Gene Summary

Name:
cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)
Synonyms:
Achr-1,  Acra

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Chrna1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Chrna1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Chrna1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Scoliosis, Decreased miniature endplate potentials, Facial palsy OMIM:608930
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents OMIM:601462
Postsynaptic Congenital Myasthenic Syndromes
Scoliosis, Fatigable weakness of respiratory muscles, Thoracic kyphoscoliosis, Decreased miniatur... ORPHA:98913
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature OMIM:253290

The table below shows human diseases predicted to be associated to Chrna1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Abnormal upper motor neuron morphology, Spastic gait, Babinski sign, Spasti... OMIM:611637
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Spastic paraplegia, Upper limb spasticity, Kyphosis, Lower limb spasticity, Babinski sign OMIM:611225
Neuronopathy, Distal Hereditary Motor, Type Viib
Facial palsy, Vocal cord paralysis, Abnormal lower motor neuron morphology OMIM:607641
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Hereditary Neuropathy With Liability To Pressure Palsies
Scoliosis, Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis, Optic atrophy, Optic disc pallor OMIM:617087
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Neuropathy, Hereditary Motor And Sensory, Russe Type
Scoliosis, Decreased motor nerve conduction velocity, Paralysis OMIM:605285
Congenital Myasthenic Syndromes With Glycosylation Defect
Scoliosis, Lumbar hyperlordosis, Fatigable weakness, Abnormal peripheral nervous system synaptic ... ORPHA:353327
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Juvenile Primary Lateral Sclerosis
Spastic tetraparesis, Abnormal pyramidal sign, Abnormal upper motor neuron morphology, Spastic ga... ORPHA:247604
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Abnormal lower motor neuron mo... ORPHA:95434
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degeneration of anterior h... OMIM:602433
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Myasthenic Syndrome, Congenital, 5
Scoliosis, Fatigable weakness, Prolonged miniature endplate currents, Hyperlordosis OMIM:603034
Amyotrophic Lateral Sclerosis 2, Juvenile
Upper limb spasticity, Spastic tetraparesis, Abnormal lower motor neuron morphology, Amyotrophic ... OMIM:205100
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:614373
Parastremmatic Dwarfism
Scoliosis, Kyphosis, Short neck OMIM:168400
Glut1 Deficiency Syndrome 1
Hemiparesis, Paralysis, Ataxia, Myoclonus, Babinski sign, Choreoathetosis, Spasticity OMIM:606777
Classic Glucose Transporter Type 1 Deficiency Syndrome
Apraxia, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Myoclonus, Extrapyramidal dyskinesia... ORPHA:71277
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal pyramidal sign, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, B... OMIM:602099
Amyotrophic Lateral Sclerosis
Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigable we... ORPHA:803
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis OMIM:608634
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Scoliosis, Decreased miniature endplate potentials, Facial palsy OMIM:608930
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Myasthenic Syndrome, Congenital, 6, Presynaptic
Fatigable weakness, Decreased miniature endplate potentials, Generalized hypotonia due to defect ... OMIM:254210
Primary Lateral Sclerosis, Juvenile
Spastic tetraparesis, Spasticity of pharyngeal muscles, Abnormal upper motor neuron morphology, S... OMIM:606353
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Tremor, Abnormal nerve conduction velocity, Kyphosis, Ataxia ORPHA:101075
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Spinal rigidity, Frequent falls, Short neck OMIM:300718
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Gait ataxia, Limb ataxia, Kyphosis, Ataxia, Dysmetria, Spasticity OMIM:610743
Hypokalemic Periodic Paralysis
Fatigable weakness of respiratory muscles, Periodic hypokalemic paresis, Paralysis, Respiratory p... ORPHA:681
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Fatigable weakness, Decreased miniature endplate potentials, Generalized hypotonia due to defect ... OMIM:605809
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Tremor, Kyphosis, Ataxia, Decreased nerve conduction velocity ORPHA:101078
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Kyp... ORPHA:40
Congenital Arthrogryposis With Anterior Horn Cell Disease
Scoliosis, Abnormal anterior horn cell morphology, Facial diplegia, Kyphosis, Paucity of anterior... OMIM:611890
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Gait ataxia, Paralysis, Progressive cerebellar ataxia, Dysmetria, Limb fasciculations OMIM:606183
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents OMIM:601462
Primary Lateral Sclerosis
Cervical spinal cord atrophy, Atrophy of the spinal cord, Weakness due to upper motor neuron dysf... ORPHA:35689
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Tremor, Abnormal nerve conduction velocity, Kyphosis, Paraparesis, Ataxia, Optic atrophy ORPHA:99014
Spastic Paralysis, Infantile-Onset Ascending
Scoliosis, Spastic paraplegia, Abnormal lower motor neuron morphology, Spastic tetraplegia, Babin... OMIM:607225
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Brachyolmia Type 1, Hobaek Type
Scoliosis, Kyphosis, Back pain, Intervertebral space narrowing, Squared-off platyspondyly, Short ... OMIM:271530
Porphyria, Acute Hepatic
Paralysis, Respiratory paralysis OMIM:612740
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Paralysis, Amyotrophic lateral sclerosis OMIM:300857
Pleoconial Myopathy With Salt Craving
Paralysis OMIM:262900
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Scoliosis, Hyperlordosis, Abnormal lower motor neuron morphology OMIM:611067
Lethal Congenital Contracture Syndrome 7
Facial diplegia, Paralysis OMIM:616286
Polyglucosan Body Neuropathy, Adult Form
Spastic paraplegia, Neurogenic bladder, Orthostatic hypotension, Tetraparesis, Abnormal upper mot... OMIM:263570
Spastic Paraplegia 46, Autosomal Recessive
Scoliosis, Spastic paraplegia, Limb dysmetria, Upper limb spasticity, Head tremor, Kyphosis, Knee... OMIM:614409
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis OMIM:613710
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Masa Syndrome
Hyperlordosis, Spastic paraplegia, Kyphosis, Lower limb spasticity, Paraplegia OMIM:303350
Variegate Porphyria
Paralysis OMIM:176200
Postsynaptic Congenital Myasthenic Syndromes
Scoliosis, Fatigable weakness of respiratory muscles, Thoracic kyphoscoliosis, Decreased miniatur... ORPHA:98913
Frontotemporal Dementia With Motor Neuron Disease
Apraxia, Abnormality of extrapyramidal motor function, Paraparesis, Tetraparesis, Abnormal lower ... ORPHA:275872
Leukoencephalopathy With Dystonia And Motor Neuropathy
Head tremor, Torticollis, Abnormal motor neuron morphology, Intention tremor OMIM:613724
Lopes-Maciel-Rodan Syndrome
Scoliosis, Tremor, Kyphosis, Hypertonia, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Spa... OMIM:617435
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Vertebral segmentation defect,... OMIM:609813
Arnold-Chiari Malformation Type I
Scoliosis, Fatigable weakness of swallowing muscles, Anteriorly placed odontoid process, Gait ata... ORPHA:268882
Spondylocostal Dysostosis 1, Autosomal Recessive
Death in infancy, Back pain, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process... OMIM:277300
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Scoliosis, Tremor, Clumsiness, Eyelid myoclonus, Abnormal lower motor neuron morphology, Myoclonu... ORPHA:2590
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Scoliosis, Postural tremor, Hand tremor, Poor fine motor coordination, Vocal cord paralysis, Babi... ORPHA:99947
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis OMIM:162500
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Kyphosis, Ataxia, Lumbar hyperlordosis, Lower limb spasticity OMIM:616756
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Apraxia, Paraparesis, Tetraparesis, Abnormal lower motor neuron morphology, Amyotrophic lateral s... OMIM:105550
Laryngeal Abductor Paralysis
Paralysis OMIM:308850
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Scoliosis, Kyphosis, Abnormal pyramidal sign, Ataxia, Abnormality of the cervical spine, Intentio... ORPHA:48431
Gm1-Gangliosidosis, Type Iii
Scoliosis, Platyspondyly, Kyphosis, Slurred speech, Anterior beaking of lumbar vertebrae OMIM:230650
Machado-Joseph Disease Type 3
Neurogenic bladder, Clumsiness, Spinocerebellar tract degeneration, Abnormality of extrapyramidal... ORPHA:276244
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Primary Angiitis Of The Central Nervous System
Paraparesis, Tetraparesis, Hemiparesis, Paralysis, Ataxia, Pseudopapilledema, Parkinsonism ORPHA:140989
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Hyperlordosis, Ovoid vertebral bodies, Kyphosis, Hypoplasia of the odontoid process ORPHA:93315
Lethal Congenital Contracture Syndrome 1
Neonatal death, Widening of cervical spinal canal, Paucity of anterior horn motor neurons OMIM:253310
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Kyphosis OMIM:600175
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Vocal cord paresis, Spinal deformities OMIM:607706
Heart Defects-Limb Shortening Syndrome
Kyphosis, Death in infancy, Abnormal form of the vertebral bodies ORPHA:1354
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Scoliosis, Decreased motor nerve conduction velocity, Vocal cord paresis OMIM:614895
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Fasciculations, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Fasciculations, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hyperlordosis, Abnormality of the vertebral column, Amyotrophic lateral sclerosis, Cranial nerve ... ORPHA:52430
Spastic Paraplegia 53, Autosomal Recessive
Spastic paraplegia, Kyphosis, Lower limb hypertonia, Clonus, Upper limb hypertonia OMIM:614898
Atypical Rett Syndrome
Scoliosis, Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Kyphosis, Hand apraxia, Tongue thru... ORPHA:3095
Bethlem Myopathy 2
Kyphosis OMIM:616471
Familial Cervical Artery Dissection
Facial palsy, Paralysis ORPHA:36382
Sandhoff Disease
Kyphosis, Ataxia ORPHA:796
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Jaberi-Elahi Syndrome
Scoliosis, Tremor, Gait ataxia, Kyphosis, Dysmetria, Optic atrophy, Choreoathetosis, Spasticity OMIM:617988
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Boucher-Neuhauser Syndrome
Gait ataxia, Ataxia, Abnormal upper motor neuron morphology, Intention tremor, Spasticity OMIM:215470
Dystonia 1, Torsion, Autosomal Dominant
Scoliosis, Hyperlordosis, Tremor, Hypertonia, Kyphosis, Blepharospasm, Torticollis OMIM:128100
Mental Retardation, Autosomal Dominant 26
Scoliosis, Kyphosis, Hypertonia, Cerebral palsy OMIM:615834
Van Den Bosch Syndrome
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors ORPHA:3417
Machado-Joseph Disease Type 1
Neurogenic bladder, Clumsiness, Spinocerebellar tract degeneration, Abnormality of extrapyramidal... ORPHA:276238
Machado-Joseph Disease Type 2
Neurogenic bladder, Clumsiness, Spinocerebellar tract degeneration, Abnormality of extrapyramidal... ORPHA:276241
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Scoliosis, Spastic paraplegia, Kyphosis, Exaggerated startle response, Optic atrophy, Optic disc ... OMIM:609541
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Ataxia, Abnormal upper motor neuron morphology, Dysmetria, Babinski sign, Optic ... OMIM:607694
Synaptic Congenital Myasthenic Syndromes
Scoliosis, Frequent falls, Abnormal synaptic transmission at the neuromuscular junction, Facial p... ORPHA:98915
Brown-Vialetto-Van Laere Syndrome 1
Scoliosis, Clumsiness, Kyphosis, Knee clonus, Ataxia, Ankle clonus, Facial palsy, Vocal cord para... OMIM:211530
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Kyphosis, Oculomotor apraxia ORPHA:3454
Immunoneurologic Disorder, X-Linked
Spastic paraplegia, Neonatal death OMIM:300076
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Kyphosis OMIM:618234
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis OMIM:300434
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Kyphosis, Spasticity ORPHA:2429
Typical Nemaline Myopathy
Scoliosis, Hyperlordosis, Fatigable weakness of respiratory muscles, Facial diplegia, Fatiguable ... ORPHA:171436
Progressive Non-Fluent Aphasia
Apraxia, Parkinsonism, Abnormal lower motor neuron morphology, Abnormality of extrapyramidal moto... ORPHA:100070
Hemifacial Atrophy, Progressive
Kyphosis, Ataxia, Horner syndrome OMIM:141300
Autosomal Recessive Spastic Paraplegia Type 53
Clonus, Kyphosis, Upper limb hypertonia ORPHA:319199
Brachyolmia Type 3
Scoliosis, Platyspondyly, Kyphosis, Spinal cord compression, Short neck OMIM:113500
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Autism Spectrum Disorder Due To Auts2 Deficiency
Scoliosis, Kyphosis, Hypertonia, Stereotypy, Repetitive compulsive behavior, Cerebral palsy, Spas... ORPHA:352490
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Kyphosis, Ataxia ORPHA:85317
X-Linked Adrenoleukodystrophy
Neurogenic bladder, Incoordination, Clumsiness, Paraparesis, Hemiparesis, Paralysis, Progressive ... ORPHA:43
Borjeson-Forssman-Lehmann Syndrome
Scoliosis, Kyphosis, Cervical spinal canal stenosis, Scheuermann-like vertebral changes OMIM:301900
Sjögren-Larsson Syndrome
Scoliosis, Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Spasticity ORPHA:816
Spinocerebellar Ataxia Type 3
Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Progressive ce... ORPHA:98757
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Tick-Borne Encephalitis
Tremor, Abnormal cranial nerve morphology, Fatigable weakness of respiratory muscles, Myelitis, I... ORPHA:297
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis ORPHA:276630
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Vertebral fusion, Facial palsy, Frequent falls OMIM:606612
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Apraxia, Abnormal upper motor neuron morphology, Myoclonus, Babinski sign, Spasticity OMIM:221770
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Scoliosis, Kyphosis, Ataxia, Spasticity OMIM:618443
Shashi-Pena Syndrome
Scoliosis, Kyphosis OMIM:617190
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Cerebral palsy, Paralysis ORPHA:230800
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis, Stereotypical hand wringing ORPHA:505652
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Fetal Akinesia Deformation Sequence 4
Kyphosis, Short neck OMIM:618393
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Scoliosis, Kyphosis OMIM:618291
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Myoclonus, Abnormal autonomic nervous system physiology, Paralysis ORPHA:83601
Poliomyelitis
Fatigable weakness of respiratory muscles, Myelitis, Abnormal motor nerve conduction velocity, Pa... ORPHA:2912
Metatropic Dysplasia
Scoliosis, Platyspondyly, Anisospondyly, Long coccyx, Kyphosis, Caudal appendage, Relatively shor... OMIM:156530
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Kyphosis, Thoracolumbar scoliosis OMIM:313420
Autosomal Recessive Ataxia, Beauce Type
Scoliosis, Clumsiness, Kyphosis, Ataxia, Ankle clonus, Lower limb spasticity, Dysmetria, Upper mo... ORPHA:88644
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis ORPHA:1875
Crisponi Syndrome
Scoliosis, Kyphosis, Hypertonia, Death in infancy ORPHA:1545
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Optic atrophy, Spastic tetraplegia OMIM:618237
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death OMIM:301021
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Gait ataxia, Abnormality of extrapyramidal motor function, Chorea, Kyphosis, Abnormal pyramidal s... ORPHA:500180
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Kyphosis, Ataxia OMIM:300861
Gm2-Gangliosidosis, Ab Variant
Chorea, Hypertonia, Abnormal pyramidal sign, Spastic tetraparesis, Paralysis, Exaggerated startle... OMIM:272750
Congenital Muscular Dystrophy, Ullrich Type
Scoliosis, Kyphosis, Torticollis, Spinal rigidity, Frequent falls, Short neck ORPHA:75840
Metatropic Dysplasia
Scoliosis, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Kyphosis, Abnor... ORPHA:2635
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Scoliosis, Kyphosis, Ataxia, Lower limb spasticity, Progressive spastic paraplegia, Spasticity ORPHA:464282
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Scoliosis, Neurogenic bladder, Increased cup-to-disc ratio, Vocal cord paralysis, Myoclonus, Opti... ORPHA:500144
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Japanese Encephalitis
Pill-rolling tremor, Decreased motor nerve conduction velocity, Tremor, Cogwheel rigidity, Abnorm... ORPHA:79139
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis ORPHA:2598
Microcephalic Primordial Dwarfism, Montreal Type
Scoliosis, Kyphosis, Hypertonia, Vertebral segmentation defect ORPHA:2617
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Kyphosis ORPHA:1548
Ck Syndrome
Scoliosis, Hyperlordosis, Kyphosis OMIM:300831
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Spinal cord compression, Short neck, Fused cervical vertebrae ORPHA:2522
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Tongue fasciculations, Degeneration of anterior horn cell... ORPHA:1145
Spinocerebellar Ataxia, X-Linked 3
Unilateral vocal cord paralysis, Incoordination, Death in infancy, Head titubation, Dysmetria, In... OMIM:301790
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Platyspondyly, Kyphosis, Ataxia, Spastic tetraplegia, Optic atrophy, Rigidity, Spasticity OMIM:618476
Weismann-Netter Syndrome
Scoliosis, Kyphosis, Horizontal sacrum OMIM:112350
Sialidosis Type 1
Scoliosis, Tremor, Abnormal form of the vertebral bodies, Kyphosis, Slurred speech, Ataxia, Myocl... ORPHA:812
Mitochondrial Dna Depletion Syndrome 11
Kyphosis, Spinal rigidity, Facial palsy, Spinal deformities OMIM:615084
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Postencephalitic Parkinsonism
Cogwheel rigidity, Camptocormia, Kyphosis, Abnormal pyramidal sign, Resting tremor, Bradykinesia,... ORPHA:97349
Hall-Riggs Mental Retardation Syndrome
Scoliosis, Platyspondyly, Kyphosis, Irregular vertebral endplates OMIM:234250
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Scoliosis, Decreased motor nerve conduction velocity, Vocal cord paresis, Lumbar hyperlordosis, O... OMIM:601152
Myopathy, Centronuclear, 2
Scoliosis, Hyperlordosis, Facial palsy, Kyphosis OMIM:255200
Snakebite Envenomation
Pseudobulbar paralysis, Paralysis, Respiratory paralysis ORPHA:449285
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Kyphosis OMIM:300676
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Scoliosis, Gait ataxia, Kyphosis, Ataxia, Abnormal sensory nerve conduction velocity, Truncal tit... ORPHA:88628
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis OMIM:617061
4Q21 Microdeletion Syndrome
Scoliosis, Tremor, Kyphosis, Stereotypy, Short neck ORPHA:238750
Mental Retardation, Autosomal Dominant 57
Scoliosis, Kyphosis OMIM:618050
Baralle-Macken Syndrome
Kyphosis, Spasticity OMIM:619255
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Kyphosis, Short neck ORPHA:178148
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Kleefstra Syndrome 2
Scoliosis, Kyphosis OMIM:617768
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Anisospondyly OMIM:224410
Pelizaeus-Merzbacher Disease
Scoliosis, Kyphosis, Ataxia, Optic atrophy, Choreoathetosis, Spasticity ORPHA:702
Renal Tubular Acidosis, Distal, 1
Periodic hypokalemic paresis, Periodic paralysis OMIM:179800
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Neonatal death, Lumbar platyspondyly, Absent ossification of cervical vertebral bodies, Absent os... OMIM:601376
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Kyphosis OMIM:130060
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Platyspondyly, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound of bone in central an... OMIM:313400
Foodborne Botulism
Diaphragmatic paralysis, Cerebral palsy, Paralysis ORPHA:228371
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Scoliosis, Kyphosis, Hemiplegia ORPHA:2181
Mental Retardation, Autosomal Dominant 23
Scoliosis, Hyperlordosis, Sacral dimple, Kyphosis OMIM:615761
Wieacker-Wolff Syndrome
Scoliosis, Hyperlordosis, Apraxia, Kyphosis, Oculomotor apraxia, Facial palsy, Short neck, Spasti... OMIM:314580
Sialidosis Type 2
Kyphosis, Tremor, Ataxia ORPHA:87876
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Decreased nerve conduction velocity OMIM:618138
Marinesco-Sjogren Syndrome
Scoliosis, Gait ataxia, Limb ataxia, Kyphosis, Ataxia, Spasticity OMIM:248800
X-Linked Dominant Chondrodysplasia Punctata
Kyphosis, Optic atrophy, Abnormal vertebral morphology ORPHA:35173
Hyperkalemic Periodic Paralysis
Hypertonia, Periodic hyperkalemic paralysis, Death in infancy, Death in early adulthood, Fascicul... ORPHA:682
Bresek Syndrome
Scoliosis, Aganglionic megacolon, Hemivertebrae, Neonatal death, Optic nerve hypoplasia ORPHA:85284
Mucolipidosis Iii Gamma
Scoliosis, Hyperlordosis, Short neck, Kyphosis OMIM:252605
Basilar Impression, Primary
Abnormal cervical myelogram, Syringomyelia, Kyphoscoliosis, Short neck, Horner syndrome OMIM:109500
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Kyphosis OMIM:259440
Glioblastoma
Paralysis ORPHA:360
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Srd5A3-Cdg
Kyphosis, Optic atrophy, Ataxia, Abnormal sacrum morphology ORPHA:324737
Hypomelanosis Of Ito
Scoliosis, Kyphosis OMIM:300337
Amyotrophic Lateral Sclerosis 21
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:606070
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Kyphosis OMIM:618484
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Mcdonough Syndrome
Scoliosis, Kyphosis ORPHA:2471
Paragangliomas 2
Vocal cord paralysis OMIM:601650
X-Linked Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Kyphosis, Back pain, Spinal rigidity, Vocal cord paralysis, Short neck ORPHA:98863
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Atlantoaxial instability, Platyspondyly, Ovoid vertebral bodies, Kyphosis, Cervical my... OMIM:183900
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Scapuloperoneal Spinal Muscular Atrophy
Scoliosis, Hyperlordosis, Kyphosis, Torticollis, Facial palsy OMIM:181405
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Kyphosis OMIM:248760
Mucopolysaccharidosis, Type Iva
Scoliosis, Hyperlordosis, Platyspondyly, Ovoid vertebral bodies, Kyphosis, Cervical myelopathy, C... OMIM:253000
Gm1-Gangliosidosis, Type I
Scoliosis, Beaking of vertebral bodies, Kyphosis, Hypertonia, Death in infancy, Short neck, Hypop... OMIM:230500
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Platyspondyly, Kyphosis, Back pain, Lumbar hyperlordosis, Spinal cord compression, Abn... ORPHA:94068
Mucopolysaccharidosis, Type Ivb
Scoliosis, Hyperlordosis, Platyspondyly, Ovoid vertebral bodies, Kyphosis, Cervical myelopathy, C... OMIM:253010
Andersen Cardiodysrhythmic Periodic Paralysis
Scoliosis, Periodic hypokalemic paresis, Periodic paralysis OMIM:170390
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Spastic Paraplegia 9A, Autosomal Dominant
Spastic paraplegia, Abnormal upper motor neuron morphology, Dysfunction of lateral corticospinal ... OMIM:601162
Developmental Malformations-Deafness-Dystonia Syndrome
Scoliosis, Kyphosis, Death in early adulthood ORPHA:79107
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Kyphosis, Vertebral fusion, Frequent falls OMIM:607155
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Widow'S Peak Syndrome
Kyphosis OMIM:314570
Bruck Syndrome 1
Scoliosis, Platyspondyly, Kyphosis, Vertebral wedging OMIM:259450
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormal form of the vertebral bodies ORPHA:93941
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Short neck, Stillbirth OMIM:236500
Wieacker-Wolff Syndrome, Female-Restricted
Scoliosis, Kyphosis, Oculomotor apraxia, Facial palsy, Short neck, Spasticity OMIM:301041
Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Kyphosis, Back pain, Spinal rigidity, Vocal cord paralysis ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Kyphosis, Back pain, Spinal rigidity, Vocal cord paralysis ORPHA:98853
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Hyperlordosis, Kyphosis, Kyphoscoliosis ORPHA:536516
Flynn-Aird Syndrome
Scoliosis, Kyphosis, Ataxia ORPHA:2047
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Kyphosis ORPHA:3085
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Autosomal Recessive Spastic Paraplegia Type 35
Dysdiadochokinesis, Spastic paraplegia, Kyphosis, Spastic tetraparesis, Lower limb hypertonia, Oc... ORPHA:171629
Smith-Mccort Dysplasia 1
Scoliosis, Platyspondyly, Atlantoaxial instability, Beaking of vertebral bodies, Kyphosis, Hypopl... OMIM:607326
Basel-Vanagaite-Smirin-Yosef Syndrome
Scoliosis, Kyphosis, Spasticity OMIM:616449
Neurodegeneration With Brain Iron Accumulation 4
Tremor, Abnormality of extrapyramidal motor function, Abnormal lower motor neuron morphology, Ata... OMIM:614298
Fetal Gaucher Disease
Neonatal death, Hypertonia, Death in infancy, Stillbirth ORPHA:85212
Pseudoachondroplasia
Scoliosis, Platyspondyly, Cervical cord compression, Beaking of vertebral bodies, Kyphosis, Lumba... OMIM:177170
Rett Syndrome
Scoliosis, Gait ataxia, Truncal ataxia, Kyphosis, Gait apraxia, Spasticity OMIM:312750
Alpha-Mannosidosis
Scoliosis, Kyphosis, Short neck ORPHA:61
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Kyphosis, Gait ataxia, Tremor OMIM:300354
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis OMIM:613239
Mend Syndrome
Kyphosis, Hypertonia OMIM:300960
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Scoliosis, Death in adolescence, Death in infancy, Neonatal death, Death in childhood, Spastic te... OMIM:619055
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Neonatal death OMIM:187601
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Abnormal form of the vertebral bodies, Kyphosis, Meningocele, Abnormality of the inter... ORPHA:2311
Ullrich Congenital Muscular Dystrophy 1
Scoliosis, Kyphosis, Torticollis, Spinal rigidity, Facial palsy OMIM:254090
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Death in childhood OMIM:619334
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Kyphosis, Spinal rigidity, Spinal deformities ORPHA:352447
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Becker Nevus Syndrome
Scoliosis, Kyphosis, Spina bifida occulta ORPHA:64755
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Lateral Meningocele Syndrome
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Kyphosis, Meningocele, Dural ect... ORPHA:2789
Diastrophic Dwarfism
Scoliosis, Kyphosis, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies ORPHA:628
Subaortic Stenosis-Short Stature Syndrome
Scoliosis, Kyphosis, Short neck ORPHA:3191
Inhalational Botulism
Paralysis ORPHA:254504
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Ruvalcaba Syndrome
Scoliosis, Kyphosis OMIM:180870
Thanatophoric Dysplasia
Platyspondyly, Kyphosis, Abnormal sacroiliac joint morphology ORPHA:2655
Frank-Ter Haar Syndrome
Scoliosis, Kyphosis, Beaking of vertebral bodies ORPHA:137834
Arthrogryposis, Distal, Type 4
Scoliosis, Kyphosis, Lumbar scoliosis, Torticollis OMIM:609128
Bruck Syndrome
Scoliosis, Platyspondyly, Kyphosis ORPHA:2771
Gm1 Gangliosidosis
Scoliosis, Platyspondyly, Hyperlordosis, Tremor, Abnormal form of the vertebral bodies, Abnormali... ORPHA:354
Fountain Syndrome
Scoliosis, Spina bifida, Abnormal form of the vertebral bodies, Kyphosis, Spina bifida occulta ORPHA:3219
Non-Functioning Paraganglioma
Tremor, Vocal cord paralysis, Cranial nerve compression ORPHA:94080
Clark-Baraitser syndrome
Scoliosis, Kyphosis OMIM:300602
Lateral Meningocele Syndrome
Scoliosis, Biconcave vertebral bodies, Kyphosis, Meningocele, Dural ectasia, Vertebral fusion, Sy... OMIM:130720
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death OMIM:619003
Stickler Syndrome, Type I
Scoliosis, Platyspondyly, Beaking of vertebral bodies, Kyphosis, Spondylolisthesis, Morbus Scheue... OMIM:108300
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death OMIM:601612
Porphyria, Acute Intermittent
Paralysis, Respiratory paralysis OMIM:176000
Rhizomelic Syndrome, Urbach Type
Kyphosis, Short neck, Abnormal form of the vertebral bodies ORPHA:3098
Uruguay Faciocardiomusculoskeletal Syndrome
Scoliosis, Kyphosis OMIM:300280
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Kyphosis, Hemivertebrae, Vertebral fusion, Hypo... ORPHA:2916
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Scoliosis, Kyphosis ORPHA:1883
Disorder Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Short neck, Spina bifida occulta ORPHA:2983
Atkin-Flaitz Syndrome
Scoliosis, Kyphosis OMIM:300431
Weismann-Netter Syndrome
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:3344
Glossopharyngeal Neuralgia
Abnormal glossopharyngeal nerve morphology, Vocal cord paralysis, Abnormality of the cervical spi... ORPHA:221098
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
3C Syndrome
Scoliosis, Kyphosis, Death in infancy, Hemivertebrae, Optic atrophy, Short neck ORPHA:7
Alexander Disease
Scoliosis, Hyperlordosis, Tremor, Chorea, Kyphosis, Abnormal pyramidal sign, Abnormal autonomic n... ORPHA:58
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal death, Death in childhood, Death in infancy OMIM:245400
Trisomy 20P
Scoliosis, Platyspondyly, Spina bifida, Incoordination, Abnormal form of the vertebral bodies, Ky... ORPHA:261318
Foxg1 Syndrome Due To 14Q12 Microdeletion
Scoliosis, Kyphosis, Stereotypy ORPHA:261144
Cockayne Syndrome Type 2
Scoliosis, Kyphosis, Ataxia, Lower limb spasticity, Limb hypertonia ORPHA:90322
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Trisomy 9P
Scoliosis, Kyphosis, Short neck, Sacral dimple ORPHA:236
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypertonia, Paralysis, Myoclonus, Ataxia OMIM:203700
Rett Syndrome, Congenital Variant
Scoliosis, Apraxia, Chorea, Kyphosis, Tongue thrusting, Stereotypy, Athetosis, Spasticity OMIM:613454
Myasthenic Syndrome, Congenital, 20, Presynaptic
Scoliosis, Kyphosis, Facial palsy OMIM:617143
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death OMIM:228940
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Kyphosis, Back pain, Spinal rigidity ORPHA:98855
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Thoracolumbar kyphosis, Cervical spinal canal stenosis, Cervical cord compression, Kyphosis, Hype... ORPHA:508533
X-Linked Intellectual Disability Due To Gria3 Mutations
Scoliosis, Kyphosis, Myoclonus, Babinski sign, Spasticity ORPHA:364028
Schaaf-Yang Syndrome
Scoliosis, Kyphosis OMIM:615547
Fucosidosis
Kyphosis, Abnormal pyramidal sign, Anterior beaking of lumbar vertebrae, Spastic tetraplegia, Spa... ORPHA:349
Desbuquois Dysplasia 1
Scoliosis, Platyspondyly, Hyperlordosis, Kyphosis, Short neck OMIM:251450
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Developmental And Epileptic Encephalopathy 89
Scoliosis, Hypertonia, Hyperkinetic movements, Tetraparesis, Neonatal death, Death in childhood, ... OMIM:619124
Thanatophoric Dysplasia, Type I
Neonatal death, Severe platyspondyly OMIM:187600
Trisomy 13
Scoliosis, Kyphosis, Optic atrophy ORPHA:3378
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Short neck OMIM:608776
Coffin-Lowry Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Kyphosis, Hypertonia, Death in early adulthood,... ORPHA:192
Thanatophoric Dysplasia Type 2
Platyspondyly, Kyphosis ORPHA:93274
Pycnodysostosis
Hyperlordosis, Kyphosis, Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:763
Spondylometaphyseal Dysplasia, Kozlowski Type
Scoliosis, Platyspondyly, Kyphosis, Short neck, Hypoplasia of the odontoid process ORPHA:93314
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Scoliosis, Thoracolumbar kyphosis, Spastic paraplegia, Limb ataxia, Hypertonia, Papilledema, Ocul... ORPHA:2072
Encephalocraniocutaneous Lipomatosis
Hemiplegia, Hypertonia, Hemiparesis, Paralysis, Tetraplegia, Rigidity, Spasticity ORPHA:2396
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Aganglionic megacolon ORPHA:261222
Larsen-Like Syndrome, Lethal Type
Neonatal death OMIM:245650
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Scoliosis, Platyspondyly, Thoracolumbar kyphosis, Kyphosis, Kyphoscoliosis, Abnormality of the cu... ORPHA:93360
Mucopolysaccharidosis Type 4
Scoliosis, Platyspondyly, Hyperlordosis, Kyphosis, Spinal canal stenosis, Short neck ORPHA:582
Urban-Rogers-Meyer Syndrome
Kyphosis, Short neck ORPHA:3409
Progressive Non-Infectious Anterior Vertebral Fusion
Scoliosis, Abnormality of the vertebral column, Kyphosis, Hemivertebrae, Spinal rigidity, Abnorma... ORPHA:2062
Thyrotoxic Periodic Paralysis
Tremor, Periodic hypokalemic paresis, Paralysis, Respiratory paralysis, Tetraplegia ORPHA:79102
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Neonatal death, Ataxia, Myoclonus, Optic disc pallor OMIM:619167
Pelger-Huet Anomaly
Kyphosis, Lower limb hypertonia OMIM:169400
Megalocornea-Intellectual Disability Syndrome
Scoliosis, Kyphosis, Stereotypy, Ataxia ORPHA:2479
Ruvalcaba Syndrome
Scoliosis, Kyphosis, Abnormality of vertebral epiphysis morphology ORPHA:3121
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Platyspondyly, Kyphosis OMIM:616482
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Short neck ORPHA:3082
Achondroplasia
Thoracolumbar kyphosis, Cervical spinal canal stenosis, Kyphosis, Lumbar hyperlordosis, Spinal ca... ORPHA:15
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Vocal cord paralysis OMIM:615490
Osteogenesis Imperfecta, Type Iii
Scoliosis, Kyphosis, Biconcave vertebral bodies OMIM:259420
Cono-Spondylar Dysplasia
Scoliosis, Kyphosis, Short neck, Poor coordination ORPHA:420794
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Abnormality of extrapyramidal motor function, Hypertonia, Kyphosis, Abnormal pyramidal sign, Exag... OMIM:617527
3M Syndrome
Scoliosis, Hyperlordosis, Increased vertebral height, Kyphosis, Short neck ORPHA:2616
Triosephosphate Isomerase Deficiency
Kyphosis, Tremor, Optic disc pallor, Spasticity OMIM:615512
Micro Syndrome
Scoliosis, Kyphosis, Optic atrophy, Spasticity ORPHA:2510
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Scoliosis, Kyphosis OMIM:615381
15Q24 Microdeletion Syndrome
Scoliosis, Kyphosis, Myelomeningocele ORPHA:94065
Faciocardiomelic Dysplasia, Lethal
Neonatal death OMIM:227270
Mucopolysaccharidosis, Type Ii
Papilledema, Kyphosis, Short neck, Cervical cord compression OMIM:309900
Van Esch-O'Driscoll Syndrome
Scoliosis, Unilateral vocal cord paralysis, Spina bifida occulta, Spasticity OMIM:301030
15Q14 Microdeletion Syndrome
Scoliosis, Kyphosis ORPHA:261190
Dyggve-Melchior-Clausen Disease
Scoliosis, Platyspondyly, Beaking of vertebral bodies, Thoracic kyphosis, Kyphosis, Lumbar hyperl... OMIM:223800
Emanuel Syndrome
Scoliosis, Kyphosis OMIM:609029
Hurler-Scheie Syndrome
Scoliosis, Kyphosis OMIM:607015
Charcot-Marie-Tooth Disease Type 4C
Gait ataxia, Abnormality of the vertebral column, Abnormal motor nerve conduction velocity, Head ... ORPHA:99949
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Scoliosis, Hyperlordosis, Kyphosis OMIM:617821
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis OMIM:603387
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death OMIM:602199
Orofaciodigital Syndrome Iii
Kyphosis, Myoclonus OMIM:258850
Gitelman Syndrome
Paralysis, Ataxia OMIM:263800
X-Linked Intellectual Disability, Cabezas Type
Scoliosis, Kyphosis, Short neck, Tremor ORPHA:85293
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Scoliosis, Tremor, Gait ataxia, Kyphosis, Stereotypy ORPHA:476126
2P15P16.1 Microdeletion Syndrome
Scoliosis, Kyphosis, Lower limb spasticity, Facial palsy, Optic nerve hypoplasia, Optic atrophy ORPHA:261349
Plaa-Associated Neurodevelopmental Disorder
Abnormality of extrapyramidal motor function, Progressive spastic quadriplegia, Kyphosis, Limb hy... ORPHA:521426
Marfanoid Habitus With Situs Inversus
Scoliosis, Kyphosis OMIM:609008
Atelosteogenesis, Type I
Coronal cleft vertebrae, Stillbirth, Thoracic platyspondyly, Neonatal death, Short neck, Fused ce... OMIM:108720
Marden-Walker Syndrome
Scoliosis, Kyphosis, Short neck OMIM:248700
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Scoliosis, Tremor, Kyphosis, Spastic diplegia, Spasticity, Sacral dimple, Ataxia, Prominent coccy... OMIM:300966
Dysostosis, Stanescu Type
Scoliosis, Hyperlordosis, Short neck, Kyphosis ORPHA:1798
Glutamine Deficiency, Congenital
Neonatal death OMIM:610015
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Kyphosis, Vertebral segmentation defect ORPHA:1005
19P13.12 Microdeletion Syndrome
Scoliosis, Kyphosis, Short neck ORPHA:254346
Acro-Renal-Mandibular Syndrome
Scoliosis, Kyphosis, Hemivertebrae, Short neck, Butterfly vertebrae ORPHA:958
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Vocal cord paralysis, Cranial nerve compression ORPHA:276621
Cowden Syndrome 5
Scoliosis, Kyphosis, Intention tremor OMIM:615108
Harrod Syndrome
Scoliosis, Kyphosis ORPHA:2115
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Kyphosis ORPHA:583
African Trypanosomiasis
Tremor, Myelitis, Papilledema, Hemiparesis, Paralysis, Myelopathy, Involuntary movements, Fascicu... ORPHA:3385
Cerebrocostomandibular Syndrome
Spina bifida, Kyphosis, Death in infancy, Meningocele, Myelomeningocele ORPHA:1393
Paragangliomas 3
Vocal cord paralysis OMIM:605373
Cole-Carpenter Syndrome 2
Platyspondyly, Kyphosis OMIM:616294
Mosaic Trisomy 20
Scoliosis, Kyphosis, Vertebral segmentation defect, Vertebral fusion, Spinal canal stenosis, Fuse... ORPHA:1724
Cole-Carpenter Syndrome
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2050
Boomerang Dysplasia
Neonatal death OMIM:112310
Thanatophoric Dysplasia Type 1
Platyspondyly, Kyphosis, Abnormal sacroiliac joint morphology ORPHA:1860
Osteogenesis Imperfecta, Type Iv
Scoliosis, Kyphosis, Biconcave flattened vertebrae OMIM:166220
Koolen-De Vries Syndrome
Scoliosis, Kyphosis, Vertebral fusion, Vertebral segmentation defect ORPHA:96169
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Scoliosis, Kyphosis, Optic atrophy OMIM:618493
Cowden Syndrome 6
Scoliosis, Kyphosis, Intention tremor OMIM:615109
Hurler Syndrome
Short neck, Biconcave vertebral bodies, Kyphosis, C1-C2 subluxation, Hypoplasia of the odontoid p... OMIM:607014
Greenberg Dysplasia
Vertebral hypoplasia, Platyspondyly, Supernumerary vertebral ossification centers, Punctate verte... OMIM:215140
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Spasticity OMIM:618810
16Q24.3 Microdeletion Syndrome
Scoliosis, Kyphosis, Optic nerve hypoplasia ORPHA:261250
Paragangliomas 1
Vocal cord paralysis OMIM:168000
Pineoblastoma
Papilledema, Paralysis ORPHA:251909
Anaplastic Thyroid Carcinoma
Vocal cord paralysis ORPHA:142
Schwartz-Jampel Syndrome
Scoliosis, Hyperlordosis, Platyspondyly, Kyphosis, Hypertonia, Death in infancy, Blepharospasm, A... ORPHA:800
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Death in infancy OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Death in infancy OMIM:618839
Genitopalatocardiac Syndrome
Scoliosis, Kyphosis ORPHA:2075
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Scoliosis, Kyphosis, Death in childhood, Stereotypy OMIM:619005
Distal Tetrasomy 15Q
Scoliosis, Kyphosis, Syringomyelia ORPHA:314588
Weaver Syndrome
Scoliosis, Kyphosis, Hypertonia, Slurred speech, Spasticity OMIM:277590
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Scoliosis, Kyphosis ORPHA:404440
Multiple Endocrine Neoplasia, Type Iib
Scoliosis, Hyperlordosis, Aganglionic megacolon, Kyphosis OMIM:162300
Campomelic Dysplasia
Scoliosis, Kyphosis, Short neck, Poorly ossified cervical vertebrae ORPHA:140
Holt-Oram Syndrome
Scoliosis, Kyphosis ORPHA:392
Spondyloenchondrodysplasia
Platyspondyly, Kyphosis, Chorea, Spasticity ORPHA:1855
Spondyloarthropathy, Susceptibility To, 1
Kyphosis, Sacroiliac arthritis, Back pain OMIM:106300
Cowden Syndrome 1
Scoliosis, Kyphosis, Intention tremor OMIM:158350
Wolf-Hirschhorn Syndrome
Scoliosis, Abnormality of the vertebral column, Abnormal vertebral morphology, Abnormal form of t... ORPHA:280
Multiple Pterygium-Malignant Hyperthermia Syndrome
Scoliosis, Kyphosis ORPHA:2215
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies OMIM:219090
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Scoliosis, Kyphosis, Short neck, Hemivertebrae OMIM:618223
Osteopetrosis, Autosomal Recessive 3
Optic nerve compression, Periodic hypokalemic paresis OMIM:259730
Distal Renal Tubular Acidosis
Paralysis ORPHA:18
Marfanoid-Progeroid-Lipodystrophy Syndrome
Dural ectasia, Kyphosis OMIM:616914
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis OMIM:610489
Alstrom Syndrome
Scoliosis, Kyphosis OMIM:203800
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Vocal cord paralysis, Cranial nerve compression ORPHA:29072
Spondyloperipheral Dysplasia
Platyspondyly, Kyphosis OMIM:271700
Koolen-De Vries Syndrome
Scoliosis, Kyphosis, Spondylolisthesis, Sacral dimple, Vertebral fusion OMIM:610443
Classic Homocystinuria
Scoliosis, Kyphosis, Optic atrophy, Hemiplegia/hemiparesis ORPHA:394
Pseudoxanthoma Elasticum, Forme Fruste
Scoliosis, Kyphosis OMIM:177850
Osteogenesis Imperfecta, Type Viii
Scoliosis, Platyspondyly, Kyphosis, Vertebral compression fracture OMIM:610915
Cockayne Syndrome
Scoliosis, Neurogenic bladder, Progressive gait ataxia, Kyphosis, Hypertonia, Intention tremor, A... ORPHA:191
Cohen Syndrome
Scoliosis, Kyphosis, Optic atrophy ORPHA:193
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Scoliosis, Hyperlordosis, Gait ataxia, Kyphosis OMIM:617011
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Alkaptonuria
Low back pain, Intervertebral disc degeneration, Vertebral fusion, Kyphosis OMIM:203500
Prader-Willi Syndrome
Scoliosis, Kyphosis, Poor fine motor coordination, Poor gross motor coordination OMIM:176270
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis OMIM:219080
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Scoliosis, Kyphosis, Stereotypy, Abnormality of the cervical spine, Optic disc pallor ORPHA:464311
Basel-Vanagaite-Smirin-Yosef Syndrome
Scoliosis, Kyphosis, Spasticity ORPHA:464738
Microphthalmia, Lenz Type
Scoliosis, Hyperlordosis, Optic disc coloboma, Kyphosis ORPHA:568
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis OMIM:239000
16P13.2 Microdeletion Syndrome
Scoliosis, Kyphosis ORPHA:500055
Cockayne Syndrome Type 3
Scoliosis, Neurogenic bladder, Kyphosis, Intention tremor, Abnormality of peripheral nerve conduc... ORPHA:90324
Koolen-De Vries Syndrome Due To A Point Mutation
Scoliosis, Hyperlordosis, Spina bifida, Cervical spinal canal stenosis, Speech apraxia, Kyphosis,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Scoliosis, Hyperlordosis, Spina bifida, Cervical spinal canal stenosis, Speech apraxia, Kyphosis,... ORPHA:363958
Congenital Disorder Of Glycosylation, Type Ia
Kyphosis, Ataxia OMIM:212065
Classical-Like Ehlers-Danlos Syndrome Type 2
Kyphosis, Thoracic scoliosis, Sacral dimple, Kyphoscoliosis ORPHA:536532
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Kyphosis, Anterior clefting of vertebral bodies, Fused cervical vertebrae OMIM:265000
Gitelman Syndrome
Paralysis ORPHA:358
Camurati-Engelmann Disease
Scoliosis, Hyperlordosis, Abnormality of the vertebral column, Kyphosis, Ataxia, Facial palsy, Op... ORPHA:1328
Dyrk1A-Related Intellectual Disability Syndrome
Scoliosis, Kyphosis, Stereotypy, Abnormality of the cervical spine, Optic disc pallor ORPHA:464306
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death OMIM:231680
Cleidocranial Dysplasia
Scoliosis, Kyphosis, Spondylolysis, Spondylolisthesis, Syringomyelia OMIM:119600
Magel2-Related Prader-Willi-Like Syndrome
Scoliosis, Kyphosis ORPHA:398069
Cockayne Syndrome A
Tremor, Kyphosis, Ataxia, Abnormal auditory evoked potentials, Decreased nerve conduction velocit... OMIM:216400
Gaucher Disease Type 1
Kyphosis, Vertebral compression fracture ORPHA:77259
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Scoliosis, Coronal cleft vertebrae, Kyphosis, Irregular vertebral endplates, Lumbar hyperlordosis... OMIM:143095
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal death, Death in infancy OMIM:265120
Robinow Syndrome, Autosomal Dominant 3
Scoliosis, Kyphosis, Short neck, Sacral dimple OMIM:616894
Hajdu-Cheney Syndrome
Scoliosis, Hypoplastic 5th lumbar vertebrae, Biconcave vertebral bodies, Kyphosis, Syringomyelia,... ORPHA:955
Familial Osteodysplasia, Anderson Type
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2769
Cockayne Syndrome B
Tremor, Kyphosis, Ataxia, Abnormal auditory evoked potentials, Decreased nerve conduction velocit... OMIM:133540
Osteogenesis Imperfecta
Scoliosis, Abnormal form of the vertebral bodies, Biconcave vertebral bodies, Kyphosis, Tetrapare... ORPHA:666
Raine Syndrome
Neonatal death, Short neck OMIM:259775
Schinzel-Giedion Syndrome
Scoliosis, Sacrococcygeal teratoma, Hypertonia, Aganglionic megacolon, Vocal cord paralysis, Kyph... ORPHA:798
X-Linked Intellectual Disability, Snyder Type
Involuntary movements, Kyphosis, Myoclonus, Kyphoscoliosis ORPHA:3063
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death OMIM:263200
Epidermolysis Bullosa, Lethal Acantholytic
Neonatal death OMIM:609638
Cdags Syndrome
Kyphosis OMIM:603116
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Mend Syndrome
Kyphosis, Abnormal auditory evoked potentials, Limb hypertonia, Sacral dimple ORPHA:401973
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Scoliosis, Kyphosis ORPHA:1969
Ramon Syndrome
Scoliosis, Kyphosis, Optic disc pallor OMIM:266270
2Q31.1 Microdeletion Syndrome
Scoliosis, Optic disc coloboma, Kyphosis, Short neck, Vertebral segmentation defect ORPHA:251014
Monosomy 9Q22.3
Kyphosis, Short neck, Abnormality of the vertebral column ORPHA:77301
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Scoliosis, Tremor, Speech apraxia, Kyphosis, Ataxia, Kyphoscoliosis OMIM:300967
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Scoliosis, Kyphosis, Short neck, Hypertonia OMIM:619194
Zttk Syndrome
Scoliosis, Kyphosis, Hemivertebrae, Optic atrophy, Spasticity OMIM:617140
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Kyphosis, Gait ataxia, Kyphoscoliosis ORPHA:457359
Tyrosinemia, Type I
Periodic paralysis OMIM:276700
Smith-Lemli-Opitz Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Kyphosis, Hypertonia, Aganglionic megacolon, Op... ORPHA:818
Cardiofacioneurodevelopmental Syndrome
Kyphosis OMIM:619123
Autosomal Recessive Robinow Syndrome
Scoliosis, Kyphosis, Death in infancy, Sacral dimple, Short neck, Vertebral segmentation defect ORPHA:1507
Aspartylglucosaminuria
Scoliosis, Platyspondyly, Beaking of vertebral bodies, Kyphosis, Spondylolysis, Spondylolisthesis... OMIM:208400
Marfan Syndrome
Scoliosis, Kyphosis, Spondylolisthesis, Meningocele, Dural ectasia ORPHA:558
Non-Specific Syndromic Intellectual Disability
Scoliosis, Kyphosis, Papilledema, Speech apraxia ORPHA:528084
Frank-Ter Haar Syndrome
Prominent coccyx, Kyphosis, Anterior concavity of thoracic vertebrae OMIM:249420
Poland Syndrome
Scoliosis, Kyphosis, Hemivertebrae, Spina bifida occulta, Short neck, Vertebral segmentation defect ORPHA:2911
Shprintzen Omphalocele Syndrome
Scoliosis, Kyphosis, Lumbar hyperlordosis OMIM:182210
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Kyphosis, Progressive congenital scoliosis OMIM:225400
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Scoliosis, Kyphosis, Hypertonia, Sacral dimple, Ataxia, Stereotypical hand wringing ORPHA:268261
Pallister-Hall Syndrome
Neonatal death, Hemivertebrae OMIM:146510
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Scoliosis, Posterior scalloping of vertebral bodies, Abnormal form of the vertebral bodies, Kypho... ORPHA:3042
Oculocerebrorenal Syndrome Of Lowe
Scoliosis, Platyspondyly, Kyphosis, Death in infancy, Stereotypy, Clonus ORPHA:534
Tsh-Secreting Pituitary Adenoma
Tremor, Periodic hypokalemic paresis ORPHA:91347
Renal Dysplasia-Limb Defects Syndrome
Neonatal death, Short neck OMIM:266910
Marden-Walker Syndrome
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2461
Occipital Horn Syndrome
Platyspondyly, Kyphosis, Orthostatic hypotension OMIM:304150
Surfactant Metabolism Dysfunction, Pulmonary, 3