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

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

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
Facial palsy, Scoliosis, Decreased miniature endplate potentials OMIM:608930
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents OMIM:601462
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Fatigable weakness of neck muscles, Fatigable weakness of respiratory mu... 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, Spastic gait, Spastic dysarthria, Babinski sign, Abnormal upper motor neuro... OMIM:611637
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Paralysis, Parkinsonism OMIM:105500
Myasthenic Syndrome, Congenital, 13
Fatigable weakness, Scoliosis OMIM:614750
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Upper limb spasticity, Lower limb spasticity, Spastic paraplegia, Scoliosis, Babinski sign OMIM:611225
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Neuronopathy, Distal Hereditary Motor, Type Viib
Facial palsy, Abnormal lower motor neuron morphology, Vocal cord paralysis OMIM:607641
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Congenital Myasthenic Syndromes With Glycosylation Defect
Frequent falls, Favorable response of weakness to acetylcholine esterase inhibitors, Fatigable we... ORPHA:353327
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Scoliosis, Vocal cord paralysis ORPHA:640
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Optic disc pallor, Kyphosis, Optic atrophy OMIM:617087
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Scoliosis, Paralysis OMIM:605285
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Juvenile Primary Lateral Sclerosis
Abnormal pyramidal sign, Spastic tetraparesis, Spastic gait, Spastic dysarthria, Spasticity, Abno... ORPHA:247604
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal pyramidal sign, Abnormal lower motor neuron morphology, Fasciculations, Gait ataxia, Pro... ORPHA:95434
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Prolonged miniature endplate currents, Decreased miniature endplate potentials OMIM:616321
Myasthenic Syndrome, Congenital, 5
Prolonged miniature endplate currents, Scoliosis, Hyperlordosis, Fatigable weakness OMIM:603034
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Spastic tetraparesis, Spastic gait, Upper limb spasticity... OMIM:205100
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Spasticity, Amyot... OMIM:614373
Glut1 Deficiency Syndrome 1
Paralysis, Choreoathetosis, Ataxia, Spasticity, Hemiparesis, Babinski sign, Myoclonus OMIM:606777
Parastremmatic Dwarfism
Short neck, Kyphosis, Scoliosis OMIM:168400
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Extrapyramidal dyskinesia, Choreoathetosis, Apraxia, Ataxia, Spasticity, Hemiparesis, ... ORPHA:71277
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Scoliosis, Decreased miniature endplate potentials OMIM:608930
Myasthenic Syndrome, Congenital, 6, Presynaptic
Fatigable weakness, Decreased miniature endplate potentials, Generalized hypotonia due to defect ... OMIM:254210
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Paralysis, Fatigable weakness of bulbar muscles, Fatigable weakness of resp... ORPHA:803
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal pyramidal sign, Abnormal lower motor neuron morphology, Fasciculations, Spasticity, Babi... OMIM:602099
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis OMIM:608634
Primary Lateral Sclerosis, Juvenile
Spastic tetraparesis, Spastic gait, Spastic dysarthria, Spasticity of pharyngeal muscles, Babinsk... OMIM:606353
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Abnormal nerve conduction velocity, Ataxia, Scoliosis, Tremor ORPHA:101075
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Frequent falls, Kyphosis, Short neck, Hyperlordosis, Scoliosis, Spinal rigidity OMIM:300718
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Fatigable weakness, Decreased miniature endplate potentials, Generalized hypotonia due to defect ... OMIM:605809
Spinocerebellar Ataxia, Autosomal Recessive 8
Dysmetria, Kyphosis, Ataxia, Gait ataxia, Scoliosis, Spasticity, Limb ataxia OMIM:610743
Hypokalemic Periodic Paralysis
Fatigable weakness of respiratory muscles, Periodic hypokalemic paresis, Respiratory paralysis, P... ORPHA:681
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents OMIM:601462
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Kyphosis, Abnormal form of the vertebral bodies, Vertebral wedging, Beaki... ORPHA:40
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Dysmetria, Paralysis, Limb fasciculations, Gait ataxia, Progressive cerebellar ataxia OMIM:606183
Congenital Arthrogryposis With Anterior Horn Cell Disease
Short neck, Kyphosis, Abnormal anterior horn cell morphology, Paucity of anterior horn motor neur... OMIM:611890
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Ataxia, Decreased nerve conduction velocity, Scoliosis, Tremor ORPHA:101078
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Primary Lateral Sclerosis
Atrophy of the spinal cord, Spastic gait, Cervical spinal cord atrophy, Spastic dysarthria, Weakn... ORPHA:35689
Idiopathic Camptocormia
Fatigable weakness of skeletal muscles, Syringomyelia, Parkinsonism, Abnormal synaptic transmissi... ORPHA:1320
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Spastic tetraplegia, Spastic paraplegia, Scoliosis, Tetra... OMIM:607225
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Abnormal nerve conduction velocity, Ataxia, Paraparesis, Scoliosis, Optic atrophy, Tremor ORPHA:99014
Brachyolmia Type 1, Hobaek Type
Kyphosis, Short neck, Intervertebral space narrowing, Back pain, Scoliosis, Squared-off platyspon... OMIM:271530
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Pleoconial Myopathy With Salt Craving
Paralysis OMIM:262900
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Athetosis, Paralysis OMIM:300857
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Abnormal lower motor neuron morphology, Hyperlordosis, Scoliosis OMIM:611067
Lethal Congenital Contracture Syndrome 7
Paralysis, Facial diplegia OMIM:616286
Polyglucosan Body Neuropathy, Adult Form
Tetraparesis, Orthostatic hypotension, Spastic paraplegia, Neurogenic bladder, Abnormal upper mot... OMIM:263570
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Spastic Paraplegia 46, Autosomal Recessive
Spastic gait, Kyphosis, Upper limb spasticity, Head tremor, Upper limb dysmetria, Spastic paraple... OMIM:614409
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Fatigable weakness of neck muscles, Fatigable weakness of respiratory mu... ORPHA:98913
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis OMIM:613710
Variegate Porphyria
Paralysis OMIM:176200
Masa Syndrome
Kyphosis, Lower limb spasticity, Hyperlordosis, Spastic paraplegia, Paraplegia OMIM:303350
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Lopes-Maciel-Rodan Syndrome
Abnormal pyramidal sign, Hypertonia, Kyphosis, Bradykinesia, Tremor, Scoliosis, Spasticity, Ankle... OMIM:617435
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
Tetraparesis, Abnormal lower motor neuron morphology, Parkinsonism, Apraxia, Fasciculations, Weak... ORPHA:275872
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Abnormal lower motor neuron morphology, Frequent falls, Scoliosis, Limb myoclon... ORPHA:2590
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Frequent falls, Hand tremor, Vocal cord paralysis, Scoliosis, Postural tremor, Abnormality of the... ORPHA:99947
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, Lower limb spasticity, Ataxia, Lumbar hyperlordosis, Scoliosis OMIM:616756
Laryngeal Abductor Paralysis
Paralysis OMIM:308850
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Scoli... OMIM:609813
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Block vertebrae, Short neck, Back pain, Vertebral fusion, Abnormal... OMIM:277300
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Tetraparesis, Abnormal lower motor neuron morphology, Parkinsonism, Extrapyramidal dyskinesia, Ap... OMIM:105550
Arnold-Chiari Malformation Type I
Cervical C2/C3 vertebral fusion, Syringomyelia, Vocal cord paralysis, Abnormality of the twelfth ... ORPHA:268882
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Degeneration of anterior horn... OMIM:602433
Gm1-Gangliosidosis, Type Iii
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Slurred speech OMIM:230650
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormal pyramidal sign, Dysmetria, Kyphosis, Abnormality of the cervical spine, Intention tremor... ORPHA:48431
Primary Angiitis Of The Central Nervous System
Tetraparesis, Parkinsonism, Paralysis, Ataxia, Paraparesis, Hemiparesis, Pseudopapilledema ORPHA:140989
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Tetraparesis, Abnormal lower motor neuron morphology, Fasciculations, Lower limb spasticity, Spas... OMIM:613954
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Spinocerebellar tract degeneration, Abnormal pyramidal si... ORPHA:276244
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Widening of cervical spinal canal, Neonatal death OMIM:253310
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
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
Vocal cord paresis, Decreased motor nerve conduction velocity, Spinal deformities OMIM:607706
Heart Defects-Limb Shortening Syndrome
Death in infancy, Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Scoliosis, Decreased motor nerve conduction velocity OMIM:614895
Secondary Syringomyelia
Syringomyelia, Hyperintensity of MRI T2 signal of the spinal cord, Back pain, Progressive cerebel... ORPHA:99857
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
Van Den Bosch Syndrome
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors ORPHA:3417
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Fasciculations, Hyperlordosis, Upper motor neuron dysfunctio... ORPHA:52430
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Spastic paraplegia, Scoliosis, Optic disc pallor, Exaggerated startle response, Babinsk... OMIM:609541
Sandhoff Disease
Kyphosis, Ataxia ORPHA:796
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Spastic paraplegia, Lower limb hypertonia, Clonus, Upper limb hypertonia OMIM:614898
Boucher-Neuhauser Syndrome
Intention tremor, Ataxia, Gait ataxia, Spasticity, Abnormal upper motor neuron morphology OMIM:215470
Atypical Rett Syndrome
Kyphosis, Pill-rolling tremor, Apraxia, Stereotypical hand wringing, Involuntary movements, Gait ... ORPHA:3095
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Synaptic Congenital Myasthenic Syndromes
Frequent falls, Unfavorable response of muscle weakness to acetylcholine esterase inhibitors, Abn... ORPHA:98915
Familial Cervical Artery Dissection
Facial palsy, Paralysis ORPHA:36382
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dysmetria, Ataxia, Spasticity, Babinski sign, Postural tremor, Abnormal upper motor neuron morpho... OMIM:607694
Bethlem Myopathy 2
Scoliosis, Kyphosis OMIM:616471
Winchester Syndrome
Kyphosis OMIM:277950
Jaberi-Elahi Syndrome
Dysmetria, Kyphosis, Choreoathetosis, Gait ataxia, Scoliosis, Spasticity, Optic atrophy, Tremor OMIM:617988
Immunoneurologic Disorder, X-Linked
Neonatal death, Spastic paraplegia OMIM:300076
Brown-Vialetto-Van Laere Syndrome 1
Kyphosis, Vocal cord paralysis, Ataxia, Cranial nerve motor loss, Knee clonus, Scoliosis, Tongue ... OMIM:211530
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis OMIM:300434
Machado-Joseph Disease Type 1
Abnormal pyramidal sign, Spinocerebellar tract degeneration, Facial-lingual fasciculations, Vocal... ORPHA:276238
Machado-Joseph Disease Type 2
Abnormal pyramidal sign, Spinocerebellar tract degeneration, Facial-lingual fasciculations, Vocal... ORPHA:276241
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Kyphosis OMIM:618234
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Blepharospasm, Hyperlordosis, Tremor, Scoliosis, Torticollis, Hypertonia OMIM:128100
Typical Nemaline Myopathy
Short neck, Kyphosis, Fatigable weakness of distal limb muscles, Fatiguable weakness of proximal ... ORPHA:171436
Intellectual Disability-Developmental Delay-Contractures Syndrome
Oculomotor apraxia, Scoliosis, Kyphosis ORPHA:3454
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Spasticity, Kyphosis ORPHA:2429
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Hemifacial Atrophy, Progressive
Horner syndrome, Kyphosis, Ataxia OMIM:141300
Progressive Non-Fluent Aphasia
Apraxia, Abnormal lower motor neuron morphology, Abnormality of extrapyramidal motor function, Pa... ORPHA:100070
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Clonus, Upper limb hypertonia ORPHA:319199
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Kyphosis, Ataxia ORPHA:85317
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Borjeson-Forssman-Lehmann Syndrome
Scheuermann-like vertebral changes, Scoliosis, Kyphosis, Cervical spinal canal stenosis OMIM:301900
Brachyolmia Type 3
Kyphosis, Short neck, Spinal cord compression, Platyspondyly, Scoliosis OMIM:113500
Sjögren-Larsson Syndrome
Abnormal pyramidal sign, Kyphosis, Scoliosis, Spasticity, Spastic diplegia ORPHA:816
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Hemiparesis, Progressive spastic paraparesis, Neurogenic ... ORPHA:43
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
Autism Spectrum Disorder Due To Auts2 Deficiency
Repetitive compulsive behavior, Kyphosis, Motor stereotypy, Cerebral palsy, Scoliosis, Spasticity... ORPHA:352490
Spinocerebellar Ataxia Type 3
Abnormal pyramidal sign, Vocal cord paralysis, Progressive cerebellar ataxia, Clumsiness, Abnorma... ORPHA:98757
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
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
Frequent falls, Kyphosis, Hyperlordosis, Scoliosis, Vertebral fusion, Facial palsy OMIM:606612
Tick-Borne Encephalitis
Incoordination, Paralysis, Abnormal cranial nerve morphology, Abnormal glossopharyngeal nerve mor... ORPHA:297
Cdkl5-Deficiency Disorder
Stereotypical hand wringing, Scoliosis, Kyphosis ORPHA:505652
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Apraxia, Spasticity, Babinski sign, Abnormal upper motor neuron morphology, Myoclonus OMIM:221770
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Scoliosis, Spasticity, Kyphosis, Ataxia OMIM:618443
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:230800
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Scoliosis, Kyphosis OMIM:618291
Fetal Akinesia Deformation Sequence 4
Kyphosis, Short neck OMIM:618393
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Shashi-Pena Syndrome
Scoliosis, Kyphosis OMIM:617190
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Poliomyelitis
Paralysis, Abnormal motor nerve conduction velocity, Fasciculations, Fatigable weakness of respir... ORPHA:2912
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis, Abnormal autonomic nervous system physiology, Myoclonus ORPHA:83601
Spondylometaphyseal Dysplasia, X-Linked
Thoracolumbar scoliosis, Kyphosis, Platyspondyly OMIM:313420
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Kyphosis, Ataxia OMIM:300861
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death OMIM:301021
Gm2-Gangliosidosis, Ab Variant
Abnormal pyramidal sign, Spastic tetraparesis, Paralysis, Chorea, Exaggerated startle response, H... OMIM:272750
Autosomal Recessive Ataxia, Beauce Type
Dysmetria, Kyphosis, Fasciculations, Lower limb spasticity, Ataxia, Upper motor neuron dysfunctio... ORPHA:88644
Crisponi Syndrome
Death in infancy, Scoliosis, Kyphosis, Hypertonia ORPHA:1545
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis ORPHA:1875
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Optic atrophy, Spastic tetraplegia OMIM:618237
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Abnormal pyramidal sign, Kyphosis, Limb hypertonia, Gait ataxia, Spasticity, Chorea, Abnormality ... ORPHA:500180
Congenital Muscular Dystrophy, Ullrich Type
Frequent falls, Kyphosis, Short neck, Scoliosis, Spinal rigidity, Torticollis ORPHA:75840
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Progressive spastic paraplegia, Kyphosis, Lower limb spasticity, Ataxia, Scoliosis, Spasticity ORPHA:464282
Intellectual Developmental Disorder, Autosomal Dominant 26
Scoliosis, Kyphosis, Cerebral palsy, Hypertonia OMIM:615834
Japanese Encephalitis
Hypertonia, Paralysis, Opisthotonus, Choreoathetosis, Hyperintensity of MRI T2 signal of the spin... ORPHA:79139
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Vocal cord paralysis, Scoliosis, Spasticity, Neurogenic bladder, Increased cup-to-disc ratio, Opt... ORPHA:500144
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis ORPHA:2598
Metatropic Dysplasia
Kyphosis, Abnormal form of the vertebral bodies, Hypoplastic cervical vertebrae, Scoliosis, Abnor... ORPHA:2635
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Rigidity, Spasticity, Ataxia OMIM:610127
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Kyphosis ORPHA:1548
Microcephalic Primordial Dwarfism, Montreal Type
Vertebral segmentation defect, Scoliosis, Kyphosis, Hypertonia ORPHA:2617
Ck Syndrome
Scoliosis, Hyperlordosis, Kyphosis OMIM:300831
Mitochondrial Dna Depletion Syndrome 11
Facial palsy, Spinal deformities, Kyphosis, Spinal rigidity OMIM:615084
Spinocerebellar Ataxia, X-Linked 3
Incoordination, Dysmetria, Intention tremor, Unilateral vocal cord paralysis, Optic disc pallor, ... OMIM:301790
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Kyphoscoliosis, Tongue fasciculations, Degeneration of an... ORPHA:1145
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Metatropic Dysplasia
Kyphosis, Caudal appendage, Hypoplasia of the odontoid process, Platyspondyly, Anisospondyly, Sco... OMIM:156530
Weismann-Netter Syndrome
Scoliosis, Kyphosis, Horizontal sacrum OMIM:112350
Myopathy, Centronuclear, 2
Facial palsy, Scoliosis, Hyperlordosis, Kyphosis OMIM:255200
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Short neck, Spinal cord compression, Hyperlordosis, Fused cervical vertebrae ORPHA:2522
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Abnormal sensory nerve conduction velocity, Ataxia, Gait ataxia, Scoliosis, Abnormality... ORPHA:88628
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, Scoliosis, Kyphosis, Platyspondyly OMIM:234250
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Kyphosis, Spastic tetraplegia, Ataxia, Platyspondyly, Rigidity, Spasticity, Optic atrophy OMIM:618476
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Snakebite Envenomation
Respiratory paralysis, Paralysis, Pseudobulbar paralysis ORPHA:449285
Sialidosis Type 1
Kyphosis, Abnormal form of the vertebral bodies, Ataxia, Decreased nerve conduction velocity, Sco... ORPHA:812
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Vocal cord paresis, Lumbar hyperlordosis, Scoliosis, Optic disc pallor, Decreased motor nerve con... OMIM:601152
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death OMIM:612138
Postencephalitic Parkinsonism
Abnormal pyramidal sign, Kyphosis, Resting tremor, Involuntary movements, Camptocormia, Bradykine... ORPHA:97349
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death OMIM:619602
Baralle-Macken Syndrome
Spasticity, Kyphosis OMIM:619255
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Vocal cord paresis, Polyminimyoclonus, Fasciculations, Scoliosis, Kyphoscoliosis, Tremor OMIM:619574
Kleefstra Syndrome 2
Scoliosis, Kyphosis OMIM:617768
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Intellectual Developmental Disorder, Autosomal Dominant 57
Scoliosis, Kyphosis OMIM:618050
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Scoliosis, Kyphosis, Hemiplegia ORPHA:2181
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Anisospondyly OMIM:224410
Intellectual Developmental Disorder, Autosomal Dominant 23
Scoliosis, Hyperlordosis, Kyphosis, Sacral dimple OMIM:615761
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Kyphosis OMIM:130060
Mucolipidosis Iii Gamma
Hyperlordosis, Scoliosis, Kyphosis, Short neck OMIM:252605
Foodborne Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:228371
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Neonatal death, Absent ossification of cervical vertebral bodies, Lumbar platyspondyly, Absent os... OMIM:601376
4Q21 Microdeletion Syndrome
Kyphosis, Short neck, Motor stereotypy, Scoliosis, Tremor ORPHA:238750
Sialidosis Type 2
Kyphosis, Ataxia, Tremor ORPHA:87876
Pelizaeus-Merzbacher Disease
Kyphosis, Choreoathetosis, Ataxia, Scoliosis, Spasticity, Optic atrophy ORPHA:702
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Kyphosis, Short neck ORPHA:178148
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Kyphosis, Short neck, Platyspondyly, Lumbar hyperlordosis, Scoliosis, Hump-shaped mound of bone i... OMIM:313400
Wieacker-Wolff Syndrome
Kyphosis, Short neck, Apraxia, Facial palsy, Hyperlordosis, Scoliosis, Spasticity, Oculomotor apr... OMIM:314580
Marinesco-Sjogren Syndrome
Kyphosis, Ataxia, Gait ataxia, Scoliosis, Spasticity, Limb ataxia OMIM:248800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Decreased nerve conduction velocity OMIM:618138
Bresek Syndrome
Optic nerve hypoplasia, Aganglionic megacolon, Scoliosis, Neonatal death, Hemivertebrae ORPHA:85284
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death, Limb hypertonia OMIM:615918
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Fasciculations, Cerebral palsy, Death in early adulthood, Death ... ORPHA:682
Srd5A3-Cdg
Abnormal sacrum morphology, Kyphosis, Ataxia, Optic atrophy ORPHA:324737
Glioblastoma
Paralysis ORPHA:360
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Kyphosis OMIM:618484
Hypomelanosis Of Ito
Scoliosis, Kyphosis OMIM:300337
Osteogenesis Imperfecta, Type Ix
Scoliosis, Kyphosis, Platyspondyly OMIM:259440
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Hyperlordosis, Scoliosis, Torticollis, Facial palsy OMIM:181405
Mcdonough Syndrome
Scoliosis, Kyphosis ORPHA:2471
Paragangliomas 2
Vocal cord paralysis OMIM:601650
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Kyphosis OMIM:248760
Spastic Paraplegia 9A, Autosomal Dominant
Lower limb spasticity, Spastic paraplegia, Dysfunction of lateral corticospinal tracts, Babinski ... OMIM:601162
X-Linked Emery-Dreifuss Muscular Dystrophy
Kyphosis, Short neck, Vocal cord paralysis, Hyperlordosis, Back pain, Scoliosis, Spinal rigidity ORPHA:98863
Gm1-Gangliosidosis, Type I
Kyphosis, Short neck, Hypoplastic vertebral bodies, Beaking of vertebral bodies, Scoliosis, Death... OMIM:230500
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:606070
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Spondyloepiphyseal Dysplasia Congenita
Short neck, Kyphosis, Spinal cord compression, Platyspondyly, Back pain, Lumbar hyperlordosis, Sc... ORPHA:94068
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Frequent falls, Kyphosis, Hyperlordosis, Scoliosis, Vertebral fusion OMIM:607155
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Kyphosis, Cervical subluxation, Hypoplasia of the odontoid process, Hyper... OMIM:253000
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormal form of the vertebral bodies ORPHA:93941
Mucopolysaccharidosis, Type Ivb
Ovoid vertebral bodies, Kyphosis, Cervical subluxation, Hypoplasia of the odontoid process, Hyper... OMIM:253010
Developmental Malformations-Deafness-Dystonia Syndrome
Scoliosis, Kyphosis, Death in early adulthood ORPHA:79107
Flynn-Aird Syndrome
Scoliosis, Kyphosis, Ataxia ORPHA:2047
Widow'S Peak Syndrome
Kyphosis OMIM:314570
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormality of the vertebral column, Coronal cleft vertebrae, Thoracic kyphosis, Kyphosis, Cervic... ORPHA:93314
Spondyloepiphyseal Dysplasia Congenita
Atlantoaxial instability, Short neck, Ovoid vertebral bodies, Kyphosis, Hypoplasia of the odontoi... OMIM:183900
Bruck Syndrome 1
Vertebral wedging, Scoliosis, Kyphosis, Platyspondyly OMIM:259450
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Scoliosis, Hyperlordosis, Kyphosis ORPHA:536516
Wieacker-Wolff Syndrome, Female-Restricted
Kyphosis, Short neck, Facial palsy, Scoliosis, Spasticity, Oculomotor apraxia OMIM:301041
Emery-Dreifuss Muscular Dystrophy
Kyphosis, Vocal cord paralysis, Hyperlordosis, Back pain, Scoliosis, Spinal rigidity ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Kyphosis, Vocal cord paralysis, Hyperlordosis, Back pain, Scoliosis, Spinal rigidity ORPHA:98853
Autosomal Recessive Spondylocostal Dysostosis
Short neck, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta, Ver... ORPHA:2311
Basel-Vanagaite-Smirin-Yosef Syndrome
Scoliosis, Spasticity, Kyphosis OMIM:616449
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Parkinsonism, Ataxia, Spasticity, Babinski sign, Abnormal... OMIM:614298
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Kyphosis ORPHA:3085
Rett Syndrome
Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Spasticity, Truncal ataxia OMIM:312750
Fetal Gaucher Disease
Neonatal death, Death in infancy, Stillbirth, Hypertonia ORPHA:85212
Autosomal Recessive Spastic Paraplegia Type 35
Spastic tetraparesis, Dysmetria, Kyphosis, Frequent falls, Spastic paraplegia, Lower limb spastic... ORPHA:171629
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal deformities, Kyphosis, Spinal rigidity ORPHA:352447
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Short neck, Stillbirth OMIM:236500
Smith-Mccort Dysplasia 1
Atlantoaxial instability, Kyphosis, Hypoplasia of the odontoid process, Beaking of vertebral bodi... OMIM:607326
Alpha-Mannosidosis
Scoliosis, Kyphosis, Short neck ORPHA:61
Pseudoachondroplasia
Kyphosis, Hypoplasia of the odontoid process, Beaking of vertebral bodies, Platyspondyly, Lumbar ... OMIM:177170
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Gait ataxia, Kyphosis, Tremor OMIM:300354
Andersen Cardiodysrhythmic Periodic Paralysis
Scoliosis, Periodic hypokalemic paresis, Periodic paralysis OMIM:170390
Ullrich Congenital Muscular Dystrophy 1
Kyphosis, Scoliosis, Spinal rigidity, Torticollis, Facial palsy OMIM:254090
Mend Syndrome
Kyphosis, Hypertonia OMIM:300960
Charcot-Marie-Tooth Disease Type 4B2
Vocal cord paralysis, Decreased distal sensory nerve action potential, Scoliosis, Kyphoscoliosis,... ORPHA:99956
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis OMIM:613239
Thanatophoric Dysplasia, Type Ii
Neonatal death, Platyspondyly OMIM:187601
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:628
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Death in childhood OMIM:619334
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death OMIM:619003
Becker Nevus Syndrome
Spina bifida occulta, Scoliosis, Kyphosis ORPHA:64755
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Inhalational Botulism
Paralysis ORPHA:254504
Frank-Ter Haar Syndrome
Scoliosis, Beaking of vertebral bodies, Kyphosis ORPHA:137834
Gm1 Gangliosidosis
Kyphosis, Abnormal form of the vertebral bodies, Hyperlordosis, Ataxia, Platyspondyly, Scoliosis,... ORPHA:354
Ruvalcaba Syndrome
Scoliosis, Kyphosis OMIM:180870
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Kyphosis OMIM:300676
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Spastic tetraplegia, Death in adolescence, Death in childhood, Scoliosis, Clonus, Neonatal death,... OMIM:619055
Lateral Meningocele Syndrome
Syringomyelia, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Dural ectasia, Hyperl... ORPHA:2789
Arthrogryposis, Distal, Type 4
Torticollis, Scoliosis, Kyphosis, Lumbar scoliosis OMIM:609128
Rift Valley Fever
Paralysis, Miscarriage, Back pain, Paraparesis, Hemiparesis, Decerebrate rigidity ORPHA:319251
Subaortic Stenosis-Short Stature Syndrome
Scoliosis, Kyphosis, Short neck ORPHA:3191
Stickler Syndrome, Type I
Kyphosis, Beaking of vertebral bodies, Platyspondyly, Spondylolisthesis, Scoliosis, Morbus Scheue... OMIM:108300
Uruguay Faciocardiomusculoskeletal Syndrome
Scoliosis, Kyphosis OMIM:300280
Fountain Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Spina bifida, Scoliosis, Spina bifida occulta ORPHA:3219
Clark-Baraitser syndrome
Scoliosis, Kyphosis OMIM:300602
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death OMIM:601612
Disorder Of Sex Development-Intellectual Disability Syndrome
Spina bifida occulta, Kyphosis, Short neck ORPHA:2983
Lateral Meningocele Syndrome
Syringomyelia, Short neck, Kyphosis, Dural ectasia, Scoliosis, Vertebral fusion, Biconcave verteb... OMIM:130720
Non-Functioning Paraganglioma
Vocal cord paralysis, Cranial nerve compression, Tremor ORPHA:94080
Rhizomelic Syndrome, Urbach Type
Kyphosis, Short neck, Abnormal form of the vertebral bodies ORPHA:3098
Bruck Syndrome
Scoliosis, Kyphosis, Platyspondyly ORPHA:2771
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Paralysis, Ataxia, Myoclonus, Hypertonia OMIM:203700
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis OMIM:176000
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly ORPHA:2655
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Scoliosis, Vertebr... ORPHA:2916
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Scoliosis, Kyphosis ORPHA:1883
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Atkin-Flaitz Syndrome
Scoliosis, Kyphosis OMIM:300431
Andersen-Tawil Syndrome
Scoliosis, Periodic hypokalemic paresis, Periodic hyperkalemic paralysis, Periodic paralysis ORPHA:37553
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Alexander Disease
Abnormal pyramidal sign, Kyphosis, Short neck, Hyperlordosis, Ataxia, Abnormal autonomic nervous ... ORPHA:58
Alg1-Cdg
Scoliosis, Kyphosis ORPHA:79327
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Weismann-Netter Syndrome
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:3344
Trisomy 20P
Incoordination, Kyphosis, Short neck, Abnormal form of the vertebral bodies, Abnormal autonomic n... ORPHA:261318
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal death, Death in infancy, Death in childhood OMIM:245400
Glossopharyngeal Neuralgia
Vocal cord paralysis, Cranial nerve compression, Abnormality of the cervical spine, Abnormal glos... ORPHA:221098
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
Cockayne Syndrome Type 2
Kyphosis, Lower limb spasticity, Ataxia, Limb hypertonia, Scoliosis ORPHA:90322
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death OMIM:228940
3C Syndrome
Kyphosis, Short neck, Scoliosis, Death in infancy, Hemivertebrae, Optic atrophy ORPHA:7
Myasthenic Syndrome, Congenital, 20, Presynaptic
Facial palsy, Scoliosis, Kyphosis OMIM:617143
Foxg1 Syndrome Due To 14Q12 Microdeletion
Scoliosis, Kyphosis, Motor stereotypy ORPHA:261144
Trisomy 9P
Scoliosis, Kyphosis, Short neck, Sacral dimple ORPHA:236
X-Linked Intellectual Disability Due To Gria3 Mutations
Kyphosis, Scoliosis, Spasticity, Babinski sign, Myoclonus ORPHA:364028
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Kyphosis, Hyperlordosis, Back pain, Scoliosis, Spinal rigidity ORPHA:98855
Fucosidosis
Abnormal pyramidal sign, Kyphosis, Spastic tetraplegia, Anterior beaking of lumbar vertebrae, Spa... ORPHA:349
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Kyphosis, Sacral dimple, Abnormality of the cervical spine, Cervical spinal canal stenosis, Opist... ORPHA:508533
Schaaf-Yang Syndrome
Scoliosis, Kyphosis OMIM:615547
Desbuquois Dysplasia 1
Kyphosis, Short neck, Hyperlordosis, Platyspondyly, Scoliosis OMIM:251450
Developmental And Epileptic Encephalopathy 89
Tetraparesis, Death in childhood, Scoliosis, Spasticity, Neonatal death, Hyperkinetic movements, ... OMIM:619124
Thanatophoric Dysplasia, Type I
Neonatal death, Severe platyspondyly OMIM:187600
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Triosephosphate Isomerase Deficiency
Kyphosis, Death in adolescence, Optic disc pallor, Spasticity, Death in infancy, Tremor OMIM:615512
Trisomy 13
Scoliosis, Kyphosis, Optic atrophy ORPHA:3378
Coffin-Lowry Syndrome
Hypertonia, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Progressive spasticity, O... ORPHA:192
Mucopolysaccharidosis, Type Vii
Kyphosis, Short neck, Anterior beaking of lumbar vertebrae, Anterior beaking of lower thoracic ve... OMIM:253220
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon, Kyphosis ORPHA:261222
Larsen-Like Syndrome, Lethal Type
Neonatal death OMIM:245650
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Short neck OMIM:608776
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Kyphosis, Platyspondyly, Kyphoscoliosis, Scoliosis, Thoracolumbar kyphosis, Abnormality of the cu... ORPHA:93360
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly ORPHA:93274
Urban-Rogers-Meyer Syndrome
Kyphosis, Short neck ORPHA:3409
Mucopolysaccharidosis Type 4
Short neck, Kyphosis, Hyperlordosis, Platyspondyly, Scoliosis, Spinal canal stenosis ORPHA:582
Achondroplasia
Kyphosis, Cervical spinal canal stenosis, Lumbar hyperlordosis, Thoracolumbar kyphosis, Spinal ca... ORPHA:15
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Hemiplegia, Hemiparesis, Tetraplegia, Spasticity, Hypertonia ORPHA:2396
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Kyphosis, Platyspondyly OMIM:616482
15Q24 Microdeletion Syndrome
Scoliosis, Myelomeningocele, Kyphosis ORPHA:94065
Rett Syndrome, Congenital Variant
Kyphosis, Apraxia, Athetosis, Tongue thrusting, Scoliosis, Spasticity, Chorea OMIM:613454
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Paralysis, Spastic paraplegia, Papilledema, Scoliosis, Thoracolumbar kyphosis, Limb ataxia, Oculo... ORPHA:2072
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormality of the vertebral column, Kyphosis, Scoliosis, Spinal rigidity, Hemivertebrae, Abnorma... ORPHA:2062
Pelger-Huet Anomaly
Lower limb hypertonia, Kyphosis OMIM:169400
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Neonatal death, Optic disc pallor, Ataxia, Myoclonus OMIM:619167
Ruvalcaba Syndrome
Scoliosis, Kyphosis, Abnormality of vertebral epiphysis morphology ORPHA:3121
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Short neck ORPHA:3082
Thyrotoxic Periodic Paralysis
Periodic hypokalemic paresis, Paralysis, Respiratory paralysis, Tetraplegia, Tremor ORPHA:79102
Osteogenesis Imperfecta, Type Iii
Scoliosis, Biconcave vertebral bodies, Kyphosis OMIM:259420
Megalocornea-Intellectual Disability Syndrome
Scoliosis, Kyphosis, Ataxia, Motor stereotypy ORPHA:2479
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Vocal cord paralysis OMIM:615490
3M Syndrome
Kyphosis, Short neck, Increased vertebral height, Hyperlordosis, Scoliosis ORPHA:2616
Cono-Spondylar Dysplasia
Scoliosis, Kyphosis, Short neck, Poor coordination ORPHA:420794
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Scoliosis, Kyphosis OMIM:615381
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Abnormal pyramidal sign, Kyphosis, Rigidity, Babinski sign, Exaggerated startle response, Abnorma... OMIM:617527
Micro Syndrome
Scoliosis, Spasticity, Kyphosis, Optic atrophy ORPHA:2510
Faciocardiomelic Dysplasia, Lethal
Neonatal death OMIM:227270
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Dysmetria, Kyphosis, Intention tremor, Ataxia, Head titubation, Optic atrophy OMIM:619708
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scoliosis, Kyphosis, Tremor OMIM:617061
15Q14 Microdeletion Syndrome
Scoliosis, Kyphosis ORPHA:261190
Molybdenum Cofactor Deficiency, Complementation Group C
Neonatal death, Limb hypertonia, Hypertonia OMIM:615501
Dyggve-Melchior-Clausen Disease
Thoracic kyphosis, Short neck, Kyphosis, Hypoplasia of the odontoid process, Beaking of vertebral... OMIM:223800
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Scoliosis, Hyperlordosis, Kyphosis OMIM:617821
Mucopolysaccharidosis, Type Ii
Cervical cord compression, Kyphosis, Short neck, Papilledema OMIM:309900
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Thoracic scoliosis, Kyphosis OMIM:603387
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death OMIM:602199
Emanuel Syndrome
Scoliosis, Kyphosis OMIM:609029
Marfanoid Habitus With Situs Inversus
Scoliosis, Kyphosis OMIM:609008
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Kyphosis, Short neck, Sacral dimple, Prominent protruding coccyx, Spastic diplegia, Ataxia, Scoli... OMIM:300966
Pycnodysostosis
Kyphosis, Spondylolysis, Hyperlordosis, Spondylolisthesis, Scoliosis, Upper motor neuron dysfunction ORPHA:763
Glutamine Deficiency, Congenital
Neonatal death OMIM:610015
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Kyphosis, Motor stereotypy, Gait ataxia, Scoliosis, Tremor ORPHA:476126
Plaa-Associated Neurodevelopmental Disorder
Kyphosis, Limb hypertonia, Rigidity, Exaggerated startle response, Progressive spastic quadripleg... ORPHA:521426
African Trypanosomiasis
Paralysis, Choreoathetosis, Involuntary movements, Fasciculations, Miscarriage, Papilledema, Myel... ORPHA:3385
Gitelman Syndrome
Paralysis, Ataxia OMIM:263800
2P15P16.1 Microdeletion Syndrome
Kyphosis, Optic nerve hypoplasia, Lower limb spasticity, Scoliosis, Facial palsy, Optic atrophy ORPHA:261349
Orofaciodigital Syndrome Iii
Kyphosis, Myoclonus OMIM:258850
Marden-Walker Syndrome
Scoliosis, Kyphosis, Short neck OMIM:248700
19P13.12 Microdeletion Syndrome
Scoliosis, Kyphosis, Short neck ORPHA:254346
X-Linked Intellectual Disability, Cabezas Type
Scoliosis, Kyphosis, Short neck, Tremor ORPHA:85293
Dysostosis, Stanescu Type
Hyperlordosis, Scoliosis, Kyphosis, Short neck ORPHA:1798
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Vertebral segmentation defect, Scoliosis, Kyphosis ORPHA:1005
Cowden Syndrome 5
Scoliosis, Kyphosis, Intention tremor OMIM:615108
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Scoliosis, Kyphosis ORPHA:404440
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Kyphosis, Short neck ORPHA:583
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Death in infancy OMIM:300219
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly OMIM:616294
Acro-Renal-Mandibular Syndrome
Short neck, Kyphosis, Scoliosis, Butterfly vertebrae, Hemivertebrae ORPHA:958
Harrod Syndrome
Scoliosis, Kyphosis ORPHA:2115
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Scoliosis, Kyphosis, Optic atrophy OMIM:618493
Microphthalmia, Lenz Type
Optic disc coloboma, Scoliosis, Hyperlordosis, Kyphosis ORPHA:568
Cole-Carpenter Syndrome
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2050
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Spasticity OMIM:618810
Cowden Syndrome 6
Scoliosis, Kyphosis, Intention tremor OMIM:615109
Sporadic Pheochromocytoma/Secreting Paraganglioma
Vocal cord paralysis, Cranial nerve compression, Tremor ORPHA:276621
Mosaic Trisomy 20
Kyphosis, Scoliosis, Spinal canal stenosis, Vertebral fusion, Abnormality of the spinal cord, Fus... ORPHA:1724
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly ORPHA:1860
Koolen-De Vries Syndrome
Vertebral segmentation defect, Scoliosis, Kyphosis, Vertebral fusion ORPHA:96169
Holt-Oram Syndrome
Scoliosis, Kyphosis ORPHA:392
Anaplastic Thyroid Carcinoma
Vocal cord paralysis ORPHA:142
Boomerang Dysplasia
Neonatal death OMIM:112310
Paragangliomas 3
Vocal cord paralysis OMIM:605373
Osteogenesis Imperfecta, Type Iv
Scoliosis, Kyphosis, Biconcave flattened vertebrae OMIM:166220
Cerebrocostomandibular Syndrome
Myelomeningocele, Kyphosis, Spina bifida, Death in infancy, Meningocele ORPHA:1393
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, Short neck, Thoracic platyspondyly, Fused cervical... OMIM:108720
Distal Tetrasomy 15Q
Scoliosis, Syringomyelia, Kyphosis ORPHA:314588
Weaver Syndrome
Kyphosis, Scoliosis, Spasticity, Slurred speech, Hypertonia OMIM:277590
Hurler-Scheie Syndrome
Scoliosis, Kyphosis OMIM:607015
16Q24.3 Microdeletion Syndrome
Scoliosis, Optic nerve hypoplasia, Kyphosis ORPHA:261250
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Death in infancy OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Death in infancy OMIM:618839
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Pineoblastoma
Paralysis, Papilledema ORPHA:251909
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Optic nerve compression OMIM:259730
Schwartz-Jampel Syndrome
Abnormally straight spine, Short neck, Kyphosis, Blepharospasm, Hyperlordosis, Platyspondyly, Sco... ORPHA:800
Paragangliomas 1
Vocal cord paralysis OMIM:168000
Spondyloenchondrodysplasia
Spasticity, Kyphosis, Chorea, Platyspondyly ORPHA:1855
Genitopalatocardiac Syndrome
Scoliosis, Kyphosis ORPHA:2075
Cowden Syndrome 1
Scoliosis, Kyphosis, Intention tremor OMIM:158350
Campomelic Dysplasia
Scoliosis, Kyphosis, Short neck, Poorly ossified cervical vertebrae ORPHA:140
Wolf-Hirschhorn Syndrome
Abnormality of the vertebral column, Kyphosis, Abnormal form of the vertebral bodies, Sacral dimp... ORPHA:280
Spondyloarthropathy, Susceptibility To, 1
Kyphosis, Sacroiliac arthritis, Back pain OMIM:106300
Multiple Pterygium-Malignant Hyperthermia Syndrome
Scoliosis, Kyphosis ORPHA:2215
Hurler Syndrome
Kyphosis, Short neck, Hypoplasia of the odontoid process, C1-C2 subluxation, Biconcave vertebral ... OMIM:607014
Multiple Endocrine Neoplasia, Type Iib
Scoliosis, Hyperlordosis, Kyphosis, Aganglionic megacolon OMIM:162300
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Scoliosis, Kyphosis, Hemivertebrae OMIM:618223
Pituitary Adenoma 4, Acth-Secreting
Biconcave vertebral bodies, Kyphosis, Vertebral compression fracture OMIM:219090
Marfanoid-Progeroid-Lipodystrophy Syndrome
Dural ectasia, Kyphosis OMIM:616914
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis OMIM:610475
Alkaptonuria
Low back pain, Kyphosis, Vertebral fusion, Intervertebral disc degeneration OMIM:203500
2Q31.1 Microdeletion Syndrome
Vertebral segmentation defect, Kyphosis, Short neck, Scoliosis, Optic disc coloboma ORPHA:251014
Pseudoxanthoma Elasticum, Forme Fruste
Scoliosis, Kyphosis OMIM:177850
Camurati-Engelmann Disease
Abnormality of the vertebral column, Kyphosis, Optic nerve compression, Hyperlordosis, Ataxia, Sc... ORPHA:1328
Koolen-De Vries Syndrome
Kyphosis, Sacral dimple, Spondylolisthesis, Scoliosis, Vertebral fusion OMIM:610443
Alstrom Syndrome
Scoliosis, Kyphosis OMIM:203800
Congenital Disorder Of Glycosylation, Type Ia
Kyphosis, Ataxia OMIM:212065
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis OMIM:219080
Noonan Syndrome 14
Kyphosis, Short neck OMIM:619745
Distal Renal Tubular Acidosis
Paralysis ORPHA:18
Hereditary Pheochromocytoma-Paraganglioma
Vocal cord paralysis, Cranial nerve compression, Tremor ORPHA:29072
Classic Homocystinuria
Scoliosis, Hemiplegia/hemiparesis, Kyphosis, Optic atrophy ORPHA:394
Prader-Willi Syndrome
Poor gross motor coordination, Scoliosis, Poor fine motor coordination, Kyphosis OMIM:176270
Cockayne Syndrome
Action tremor, Kyphosis, Intention tremor, Limb hypertonia, Ataxia, Decreased nerve conduction ve... ORPHA:191
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Kyphosis, Abnormality of the cervical spine, Motor stereotypy, Scoliosis, Optic disc pallor ORPHA:464311
Basel-Vanagaite-Smirin-Yosef Syndrome
Scoliosis, Spasticity, Kyphosis ORPHA:464738
Mgat2-Cdg
Stereotypical hand wringing, Scoliosis, Kyphosis ORPHA:79329
Spondyloperipheral Dysplasia
Kyphosis, Platyspondyly OMIM:271700
Cohen Syndrome
Scoliosis, Kyphosis, Optic atrophy ORPHA:193
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Marshall-Smith Syndrome
Thoracic scoliosis, Thoracic kyphosis, Kyphosis, Hypoplasia of the odontoid process, Death in chi... OMIM:602535
16P13.2 Microdeletion Syndrome
Scoliosis, Kyphosis ORPHA:500055
Greenberg Dysplasia
Absent or minimally ossified vertebral bodies, Hypoplastic vertebral bodies, Supernumerary verteb... OMIM:215140
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Gait ataxia, Scoliosis, Hyperlordosis, Kyphosis OMIM:617011
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis OMIM:619244
Cockayne Syndrome Type 3
Kyphosis, Intention tremor, Scoliosis, Optic disc pallor, Neurogenic bladder, Abnormality of peri... ORPHA:90324
Osteogenesis Imperfecta, Type Viii
Scoliosis, Kyphosis, Vertebral compression fracture, Platyspondyly OMIM:610915
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Scoliosis, Kyphosis, Death in childhood OMIM:619005
Multiple Pterygium Syndrome, Escobar Variant
Anterior clefting of vertebral bodies, Scoliosis, Kyphosis, Fused cervical vertebrae OMIM:265000
Dyrk1A-Related Intellectual Disability Syndrome
Kyphosis, Abnormality of the cervical spine, Motor stereotypy, Scoliosis, Optic disc pallor ORPHA:464306
Koolen-De Vries Syndrome Due To A Point Mutation
Kyphosis, Sacral dimple, Cervical spinal canal stenosis, Dural ectasia, Hyperlordosis, Speech apr... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Kyphosis, Sacral dimple, Cervical spinal canal stenosis, Dural ectasia, Hyperlordosis, Speech apr... ORPHA:363958
Gaucher Disease, Perinatal Lethal
Neonatal death, Opisthotonus OMIM:608013
Classical-Like Ehlers-Danlos Syndrome Type 2
Kyphoscoliosis, Thoracic scoliosis, Kyphosis, Sacral dimple ORPHA:536532
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Repetitive compulsive behavior, Kyphosis, Spastic tetraplegia, Intention tremor, Isometric tremor... OMIM:619475
Cockayne Syndrome B
Kyphosis, Ataxia, Decreased nerve conduction velocity, Death in childhood, Abnormal auditory evok... OMIM:133540
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death OMIM:231680
Gitelman Syndrome
Paralysis ORPHA:358
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Scoliosis, Kyphosis OMIM:619557
Gaucher Disease Type 1
Kyphosis, Vertebral compression fracture ORPHA:77259
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Coronal cleft vertebrae, Kyphosis, Short neck, Intervertebral space narrowing, Narrow vertebral i... OMIM:143095
Hajdu-Cheney Syndrome
Syringomyelia, Short neck, Kyphosis, Scoliosis, Hypoplastic 5th lumbar vertebrae, Biconcave verte... ORPHA:955
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis OMIM:610489
Robinow Syndrome, Autosomal Dominant 3
Scoliosis, Kyphosis, Short neck, Sacral dimple OMIM:616894
Magel2-Related Prader-Willi-Like Syndrome
Scoliosis, Kyphosis ORPHA:398069
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal death, Death in infancy OMIM:265120
Cleidocranial Dysplasia
Syringomyelia, Kyphosis, Spondylolysis, Spondylolisthesis, Scoliosis OMIM:119600
Raine Syndrome
Neonatal death, Short neck OMIM:259775
Schinzel-Giedion Syndrome
Short neck, Vocal cord paralysis, Aganglionic megacolon, Sacrococcygeal teratoma, Scoliosis, Spas... ORPHA:798
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis OMIM:239000
X-Linked Intellectual Disability, Snyder Type
Kyphoscoliosis, Involuntary movements, Kyphosis, Myoclonus ORPHA:3063
Autosomal Recessive Robinow Syndrome
Kyphosis, Short neck, Sacral dimple, Scoliosis, Death in infancy, Vertebral segmentation defect ORPHA:1507
Osteogenesis Imperfecta
Tetraparesis, Cervical kyphosis, Syringomyelia, Kyphosis, Vertebral compression fracture, Abnorma... ORPHA:666
Epidermolysis Bullosa, Lethal Acantholytic
Neonatal death OMIM:609638
Cdags Syndrome
Kyphosis OMIM:603116
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death OMIM:263200
Cockayne Syndrome A
Kyphosis, Ataxia, Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Optic... OMIM:216400
Familial Osteodysplasia, Anderson Type
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2769
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphosis, Ataxia, Speech apraxia, Scoliosis, Kyphoscoliosis, Tremor OMIM:300967
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Scoliosis, Kyphosis OMIM:619718
Mend Syndrome
Abnormal auditory evoked potentials, Kyphosis, Sacral dimple, Limb hypertonia ORPHA:401973
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Scoliosis, Kyphosis ORPHA:1969
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Scoliosis, Kyphosis, Short neck, Hypertonia OMIM:619194
Smith-Lemli-Opitz Syndrome
Kyphosis, Short neck, Abnormal form of the vertebral bodies, Aganglionic megacolon, Scoliosis, Op... ORPHA:818