Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Spastic Paraplegia 25, Autosomal Recessive |
|
Spinal cord compression, Back pain |
OMIM:608220 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Spinal cord compression... |
OMIM:222600 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Craniofacial Conodysplasia |
|
Spinal cord compression, Cone-shaped epiphyses of the phalanges of the hand |
ORPHA:85168 |
Spinal Dysplasia, Anhalt Type |
|
Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Coxa vara, Absent spinou... |
OMIM:601344 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Pes cavus, Abnormal motor neuron morphology |
DECIPHER:29 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Hyperconvex vertebral body... |
OMIM:184255 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,... |
OMIM:118651 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Cervical cord compression, Atrial septal defect, Hypoplastic cervical vertebra... |
ORPHA:79345 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... |
ORPHA:2347 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Paralysis |
OMIM:608634 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Flared metaphysis,... |
OMIM:602557 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal cord compression, Vertebral fusion, Spinal instability |
OMIM:251250 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Paralysis |
OMIM:158590 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Abnormal spinal cord morphology, Abnormal pubic bone morpho... |
ORPHA:83468 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Talipes equinovarus, Scoliosis, Hyperlordosis |
OMIM:611067 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... |
ORPHA:2098 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
Dysosteosclerosis |
|
Ventricular septal defect, Hypoplastic vertebral bodies, Irregular vertebral endplates, Platyspon... |
ORPHA:1782 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Distal amyotrophy, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Rocker bottom foot, Micrognathia, Paucity of anterior hor... |
OMIM:611890 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Shor... |
OMIM:135100 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Gm1-Gangliosidosis, Type I |
|
Beaking of vertebral bodies, Death in infancy, Abnormal heart valve morphology, Short neck, Kypho... |
OMIM:230500 |
Gurrieri Syndrome |
|
Decreased anterioposterior diameter of lumbar vertebral bodies, Hypoplastic acetabulae, Hypoplast... |
OMIM:601187 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Vertebral Hypoplasia With Lumbar Kyphosis |
|
Lumbar kyphosis, Vertebral hypoplasia |
OMIM:192900 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Achilles tendon contracture, Pes cavus, Scoliosis |
OMIM:607225 |
Atelosteogenesis, Type I |
|
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vert... |
OMIM:108720 |
Infantile Liver Failure Syndrome 3 |
|
Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver... |
OMIM:618641 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Spinal cord compression, Myelopathy, Abnormality of the vertebral column |
OMIM:602475 |
Cervical Vertebral Dysplasia |
|
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Hypoplastic vertebral bodies, Short distal phalanx of finger, Coxa valga |
OMIM:601370 |
Odontoid Hypoplasia |
|
Hypoplasia of the odontoid process, Atlantoaxial instability, Cervical instability, Dystopic os o... |
OMIM:613628 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcan... |
OMIM:215140 |
Split Cord Malformation Type I |
|
Diastomatomyelia, Scoliosis |
ORPHA:1671 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnormal form of the verte... |
ORPHA:2916 |
Dysosteosclerosis |
|
Micrognathia, Absent frontal sinuses, Increased intervertebral space, Abnormal metaphyseal trabec... |
OMIM:224300 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Widening of cervical spinal canal, Neonatal death, Microg... |
OMIM:253310 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Squared iliac bones... |
OMIM:258480 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Hyperlordosis, Short neck, Delayed epiphyseal ossification, Metaphyseal widen... |
ORPHA:93352 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Inc... |
ORPHA:750 |
Pseudoachondroplasia |
|
Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epi... |
OMIM:177170 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... |
ORPHA:168549 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Opsismodysplasia |
|
Abnormally ossified vertebrae, Tapered finger, Squared iliac bones, Hypoplastic pubic bone, Hypop... |
ORPHA:2746 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Clinodactyly, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Abnormal vertebral mo... |
ORPHA:93315 |
Richieri Costa-Da Silva Syndrome |
|
Kyphoscoliosis, Short neck, Metatarsus adductus, Vertebral wedging, Genu valgum, Decreased anteri... |
ORPHA:3101 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Skeletal muscle atrophy, Lower-limb joint contracture, Talipes equinovarus, Paralysis |
OMIM:613710 |
Brachyolmia Type 3 |
|
Short neck, Spinal cord compression, Kyphosis, Proximal femoral metaphyseal irregularity, Platysp... |
OMIM:113500 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal... |
ORPHA:93307 |
Gm1 Gangliosidosis Type 1 |
|
Hypoplastic vertebral bodies, Cardiomyopathy, Flared iliac wing, Short long bone, Platyspondyly, ... |
ORPHA:79255 |
Gm1-Gangliosidosis, Type Ii |
|
Coxa valga, Hypoplastic vertebral bodies, Platyspondyly, Limb undergrowth, Scoliosis, Thoracolumb... |
OMIM:230600 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Neonatal epiphyseal stippling, Short metatarsal, Spinal canal st... |
OMIM:101800 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Caudal Regression Syndrome |
|
Missing ribs, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, Hypoplastic verte... |
ORPHA:3027 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Pes cavus |
ORPHA:95434 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ... |
ORPHA:2635 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Coxa valga, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Short distal phalanx of... |
ORPHA:2163 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Abnormal cardiac septum morphology, Abnormal form of the ... |
ORPHA:93941 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Long coccyx, Narrow greater sciatic notch, Halberd-shaped... |
OMIM:156530 |
Lethal Congenital Contracture Syndrome 8 |
|
Flexion contracture, Vocal cord paralysis, Facial diplegia, Hammertoe, Distal amyotrophy, Distal ... |
OMIM:616287 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity |
OMIM:606777 |
Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Hypoplastic acetabulae, Fem... |
OMIM:620076 |
Seckel Syndrome 8 |
|
Spinal cord compression, Kyphoscoliosis, Micrognathia |
OMIM:615807 |
Cervical Vertebrae, Agenesis Of |
|
Cervical vertebral agenesis |
OMIM:214290 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Micrognathia, Absent middle phalanx of 3rd fin... |
OMIM:308050 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Coxa valga, Advanced ossification of carpal bones, Knee dislocation, Short long bone, Small epiph... |
OMIM:620269 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... |
ORPHA:71277 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Diastrophic Dysplasia |
|
Bowing of the long bones, Camptodactyly of finger, Proximal placement of thumb, Micromelia, Micro... |
ORPHA:628 |
Myxopapillary Ependymoma |
|
Abnormal sacrum morphology, Abnormal conus terminalis morphology |
ORPHA:251643 |
Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Thoracic scoliosis, Pilonidal sinus, Short neck, Achilles tendon contractur... |
OMIM:252940 |
Lethal Congenital Contracture Syndrome 7 |
|
Skeletal muscle atrophy, Paralysis, Knee flexion contracture, Facial diplegia, Distal arthrogryposis |
OMIM:616286 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Knee dislocation, Atrial septal defect, Spina bifida occulta... |
OMIM:150250 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Micrognathia, Spinal cord compression, Flared metaphysis, Hypoplas... |
ORPHA:93346 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Distal lower limb amyotrophy, Distal lower limb muscle weakness, Claw hand deformity, Paralysis |
OMIM:605285 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Small cervical vertebral bodies, Brachydactyly, Abnormal acetabulum morphology, Postaxial polydac... |
ORPHA:397715 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
Slc35A2-Cdg |
|
Camptodactyly of finger, Coxa valga, Metatarsus adductus, Abnormal heart morphology, Abnormal lon... |
ORPHA:356961 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Atelosteogenesis Type Iii |
|
Absent humerus, Abnormal cervical curvature, Epiphyseal stippling of the humerus, Micrognathia, S... |
ORPHA:56305 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Short phalanx of finger, Hypoplastic cer... |
ORPHA:56304 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Paresis of extensor muscles of the big toe, Abnormal foot morphology, Abnormal spinal cord morpho... |
ORPHA:99947 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Hyperlordosis, Abnormal motor neuron morphology, Abnormal long bon... |
ORPHA:52430 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... |
OMIM:201170 |
Anauxetic Dysplasia 1 |
|
Hip contracture, Lumbar hyperlordosis, Rhizomelia, Short neck, Hypoplastic ilia, Short toe, Cervi... |
OMIM:607095 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ribs, Talipes... |
OMIM:607143 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Syringomyelia, Scoliosi... |
OMIM:122600 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Spinal co... |
OMIM:618150 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Tethered cord, Talipes, Spinal dysraphism, Aortic valve stenosis, Hypoplas... |
OMIM:617660 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Short neck, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, S... |
OMIM:601559 |
Porphyria, Acute Hepatic |
|
Respiratory paralysis, Paralysis |
OMIM:612740 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
Multiple Sulfatase Deficiency |
|
Hypoplastic vertebral bodies, Broad hallux, Broad thumb |
OMIM:272200 |
Thoraco-Abdominal Enteric Duplication |
|
Camptodactyly of finger, Dextrocardia, Missing ribs, Diastomatomyelia, Abnormal tricuspid valve m... |
ORPHA:1759 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology |
OMIM:606353 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, Sho... |
OMIM:251230 |
Acute Peripheral Arterial Occlusion |
|
Limb muscle weakness, Paralysis |
ORPHA:90064 |
Hajdu-Cheney Syndrome |
|
Coarse metaphyseal trabecularization, Brachydactyly, Ventricular septal defect, Mitral stenosis, ... |
ORPHA:955 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect... |
OMIM:113000 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Capitate-hamat... |
OMIM:271650 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... |
ORPHA:1106 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Micrognathia, Short neck, Abnormally ossified vertebrae, Lumbar hyperlordosis, Abnorma... |
ORPHA:94068 |
Mucopolysaccharidosis, Type Iva |
|
Abnormal heart valve morphology, Ovoid vertebral bodies, Coxa valga, Epiphyseal deformities of tu... |
OMIM:253000 |
Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Short metacarpal, Thoracolumbar kyphoscoliosis, Spinal cord compress... |
OMIM:618853 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... |
ORPHA:35689 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, Cone-shaped epi... |
ORPHA:85172 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
Spinocerebellar Ataxia Type 26 |
|
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... |
ORPHA:101112 |
Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Ventricular septal defect, Tricuspid stenosis, Micrognathia, Absent thumb, Shor... |
OMIM:105650 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal joint contracture of fin... |
ORPHA:1145 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Scoliosis |
ORPHA:2590 |
Spinal Arteriovenous Metameric Syndrome |
|
Abnormality of the vertebral column, Abnormal spinal cord morphology, Spinal arteriovenous malfor... |
ORPHA:53721 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular, rachitic-like metaphyses, Kyphoscoliosis, Short neck, Abnormal foot morphology, Hypopl... |
OMIM:184252 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology, Absent Achilles reflex |
OMIM:263570 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Micrognathia, Short neck, Hemivertebrae, Tibial bowing, Hypoplastic iliac wing, Atrial septal def... |
ORPHA:96334 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Pes planus, Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid ... |
OMIM:184250 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
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Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
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Foot osteomyelitis, Abnormal spinal cord morphology |
ORPHA:139578 |
Thanatophoric Dysplasia, Glasgow Variant |
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Neonatal death |
OMIM:273680 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
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Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p... |
OMIM:609813 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
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Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Metaphyseal widening, Coxa vara, Tibial bow... |
OMIM:608940 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
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Amyotrophic lateral sclerosis |
OMIM:617921 |
Caudal Duplication |
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Spina bifida, Abnormal sacrum morphology, Bifid sacrum, Spinal cord lesion, Vertebral segmentatio... |
ORPHA:1756 |
Smith-Mccort Dysplasia 2 |
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Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Hyperlordosis,... |
OMIM:615222 |
Laurin-Sandrow Syndrome |
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Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Smith-Mccort Dysplasia 1 |
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Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... |
OMIM:607326 |
Eiken Syndrome |
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Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
Mucopolysaccharidosis, Type Ivb |
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Pointed proximal second through fifth metacarpals, Ovoid vertebral bodies, Coxa valga, Epiphyseal... |
OMIM:253010 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
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Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... |
OMIM:268305 |
Keratoderma Hereditarium Mutilans |
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Autoamputation of digits, Abnormal spinal cord morphology, Honeycomb palmoplantar hyperkeratosis |
ORPHA:494 |
Variegate Porphyria |
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Paralysis |
OMIM:176200 |
Femoral-Facial Syndrome |
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Short femur, Micrognathia, Abnormal sacrum morphology, Coxa vara, Abnormal fibula morphology, Abn... |
ORPHA:1988 |
Hypokalemic Periodic Paralysis |
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Abnormal muscle fiber morphology, Paralysis, Respiratory paralysis, Increased intramyocellular li... |
ORPHA:681 |
Hereditary Neuropathy With Liability To Pressure Palsies |
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Vocal cord paralysis |
ORPHA:640 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
Tibial Aplasia-Ectrodactyly Syndrome |
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Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Dyggve-Melchior-Clausen Disease |
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Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... |
OMIM:223800 |
Kniest Dysplasia |
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Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ... |
ORPHA:485 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Shortening of the talar neck, Bowing of the legs, Spinal cord compression, Spinal canal stenosis,... |
OMIM:307800 |
Thrombocytopenia-Absent Radius Syndrome |
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Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... |
OMIM:609945 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Ankle clonus |
OMIM:613954 |
Multiple Epiphyseal Dysplasia, Lowry Type |
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Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
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Hyperlordosis, Spinal cord compression, Micrognathia, Kyphosis, Short neck, Fused cervical verteb... |
ORPHA:2522 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v... |
OMIM:602111 |
Iniencephaly |
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Rhizomelia, Rocker bottom foot, Spina bifida, Hyperlordosis, Absent vertebra, Spinal dysraphism, ... |
ORPHA:63259 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
Femoral-Facial Syndrome |
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Short fourth metatarsal, Micrognathia, Hemivertebrae, Dysplastic sacrum, Humeroradial synostosis,... |
OMIM:134780 |
Boucher-Neuhauser Syndrome |
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Abnormal upper motor neuron morphology |
OMIM:215470 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Neural Tube Defects, Susceptibility To |
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Absence of the sacrum, Sacral dimple, Spina bifida occulta, Asymmetry of spinal facet joints |
OMIM:182940 |
Spondyloepiphyseal Dysplasia Congenita |
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Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:183900 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Ventricular septal defect, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionat... |
OMIM:263520 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Postaxial polydactyly, Micrognathia, Short neck, Complete atrioventricular canal defect, Preaxial... |
OMIM:617925 |
Omodysplasia 1 |
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Short humerus, Rhizomelia, Ventricular septal defect, Increased fibular diameter, Micrognathia, L... |
OMIM:258315 |
Mosaic Trisomy 20 |
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Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Micrognathia, Kyphosis, Abno... |
ORPHA:1724 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
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Bicuspid aortic valve, Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral e... |
OMIM:271640 |
Pseudodiastrophic Dysplasia |
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Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Micrognathia, Short neck, Hypoplasia of... |
OMIM:264180 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... |
OMIM:616300 |
Hypokalemic Periodic Paralysis, Type 2 |
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Myopathy, Periodic paralysis |
OMIM:613345 |
Faciocardiomelic Dysplasia, Lethal |
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Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... |
OMIM:227270 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
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Vocal cord paralysis, Hand muscle weakness |
OMIM:162500 |
Spinocerebellar Ataxia Type 3 |
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Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c... |
ORPHA:98757 |
Orofaciodigital Syndrome Ix |
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Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
Frontotemporal Dementia With Motor Neuron Disease |
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Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology |
ORPHA:275872 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
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Short tibia, Short femur, Talipes equinovarus, Cardiomegaly |
OMIM:620306 |
Cerebral Cavernous Malformations 3 |
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Paralysis |
OMIM:603285 |
Congenital Myopathy 15 |
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Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability in muscle fiber... |
OMIM:620161 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
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Abnormal upper motor neuron morphology, Abnormal foot morphology |
OMIM:221770 |
Wiedemann-Rautenstrauch Syndrome |
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Long toe, Short humerus, Short femur, Camptodactyly of finger, Irregular sclerotic endplates, Kyp... |
ORPHA:3455 |
Atelosteogenesis, Type Iii |
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Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat... |
OMIM:108721 |
Spondyloepiphyseal Dysplasia Tarda |
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Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Amyotrophic Lateral Sclerosis 21 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal lower limb muscle w... |
OMIM:606070 |
Thrombocytopenia-Absent Radius Syndrome |
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Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
Orofaciodigital Syndrome Xi |
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Hypoplasia of the odontoid process, Kyphoscoliosis, Postaxial polydactyly |
OMIM:612913 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
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Athetosis, Paralysis |
OMIM:300857 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
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Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Stillbirth, Bilate... |
OMIM:119800 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
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Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
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Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Dilated c... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Dilated c... |
ORPHA:261 |
Multiple Osteochondromas |
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Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Acromesomelic Dysplasia 2B |
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Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
Orofaciodigital Syndrome Type 2 |
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Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
Microphthalmia, Syndromic 3 |
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Vertebral fusion, Ventricular septal defect, Missing ribs, Hemivertebrae, Butterfly vertebrae, Ve... |
OMIM:206900 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Rhizomelia, Iliac crest serration, Hypoplasia of... |
ORPHA:239 |
Laurin-Sandrow Syndrome |
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Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
Primary Angiitis Of The Central Nervous System |
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Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis |
ORPHA:140989 |
Multiple Synostoses Syndrome 1 |
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Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... |
OMIM:186500 |
Myasthenic Syndrome, Congenital, 16 |
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Periodic paralysis |
OMIM:614198 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Micrognathia, Thoracolumbar kyphosis, Increased intervertebral space, Narrow greater sciatic notc... |
ORPHA:508533 |
Normokalemic Periodic Paralysis |
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Periodic paralysis |
OMIM:170600 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
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Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:98863 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t... |
OMIM:226980 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
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Micromelia, Bowing of the legs, Micrognathia, Short neck, Knee flexion contracture, Abnormal calc... |
OMIM:271665 |
X-Linked Dominant Chondrodysplasia Punctata |
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Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Kyphoscoliosis, Lower limb asymmet... |
ORPHA:35173 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusio... |
OMIM:118100 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
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Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Short neck, Kyphos... |
ORPHA:958 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology, Abnormal pelvic girdle bone morphology, Pes cavus, Carpal... |
OMIM:601162 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Kyphosis, Abnormal spinal cord morphology, Scoliosis, Camptodactyly, Flexion contracture of finger |
ORPHA:88628 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... |
OMIM:184100 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
Snakebite Envenomation |
|
Paralysis, Rhabdomyolysis, Pseudobulbar paralysis, Muscle fiber necrosis, Respiratory paralysis |
ORPHA:449285 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy, Periodic paralysis |
OMIM:170400 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal widening, Coxa vara, ... |
OMIM:300232 |
Familial Cervical Artery Dissection |
|
Facial palsy, Paralysis |
ORPHA:36382 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Scoliosis, Abnormal upper ... |
OMIM:205100 |
White-Sutton Syndrome |
|
Micrognathia, Short neck, Hypoplastic cervical vertebrae, Broad foot, Atrial septal defect, Paten... |
OMIM:616364 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Congenital hip dislocation, Micrognathia, Long fingers, Hypoplastic coccygeal vertebrae, Bilatera... |
OMIM:619512 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Skeletal muscle atrophy, Limb muscle weakness, Paralysis |
OMIM:612300 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Limb Body Wall Complex |
|
Duplication of hand bones, Ventricular septal defect, Broad hallux, Spina bifida, Aplasia/hypopla... |
ORPHA:2369 |
Basilar Impression, Primary |
|
Syringomyelia, Abnormal cervical myelogram, Kyphoscoliosis, Short neck |
OMIM:109500 |
Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedg... |
OMIM:253200 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
X-Linked Adrenoleukodystrophy |
|
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,... |
ORPHA:43 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Genu recurvatum, Short neck, Tibial bowing, Knee dislocation, Shoulder dislocation, Irregular ver... |
OMIM:143095 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:230800 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short neck, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:304120 |
Sirenomelia |
|
Absence of the sacrum, Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia |
ORPHA:3169 |
Mucolipidosis Ii Alpha/Beta |
|
Cardiomegaly, Micrognathia, Metaphyseal widening, Death in childhood, Thoracolumbar kyphoscoliosi... |
OMIM:252500 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... |
OMIM:603671 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
Acrofacial Dysostosis, Rodríguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... |
ORPHA:1788 |
Machado-Joseph Disease Type 1 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si... |
ORPHA:276241 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Fatty replacement of skeletal muscle, Vocal cord paralysis, Myopathy, Increased variabili... |
ORPHA:397744 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased muscle mass, Vocal cord paralysis, Intrinsic hand muscle atrophy, Knee flexion contract... |
OMIM:615490 |
Epidermal Nevus Syndrome |
|
Thoracolumbar scoliosis, Spinal cord compression, Atrophy of the spinal cord, Spinal canal stenos... |
ORPHA:35125 |
Codas Syndrome |
|
Short humerus, Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Metaphyse... |
OMIM:600373 |
Friedreich Ataxia 2 |
|
Abnormality of the dorsal column of the spinal cord, Concentric hypertrophic cardiomyopathy, Hamm... |
OMIM:601992 |
Microphthalmia With Limb Anomalies |
|
Sacral dimple, Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, ... |
OMIM:206920 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Vocal cord paralysis |
ORPHA:2375 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Skeletal muscle atrophy, Cerebral palsy, Flexion contracture, Sk... |
ORPHA:682 |
Omodysplasia 2 |
|
Short humerus, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Hypoplastic distal hume... |
OMIM:164745 |
Laryngeal Abductor Paralysis |
|
Vocal cord paralysis, Talipes equinovarus |
OMIM:150260 |
Sacral Defect With Anterior Meningocele |
|
Back pain, Myeloschisis, Absence of the sacrum, Tethered cord, Hemisacrum, Hydromyelia, Bilateral... |
OMIM:600145 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... |
OMIM:272750 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Micrognathia, Missi... |
OMIM:200980 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Abnormal heart valve morphology, Short neck, Metata... |
OMIM:253220 |
Machado-Joseph Disease Type 3 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si... |
ORPHA:276244 |
Japanese Encephalitis |
|
Skeletal muscle atrophy, Weakness due to upper motor neuron dysfunction, Facial palsy, Paralysis,... |
ORPHA:79139 |
Occipital Horn Syndrome |
|
Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h... |
ORPHA:198 |
Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Spasticity, Paralysis |
ORPHA:803 |
Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Micrognathia, Preaxial hand polydactyly, Complete atrioventricular can... |
OMIM:236680 |
Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Periodic paralysis, Dilated cardiomyopathy, Small hand, 2-3 toe ... |
ORPHA:37553 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Rhabdomyolysis, Periodic paralysis |
OMIM:188580 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... |
OMIM:200600 |
Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Melnick-Needles Syndrome |
|
Pes planus, Short humerus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphos... |
OMIM:309350 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... |
OMIM:164900 |
Glioblastoma |
|
Paralysis |
ORPHA:360 |
Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis |
ORPHA:757 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Distal widening of metacarpals, Coxa vara, Thoracic kyphosis, Cervical cord c... |
OMIM:602535 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Pes planus, Congenital hip dislocation, Tapered finger, Micrognathia, Hypoplasia of the odontoid ... |
OMIM:616007 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Poliomyelitis |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Paralysis, Paraparesis, Abnormal skeletal... |
ORPHA:2912 |
Foodborne Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:228371 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia, Sacrococcygeal teratoma |
ORPHA:1757 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Pes planus, Short neck, Hypoplasia of the od... |
OMIM:305400 |
Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vocal cord paralysis |
OMIM:601650 |
Tick-Borne Encephalitis |
|
Speech apraxia, Skeletal muscle atrophy, Incoordination, Facial palsy, Paralysis, Tremor, Hyperki... |
ORPHA:297 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Short toe, Short finger, Paralysis |
OMIM:242100 |
Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, EMG: myopathic abnormalities, Periodic hypokalemic paresis |
ORPHA:684 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
Eiken Syndrome |
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Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Otopalatodigital Syndrome Type 2 |
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Bowing of the long bones, Abnormal heart valve morphology, Tarsal synostosis, Short hallux, Micro... |
ORPHA:90652 |
Encephalocraniocutaneous Lipomatosis |
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Paralysis, Rigidity, Tetraplegia, Spasticity, Hemiparesis, Hypertonia, Tricuspid valve prolapse, ... |
ORPHA:2396 |
Kyphomelic Dysplasia |
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Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Hurler Syndrome |
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Hypoplasia of the femoral head, Coxa valga, Short neck, Hypoplasia of the odontoid process, Metap... |
OMIM:607014 |
Brown-Vialetto-Van Laere Syndrome 1 |
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Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Vocal cord paralysis, Clumsin... |
OMIM:211530 |
Spondylocarpotarsal Synostosis Syndrome |
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Carpal synostosis, Pes planus, Short metacarpal, Epiphyseal dysplasia, Bowed humerus, Tarsal syno... |
OMIM:272460 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
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Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Pseudohypoaldosteronism, Type Iia |
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Periodic hyperkalemic paralysis |
OMIM:145260 |
Andersen Cardiodysrhythmic Periodic Paralysis |
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Short metacarpal, Toe syndactyly, Scapular winging, Periodic paralysis, Short metatarsal, Small h... |
OMIM:170390 |
Phocomelia, Schinzel Type |
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Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... |
ORPHA:2879 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
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Tremor, Periodic paralysis |
OMIM:613239 |
Boomerang Dysplasia |
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Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia |
OMIM:112310 |
Osteopathia Striata With Cranial Sclerosis |
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Paranasal sinus hypoplasia, Ventricular septal defect, Arachnodactyly, Micrognathia, Thoracolumba... |
OMIM:300373 |
Adrenomyeloneuropathy |
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Back pain, Atrophy of the spinal cord, Abnormal spinal cord morphology, Dorsal column degeneratio... |
ORPHA:139399 |
Progressive Non-Fluent Aphasia |
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Abnormal lower motor neuron morphology |
ORPHA:100070 |
Tibial Hemimelia |
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Absent tibia |
OMIM:275220 |
Heterotaxy, Visceral, 1, X-Linked |
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Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septa... |
OMIM:306955 |
Vacterl With Hydrocephalus |
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Absence of the sacrum, Spina bifida, Micrognathia, Hypoplasia of the radius, Hip dislocation, Hem... |
ORPHA:3412 |
Mesomelia-Synostoses Syndrome |
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Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Cartilage-Hair Hypoplasia |
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Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Metaphyseal wide... |
OMIM:250250 |
Osteofibrous Dysplasia, Susceptibility To |
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Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Thyrotoxic Periodic Paralysis |
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Paralysis, Tremor, Abnormal muscle fiber morphology, Rhabdomyolysis, Tetraplegia, Respiratory par... |
ORPHA:79102 |
Currarino Syndrome |
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Absence of the sacrum, Hemisacrum, Tethered cord, Bifid sacrum, Presacral teratoma, Anterior sacr... |
OMIM:176450 |
Inhalational Botulism |
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Paralysis |
ORPHA:254504 |
X-Linked Cerebral Adrenoleukodystrophy |
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Ankle clonus, Myelopathy, Abnormal spinal cord morphology |
ORPHA:139396 |
Renal Tubular Acidosis Iii |
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Periodic paralysis |
OMIM:267200 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
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Paralysis |
ORPHA:83601 |
Porphyria, Acute Intermittent |
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Respiratory paralysis, Paralysis |
OMIM:176000 |
Neurodegeneration With Brain Iron Accumulation 4 |
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Abnormal lower motor neuron morphology, Pes cavus |
OMIM:614298 |
Charge Syndrome |
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Hypoplasia of the ulna, Overriding aorta, Ventricular septal defect, Down-sloping shoulders, Micr... |
OMIM:214800 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodacty... |
OMIM:276820 |
Craniofacial Microsomia 1 |
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Ventricular septal defect, Block vertebrae, Micrognathia, Partial duplication of thumb phalanx, H... |
OMIM:164210 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Hypoplasia of the ulna, Death in infancy, Early ossification of capital femoral epiphyses, Cone-s... |
OMIM:208500 |
Tetrasomy 9P |
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Aplasia/Hypoplasia of the clavicles, Pericarditis, Hypoplastic scapulae, Sacral dimple, Dextrocar... |
ORPHA:3310 |
Acute Disseminated Encephalomyelitis |
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Abnormal spinal cord morphology, Myelitis |
ORPHA:83597 |
Acromelic Frontonasal Dysplasia |
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Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia |
ORPHA:1827 |
Sacral Agenesis With Vertebral Anomalies |
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Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
Charcot-Marie-Tooth Disease Type 4B2 |
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Proximal muscle weakness in upper limbs, Hand muscle weakness, Tremor, Vocal cord paralysis, Poor... |
ORPHA:99956 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Hallux valgus, Mitral valve calcification, Paralysis, Aortic valve calcification, Spastic paraple... |
ORPHA:2072 |
Feingold Syndrome 1 |
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Ventricular septal defect, Tricuspid stenosis, Short thumb, Short toe, Patent ductus arteriosus, ... |
OMIM:164280 |
Superficial Siderosis |
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Back pain, Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:247245 |
Gitelman Syndrome |
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Rhabdomyolysis, Ataxia, Paralysis |
OMIM:263800 |
Kinsship Syndrome |
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Pes planus, Death in infancy, Sacral dimple, Micrognathia, Coxa valga, Short neck, Hip dislocatio... |
OMIM:619297 |
Familial Cerebral Cavernous Malformation |
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Spinal cord lesion, Scoliosis |
ORPHA:221061 |
Oeis Complex |
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11 pairs of ribs, Absence of the sacrum, Congenital hip dislocation, Tethered cord, Sacral segmen... |
OMIM:258040 |
Cranioectodermal Dysplasia 1 |
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Broad toe, Brachydactyly, Short humerus, Rhizomelia, Bicuspid aortic valve, Broad distal phalange... |
OMIM:218330 |
Rift Valley Fever |
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Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis |
ORPHA:319251 |
Currarino Syndrome |
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Sacrococcygeal teratoma, Aplasia/Hypoplasia of the sacrum, Lower limb asymmetry |
ORPHA:1552 |
Amoebiasis Due To Free-Living Amoebae |
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Myocardial necrosis, Abnormal spinal cord morphology |
ORPHA:68 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Ataxia, Paralysis, Hypertonia, Myoclonus, Tetraparesis |
OMIM:203700 |
Gitelman Syndrome |
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Pericardial effusion, Rhabdomyolysis, Paralysis |
ORPHA:358 |
Tyrosinemia, Type I |
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Hypertrophic cardiomyopathy, Periodic paralysis |
OMIM:276700 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Abnormal vertebral morphology, Ventricular septal defect, Micrognathia, Small hand, Fibular hypop... |
ORPHA:444077 |
African Trypanosomiasis |
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Pericarditis, Abnormal central motor function, Involuntary movements, Paralysis, Tremor, Myocardi... |
ORPHA:3385 |
Osteopetrosis, Autosomal Recessive 3 |
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Periodic hypokalemic paresis, Diaphyseal sclerosis |
OMIM:259730 |
Heterotaxy, Visceral, 5, Autosomal |
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Absence of the sacrum, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Partial a... |
OMIM:270100 |
Orofaciodigital Syndrome Type 4 |
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Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
Distal Renal Tubular Acidosis |
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Paralysis |
ORPHA:18 |
Tsh-Secreting Pituitary Adenoma |
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Pericardial effusion, Periodic hypokalemic paresis, Tremor |
ORPHA:91347 |
Williams-Beuren Syndrome |
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Hallux valgus, Incoordination, Bicuspid aortic valve, Ventricular septal defect, Poor coordinatio... |
OMIM:194050 |
Pineoblastoma |
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Paralysis |
ORPHA:251909 |
Primary Sjögren Syndrome |
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Abnormal spinal cord morphology |
ORPHA:289390 |
Congenital Central Hypoventilation Syndrome |
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Abnormality of the autonomic nervous system, Aganglionic megacolon |
ORPHA:661 |
Central Hypoventilation Syndrome, Congenital, 3 |
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OMIM:619483 |