| Primary Lateral Sclerosis, Adult, 1 |
|
Spastic gait, Spastic dysarthria, Babinski sign, Spastic tetraparesis, Abnormal upper motor neuro... |
OMIM:611637 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Paralysis, Amyotrophic lateral sclerosis, Parkinsonism |
OMIM:105500 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Kyphosis, Upper limb spasticity, Babinski sign, Spastic paraplegia, Scoliosis, Lower limb spasticity |
OMIM:611225 |
| Scheuermann Disease |
|
Morbus Scheuermann, Kyphosis |
OMIM:181440 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Scoliosis, Vocal cord paralysis |
ORPHA:640 |
| Myasthenic Syndrome, Congenital, 16 |
|
Fatigable weakness, Hyperlordosis, Periodic paralysis |
OMIM:614198 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Abnormal peripheral nervous system synaptic transmission, Fatigable weakness, Facial palsy, Favor... |
ORPHA:353327 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic atrophy, Scoliosis, Kyphosis, Optic disc pallor |
OMIM:617087 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology, Vocal cord paralysis |
OMIM:607641 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Gait ataxia, Abnormal pyramidal sign, Truncal ataxia, Myoclonus, Limb ataxia, Upper motor neuron ... |
ORPHA:95434 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Tremor, Vocal cord paralysis |
OMIM:158580 |
| Juvenile Primary Lateral Sclerosis |
|
Spasticity, Abnormal pyramidal sign, Spastic gait, Spastic dysarthria, Spastic tetraparesis, Abno... |
ORPHA:247604 |
| Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Prolonged miniature endplate currents, Decreased miniature endplate potentials |
OMIM:616321 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Primary Lateral Sclerosis, Juvenile |
|
Spasticity of facial muscles, Spastic gait, Appendicular spasticity, Spastic dysarthria, Pseudobu... |
OMIM:606353 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Paralysis, Scoliosis |
OMIM:605285 |
| Glut1 Deficiency Syndrome 1 |
|
Spasticity, Hemiparesis, Myoclonus, Choreoathetosis, Paralysis, Ataxia, Babinski sign |
OMIM:606777 |
| Myasthenic Syndrome, Congenital, 5 |
|
Fatigable weakness, Hyperlordosis, Prolonged miniature endplate currents, Scoliosis |
OMIM:603034 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Chorea, Spasticity, Extrapyramidal dyskinesia, Hemiparesis, Apraxia, Myoclonus, Choreoathetosis, ... |
ORPHA:71277 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Paralysis, Amyotrophic lateral sclerosis |
OMIM:300857 |
| Horner Syndrome, Congenital |
|
Paralysis, Congenital Horner syndrome |
OMIM:143000 |
| Neuronopathy, Distal Hereditary Motor, Type Iib |
|
Paralysis |
OMIM:608634 |
| Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
| Amyotrophic Lateral Sclerosis |
|
Fatigable weakness of bulbar muscles, Spasticity, Motor neuron atrophy, Fatigable weakness of res... |
ORPHA:803 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Fatigable weakness, Generalized hypotonia due to defect at the neuromuscular junction, Decreased ... |
OMIM:254210 |
| Parastremmatic Dwarfism |
|
Short neck, Scoliosis, Kyphosis |
OMIM:168400 |
| Neuronopathy, Distal Hereditary Motor, Type Iia |
|
Paralysis |
OMIM:158590 |
| Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Gait ataxia, Spasticity, Kyphosis, Limb ataxia, Ataxia, Dysmetria, Scoliosis |
OMIM:610743 |
| Primary Lateral Sclerosis |
|
Progressive spastic paraparesis, Spasticity, Spastic gait, Spastic dysarthria, Upper motor neuron... |
ORPHA:35689 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:2744 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Scoliosis, Decreased miniature endplate potentials, Facial palsy |
OMIM:608930 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity, Kyphosis, Ataxia, Tremor, Scoliosis |
ORPHA:101075 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Fatigable weakness, Generalized hypotonia due to defect at the neuromuscular junction, Decreased ... |
OMIM:605809 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Hyperlordosis, Kyphosis, Vertebral wedging, Ovoid vertebral bodies, Scoliosis, Beaking of vertebr... |
ORPHA:40 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Ataxia, Tremor, Decreased nerve conduction velocity, Scoliosis |
ORPHA:101078 |
| Osteomesopyknosis |
|
Sclerotic vertebral body, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Kyphosis, Paucity of anterior horn motor neurons, Facial diplegia, Short neck, Scoliosis, Neonata... |
OMIM:611890 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Hypokalemic Periodic Paralysis |
|
Periodic hypokalemic paresis, Paralysis, Fatigable weakness of respiratory muscles, Respiratory p... |
ORPHA:681 |
| Idiopathic Camptocormia |
|
Myelitis, Parkinsonism, Spinal canal stenosis, Syringomyelia, Abnormal intervertebral disk morpho... |
ORPHA:1320 |
| Porphyria, Acute Hepatic |
|
Paralysis, Respiratory paralysis |
OMIM:612740 |
| Spinocerebellar Ataxia Type 26 |
|
Truncal ataxia, Progressive gait ataxia, Paralysis, Limb ataxia, Babinski sign, Progressive cereb... |
ORPHA:101112 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology |
DECIPHER:29 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Hyperlordosis, Kyphosis, Spinal rigidity, Short neck, Scoliosis, Frequent falls |
OMIM:300718 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Spastic tetraplegia, Babinski sign, Spastic paraplegia, Abnormal lower motor neuron morphology, S... |
OMIM:607225 |
| Brachyolmia Type 1, Hobaek Type |
|
Back pain, Intervertebral space narrowing, Kyphosis, Squared-off platyspondyly, Short neck, Scoli... |
OMIM:271530 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Hyperlordosis, Abnormal lower motor neuron morphology, Scoliosis |
OMIM:611067 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Abnormal nerve conduction velocity, Kyphosis, Optic atrophy, Paraparesis, Ataxia, Tremor, Scoliosis |
ORPHA:99014 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Spasticity, Abnormal pyramidal sign, Babinski sign, Abnormal lower motor neuron morphology, Amyot... |
OMIM:602099 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Ankle clonus, Kyphosis, Spastic gait, Upper limb spasticity, Hand tremor, Babinski sign, Spastic ... |
OMIM:614409 |
| Lethal Congenital Contracture Syndrome 7 |
|
Facial diplegia, Paralysis |
OMIM:616286 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Decreased compound muscle action potential amplitude, Scoliosis, Kyphosis |
OMIM:618323 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Retrocollis, Spasticity, Spasticity of facial muscles, Spastic diplegia, Spastic gait, Spastic dy... |
OMIM:205100 |
| Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Fatigable weakness of respiratory muscles, Fatigable weakness of neck muscles, Thoracic kyphoscol... |
ORPHA:98913 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Optic atrophy, Neonatal death, Spastic tetraplegia, Kyphosis |
OMIM:618237 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Hyperlordosis, Kyphosis, Spinal rigidity, Scoliosis, Lower limb spasticity |
OMIM:617404 |
| Masa Syndrome |
|
Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Lower limb spasticity |
OMIM:303350 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Fatigable weakness, Prolonged miniature endplate currents |
OMIM:601462 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Poor fine motor coordination, Postural tremor, Optic atrophy, Abnormal spinal cord morphology, Ha... |
ORPHA:99947 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Paralysis |
OMIM:613710 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Froment sign, Vocal cord paralysis |
OMIM:162500 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Fasciculations, Parkinsonism, Apraxia, Abnormality of extrapyramidal motor function, Paraparesis,... |
ORPHA:275872 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Head tremor, Abnormal motor neuron morphology, Intention tremor |
OMIM:613724 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Ataxia, Scoliosis, Lower limb spasticity, Lumbar hyperlordosis |
OMIM:616756 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Eyelid myoclonus, Clumsiness, Myoclonus, Abnormal lower motor neuron morphology, ... |
ORPHA:2590 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Neurogenic bladder, Spastic paraplegia, Tetraparesis, Orthostatic hypotension, Abnormal upper mot... |
OMIM:263570 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Vocal cord paresis, Decreased distal sensory nerve act... |
OMIM:607706 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Extrapyramidal dyskinesia, Parkinsonism, Apraxia, Paraparesis, Abnormal lower motor neuron morpho... |
OMIM:105550 |
| Fetal Akinesia Deformation Sequence 4 |
|
Neonatal death, Prenatal death, Short neck, Kyphosis |
OMIM:618393 |
| Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
| Arnold-Chiari Malformation Type I |
|
Gait ataxia, Abnormality of the eleventh cranial nerve, Cranial nerve compression, Fused cervical... |
ORPHA:268882 |
| Acute Peripheral Arterial Occlusion |
|
Paralysis |
ORPHA:90064 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Degeneration of anterior horn cells, Babinski sign, Abnormal lower motor neuron morphology, Pallo... |
OMIM:602433 |
| Machado-Joseph Disease Type 3 |
|
Spasticity, Abnormal pyramidal sign, Neurogenic bladder, Progressive gait ataxia, Clumsiness, Abn... |
ORPHA:276244 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Abnormal pyramidal sign, Abnormality of the cervical spine, Abnormality of peripheral nerve condu... |
ORPHA:48431 |
| Primary Angiitis Of The Central Nervous System |
|
Pseudopapilledema, Parkinsonism, Hemiparesis, Paraparesis, Paralysis, Ataxia, Tetraparesis |
ORPHA:140989 |
| Van Den Bosch Syndrome |
|
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors |
ORPHA:3417 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb... |
OMIM:609813 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Spasticity, Ankle clonus, Babinski sign, Abnormal lower motor neuron morphology, Tetraparesis, Am... |
OMIM:613954 |
| Gm1-Gangliosidosis, Type Iii |
|
Anterior beaking of lumbar vertebrae, Kyphosis, Ataxia, Slurred speech, Scoliosis, Platyspondyly |
OMIM:230650 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Neonatal death, Widening of cervical spinal canal |
OMIM:253310 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Tongue fasciculations, Ataxia, Kyphosis |
OMIM:620007 |
| Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
| Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Ankle clonus, Abnormal pyramidal sign, Kyphosis, Tremor, Scoliosis, Hypertonia, Brady... |
OMIM:617435 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hyperlordosis, Kyphosis, Babinski sign, Scoliosis, Lower limb spasticity, Fasciculations |
OMIM:615290 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Spastic paraplegia, Upper limb hypertonia, Clonus, Lower limb hypertonia |
OMIM:614898 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis |
OMIM:618453 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Ankle clonus, Kyphosis, Optic atrophy, Babinski sign, Spastic parap... |
OMIM:609541 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal form of the vertebral bodies, Kyphosis, Death in infancy |
ORPHA:1354 |
| Boucher-Neuhauser Syndrome |
|
Gait ataxia, Spasticity, Ataxia, Abnormal upper motor neuron morphology, Intention tremor |
OMIM:215470 |
| Secondary Syringomyelia |
|
Back pain, Fatigable weakness, Pseudobulbar paralysis, Hyperintensity of MRI T2 signal of the spi... |
ORPHA:99857 |
| Bethlem Myopathy 2 |
|
Scoliosis, Kyphosis |
OMIM:616471 |
| Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
| Sandhoff Disease |
|
Ataxia, Kyphosis |
ORPHA:796 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Hyperlordosis, Scoliosis, Kyphosis |
OMIM:600175 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:616437 |
| Stuve-Wiedemann Syndrome 2 |
|
Neonatal death, Scoliosis, Stillbirth, Death in adolescence |
OMIM:619751 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hyperlordosis, Cranial nerve compression, Abnormal motor neuron morphology, Upper motor neuron dy... |
ORPHA:52430 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Poor fine motor coordination, Motor conduction block, Neuropathic spinal arthropathy, Poor gross ... |
ORPHA:99948 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Ankle clonus, Kyphosis, Clumsiness, Ataxia, Knee clonus, Cranial nerve motor loss, Scoliosis, Voc... |
OMIM:211530 |
| Machado-Joseph Disease Type 1 |
|
Spasticity, Abnormal pyramidal sign, Neurogenic bladder, Progressive gait ataxia, Clumsiness, Abn... |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Spasticity, Abnormal pyramidal sign, Neurogenic bladder, Progressive gait ataxia, Clumsiness, Abn... |
ORPHA:276241 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Scoliosis, Kyphosis |
OMIM:300434 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis |
ORPHA:85288 |
| Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Upper limb hypertonia, Kyphosis, Clonus |
ORPHA:319199 |
| Immunoneurologic Disorder, X-Linked |
|
Neonatal death, Spastic paraplegia |
OMIM:300076 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Oculomotor apraxia, Scoliosis, Kyphosis |
ORPHA:3454 |
| Synaptic Congenital Myasthenic Syndromes |
|
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors, Prolonged miniature... |
ORPHA:98915 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Spasticity, Scoliosis, Kyphosis |
ORPHA:2429 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Periodic paralysis, Hand tremor |
OMIM:609153 |
| Typical Nemaline Myopathy |
|
Hyperlordosis, Fatigable weakness of respiratory muscles, Kyphosis, Spinal rigidity, Fatiguable w... |
ORPHA:171436 |
| X-Linked Adrenoleukodystrophy |
|
Progressive spastic paraparesis, Neurogenic bladder, Hemiparesis, Clumsiness, Paraparesis, Paraly... |
ORPHA:43 |
| Hemifacial Atrophy, Progressive |
|
Ataxia, Horner syndrome, Kyphosis |
OMIM:141300 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Ataxia, Scoliosis, Kyphosis |
ORPHA:85317 |
| Familial Cervical Artery Dissection |
|
Paralysis, Facial palsy |
ORPHA:36382 |
| Spinocerebellar Ataxia Type 3 |
|
Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, Vocal cord par... |
ORPHA:98757 |
| Sjögren-Larsson Syndrome |
|
Spasticity, Abnormal pyramidal sign, Spastic diplegia, Kyphosis, Scoliosis |
ORPHA:816 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Scheuermann-like vertebral changes, Cervical spinal canal stenosis, Scoliosis, Kyphosis |
OMIM:301900 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Hyperlordosis, Blepharospasm, Kyphosis, Torticollis, Babinski sign, Tremor, Scoliosis, Hypertonia... |
OMIM:128100 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Scoliosis, Kyphosis |
ORPHA:276630 |
| Brachyolmia Type 3 |
|
Kyphosis, Spinal cord compression, Short neck, Scoliosis, Platyspondyly |
OMIM:113500 |
| Atypical Rett Syndrome |
|
Gait ataxia, Spasticity, Limb myoclonus, Kyphosis, Apraxia, Tremor, Hand apraxia, Scoliosis, Invo... |
ORPHA:3095 |
| Tick-Borne Encephalitis |
|
Back pain, Myelitis, Abnormal glossopharyngeal nerve morphology, Fatigable weakness of respirator... |
ORPHA:297 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Gait ataxia, Chorea, Spasticity, Abnormal pyramidal sign, Kyphosis, Limb hypertonia, Abnormality ... |
ORPHA:500180 |
| Toxin-Mediated Infectious Botulism |
|
Diaphragmatic paralysis, Paralysis, Cerebral palsy |
ORPHA:230800 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Ataxia, Scoliosis, Kyphosis |
OMIM:300861 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Gait ataxia, Vocal cord paresis, Decreased motor nerve conduction velocity, Scoliosis |
OMIM:614895 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Spasticity, Apraxia, Myoclonus, Babinski sign, Abnormal upper motor neuron morphology |
OMIM:221770 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Kyphosis, Spinal rigidity, Torticollis, Short neck, Scoliosis, Frequent falls |
ORPHA:75840 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Spasticity, Optic atrophy, Neurogenic bladder, Myoclonus, Scoliosis, Vocal cord paralysis, Increa... |
ORPHA:500144 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Spasticity, Neonatal death, Death in infancy |
OMIM:613730 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Progressive spastic paraplegia, Spasticity, Kyphosis, Ataxia, Scoliosis, Lower limb spasticity, F... |
ORPHA:464282 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Fatigable weakness, Scoliosis, Kyphosis, Facial palsy |
OMIM:617143 |
| Cdkl5-Deficiency Disorder |
|
Scoliosis, Kyphosis |
ORPHA:505652 |
| Poliomyelitis |
|
Myelitis, Fatigable weakness of respiratory muscles, Paraparesis, Paralysis, Abnormal motor nerve... |
ORPHA:2912 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Thoracolumbar scoliosis, Kyphosis, Platyspondyly |
OMIM:313420 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Spasticity, Ankle clonus, Kyphosis, Clumsiness, Upper motor neuron dysfunction, Ataxia, Babinski ... |
ORPHA:88644 |
| Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Rigidity, Neonatal death, Death in infancy |
OMIM:242500 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Hoffmann sign, Gait ataxia, Spastic gait, Resting tremor, Babinski sign, Spastic paraplegia, Lowe... |
OMIM:601162 |
| Crisponi Syndrome |
|
Hypertonia, Scoliosis, Kyphosis, Death in infancy |
ORPHA:1545 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis |
OMIM:618392 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Spasticity, Cerebral palsy, Kyphosis, Scoliosis, Hypertonia |
ORPHA:352490 |
| Japanese Encephalitis |
|
Opisthotonus, Respiratory paralysis, Paucity of anterior horn motor neurons, Abnormality of extra... |
ORPHA:79139 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Cerebral palsy, Scoliosis, Kyphosis, Hypertonia |
OMIM:615834 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Ataxia, Scoliosis, Kyphosis |
OMIM:618124 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis |
ORPHA:1875 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Scoliosis, Kyphosis |
ORPHA:2598 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Scoliosis, Frequent falls, Facial palsy |
OMIM:606612 |
| Gm2-Gangliosidosis, Ab Variant |
|
Chorea, Exaggerated startle response, Abnormal pyramidal sign, Paralysis, Spastic tetraparesis, H... |
OMIM:272750 |
| Hip Dysplasia, Beukes Type |
|
Scoliosis, Kyphosis |
ORPHA:2114 |
| Weismann-Netter Syndrome |
|
Scoliosis, Horizontal sacrum, Kyphosis |
OMIM:112350 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Vertebral segmentation defect, Scoliosis, Kyphosis, Hypertonia |
ORPHA:2617 |
| Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Vocal cord paralysis |
ORPHA:2375 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:1548 |
| Metatropic Dysplasia |
|
Kyphosis, Abnormal intervertebral disk morphology, Hypoplastic cervical vertebrae, Scoliosis, Abn... |
ORPHA:2635 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Gait ataxia, Abnormal sensory nerve conduction velocity, Kyphosis, Abnormal spinal cord morpholog... |
ORPHA:88628 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Tongue fasciculations, Kyphoscoliosis, Abnormal anterior horn cell morphology, Degeneration of an... |
ORPHA:1145 |
| Ck Syndrome |
|
Hyperlordosis, Scoliosis, Kyphosis |
OMIM:300831 |
| O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis |
OMIM:618512 |
| Sialidosis Type 1 |
|
Kyphosis, Myoclonus, Ataxia, Slurred speech, Tremor, Decreased nerve conduction velocity, Scolios... |
ORPHA:812 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Optic atrophy, Decreased motor nerve conduction velocity, Scoliosis, Vocal cord paresis, Optic di... |
OMIM:601152 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Polyminimyoclonus, Kyphoscoliosis, Tremor, Scoliosis, Vocal cord paresis, Fasciculations |
OMIM:619574 |
| Snakebite Envenomation |
|
Pseudobulbar paralysis, Paralysis, Respiratory paralysis |
ORPHA:449285 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Kyphosis, Fused cervical vertebrae, Spinal cord compression, Short neck |
ORPHA:2522 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Rigidity, Spasticity, Neonatal death, Ataxia |
OMIM:610127 |
| Postencephalitic Parkinsonism |
|
Tremor by anatomical site, Abnormal pyramidal sign, Kyphosis, Resting tremor, Rigidity, Camptocor... |
ORPHA:97349 |
| Hall-Riggs Mental Retardation Syndrome |
|
Irregular vertebral endplates, Scoliosis, Kyphosis, Platyspondyly |
OMIM:234250 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Kleefstra Syndrome 2 |
|
Scoliosis, Kyphosis |
OMIM:617768 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Neonatal death, Limb hypertonia |
OMIM:615918 |
| Metatropic Dysplasia |
|
Relatively short spine, Kyphosis, Caudal appendage, Hypoplasia of the odontoid process, Anisospon... |
OMIM:156530 |
| Zimmermann-Laband Syndrome 3 |
|
Kyphosis |
OMIM:618658 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Periodic paralysis |
OMIM:170400 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hemiplegia, Scoliosis, Kyphosis |
ORPHA:2181 |
| Myopathy, Centronuclear, 2 |
|
Hyperlordosis, Scoliosis, Kyphosis, Facial palsy |
OMIM:255200 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Multinucleated neuron, Neonatal death, Short neck, Stillbirth |
OMIM:236500 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hyperlordosis, Scoliosis, Kyphosis |
OMIM:615761 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Scoliosis, Kyphosis |
OMIM:618234 |
| Baralle-Macken Syndrome |
|
Spasticity, Kyphosis |
OMIM:619255 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Back pain, Kyp... |
OMIM:313400 |
| Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Cerebral palsy, Death in infancy, Death in early adulthood, Hype... |
ORPHA:682 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:1858 |
| Pelizaeus-Merzbacher Disease |
|
Spasticity, Kyphosis, Optic atrophy, Choreoathetosis, Ataxia, Scoliosis |
ORPHA:702 |
| Sialidosis Type 2 |
|
Ataxia, Tremor, Kyphosis |
ORPHA:87876 |
| Mucolipidosis Iii Gamma |
|
Hyperlordosis, Short neck, Scoliosis, Kyphosis |
OMIM:252605 |
| Wieacker-Wolff Syndrome |
|
Hyperlordosis, Spasticity, Kyphosis, Apraxia, Oculomotor apraxia, Short neck, Scoliosis, Facial p... |
OMIM:314580 |
| Foodborne Botulism |
|
Diaphragmatic paralysis, Paralysis, Cerebral palsy |
ORPHA:228371 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:178148 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Spinal rigidity, Facial palsy, Kyphosis, Neuropathic spinal arthropathy |
OMIM:615084 |
| Marinesco-Sjogren Syndrome |
|
Gait ataxia, Spasticity, Kyphosis, Limb ataxia, Ataxia, Scoliosis |
OMIM:248800 |
| Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis |
ORPHA:757 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity, Kyphosis |
OMIM:618138 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Abnormal autonomic nervous system physiology, Myoclonus, Paralysis |
ORPHA:83601 |
| Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Scoliosis, Hemivertebrae, Neonatal death |
ORPHA:85284 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of thoracic vertebral bodies, Neonatal death, Absent ossification of cervical... |
OMIM:601376 |
| Osteogenesis Imperfecta, Type Ix |
|
Scoliosis, Kyphosis, Platyspondyly |
OMIM:259440 |
| Hypomelanosis Of Ito |
|
Scoliosis, Kyphosis |
OMIM:300337 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphoscoliosis, Scoliosis, Kyphosis |
OMIM:618484 |
| Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
| Glioblastoma |
|
Paralysis |
ORPHA:360 |
| Paragangliomas 2 |
|
Vocal cord paralysis |
OMIM:601650 |
| Mucopolysaccharidosis, Type Iva |
|
Anterior beaking of lumbar vertebrae, Hyperlordosis, Kyphosis, Hypoplasia of the odontoid process... |
OMIM:253000 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Hyperlordosis, Kyphosis, Torticollis, Scoliosis, Facial palsy |
OMIM:181405 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Abnormality of extrapyramidal motor function, Myoclonus, Spastic tetraparesis, ... |
OMIM:605711 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hyperlordosis, Back pain, Kyphosis, Spinal rigidity, Short neck, Scoliosis, Vocal cord paralysis |
ORPHA:98863 |
| Jaberi-Elahi Syndrome |
|
Gait ataxia, Kyphosis, Appendicular spasticity, Optic atrophy, Choreoathetosis, Dysmetria, Tremor... |
OMIM:617988 |
| Srd5A3-Cdg |
|
Ataxia, Optic atrophy, Kyphosis, Abnormal sacrum morphology |
ORPHA:324737 |
| Mcdonough Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:2471 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Periodic paralysis, Tremor |
OMIM:613239 |
| 4Q21 Microdeletion Syndrome |
|
Tremor, Short neck, Scoliosis, Kyphosis |
ORPHA:238750 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Scoliosis, Kyphosis |
OMIM:130060 |
| Flynn-Aird Syndrome |
|
Ataxia, Scoliosis, Kyphosis |
ORPHA:2047 |
| Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Scoliosis, Frequent falls |
OMIM:607155 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Kyphosis, Spinal rigidity, Spinal cord compression, Short neck, Cervical instability, ... |
ORPHA:94068 |
| Bruck Syndrome 1 |
|
Vertebral wedging, Scoliosis, Kyphosis, Platyspondyly |
OMIM:259450 |
| Emery-Dreifuss Muscular Dystrophy |
|
Hyperlordosis, Back pain, Kyphosis, Spinal rigidity, Scoliosis, Vocal cord paralysis |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hyperlordosis, Back pain, Kyphosis, Spinal rigidity, Scoliosis, Vocal cord paralysis |
ORPHA:98853 |
| Gm1-Gangliosidosis, Type I |
|
Kyphosis, Death in infancy, Hypoplastic vertebral bodies, Short neck, Scoliosis, Hypertonia, Beak... |
OMIM:230500 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Spasticity, Kyphosis, Oculomotor apraxia, Short neck, Scoliosis, Facial palsy |
OMIM:301041 |
| Zimmermann-Laband Syndrome 2 |
|
Short neck, Kyphosis |
OMIM:616455 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paralysis |
OMIM:612300 |
| Arthrogryposis, Distal, Type 5 |
|
Scoliosis, Kyphosis, Hypertonia |
OMIM:108145 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal upper motor neuron morphology, Decreased nerve conduction velocity, Abnormal lower motor... |
OMIM:606070 |
| Myopathic Ehlers-Danlos Syndrome |
|
Hyperlordosis, Kyphoscoliosis, Scoliosis, Kyphosis |
ORPHA:536516 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Increased intervertebral space, Kyphosis, Thoracic kyphosis, Vertebral wedging, Hypoplasia of the... |
ORPHA:93314 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Kyphosis, Hypoplasia of the odontoid process, Atlantoaxial instability, Short neck, Ovoid vertebr... |
OMIM:183900 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Scoliosis, Kyphosis |
OMIM:619797 |
| Rett Syndrome |
|
Gait ataxia, Spasticity, Gait apraxia, Kyphosis, Truncal ataxia, Scoliosis |
OMIM:312750 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Death in early adulthood, Scoliosis, Kyphosis |
ORPHA:79107 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperlordosis, Kyphosis |
ORPHA:3085 |
| Rift Valley Fever |
|
Back pain, Hemiparesis, Paraparesis, Paralysis, Miscarriage, Decerebrate rigidity |
ORPHA:319251 |
| Fetal Gaucher Disease |
|
Hypertonia, Neonatal death, Stillbirth, Death in infancy |
ORPHA:85212 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Scoliosis, Kyphosis |
OMIM:300676 |
| Mucopolysaccharidosis, Type Ivb |
|
Hyperlordosis, Kyphosis, Hypoplasia of the odontoid process, Cervical subluxation, Ataxia, Ovoid ... |
OMIM:253010 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Poor fine motor coordination, Optic atrophy, Decreased distal sensory nerve action potential, Kyp... |
ORPHA:99956 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Ankle clonus, Kyphosis, Dysdiadochokinesis, Optic atrophy, Oculomotor apraxia, Babinski sign, Spa... |
ORPHA:171629 |
| Abcd Syndrome |
|
Aganglionic megacolon, Neonatal death, Total intestinal aganglionosis, Abnormal auditory evoked p... |
OMIM:600501 |
| Lateral Meningocele Syndrome |
|
Biconcave vertebral bodies, Vertebral fusion, Kyphosis, Neurogenic bladder, Syringomyelia, Short ... |
OMIM:130720 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Spasticity, Spastic tetraplegia, Kyphosis, Rigidity, Optic atrophy, Ataxia, Platyspondyly, Sclero... |
OMIM:618476 |
| Becker Nevus Syndrome |
|
Spina bifida occulta, Scoliosis, Kyphosis |
ORPHA:64755 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Periodic paralysis |
OMIM:188580 |
| Alpha-Mannosidosis |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:61 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Abnormal pyramidal sign, Optic atrophy, Parkinsonism, Abnormality of extrapyramidal m... |
OMIM:614298 |
| Smith-Mccort Dysplasia 1 |
|
Kyphosis, Hypoplasia of the odontoid process, Scoliosis, Platyspondyly, Beaking of vertebral bodi... |
OMIM:607326 |
| Idiopathic Juvenile Osteoporosis |
|
Vertebral compression fracture, Kyphosis |
ORPHA:85193 |
| Pseudoachondroplasia |
|
Kyphosis, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Cervical cord compression... |
OMIM:177170 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Gait ataxia, Tremor, Kyphosis |
OMIM:300354 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Kyphosis, Spinal rigidity, Torticollis, Scoliosis, Facial palsy |
OMIM:254090 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Scoliosis, Kyphosis |
OMIM:300280 |
| Frank-Ter Haar Syndrome |
|
Beaking of vertebral bodies, Scoliosis, Kyphosis |
ORPHA:137834 |
| Diastrophic Dysplasia |
|
Kyphosis, Hypoplastic cervical vertebrae, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:628 |
| Non-Functioning Paraganglioma |
|
Tremor, Cranial nerve compression, Vocal cord paralysis |
ORPHA:94080 |
| Arthrogryposis, Distal, Type 4 |
|
Lumbar scoliosis, Torticollis, Scoliosis, Kyphosis |
OMIM:609128 |
| Inhalational Botulism |
|
Paralysis |
ORPHA:254504 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Kyphosis, Vertebral segmentation defect, Spina bifida occulta, Abnormal intervertebral disk morph... |
ORPHA:2311 |
| Gm1 Gangliosidosis |
|
Hyperlordosis, Spasticity, Kyphosis, Optic atrophy, Abnormality of extrapyramidal motor function,... |
ORPHA:354 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis |
OMIM:615490 |
| Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
| Andersen-Tawil Syndrome |
|
Periodic paralysis, Periodic hypokalemic paresis, Scoliosis, Periodic hyperkalemic paralysis |
ORPHA:37553 |
| Rhizomelic Syndrome, Urbach Type |
|
Kyphosis, Short neck, Abnormal form of the vertebral bodies |
ORPHA:3098 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Spastic tetraplegia, Death in infancy, Myoclonus, Scoliosis, Death in adolescence, Clonus, Neonat... |
OMIM:619055 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
| Bruck Syndrome |
|
Scoliosis, Kyphosis, Platyspondyly |
ORPHA:2771 |
| Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in childhood, Death in infancy |
OMIM:619334 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Vocal cord paralysis, Decreased nerve conduction velocity |
ORPHA:397744 |
| Ruvalcaba Syndrome |
|
Scoliosis, Kyphosis |
OMIM:180870 |
| Alg1-Cdg |
|
Scoliosis, Kyphosis |
ORPHA:79327 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:3191 |
| Laryngeal Abductor Paralysis |
|
Vocal cord paralysis |
OMIM:150260 |
| Clark-Baraitser syndrome |
|
Scoliosis, Kyphosis |
OMIM:300602 |
| Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Spina bifida occulta, Short neck, Kyphosis |
ORPHA:2983 |
| Weismann-Netter Syndrome |
|
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
| Lateral Meningocele Syndrome |
|
Hyperlordosis, Kyphosis, Syringomyelia, Short neck, Scoliosis, Abnormal form of the vertebral bod... |
ORPHA:2789 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Kyphosis |
OMIM:618272 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Spinal rigidity, Kyphosis, Neuropathic spinal arthropathy |
ORPHA:352447 |
| Myofibrillar Myopathy 10 |
|
Kyphosis |
OMIM:619040 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Vocal cord paresis, Scoliosis, Decreased distal sensory nerve action potential |
OMIM:606071 |
| Fountain Syndrome |
|
Kyphosis, Spina bifida, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3219 |
| Glossopharyngeal Neuralgia |
|
Abnormality of the cervical spine, Cranial nerve compression, Vocal cord paralysis, Abnormal glos... |
ORPHA:221098 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Spina bifida occulta, Kyphosis, Scoliosis, Sacral dimple |
OMIM:618291 |
| Porphyria, Acute Intermittent |
|
Paralysis, Respiratory paralysis |
OMIM:176000 |
| Atkin-Flaitz Syndrome |
|
Scoliosis, Kyphosis |
OMIM:300431 |
| Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly |
ORPHA:2655 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:1883 |
| Alexander Disease |
|
Chorea, Hyperlordosis, Spasticity, Abnormal pyramidal sign, Tetraplegia, Kyphosis, Abnormal auton... |
ORPHA:58 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thoracolumbar scoliosis, Hyperlordosis, Spasticity, Kyphosis, Ataxia, Scoliosis |
OMIM:618443 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Hemivertebrae, Abnormal form... |
ORPHA:2916 |
| Congenital Myopathy 15 |
|
Vocal cord paralysis |
OMIM:620161 |
| Thyrotoxic Periodic Paralysis |
|
Abnormality of peripheral nerve conduction, Respiratory paralysis, Paralysis, Tremor, Tetraplegia... |
ORPHA:79102 |
| Cockayne Syndrome Type 2 |
|
Limb hypertonia, Kyphosis, Ataxia, Scoliosis, Lower limb spasticity |
ORPHA:90322 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis |
OMIM:242100 |
| Trisomy 20P |
|
Kyphosis, Spina bifida, Vertebral segmentation defect, Abnormal autonomic nervous system physiolo... |
ORPHA:261318 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Spasticity, Kyphosis, Myoclonus, Babinski sign, Scoliosis |
ORPHA:364028 |
| 3C Syndrome |
|
Kyphosis, Death in infancy, Optic atrophy, Short neck, Scoliosis, Hemivertebrae |
ORPHA:7 |
| Stickler Syndrome, Type I |
|
Kyphosis, Spondylolisthesis, Scoliosis, Platyspondyly, Beaking of vertebral bodies, Morbus Scheue... |
OMIM:108300 |
| Trisomy 9P |
|
Sacral dimple, Short neck, Scoliosis, Kyphosis |
ORPHA:236 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Hyperlordosis, Back pain, Kyphosis, Spinal rigidity, Scoliosis |
ORPHA:98855 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Periodic hypokalemic paresis |
ORPHA:684 |
| Fucosidosis |
|
Anterior beaking of lumbar vertebrae, Spasticity, Abnormal pyramidal sign, Spastic tetraplegia, K... |
ORPHA:349 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Vocal cord paresis, Decreased nerve conduction velocity, Amyotrophic lateral sclerosis |
ORPHA:600 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Periodic paralysis, Periodic hypokalemic paresis, Scoliosis |
OMIM:170390 |
| Developmental And Epileptic Encephalopathy 89 |
|
Spasticity, Tetraparesis, Scoliosis, Hypertonia, Hyperkinetic movements, Neonatal death, Death in... |
OMIM:619124 |
| Coffin-Lowry Syndrome |
|
Kyphosis, Progressive spasticity, Optic atrophy, Death in early adulthood, Scoliosis, Hypertonia,... |
ORPHA:192 |
| Desbuquois Dysplasia 1 |
|
Hyperlordosis, Kyphosis, Short neck, Scoliosis, Platyspondyly |
OMIM:251450 |
| Schaaf-Yang Syndrome |
|
Scoliosis, Kyphosis |
OMIM:615547 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Spastic tetraplegia, Limb hypertonia, Kyphosis |
OMIM:619909 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Short neck, Kyphosis |
OMIM:608776 |
| Triosephosphate Isomerase Deficiency |
|
Spasticity, Kyphosis, Death in infancy, Tremor, Death in adolescence, Optic disc pallor |
OMIM:615512 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Myoclonus, Paralysis, Ataxia, Tetraparesis, Scoliosis, Hypertonia |
OMIM:203700 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Increased intervertebral space, Abnormality of the cervical spine, Severe platyspo... |
ORPHA:508533 |
| Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Platyspondyly |
ORPHA:93274 |
| Urban-Rogers-Meyer Syndrome |
|
Short neck, Kyphosis |
ORPHA:3409 |
| Trisomy 13 |
|
Optic atrophy, Scoliosis, Kyphosis |
ORPHA:3378 |
| Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lumbar vertebrae, Kyphosis, Hypoplasia of the odontoid process, Short neck, S... |
OMIM:253220 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Gait ataxia, Optic atrophy, Neuropathic spinal arthropathy, Decreased motor nerve conduction velo... |
ORPHA:99949 |
| Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Kyphosis, Kyphoscoliosis, Scoliosis, Platyspondyly, Abnormality of the curvature of the vertebral... |
ORPHA:93360 |
| Encephalocraniocutaneous Lipomatosis |
|
Spasticity, Hemiparesis, Rigidity, Paralysis, Hemiplegia, Hypertonia, Tetraplegia |
ORPHA:2396 |
| Achondroplasia |
|
Kyphosis, Spinal canal stenosis, Cervical spinal canal stenosis, Thoracolumbar kyphosis, Lumbar h... |
ORPHA:15 |
| Pelger-Huet Anomaly |
|
Kyphosis, Lower limb hypertonia |
OMIM:169400 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Myoclonus, Neonatal death, Ataxia, Optic disc pallor |
OMIM:619167 |
| Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Kyphosis, Spinal canal stenosis, Short neck, Scoliosis, Platyspondyly |
ORPHA:582 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Aganglionic megacolon, Kyphosis |
ORPHA:261222 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Abnormal pyramidal sign, Kyphosis, Optic atrophy, Rigidity, Abnorma... |
OMIM:617527 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Oculomotor apraxia, Paralysis, Limb ataxia, Spastic paraplegia, Scoliosis, Hypertonia, Papilledem... |
ORPHA:2072 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Short neck, Kyphosis |
ORPHA:3082 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Kyphosis, Spinal rigidity, Abnormal intervertebral disk morphology, Scoliosis, Abnormality of the... |
ORPHA:2062 |
| Shashi-Pena Syndrome |
|
Limb hypertonia, Scoliosis, Cervical C2/C3 vertebral fusion, Kyphosis |
OMIM:617190 |
| Ruvalcaba Syndrome |
|
Scoliosis, Abnormality of vertebral epiphysis morphology, Kyphosis |
ORPHA:3121 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Tremor, Scoliosis, Kyphosis |
OMIM:617061 |
| Osteogenesis Imperfecta, Type Iii |
|
Biconcave vertebral bodies, Scoliosis, Kyphosis |
OMIM:259420 |
| Micro Syndrome |
|
Spasticity, Optic atrophy, Scoliosis, Kyphosis |
ORPHA:2510 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Sacral dimple, Abnormality of the vertebral column, Neonatal death, Abnormal vertebral morphology |
OMIM:314390 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Platyspondyly, Neonatal death, Kyphosis, Lumbar hyperlordosis |
OMIM:616482 |
| Rett Syndrome, Congenital Variant |
|
Chorea, Spasticity, Kyphosis, Apraxia, Scoliosis, Athetosis |
OMIM:613454 |
| 15Q24 Microdeletion Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:94065 |
| 3M Syndrome |
|
Hyperlordosis, Increased vertebral height, Kyphosis, Short neck, Scoliosis |
ORPHA:2616 |
| Marfanoid Habitus With Situs Inversus |
|
Scoliosis, Kyphosis |
OMIM:609008 |
| Emanuel Syndrome |
|
Sacral dimple, Torticollis, Scoliosis, Kyphosis |
OMIM:609029 |
| Afibrinogenemia, Congenital |
|
Neonatal death, Death in childhood, Death in infancy, Death in adolescence |
OMIM:202400 |
| Cono-Spondylar Dysplasia |
|
Poor coordination, Short neck, Scoliosis, Kyphosis |
ORPHA:420794 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Scoliosis, Kyphosis |
OMIM:615381 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Limb hypertonia, Kyphosis, Rigidity, Abnormality of extrapyramidal ... |
ORPHA:521426 |
| Progressive Non-Fluent Aphasia |
|
Apraxia, Abnormality of extrapyramidal motor function, Abnormal lower motor neuron morphology, Pa... |
ORPHA:100070 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis, Optic atrophy, Ataxia, Dysmetria, Head titubation, Intention tremor |
OMIM:619708 |
| Molybdenum Cofactor Deficiency, Complementation Group C |
|
Neonatal death, Limb hypertonia, Hypertonia |
OMIM:615501 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Spasticity, Kyphosis, Spastic diplegia, Ataxia, Short neck, Tremor, Scoliosis, Pro... |
OMIM:300966 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Kyphosis, Death in infancy, Ataxia, Dysmetria, Tremor, Death in childhood, Intention tremor |
OMIM:212065 |
| Dyggve-Melchior-Clausen Disease |
|
Kyphosis, Thoracic kyphosis, Hypoplasia of the odontoid process, Short neck, Scoliosis, Platyspon... |
OMIM:223800 |
| 2P15P16.1 Microdeletion Syndrome |
|
Optic atrophy, Kyphosis, Optic nerve hypoplasia, Scoliosis, Lower limb spasticity, Facial palsy |
ORPHA:261349 |
| 19P13.12 Microdeletion Syndrome |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:254346 |
| 15Q14 Microdeletion Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:261190 |
| Pycnodysostosis |
|
Hyperlordosis, Spondylolysis, Kyphosis, Upper motor neuron dysfunction, Spondylolisthesis, Scoliosis |
ORPHA:763 |
| Mucopolysaccharidosis, Type Ii |
|
Papilledema, Short neck, Cervical cord compression, Kyphosis |
OMIM:309900 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Scoliosis, Kyphosis |
ORPHA:261144 |
| Dysostosis, Stanescu Type |
|
Hyperlordosis, Short neck, Scoliosis, Kyphosis |
ORPHA:1798 |
| Megalocornea-Intellectual Disability Syndrome |
|
Ataxia, Scoliosis, Kyphosis |
ORPHA:2479 |
| Orofaciodigital Syndrome Iii |
|
Myoclonus, Kyphosis |
OMIM:258850 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hyperlordosis, Scoliosis, Kyphosis |
OMIM:617821 |
| Acro-Renal-Mandibular Syndrome |
|
Kyphosis, Butterfly vertebrae, Short neck, Scoliosis, Hemivertebrae |
ORPHA:958 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Kyphosis |
OMIM:603387 |
| Gitelman Syndrome |
|
Paralysis, Ataxia |
OMIM:263800 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Spasticity, Scoliosis, Kyphosis |
OMIM:616449 |
| Cowden Syndrome 5 |
|
Scoliosis, Kyphosis, Intention tremor |
OMIM:615108 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Tremor, Short neck, Scoliosis, Kyphosis |
ORPHA:85293 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Scoliosis, Kyphosis |
ORPHA:404440 |
| Marden-Walker Syndrome |
|
Short neck, Scoliosis, Kyphosis |
OMIM:248700 |
| African Trypanosomiasis |
|
Myelitis, Hemiparesis, Choreoathetosis, Paralysis, Miscarriage, Abnormal central motor function, ... |
ORPHA:3385 |
| Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly |
ORPHA:1860 |
| Marshall-Smith Syndrome |
|
Kyphosis, Thoracic kyphosis, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Cervic... |
OMIM:602535 |
| Anaplastic Thyroid Carcinoma |
|
Vocal cord paralysis |
ORPHA:142 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Vertebral segmentation defect, Scoliosis, Kyphosis |
ORPHA:1005 |
| Cowden Syndrome 6 |
|
Scoliosis, Kyphosis, Intention tremor |
OMIM:615109 |
| Cole-Carpenter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2050 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Fused cervical vertebrae, Vertebral segmentation defect, Abnormal spi... |
ORPHA:1724 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Tremor, Cranial nerve compression, Vocal cord paralysis |
ORPHA:276621 |
| Harrod Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:2115 |
| Microphthalmia, Lenz Type |
|
Hyperlordosis, Optic disc coloboma, Scoliosis, Kyphosis |
ORPHA:568 |
| Koolen-De Vries Syndrome |
|
Vertebral segmentation defect, Vertebral fusion, Scoliosis, Kyphosis |
ORPHA:96169 |
| Holt-Oram Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:392 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Gait ataxia, Tremor, Scoliosis, Kyphosis |
ORPHA:476126 |
| Paragangliomas 3 |
|
Vocal cord paralysis |
OMIM:605373 |
| Distal Tetrasomy 15Q |
|
Syringomyelia, Scoliosis, Kyphosis |
ORPHA:314588 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Optic atrophy, Scoliosis, Kyphosis |
OMIM:618493 |
| Mucopolysaccharidosis Type 6 |
|
Short neck, Ovoid vertebral bodies, Kyphosis |
ORPHA:583 |
| Spondyloperipheral Dysplasia |
|
Irregular vertebral endplates, Kyphosis, Short neck, Ovoid vertebral bodies, Platyspondyly |
OMIM:271700 |
| Cole-Carpenter Syndrome 2 |
|
Kyphosis, Platyspondyly |
OMIM:616294 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Spasticity, Kyphosis, Kyphoscoliosis, Scoliosis, Hemivertebrae |
OMIM:301040 |
| Osteogenesis Imperfecta, Type Iv |
|
Scoliosis, Kyphosis, Biconcave flattened vertebrae |
OMIM:166220 |
| Hurler-Scheie Syndrome |
|
Scoliosis, Kyphosis |
OMIM:607015 |
| 16Q24.3 Microdeletion Syndrome |
|
Scoliosis, Kyphosis, Optic nerve hypoplasia |
ORPHA:261250 |
| Pineoblastoma |
|
Papilledema, Paralysis |
ORPHA:251909 |
| Weaver Syndrome |
|
Poor fine motor coordination, Spasticity, Kyphosis, Slurred speech, Scoliosis, Hypertonia |
OMIM:277590 |
| Schwartz-Jampel Syndrome |
|
Hyperlordosis, Blepharospasm, Kyphosis, Death in infancy, Spinal rigidity, Abnormally straight sp... |
ORPHA:800 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Periodic hypokalemic paresis, Optic nerve compression |
OMIM:259730 |
| Cowden Syndrome 1 |
|
Scoliosis, Kyphosis, Intention tremor |
OMIM:158350 |
| Paragangliomas 1 |
|
Vocal cord paralysis |
OMIM:168000 |
| Spondyloenchondrodysplasia |
|
Chorea, Spasticity, Kyphosis, Platyspondyly |
ORPHA:1855 |
| Genitopalatocardiac Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:2075 |
| Hurler Syndrome |
|
Biconcave vertebral bodies, Kyphosis, Hypoplasia of the odontoid process, Short neck, C1-C2 sublu... |
OMIM:607014 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:2215 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
| Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Kyphosis, Optic atrophy, Abnormal vertebral morphology, Ataxia, Tethered cord, Sco... |
ORPHA:280 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Scoliosis, Kyphosis |
OMIM:619951 |
| Koolen-De Vries Syndrome |
|
Sacral dimple, Vertebral fusion, Kyphosis, Spondylolisthesis, Scoliosis |
OMIM:610443 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Short neck, Scoliosis, Kyphosis |
ORPHA:140 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Biconcave vertebral bodies, Vertebral compression fracture, Kyphosis |
OMIM:219090 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Ovoid vertebral bodies, Platyspondyly, Thoracic... |
OMIM:618019 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Sacroiliac arthritis, Back pain, Kyphosis |
OMIM:106300 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Kyphosis, Dural ectasia |
OMIM:616914 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Scoliosis, Kyphosis |
OMIM:177850 |
| 2Q31.1 Microdeletion Syndrome |
|
Kyphosis, Vertebral segmentation defect, Short neck, Scoliosis, Optic disc coloboma |
ORPHA:251014 |
| Cohen Syndrome |
|
Optic atrophy, Scoliosis, Kyphosis |
ORPHA:193 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Hyperlordosis, Aganglionic megacolon, Scoliosis, Kyphosis |
OMIM:162300 |
| Alstrom Syndrome |
|
Scoliosis, Kyphosis |
OMIM:203800 |
| Alkaptonuria |
|
Low back pain, Vertebral fusion, Intervertebral disc degeneration, Kyphosis |
OMIM:203500 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Tremor, Cranial nerve compression, Vocal cord paralysis |
ORPHA:29072 |
| Camurati-Engelmann Disease |
|
Hyperlordosis, Optic nerve compression, Kyphosis, Optic atrophy, Ataxia, Scoliosis, Abnormality o... |
ORPHA:1328 |
| Noonan Syndrome 14 |
|
Short neck, Kyphosis |
OMIM:619745 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Biconcave vertebral bodies, Severe platyspondyly, Kyphosis, Kyphoscoliosis, Scoliosis, Platyspond... |
OMIM:259770 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Scoliosis, Kyphosis |
OMIM:617602 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis |
OMIM:219080 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Ataxia, Lower limb spasticity, Vocal cord paralysis, Hyperkinetic movements, Athetoid cerebral palsy |
OMIM:617799 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis |
OMIM:610475 |
| Cockayne Syndrome |
|
Spasticity, Kyphosis, Neurogenic bladder, Limb hypertonia, Progressive gait ataxia, Optic atrophy... |
ORPHA:191 |
| Distal Renal Tubular Acidosis |
|
Paralysis |
ORPHA:18 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Spasticity, Scoliosis, Kyphosis |
ORPHA:464738 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis |
OMIM:300942 |
| Classic Homocystinuria |
|
Optic atrophy, Hemiplegia/hemiparesis, Scoliosis, Kyphosis |
ORPHA:394 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Thoracolumbar scoliosis, Kyphosis, Anterior clefting of vertebral bodies, Fused cervical vertebra... |
OMIM:265000 |
| Osteogenesis Imperfecta, Type Viii |
|
Vertebral compression fracture, Scoliosis, Kyphosis, Platyspondyly |
OMIM:610915 |
| Cerebrocostomandibular Syndrome |
|
Spina bifida, Kyphosis, Death in infancy |
ORPHA:1393 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Sacral dimple, Hyperlordosis, Kyphosis, Optic atrophy, Spina bifida, Spondylolisthesis, Dural ect... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Sacral dimple, Hyperlordosis, Kyphosis, Optic atrophy, Spina bifida, Spondylolisthesis, Dural ect... |
ORPHA:363958 |
| 16P13.2 Microdeletion Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:500055 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis |
OMIM:619244 |
| Cockayne Syndrome Type 3 |
|
Abnormality of peripheral nerve conduction, Kyphosis, Neurogenic bladder, Scoliosis, Optic disc p... |
ORPHA:90324 |
| Prader-Willi Syndrome |
|
Poor fine motor coordination, Poor gross motor coordination, Scoliosis, Kyphosis |
OMIM:176270 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Spasticity, Cerebral palsy, Kyphosis, Spastic diplegia, Spastic tetraplegia, Torticoll... |
OMIM:619475 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Death in childhood, Scoliosis, Kyphosis |
OMIM:619005 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Gait ataxia, Hyperlordosis, Scoliosis, Kyphosis |
OMIM:617011 |
| Cockayne Syndrome B |
|
Optic atrophy, Kyphosis, Abnormal auditory evoked potentials, Ataxia, Tremor, Decreased nerve con... |
OMIM:133540 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Sacral dimple, Thoracic scoliosis, Kyphoscoliosis, Kyphosis |
ORPHA:536532 |
| Gaucher Disease Type 1 |
|
Vertebral compression fracture, Kyphosis |
ORPHA:77259 |
| Gitelman Syndrome |
|
Paralysis |
ORPHA:358 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Intervertebral space narrowing, Irregular vertebral endplates, Kyphosis, Narrow vertebral interpe... |
OMIM:143095 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Scoliosis, Kyphosis |
OMIM:619557 |
| Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Kyphosis, Death in infancy, Vertebral segmentation defect, Short neck, Scoliosis |
ORPHA:1507 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hemivertebrae, Short neck, Scoliosis, Kyphosis |
OMIM:618223 |
| Hajdu-Cheney Syndrome |
|
Biconcave vertebral bodies, Kyphosis, Syringomyelia, Short neck, Scoliosis, Hypoplastic 5th lumba... |
ORPHA:955 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Short neck, Scoliosis, Kyphosis |
OMIM:616894 |
| Schinzel-Giedion Syndrome |
|
Spasticity, Aganglionic megacolon, Kyphoscoliosis, Short neck, Scoliosis, Hypertonia, Vocal cord ... |
ORPHA:798 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis |
OMIM:610489 |
| X-Linked Intellectual Disability, Snyder Type |
|
Kyphoscoliosis, Involuntary movements, Kyphosis, Myoclonus |
ORPHA:3063 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:398069 |
| Mgat2-Cdg |
|
Scoliosis, Kyphosis |
ORPHA:79329 |
| Cleidocranial Dysplasia 1 |
|
Spondylolysis, Kyphosis, Syringomyelia, Spondylolisthesis, Scoliosis |
OMIM:119600 |
| Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2769 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Abnormality of the cervical spine, Scoliosis, Kyphosis |
ORPHA:464311 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Kyphosis |
OMIM:239000 |
| Osteogenesis Imperfecta |
|
Biconcave vertebral bodies, Kyphosis, Cervical kyphosis, Ataxia, Syringomyelia, Enlarged vertebra... |
ORPHA:666 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Short neck, Scoliosis, Kyphosis, Hypertonia |
OMIM:619194 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Scoliosis, Kyphosis |
OMIM:618050 |
| Smith-Lemli-Opitz Syndrome |
|
Kyphosis, Optic atrophy, Aganglionic megacolon, Short neck, Scoliosis, Hypertonia, Abnormal form ... |
ORPHA:818 |
| Mend Syndrome |
|
Sacral dimple, Abnormal auditory evoked potentials, Limb hypertonia, Kyphosis |
ORPHA:401973 |
| Cockayne Syndrome A |
|
Optic atrophy, Kyphosis, Abnormal auditory evoked potentials, Ataxia, Tremor, Decreased nerve con... |
OMIM:216400 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Abnormality of the cervical spine, Scoliosis, Kyphosis |
ORPHA:464306 |
| Frank-Ter Haar Syndrome |
|
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Prominent coccyx |
OMIM:249420 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Kyphosis, Ataxia, Kyphoscoliosis, Tremor, Scoliosis, Speech apraxia |
OMIM:300967 |
| Cdags Syndrome |
|
Kyphosis |
OMIM:603116 |
| Tyrosinemia, Type I |
|
Periodic paralysis |
OMIM:276700 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Scoliosis, Kyphosis |
OMIM:619718 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:1969 |
| Ramon Syndrome |
|
Optic disc pallor, Scoliosis, Kyphosis |
OMIM:266270 |
| Monosomy 9Q22.3 |
|
Abnormality of the vertebral column, Short neck, Kyphosis |
ORPHA:77301 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Gait ataxia, Kyphoscoliosis, Kyphosis, Lumbar hyperlordosis |
ORPHA:457359 |
| Zttk Syndrome |
|
Spasticity, Optic atrophy, Kyphosis, Scoliosis, Hemivertebrae |
OMIM:617140 |
| Cardiofacioneurodevelopmental Syndrome |
|
Kyphosis |
OMIM:619123 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis |
OMIM:609944 |
| Aspartylglucosaminuria |
|
