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