM:619847 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Bifid distal phalanx of the ... |
ORPHA:97360 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Congenital diaphragmatic hernia, Delayed skeletal maturation, Ri... |
OMIM:157800 |
Posttransplant Acute Limbic Encephalitis |
|
Ataxia, Myoclonus, Dystonia |
ORPHA:163921 |
Ayme-Gripp Syndrome |
|
Tapered finger, Pectus excavatum, Radioulnar synostosis, Camptodactyly, Delayed cranial suture cl... |
OMIM:601088 |
Schindler Disease, Type I |
|
Osteopenia, Spasticity, Generalized amyotrophy, Myoclonus |
OMIM:609241 |
Caribbean Parkinsonism |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... |
ORPHA:97355 |
Constricting Bands, Congenital |
|
Omphalocele, Syndactyly, Abnormal rib cage morphology, Hand polydactyly, Talipes equinovarus, Sco... |
OMIM:217100 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Inability to walk, Broad-based gait, Myoclonus |
OMIM:616158 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Dystonia, Cerebral palsy, Tapered finger, Pectus excavatum, Inability to walk, Limited elbow exte... |
OMIM:616973 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Ge... |
ORPHA:79279 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Single transverse palmar crease, Abnormal form of the vertebral bodies, Ve... |
OMIM:194190 |
Pseudo-Torch Syndrome 2 |
|
Thin ribs |
OMIM:617397 |
Loeys-Dietz Syndrome 3 |
|
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abnormal sternum morphology, Joint laxity,... |
OMIM:613795 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inability to walk, Myoclonus |
ORPHA:411986 |
Developmental And Epileptic Encephalopathy 101 |
|
Limb joint contracture, Myoclonus, Opisthotonus |
OMIM:619814 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Skeletal muscle atrophy, Fasciculations |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Skeletal muscle atrophy, Fasciculations |
OMIM:616437 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
Tick-Borne Encephalitis |
|
Back pain, Skeletal muscle atrophy, Speech apraxia, Stiff neck, Incoordination, Facial palsy, Par... |
ORPHA:297 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Broad-based gait, Ataxia, Centrally nucleated skeletal... |
OMIM:607459 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Lumbar hyperlordosis, Down-sloping shoulders, Kyphoscoliosis, Abnormal palmar dermato... |
OMIM:309800 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypertonia, Unsteady gait, Myoclonus |
ORPHA:79096 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Generalized joint laxity, Delayed skeletal maturation, Osteoporosis, Camptodactyly |
ORPHA:432 |
Dystonia-Aphonia Syndrome |
|
Generalized dystonia, Unsteady gait, Macroglossia, Gait disturbance, Myoclonus, Oromandibular dys... |
ORPHA:412217 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Metatarsus... |
OMIM:607872 |
H Syndrome |
|
Hallux valgus, Lipodystrophy, Recurrent fractures, Delayed skeletal maturation, Osteolysis, Herni... |
ORPHA:168569 |
Cranioectodermal Dysplasia 2 |
|
Joint laxity, Syndactyly, Inguinal hernia, Rhizomelia, Craniosynostosis, Short neck, Pectus excav... |
OMIM:613610 |
Gaucher Disease, Type Iii |
|
Ataxia, Myoclonus, Spastic paraparesis |
OMIM:231000 |
Pediatric-Onset Graves Disease |
|
Tremor, Hyperkinetic movements, Craniosynostosis, Accelerated skeletal maturation |
ORPHA:525731 |
O'Sullivan-Mcleod Syndrome |
|
Hand muscle weakness, Tremor, Intrinsic hand muscle atrophy, Upper limb muscle weakness, Fascicul... |
ORPHA:99965 |
Rheumatic Fever |
|
Chorea, Aplasia/Hypoplasia of the abdominal wall musculature, Arthritis, Gait disturbance, Fascic... |
ORPHA:3099 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Inguinal hernia, Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of join... |
ORPHA:217085 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Spastic tetraparesis, Opisthotonus, Abnormality of extrapyramidal motor function, Myoclonus, Neon... |
OMIM:605711 |
Zttk Syndrome |
|
Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Hemivertebrae, Small hand, Short foo... |
OMIM:617140 |
Oculocerebrorenal Syndrome Of Lowe |
|
Inguinal hernia, Abnormal dental enamel morphology, Osteomalacia, Recurrent fractures, Joint stif... |
ORPHA:534 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Limb joint contracture, Tremor, Fasciculations, Limb hypertonia |
OMIM:620327 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Joint laxity, Reduced subcutaneous adipose tissue, Overlapping toe, Kyphoscoliosis, Knee flexion ... |
OMIM:617402 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Flexion contracture, Hypertonia, Narrow chest, Generalized amyotrophy, Intention trem... |
OMIM:264090 |
Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures, Femur fracture, Osteopetrosis |
OMIM:612301 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Inguinal hernia, Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of join... |
ORPHA:217093 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Clinodactyly, Camptodactyly |
ORPHA:228426 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short humerus, Short metacarpal, Abnormal thorax morphology, Rhizomelic arm shortening, Panniculi... |
ORPHA:508542 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Kyphosis, Hemiplegia/hemiparesis, Rib... |
ORPHA:1606 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Inability to walk, Gait disturbance, Myoclonus, Spasticity, Cortical myoclonus |
ORPHA:168491 |
Choreoacanthocytosis |
|
Peroneal muscle atrophy, Chorea, Hypertonia, Limb dystonia, Muscle fiber atrophy, Loss of ambulat... |
ORPHA:2388 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Inguinal hernia, Long clavicles, Overlapping toe, Arachnodactyly, Single transverse palmar crease... |
ORPHA:83617 |
Sandhoff Disease |
|
Skeletal muscle atrophy, Exaggerated startle response, Ataxia, Macroglossia, Fasciculations, Spas... |
OMIM:268800 |
Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia, Myoclonus, Hiatus hernia |
OMIM:614618 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ataxia, Tremor, Ragged-red muscle fibers, Myoclonus, Loss of ambulation, Right hemiplegia, Decrea... |
OMIM:607426 |
Nipah Virus Disease |
|
Tremor, Myoclonus |
ORPHA:99825 |
3-Methylglutaconic Aciduria Type 7 |
|
Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Hypertonia, Abnormality of ex... |
ORPHA:445038 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ataxia, Left ventricular noncompaction, Neonatal death, Myoclonus, Dystonia, Left ventricular hyp... |
OMIM:619167 |
Hyperekplexia 2 |
|
Exaggerated startle response, Hypertonia, Myoclonus, Hiatus hernia |
OMIM:614619 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch, Short d... |
OMIM:118450 |
Angelman Syndrome |
|
Broad-based gait, Ataxia, Tremor, Inability to walk, Myoclonus, Scoliosis |
ORPHA:72 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Speech apraxia, Prominent metopic ridge, Polydactyly, Myoclonus |
ORPHA:314655 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:604218 |
Juvenile Absence Epilepsy |
|
Myoclonus |
ORPHA:1941 |
Immunodeficiency 23 |
|
Ataxia, Myoclonus, Scoliosis, Joint hypermobility, Cortical myoclonus |
OMIM:615816 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Craniosynostosis, Ulnar bowing, Humeroradi... |
OMIM:201750 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Involuntary movements, Abnormal pyramidal sign, Myoclonus, Dysmetria |
OMIM:619780 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Spasticity, Ataxia, Myoclonus, Abnormality of extrapyramidal motor function |
OMIM:614299 |
Amyotrophy, Monomelic |
|
Upper limb muscle weakness, Interosseus muscle atrophy, Fasciculations |
OMIM:602440 |
Postpoliomyelitis Syndrome |
|
Skeletal muscle atrophy, Abnormal joint morphology, Fasciculations |
ORPHA:2942 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Hypertonia, Myoclonus |
ORPHA:289266 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Myoclonus, Dystonia, Left... |
OMIM:618321 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Exaggerated startle response, Short femur, Tapered finger, Hypertonia, Spasticity |
OMIM:618367 |
Townes-Brocks Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... |
ORPHA:857 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Deposits immunoreactive... |
ORPHA:1020 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Chorea, Opisthotonus, Myoclonus, Tetraparesis, Dystonia |
OMIM:616672 |
Infantile Krabbe Disease |
|
Lower limb spasticity, Spastic diplegia, Opisthotonus, Ankle clonus, Shoulder girdle muscle weakn... |
ORPHA:206436 |
Coccidioidomycosis |
|
Osteomyelitis, Osteolysis, Abnormal long bone morphology, Atypical scarring of skin, Arthritis, A... |
ORPHA:228123 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Accelerated skeletal maturation, Pectus carinatum, Vertebral seg... |
OMIM:312870 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Clonus, Spastic tetraplegia, Myoclonus, Scoliosis, Neonatal death |
OMIM:619055 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Tremor, Hypoplastic vertebral bodies, Hypertonia, Loss of facial adipose tissue, Long... |
ORPHA:3455 |
Restrictive Dermopathy |
|
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... |
ORPHA:1662 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Neonatal death, Myoclonus, Dystonia |
OMIM:620167 |
Early Infantile Epileptic Encephalopathy |
|
Dystonia, Tremor, Choreoathetosis, Myoclonus, Short finger, Broad finger, Episodic ataxia, Umbili... |
ORPHA:1934 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Myoclonus, Ataxia, Rickets |
OMIM:560000 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Myopathy, Stillbirth, Tongue fasciculations, Myoclonus, Neonatal death |
OMIM:614922 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hypertonia, Myoclonus |
OMIM:618240 |
Brain-Lung-Thyroid Syndrome |
|
Incoordination, Ataxia, Involuntary movements, Chorea, Clumsiness, Choreoathetosis, Falls, Myoclo... |
ORPHA:209905 |
Developmental And Epileptic Encephalopathy 31B |
|
Appendicular spasticity, Involuntary movements, Clonus, Opisthotonus, Myoclonus |
OMIM:620352 |
Doors Syndrome |
|
11 pairs of ribs, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagittal craniosynostosis, ... |
ORPHA:79500 |
D-Glyceric Aciduria |
|
Single transverse palmar crease, Spastic tetraplegia, Opisthotonus, Myoclonus, Spasticity |
OMIM:220120 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Calcaneovalgus deformity, Flexion contracture, Pectus carinatum, Long hallux, Long toe, Syndactyl... |
ORPHA:261537 |
Pagod Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Abnormal rib morphology, Congenital diaphragmatic hernia |
ORPHA:991 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Ataxia, Inability to walk, Vocal cord paralysis, Hyperkinetic movements, A... |
OMIM:617799 |
D-Glyceric Aciduria |
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Chorea, Myoclonus, Spasticity |
ORPHA:941 |
Charge Syndrome |
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Facial palsy, Abnormal tibia morphology, Abnormal rib morphology, Hemivertebrae, Bifid femur, Abn... |
ORPHA:138 |
Pallister-Hall Syndrome |
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Hemivertebrae, Mesoaxial polydactyly, Radial bowing, Rib fusion, Umbilical hernia, Polydactyly af... |
ORPHA:672 |
Chromosome 1P36 Deletion Syndrome, Proximal |
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Clinodactyly, Camptodactyly |
OMIM:619343 |
Cog8-Cdg |
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Skeletal muscle atrophy, Ataxia, Myoclonus |
ORPHA:95428 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
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Spastic tetraplegia, Joint contracture, Myoclonus |
OMIM:614462 |
Mowat-Wilson Syndrome |
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Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Recurrent fractur... |
ORPHA:2152 |
Sandhoff Disease, Infantile Form |
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Exaggerated startle response, Myoclonus, Spasticity |
ORPHA:309155 |
Serotonin Syndrome |
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Clonus, Tremor, Rigidity, Rhabdomyolysis, Hypertonia, Myoclonus |
ORPHA:43116 |
Developmental And Epileptic Encephalopathy 49 |
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Exaggerated startle response, Facial-lingual fasciculations, Spastic tetraplegia, Myoclonus, Spas... |
OMIM:617281 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
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Rigidity, Myoclonus |
OMIM:300673 |
Charge Syndrome |
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Omphalocele, Hypoplasia of the ulna, Down-sloping shoulders, Facial palsy, Abnormal palmar dermat... |
OMIM:214800 |
Ataxia-Telangiectasia |
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Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia... |
OMIM:208900 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
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Postural tremor, Unsteady gait, Gait ataxia, Myoclonus, Intention tremor, Action tremor |
OMIM:254900 |
Ablepharon-Macrostomia Syndrome |
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Ventral hernia, Omphalocele, Short metacarpal, Toe syndactyly, Cutaneous finger syndactyly, Talip... |
OMIM:200110 |
Roberts-Sc Phocomelia Syndrome |
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Syndactyly, Hypoplasia of the ulna, Short humerus, Ankle flexion contracture, Aplasia of the ulna... |
OMIM:268300 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Calcaneovalgus deformity, Flexion contracture, Pectus carinatum, Long hallux, Long toe, Syndactyl... |
ORPHA:261552 |
Niemann-Pick Disease Type C |
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Axial dystonia, Limb dystonia, Lower limb spasticity, Speech apraxia, Ataxia, Tremor, Chorea, Apl... |
ORPHA:646 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Absent thumb, Sagittal craniosynostosis, Ri... |
ORPHA:500150 |
Mitochondrial Dna Depletion Syndrome 19 |
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Spasticity, Myoclonus, Tetraparesis |
OMIM:618972 |
Pgm3-Cdg |
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Brachydactyly, Osteomyelitis, Ataxia, Myoclonus, Cortical myoclonus |
ORPHA:443811 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Osteopenia, Joint laxity, Exaggerated startle response, Broad-based gait, Involuntary movements, ... |
ORPHA:438213 |
Whipple Disease |
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Myositis, Ataxia, Abnormal pyramidal sign, Arthritis, Myoclonus |
ORPHA:3452 |
Listeriosis |
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Back pain, Stiff neck, Osteomyelitis, Ataxia, Tremor, Rhabdomyolysis, Hemiparesis, Myoclonus, Sep... |
ORPHA:533 |
Epilepsy, Progressive Myoclonic, 10 |
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Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Myoclonus, Spasticity |
OMIM:616640 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
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Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Myoclonus, Gait ataxia |
ORPHA:70595 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
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Myoclonus |
ORPHA:168593 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
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Spasticity, Myoclonus |
OMIM:246450 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Ataxia, Paralysis, Osteoporosis, Hypertonia, Myoclonus, Scoliosis, Tetraparesis, Tracheomalacia |
OMIM:203700 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Torticollis, Ataxia, Spastic tetraplegia, Distal amyotrophy, Myoclonus, Spastic paraparesis, Arth... |
OMIM:609136 |
Scorpion Envenomation |
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Hemifacial spasm, Ataxia, Tremor, Rhabdomyolysis, Hyperkinetic movements, Myoclonus |
ORPHA:466677 |
Osteopetrosis With Renal Tubular Acidosis |
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Recurrent fractures, Pectus excavatum, Osteopetrosis, Tetraparesis, Prominent floating ribs |
ORPHA:2785 |
Fatal Familial Insomnia |
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Ataxia, Myoclonus |
OMIM:600072 |
Neuroblastoma, Susceptibility To, 1 |
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Bone pain, Myoclonus, Ataxia |
OMIM:256700 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Recurrent fractures, Abnormal dental enamel morphology, Craniosynostosis, Myoclonus |
ORPHA:251004 |
Melas |
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Abnormal central motor function, Ataxia, Ragged-red muscle fibers, Hemiparesis, Myopathy, Gait di... |
ORPHA:550 |
Neutral Lipid Storage Myopathy |
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Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Myop... |
ORPHA:98908 |
Fabry Disease |
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Left ventricular hypertrophy, Fasciculations, Abnormality of the hand |
OMIM:301500 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Spasticity, Ataxia, Myoclonus, Spastic hemiparesis |
ORPHA:20 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Pectus excavatum, Myoclonus, Tetraplegia, Dystonia |
OMIM:618278 |
Early-Onset Lafora Body Disease |
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Ataxia, Myoclonus, Spastic tetraparesis |
ORPHA:324290 |
Lafora Disease |
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Ataxia, Inability to walk, Gait disturbance, Myoclonus, Erratic myoclonus, Spasticity |
ORPHA:501 |
Ethylene Glycol Poisoning |
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Slurred speech, Ataxia, Facial palsy, Myoclonus |
ORPHA:31826 |
Nmda Receptor Encephalitis |
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Oculogyric crisis, Involuntary movements, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Myoclo... |
ORPHA:217253 |
Combined Oxidative Phosphorylation Deficiency 14 |
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Myoclonus |
OMIM:614946 |
Myoclonic Epilepsy Of Lafora |
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Gait disturbance, Myoclonus, Apraxia |
OMIM:254780 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
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Hyperkinetic movements, Myoclonic spasms |
ORPHA:73224 |
African Trypanosomiasis |
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Abnormal central motor function, Involuntary movements, Akinesia, Paralysis, Tremor, Choreoatheto... |
ORPHA:3385 |
Opsoclonus-Myoclonus Syndrome |
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Rigidity, Limb myoclonus, Ataxia, Myoclonus |
ORPHA:1183 |
Unilateral Polymicrogyria |
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Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... |
ORPHA:268943 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
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Spasticity, Hypertonia, Ataxia, Myoclonus |
OMIM:618426 |
Pontocerebellar Hypoplasia Type 7 |
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Skeletal muscle atrophy, Involuntary movements, Hypertonia, Myoclonus, Fasciculations, Spasticity |
ORPHA:284339 |
Crimean-Congo Hemorrhagic Fever |
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Stiff neck, Fasciculations |
ORPHA:99827 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Spasticity, Muscular dystrophy, Myoclonus |
OMIM:253280 |