Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida, Short neck, Hemiplegia/hemiparesis, Abnormal sacrum morphology, Abnormality of the ... |
ORPHA:2345 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis, Scoliosis |
ORPHA:640 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity |
OMIM:606777 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Paralysis |
OMIM:608634 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Claw hand deformity, Scoliosis, Paralysis |
OMIM:605285 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Abnormal vertebral segmentation and fusion, Absent or minimally ossified verteb... |
ORPHA:66637 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paralysis |
OMIM:158590 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... |
ORPHA:71277 |
Wildervanck Syndrome |
|
Facial palsy, Short neck, Meningocele, Fused cervical vertebrae, Pseudopapilledema |
ORPHA:3456 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Spinocerebellar Ataxia Type 26 |
|
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... |
ORPHA:101112 |
Porphyria, Acute Hepatic |
|
Respiratory paralysis, Paralysis |
OMIM:612740 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... |
OMIM:618469 |
Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Wide anterior fontanel, Hemiverteb... |
OMIM:113000 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae |
OMIM:122600 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Facial palsy, Hyperlordosis, Kyphosis, Achilles tendon contr... |
OMIM:606612 |
Familial Congenital Mirror Movements |
|
Poor fine motor coordination, Fused cervical vertebrae, Cerebral palsy, Clumsiness |
ORPHA:238722 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Vertebral segmentation defect |
OMIM:618845 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Myelomeningo... |
OMIM:613686 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Optic atrophy, Scoliosis, Butter... |
ORPHA:313892 |
Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Joint laxity, Optic nerve hypoplasia, Short neck, Hemivertebrae... |
OMIM:615583 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Holoprosencephaly, Scoliosis, Thoracic hemivertebrae, Spasticity |
ORPHA:1445 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Postural tremor, Hydrocephalus, Flexion contracture, Vocal cord paralysis, Babinski sign, Hand tr... |
ORPHA:99947 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis |
ORPHA:1436 |
Lethal Congenital Contracture Syndrome 8 |
|
Flexion contracture, Vocal cord paralysis, Facial diplegia, Distal arthrogryposis, Neonatal death |
OMIM:616287 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
Lethal Congenital Contracture Syndrome 7 |
|
Facial diplegia, Distal arthrogryposis, Paralysis, Knee flexion contracture |
OMIM:616286 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Short neck, Craniosynost... |
OMIM:178110 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Myelopathy, Cranial nerve compression, Babinski sign, Vocal cord paralysis, Abnormali... |
ORPHA:268882 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Pseudopapilledema |
OMIM:314600 |
Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
Myasthenic Syndrome, Congenital, 16 |
|
Hyperlordosis, Periodic paralysis |
OMIM:614198 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis |
OMIM:309620 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck |
OMIM:244600 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Gorlin Syndrome |
|
Vertebral fusion, Hydrocephalus, Hemivertebrae, Vertebral wedging, Scoliosis |
ORPHA:377 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Paralysis |
OMIM:613710 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck |
OMIM:214300 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Vocal cord paralysis |
OMIM:607641 |
Acropectorovertebral Dysplasia |
|
Capitate-hamate fusion, Spina bifida occulta at S1, Spina bifida occulta at L5, Abnormal vertebra... |
OMIM:102510 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Reduced bone mineral density, Abnormal bone ossification, Abnormal vertebral morpholo... |
ORPHA:93315 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, T... |
ORPHA:2332 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Parkinsonism, Paralysis |
OMIM:105500 |
Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis, Frequent falls |
OMIM:607155 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi... |
ORPHA:2916 |
Acute Peripheral Arterial Occlusion |
|
Limb pain, Lower limb pain, Paralysis |
ORPHA:90064 |
Lamb-Shaffer Syndrome |
|
Ataxia, Optic atrophy, Fused cervical vertebrae, Thoracic kyphosis, Scoliosis, Upper motor neuron... |
ORPHA:530983 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Short neck, Joint hyperflexibility, Umbilical hernia, A... |
ORPHA:915 |
Kniest Dysplasia |
|
Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De... |
ORPHA:485 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Paralysis |
OMIM:300857 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr... |
ORPHA:90650 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:312150 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Kyphosis, Hydrocephalus, Meningocele, Sclerosis of skull base, Scol... |
OMIM:130720 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:253290 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Scoliosis, Short neck |
OMIM:118100 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab... |
OMIM:616549 |
Spinocerebellar Ataxia Type 3 |
|
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... |
ORPHA:98757 |
Hypokalemic Periodic Paralysis |
|
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis |
ORPHA:681 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis |
ORPHA:140989 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Facet joint arthrosis, Osteoarthritis, Generalized jo... |
OMIM:618000 |
Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Cervical kyphosis, Elbow dislocation, Dislocated wrist, Accessory... |
OMIM:150250 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck |
ORPHA:2522 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Froment sign, Vocal cord paralysis |
OMIM:162500 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:230800 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck, Hypoplasia of th... |
OMIM:272460 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Frontometaphyseal Dysplasia 1 |
|
Dislocated radial head, Limited elbow movement, Interphalangeal joint contracture of finger, Ankl... |
OMIM:305620 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernumerary vertebrae |
OMIM:271520 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... |
OMIM:135100 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... |
OMIM:265000 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Vocal cord paralysis |
ORPHA:2375 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral segmentation defec... |
ORPHA:96169 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Kyphoscoliosis, Spina bifida, Hydrocephalus, Hemivertebrae, Irregular ossificat... |
OMIM:109400 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Elbow ... |
ORPHA:90652 |
Caudal Regression Syndrome |
|
Joint stiffness, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Scoliosis, Abnor... |
ORPHA:3027 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly |
OMIM:617333 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Optic nerve aplasia, Optic nerve hypoplasia, Hemivertebrae, Spastic tetraplegia... |
OMIM:206900 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Ataxia, Facial palsy, Kyphosis, Vocal cord paralysis, Clumsiness, Ankle clonus, Tongue fasciculat... |
OMIM:211530 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... |
OMIM:272750 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
Familial Cervical Artery Dissection |
|
Facial palsy, Paralysis |
ORPHA:36382 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Periodic paralysis |
OMIM:170400 |
Atelosteogenesis, Type I |
|
Encephalocele, Short neck, Thoracic platyspondyly, Elbow dislocation, Fused cervical vertebrae, C... |
OMIM:108720 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Elbow dislocation, Anterior vertebral fusion, Shoulder dislocation, Radioulnar synostosis, Genu v... |
OMIM:171480 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae |
OMIM:619227 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... |
ORPHA:1724 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... |
OMIM:151200 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida, Supernumerary vertebrae |
OMIM:193500 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Prominent metopic ridge, Kyphosis, Hip dislocation, Scoliosis, J... |
OMIM:610443 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Joint laxity, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Thoracic hemivertebr... |
OMIM:268310 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Joint stiffness, Achilles tendon... |
ORPHA:98863 |
X-Linked Adrenoleukodystrophy |
|
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis |
ORPHA:43 |
Shashi-Pena Syndrome |
|
Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusi... |
OMIM:617190 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion |
ORPHA:370010 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Vertebral fusion, Sacral dimple, Hyperextensibility of the finger joints, Craniosynostosis, Short... |
OMIM:213980 |
Snakebite Envenomation |
|
Pseudobulbar paralysis, Respiratory paralysis, Paralysis |
ORPHA:449285 |
Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vocal cord paralysis |
OMIM:601650 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Achilles tendon contracture... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Achilles tendon contracture... |
ORPHA:261 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Vocal cord paralysis, Optic atrophy, Increased cup-to-disc ratio, Myoclonus, Scoliosis, Spasticit... |
ORPHA:500144 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis |
ORPHA:757 |
Machado-Joseph Disease Type 1 |
|
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... |
ORPHA:276241 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Six lumbar vertebrae |
OMIM:619122 |
Foodborne Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:228371 |
Duane Retraction Syndrome |
|
Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies, Blepharospasm, Camptodac... |
ORPHA:233 |
Glioblastoma |
|
Paralysis |
ORPHA:360 |
Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... |
ORPHA:1826 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis |
OMIM:617796 |
Fanconi Anemia, Complementation Group I |
|
Fused cervical vertebrae, Optic nerve hypoplasia, Short neck |
OMIM:609053 |
Aicardi Syndrome |
|
Block vertebrae, Spina bifida, Optic disc coloboma, Hemivertebrae, Optic atrophy, Scoliosis, Butt... |
OMIM:304050 |
Tick-Borne Encephalitis |
|
Back pain, Speech apraxia, Stiff neck, Incoordination, Facial palsy, Paralysis, Tremor, Limb pain... |
ORPHA:297 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Stiff neck, Genu recurvatum, Weakness due to upper mot... |
ORPHA:79139 |
Aicardi Syndrome |
|
Block vertebrae, Hemiplegia/hemiparesis, Optic disc coloboma, Optic atrophy, Hypertonia, Scoliosi... |
ORPHA:50 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Cervical hemivertebrae, Facial palsy, Spina bifida, Short neck, Optic nerve h... |
ORPHA:508498 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis |
OMIM:613239 |
Congenital Myopathy 15 |
|
Osteopenia, Vocal cord paralysis, Joint hypermobility, Camptodactyly |
OMIM:620161 |
Postaxial Acrofacial Dysostosis |
|
Cryptorchidism, Supernumerary vertebrae |
OMIM:263750 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling |
OMIM:612852 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paralysis |
OMIM:612300 |
Kbg Syndrome |
|
Vertebral fusion, Short neck, Delayed skeletal maturation, Vertebral arch anomaly, Thoracic kyphosis |
OMIM:148050 |
Machado-Joseph Disease Type 3 |
|
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... |
ORPHA:276244 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Patellar dislocatio... |
ORPHA:3320 |
Duane-Radial Ray Syndrome |
|
Aganglionic megacolon, Facial palsy, Fused cervical vertebrae, Shoulder dislocation, Scoliosis, S... |
OMIM:607323 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck |
ORPHA:1780 |
Laryngeal Abductor Paralysis |
|
Vocal cord paralysis |
OMIM:150260 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Vertebral segmentation defect, Optic disc coloboma, Aganglionic megacolon |
ORPHA:959 |
Myhre Syndrome |
|
Vertebral fusion, Ataxia, Short neck, Joint stiffness, Limitation of joint mobility, Enlarged ver... |
OMIM:139210 |
Glossopharyngeal Neuralgia |
|
Vocal cord paralysis, Cranial nerve compression, Abnormality of the cervical spine, Abnormal glos... |
ORPHA:221098 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Periodic paralysis |
OMIM:188580 |
Amyotrophic Lateral Sclerosis |
|
Spasticity, Paralysis |
ORPHA:803 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Tracheomalacia, Decreased motor nerve conduction velocity, Vocal cord paralysis, Knee flexion con... |
OMIM:615490 |
Andersen-Tawil Syndrome |
|
Joint laxity, Periodic hyperkalemic paralysis, Periodic paralysis, Scoliosis, Periodic hypokalemi... |
ORPHA:37553 |
Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Fused cervical vertebrae, Flat acetabular roof |
OMIM:617159 |
3Q29 Microdeletion Syndrome |
|
Six lumbar vertebrae |
ORPHA:65286 |
Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
Apert Syndrome |
|
Hydrocephalus, Vertebral segmentation defect, Optic atrophy, Cervical C5/C6 vertebrae fusion |
ORPHA:87 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Decreased distal sensory nerve action potential, Kyphoscoliosis, Tremor, Vocal cord paralysis, Op... |
ORPHA:99956 |
Simpson-Golabi-Behmel Syndrome |
|
Vertebral fusion, Congenital hip dislocation, Camptodactyly of finger, Short neck, Accelerated sk... |
ORPHA:373 |
Inhalational Botulism |
|
Paralysis |
ORPHA:254504 |
Poliomyelitis |
|
Stiff neck, Abnormal motor nerve conduction velocity, Paralysis, Paraparesis, Hyperkinetic moveme... |
ORPHA:2912 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Cerebral palsy, Flexion contracture, Hypertonia, Fasciculations |
ORPHA:682 |
Apert Syndrome |
|
Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Delayed epiphyseal ossificat... |
OMIM:101200 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Arthritis, Decreased nerve conduction velocity, Vocal cord paralysis |
ORPHA:397744 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Abnormal autonomic nervous system physiology, Paralysis |
ORPHA:83601 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
Porphyria, Acute Intermittent |
|
Respiratory paralysis, Paralysis |
OMIM:176000 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Hyperextensible hand joints, Camptodactyly |
OMIM:227330 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Joint laxity, Periodic paralysis, Delayed skeletal maturation, Scoliosis, Periodic hypokalemic pa... |
OMIM:170390 |
Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Kyphosis, Delayed skeletal maturation, Hydrocephalus, Hip disloc... |
OMIM:194190 |
Rift Valley Fever |
|
Back pain, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity |
ORPHA:319251 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Kyphoscoliosis, Hemivertebrae, Scoliosis, Umbilical hernia |
ORPHA:97360 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Ataxia, Paralysis, Osteoporosis, Hypertonia, Myoclonus, Scoliosis, Tetraparesis, Tracheomalacia |
OMIM:203700 |
Heterotaxy, Visceral, 1, X-Linked |
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Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Aqueductal stenosis, Myelomen... |
OMIM:306955 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
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Paralysis |
OMIM:242100 |
Paramyotonia Congenita Of Von Eulenburg |
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Periodic hypokalemic paresis |
ORPHA:684 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Papilledema, Paralysis, Oculomotor apraxia, Spastic paraplegia, Hydrocephalus, Limb ataxia, Hyper... |
ORPHA:2072 |
Chops Syndrome |
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Tracheomalacia, Cervical C2/C3 vertebral fusion, Optic atrophy |
OMIM:616368 |
Thrombocytopenia-Absent Radius Syndrome |
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Spina bifida, Patellar aplasia, Hip dislocation, Fused cervical vertebrae, Patellar dislocation, ... |
OMIM:274000 |
Encephalocraniocutaneous Lipomatosis |
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Paralysis, Rigidity, Osteolysis, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticity, Os... |
ORPHA:2396 |
Frontometaphyseal Dysplasia 2 |
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Hip contracture, Congenital hip dislocation, Elbow contracture, Fused cervical vertebrae, Scolios... |
OMIM:617137 |
Thyrotoxic Periodic Paralysis |
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Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis |
ORPHA:79102 |
Cardiospondylocarpofacial Syndrome |
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Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Fused cervical vertebrae, Fusion of... |
OMIM:157800 |
Schinzel-Giedion Syndrome |
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Sacrococcygeal teratoma, Aganglionic megacolon, Kyphoscoliosis, Short neck, Wide anterior fontane... |
ORPHA:798 |
Gitelman Syndrome |
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Ataxia, Chondrocalcinosis, Paralysis |
OMIM:263800 |
Distal Renal Tubular Acidosis |
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Osteomalacia, Paralysis, Rickets, Bone pain, Increased susceptibility to fractures, Reduced bone ... |
ORPHA:18 |
Chromosome 16P13.3 Duplication Syndrome |
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Sacral dimple, Short neck, Hip dislocation, Cervical C5/C6 vertebrae fusion, Camptodactyly, Trach... |
OMIM:613458 |
Osteopetrosis, Autosomal Recessive 3 |
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Osteopetrosis, Periodic hypokalemic paresis, Diaphyseal sclerosis, Optic nerve compression |
OMIM:259730 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Cryptorchidism, Vertebral segmentation defect, Scoliosis, Six lumbar vertebrae, Umbilical hernia |
OMIM:312870 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Wormian bones, Tracheomalacia, Cervical C2/C3 vertebral fusion, Abnormal vertebral morphology, Hi... |
ORPHA:444077 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Fused cervical vertebrae, Coronal craniosynostosis, Contracture of the distal interphalangeal joi... |
ORPHA:83617 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Block vertebrae, Hydrocephalus, Hemivertebrae, Genu valgum, Branchial an... |
OMIM:164210 |
African Trypanosomiasis |
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Papilledema, Abnormal central motor function, Involuntary movements, Paralysis, Tremor, Myelopath... |
ORPHA:3385 |
Gitelman Syndrome |
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Chondrocalcinosis, Gout, Paralysis |
ORPHA:358 |
Elsahy-Waters Syndrome |
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Cervical C2/C3 vertebral fusion, Increased cup-to-disc ratio |
OMIM:211380 |
Pineoblastoma |
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Papilledema, Paralysis |
ORPHA:251909 |
Generalized Arterial Calcification Of Infancy |
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Abnormality of the knee, Osteomalacia, Abnormal calcification of the carpal bones, Fused cervical... |
ORPHA:51608 |
Tyrosinemia, Type I |
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Hypophosphatemic rickets, Periodic paralysis |
OMIM:276700 |
Tsh-Secreting Pituitary Adenoma |
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Osteopenia, Periodic hypokalemic paresis, Osteoporosis, Tremor |
ORPHA:91347 |