Gene Summary

Name:
cholinergic receptor nicotinic alpha 1 subunit
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 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
Facial palsy, Scoliosis, Decreased miniature endplate potentials OMIM:608930
Postsynaptic Congenital Myasthenic Syndromes
Fatigable weakness of respiratory muscles, Fatigable weakness of neck muscles, Decreased miniatur... ORPHA:98913
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents OMIM:601462
Multiple Pterygium Syndrome, Lethal Type
Abnormal cervical curvature, Vertebral fusion 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
Abnormal upper motor neuron morphology, Babinski sign, Spastic gait, Spastic tetraparesis, Spasti... OMIM:611637
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Paralysis, Parkinsonism, Amyotrophic lateral sclerosis OMIM:105500
Spastic Paraplegia 18B, Autosomal Recessive
Spastic paraplegia, Ankle clonus, Babinski sign, Lower limb spasticity, Scoliosis, Kyphosis, Uppe... OMIM:611225
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Scoliosis, Vocal cord paralysis ORPHA:640
Congenital Myasthenic Syndromes With Glycosylation Defect
Frequent falls, Lumbar hyperlordosis, Abnormal peripheral nervous system synaptic transmission, F... ORPHA:353327
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Vocal cord paralysis OMIM:607641
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Myasthenic Syndrome, Congenital, 16
Periodic paralysis, Hyperlordosis, Fatigable weakness OMIM:614198
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Fasciculations, Limb ataxia, Gait ataxia, Myoclonus, Abnormal lower motor neuron morphology, Abno... ORPHA:95434
Juvenile Primary Lateral Sclerosis
Spasticity, Abnormal upper motor neuron morphology, Abnormal pyramidal sign, Spastic gait, Spasti... ORPHA:247604
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Prolonged miniature endplate currents, Decreased miniature endplate potentials OMIM:616321
Primary Lateral Sclerosis, Juvenile
Pseudobulbar paralysis, Abnormal upper motor neuron morphology, Decreased compound muscle action ... OMIM:606353
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Abnormal motor nerve conduction velocity, Vocal cord paralysis, Tremor OMIM:158580
Glut1 Deficiency Syndrome 1
Spasticity, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreoathetosis OMIM:606777
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Decreased motor nerve conduction velocity, Scoliosis OMIM:605285
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis, Fatigable weakness, Prolonged miniature endplate currents OMIM:603034
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Choreoathetos... ORPHA:71277
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Athetosis, Amyotrophic lateral sclerosis OMIM:300857
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis OMIM:608634
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Vocal cord paralysis, Death in infancy, Neonatal death OMIM:616287
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Decreased ... OMIM:254210
Hypokalemic Periodic Paralysis
Respiratory paralysis, Paralysis, Fatigable weakness of respiratory muscles, Periodic hypokalemic... ORPHA:681
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Tremor, Ataxia, Scoliosis, Kyphosis ORPHA:101075
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis OMIM:168400
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Scoliosis, Decreased miniature endplate potentials OMIM:608930
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Decreased ... OMIM:605809
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Tremor, Ataxia, Scoliosis, Kyphosis ORPHA:101078
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Spasticity, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramidal mot... OMIM:610743
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Primary Lateral Sclerosis
Spasticity, Spastic gait, Progressive spastic paraparesis, Abnormal upper motor neuron morphology... ORPHA:35689
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... ORPHA:40
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Facial diplegia, Neonatal death, Short neck, Paucity of a... OMIM:611890
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Idiopathic Camptocormia
Myelitis, Amyotrophic lateral sclerosis, Fatigable weakness of skeletal muscles, Syringomyelia, P... ORPHA:1320
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Optic disc pallor, Scoliosis, Kyphosis OMIM:617087
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Frequent falls, Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity OMIM:300718
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity, Tremor, Paraparesis, Ataxia, Scoliosis, Kyphosis ORPHA:99014
Spastic Paralysis, Infantile-Onset Ascending
Spastic paraplegia, Abnormal lower motor neuron morphology, Babinski sign, Tetraplegia, Scoliosis... OMIM:607225
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Scoliosis, Hyperlordosis OMIM:611067
Amyotrophic Lateral Sclerosis
Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Babinski sign, Paralysis, Motor neuron... ORPHA:803
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol... OMIM:271530
Amyotrophic Lateral Sclerosis 5, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower motor neuron morphology... OMIM:602099
Amyotrophic Lateral Sclerosis 2, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Spasticity of facial muscles, Opisthotonus, Clonus, At... OMIM:205100
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Hand tremor, Head tremor, Limb dysmetria, Upper limb dysmetria, Ankle clonus,... OMIM:614409
Lethal Congenital Contracture Syndrome 7
Paralysis, Facial diplegia OMIM:616286
Postsynaptic Congenital Myasthenic Syndromes
Fatigable weakness of respiratory muscles, Fatigable weakness of neck muscles, Decreased miniatur... ORPHA:98913
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Frequent falls, Myoclonus, Tremor, Abnormal lower motor neuron morphology, Clumsi... ORPHA:2590
Myasthenic Syndrome, Congenital, 25, Presynaptic
Decreased compound muscle action potential amplitude, Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Hereditary Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Spastic tetraplegia, Kyphosis, Neonatal death OMIM:618237
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents OMIM:601462
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Hand tremor, Frequent falls, Postural tremor, Babinski sign, Vocal cord paralysis,... ORPHA:99947
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Lower limb spasticity, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity OMIM:617404
Masa Syndrome
Spastic paraplegia, Paraplegia, Lower limb spasticity, Hyperlordosis, Kyphosis OMIM:303350
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis OMIM:613710
Neuropathy, Hereditary, With Liability To Pressure Palsies
Froment sign, Decreased motor nerve conduction velocity, Vocal cord paralysis OMIM:162500
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis, Decreased distal sensory nerve action potential, Decreased motor nerve conduc... OMIM:607706
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Abnormality of extrapyramid... ORPHA:275872
Polyglucosan Body Neuropathy, Adult Form
Spastic paraplegia, Tetraparesis, Abnormal upper motor neuron morphology, Neurogenic bladder, Ort... OMIM:263570
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Lower limb spasticity, Ataxia, Scoliosis, Kyphosis OMIM:616756
Variegate Porphyria
Paralysis OMIM:176200
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Tetraparesis, Abnormal lower motor neuron morphology, Apraxia, Par... OMIM:105550
Fetal Akinesia Deformation Sequence 4
Short neck, Kyphosis, Prenatal death, Neonatal death OMIM:618393
Arnold-Chiari Malformation Type I
Fatigable weakness of swallowing muscles, Myelopathy, Cranial nerve compression, Abnormality of t... ORPHA:268882
Machado-Joseph Disease Type 3
Spasticity, Spinocerebellar tract degeneration, Abnormality of extrapyramidal motor function, Abn... ORPHA:276244
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Decreased compound muscle action potential amplitude, Abnormal low... OMIM:602433
Van Den Bosch Syndrome
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors ORPHA:3417
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Chorea, Intention tremor, Dysmetria, Abnormality of peripheral nerve conduction, Abnormality of t... ORPHA:48431
Primary Angiitis Of The Central Nervous System
Tetraparesis, Pseudopapilledema, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia ORPHA:140989
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Tongue fasciculations, Kyphosis, Ataxia OMIM:620007
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme... OMIM:609813
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Widening of cervical spinal canal, Neonatal death OMIM:253310
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Tetraparesis, Ankle clonus, Abnormal l... OMIM:613954
Spastic Paraplegia 53, Autosomal Recessive
Spastic paraplegia, Upper limb hypertonia, Clonus, Kyphosis, Lower limb hypertonia OMIM:614898
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Fasciculations, Babinski sign, Lower limb spasticity, Hyperlordosis, Scoliosis, Kyphosis OMIM:615290
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Spastic paraplegia, Optic atrophy, Ankle clonus, Babinski sign, Exaggerated startle response, Opt... OMIM:609541
Lopes-Maciel-Rodan Syndrome
Spasticity, Tremor, Ankle clonus, Abnormal pyramidal sign, Hypertonia, Bradykinesia, Scoliosis, K... OMIM:617435
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Death in infancy ORPHA:1354
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
Boucher-Neuhauser Syndrome
Spasticity, Abnormal upper motor neuron morphology, Gait ataxia, Ataxia, Intention tremor OMIM:215470
Stuve-Wiedemann Syndrome 2
Neonatal death, Death in adolescence, Scoliosis, Stillbirth OMIM:619751
Bethlem Myopathy 2
Scoliosis, Kyphosis OMIM:616471
Sandhoff Disease
Kyphosis, Ataxia ORPHA:796
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Decreased nerve conduction velocity, Poor gross motor coordination, Motor con... ORPHA:99948
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Myoclonus, Ataxia, Anterior beaking of lumbar vertebrae, Scoliosis, Kyphosis, Slur... OMIM:230650
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Machado-Joseph Disease Type 1
Spasticity, Spinocerebellar tract degeneration, Abnormality of extrapyramidal motor function, Bab... ORPHA:276238
Machado-Joseph Disease Type 2
Spasticity, Spinocerebellar tract degeneration, Abnormality of extrapyramidal motor function, Bab... ORPHA:276241
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Amyotrophic lateral sclerosis, Fasciculations, Cranial nerve... ORPHA:52430
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis OMIM:300434
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Familial Cervical Artery Dissection
Paralysis, Facial palsy ORPHA:36382
Autosomal Recessive Spastic Paraplegia Type 53
Clonus, Kyphosis, Upper limb hypertonia ORPHA:319199
Synaptic Congenital Myasthenic Syndromes
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors, Frequent falls, Abn... ORPHA:98915
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Winchester Syndrome
Kyphosis OMIM:277950
Atypical Rett Syndrome
Involuntary movements, Spasticity, Pill-rolling tremor, Limb myoclonus, Hand apraxia, Gait ataxia... ORPHA:3095
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Spasticity, Scoliosis, Kyphosis ORPHA:2429
Intellectual Disability-Developmental Delay-Contractures Syndrome
Oculomotor apraxia, Scoliosis, Kyphosis ORPHA:3454
Immunoneurologic Disorder, X-Linked
Spastic paraplegia, Neonatal death OMIM:300076
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
X-Linked Adrenoleukodystrophy
Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsiness, Paralysis, Neurogenic b... ORPHA:43
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Apraxia, Parkinsonism, Abnormality of extrapyramidal moto... ORPHA:100070
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Death in childhood, Ankle clonus, Clumsiness, Vocal cord paralysis, Ataxia... OMIM:211530
Typical Nemaline Myopathy
Facial diplegia, Fatigable weakness of respiratory muscles, Fatiguable weakness of proximal limb ... ORPHA:171436
Spinocerebellar Ataxia Type 3
Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyramidal sign, Vocal cord par... ORPHA:98757
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Kyphosis, Ataxia ORPHA:85317
Hemifacial Atrophy, Progressive
Horner syndrome, Kyphosis, Ataxia OMIM:141300
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Spasticity, Chorea, Gait ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal... ORPHA:500180
Sjögren-Larsson Syndrome
Spasticity, Abnormal pyramidal sign, Scoliosis, Kyphosis, Spastic diplegia ORPHA:816
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal canal stenosis OMIM:301900
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis ORPHA:276630
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Tremor, Babinski sign, Hyperlordosis, Torticollis, Hypertonia, Facial palsy, Scoli... OMIM:128100
Brachyolmia Type 3
Platyspondyly, Short neck, Spinal cord compression, Scoliosis, Kyphosis OMIM:113500
Tick-Borne Encephalitis
Tongue fasciculations, Myelitis, Incoordination, Speech apraxia, Abnormal cranial nerve morpholog... ORPHA:297
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Kyphosis, Ataxia OMIM:300861
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:230800
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis ORPHA:505652
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Abnormal upper motor neuron morphology, Myoclonus, Babinski sign, Apraxia OMIM:221770
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Gait ataxia, Vocal cord paresis, Decreased motor nerve conduction velocity, Scoliosis OMIM:614895
Ullrich Congenital Muscular Dystrophy
Frequent falls, Short neck, Torticollis, Scoliosis, Kyphosis, Spinal rigidity ORPHA:75840
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Optic atrophy, Spasticity, Myoclonus, Neurogenic bladder, Vocal cord paralysis, Increased cup-to-... ORPHA:500144
Poliomyelitis
Myelitis, Fasciculations, Abnormal motor nerve conduction velocity, Hyperkinetic movements, Paral... ORPHA:2912
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Spasticity, Death in infancy, Neonatal death OMIM:613730
Myasthenic Syndrome, Congenital, 20, Presynaptic
Facial palsy, Scoliosis, Kyphosis, Fatigable weakness OMIM:617143
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Japanese Encephalitis
Pill-rolling tremor, Decreased motor nerve conduction velocity, Cogwheel rigidity, Myoclonus, Tre... ORPHA:79139
Spastic Paraplegia 9A, Autosomal Dominant
Spastic paraplegia, Resting tremor, Abnormal upper motor neuron morphology, Gait ataxia, Hoffmann... OMIM:601162
Autism Spectrum Disorder Due To Auts2 Deficiency
Spasticity, Cerebral palsy, Hypertonia, Scoliosis, Kyphosis ORPHA:352490
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Thoracolumbar scoliosis, Kyphosis OMIM:313420
Ichthyosis, Congenital, Autosomal Recessive 4B
Rigidity, Death in infancy, Neonatal death OMIM:242500
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Progressive spastic paraplegia, Lower limb spasticity, Ataxia, Scoliosis, Kyphosis ORPHA:464282
Crisponi Syndrome
Hypertonia, Scoliosis, Kyphosis, Death in infancy ORPHA:1545
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Scoliosis, Kyphosis, Ataxia OMIM:618124
Intellectual Developmental Disorder, Autosomal Dominant 26
Hypertonia, Scoliosis, Kyphosis, Cerebral palsy OMIM:615834
Gm2-Gangliosidosis, Ab Variant
Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle response, Spastic tet... OMIM:272750
Autosomal Recessive Ataxia, Beauce Type
Spasticity, Fasciculations, Dysmetria, Ankle clonus, Babinski sign, Clumsiness, Lower limb spasti... ORPHA:88644
Postencephalitic Parkinsonism
Involuntary movements, Resting tremor, Cogwheel rigidity, Rigidity, Babinski sign, Abnormal pyram... ORPHA:97349
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis ORPHA:2598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Frequent falls, Hyperlordosis, Vertebral fusion, Facial palsy, Scoliosis, Kyphosis OMIM:606612
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis, Abnormal autonomic nervous system physiology ORPHA:83601
Kleefstra Syndrome 2
Scoliosis, Kyphosis OMIM:617768
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Microcephalic Primordial Dwarfism, Montreal Type
Scoliosis, Kyphosis, Hypertonia, Vertebral segmentation defect ORPHA:2617
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Snakebite Envenomation
Respiratory paralysis, Paralysis, Pseudobulbar paralysis ORPHA:449285
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Kyphosis ORPHA:1548
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Infantile-Onset X-Linked Spinal Muscular Atrophy
Tongue fasciculations, Abnormal anterior horn cell morphology, Degeneration of anterior horn cell... ORPHA:1145
Weismann-Netter Syndrome
Scoliosis, Horizontal sacrum, Kyphosis OMIM:112350
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Vocal cord paresis, Decreased motor nerve conduction velocity, Lumbar hyperlordosi... OMIM:601152
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Abnormal sensory nerve conduction velocity, Gait ataxia, Abnormal spinal cord... ORPHA:88628
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Vocal cord paresis, Fasciculations, Tremor, Kyphoscoliosis, Polyminimyoclonus, Scoliosis OMIM:619574
Sialidosis Type 1
Abnormal form of the vertebral bodies, Decreased nerve conduction velocity, Myoclonus, Tremor, At... ORPHA:812
Metatropic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Abnormal intervertebral di... ORPHA:2635
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short neck, Spinal cord compression, Hyperlordosis, Kyphosis, Fused cervical vertebrae ORPHA:2522
Hall-Riggs Syndrome
Platyspondyly, Scoliosis, Kyphosis, Irregular vertebral endplates OMIM:234250
Combined Oxidative Phosphorylation Deficiency 21
Limb hypertonia, Neonatal death OMIM:615918
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Myopathy, Centronuclear, 2
Kyphosis, Facial palsy, Scoliosis, Hyperlordosis OMIM:255200
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hemiplegia, Scoliosis, Kyphosis ORPHA:2181
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Scoliosis, Hyperlordosis, Sacral dimple OMIM:615761
Baralle-Macken Syndrome
Spasticity, Kyphosis OMIM:619255
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Long coccyx, ... OMIM:156530
Sialidosis Type 2
Kyphosis, Tremor, Ataxia ORPHA:87876
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Scoliosis, Kyphosis ORPHA:178148
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Kyphosis OMIM:618234
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Hyperkalemic Periodic Paralysis
Cerebral palsy, Fasciculations, Periodic hyperkalemic paralysis, Death in early adulthood, Death ... ORPHA:682
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... OMIM:313400
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Wieacker-Wolff Syndrome
Spasticity, Short neck, Oculomotor apraxia, Apraxia, Hyperlordosis, Facial palsy, Scoliosis, Kyph... OMIM:314580
Foodborne Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:228371
Pelizaeus-Merzbacher Disease
Optic atrophy, Spasticity, Ataxia, Scoliosis, Kyphosis, Choreoathetosis ORPHA:702
Glioblastoma
Paralysis ORPHA:360
Marinesco-Sjogren Syndrome
Spasticity, Limb ataxia, Gait ataxia, Ataxia, Scoliosis, Kyphosis OMIM:248800
Mucopolysaccharidosis, Type Iva
Platyspondyly, Cervical myelopathy, Hypoplasia of the odontoid process, Lumbar kyphosis, Short ne... OMIM:253000
Mitochondrial Dna Depletion Syndrome 11
Facial palsy, Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity OMIM:615084
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Kyphosis, Kyphoscoliosis OMIM:618484
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Srd5A3-Cdg
Optic atrophy, Abnormal sacrum morphology, Kyphosis, Ataxia ORPHA:324737
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Scoliosis, Kyphosis OMIM:259440
Hypomelanosis Of Ito
Scoliosis, Kyphosis OMIM:300337
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis OMIM:601650
X-Linked Emery-Dreifuss Muscular Dystrophy
Kyphosis, Short neck, Hyperlordosis, Vocal cord paralysis, Scoliosis, Back pain, Spinal rigidity ORPHA:98863
Bresek Syndrome
Neonatal death, Aganglionic megacolon, Hemivertebrae, Scoliosis, Optic nerve hypoplasia ORPHA:85284
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Short neck, Multinucleated neuron, Stillbirth, Neonatal death OMIM:236500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Kyphosis OMIM:618138
Multiple Mitochondrial Dysfunctions Syndrome 1
Facial paralysis, Myoclonus, Death in infancy, Neonatal death, Abnormality of extrapyramidal moto... OMIM:605711
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Frequent falls, Hyperlordosis, Vertebral fusion, Scoliosis, Kyphosis OMIM:607155
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis ORPHA:1875
Mcdonough Syndrome
Scoliosis, Kyphosis ORPHA:2471
4Q21 Microdeletion Syndrome
Short neck, Scoliosis, Kyphosis, Tremor ORPHA:238750
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Kyphosis OMIM:130060
Jaberi-Elahi Syndrome
Optic atrophy, Gait ataxia, Dysmetria, Appendicular spasticity, Tremor, Scoliosis, Kyphosis, Chor... OMIM:617988
Scapuloperoneal Spinal Muscular Atrophy
Hyperlordosis, Torticollis, Facial palsy, Scoliosis, Kyphosis OMIM:181405
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Arthrogryposis, Distal, Type 5
Scoliosis, Kyphosis, Hypertonia OMIM:108145
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Kyphosis, Lumbar hyperlordosis, Short neck, Spinal cord compression, Cervical inst... ORPHA:94068
Emery-Dreifuss Muscular Dystrophy
Kyphosis, Hyperlordosis, Vocal cord paralysis, Scoliosis, Back pain, Spinal rigidity ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Kyphosis, Hyperlordosis, Vocal cord paralysis, Scoliosis, Back pain, Spinal rigidity ORPHA:98853
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormal form of the vertebral bodies ORPHA:93941
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:606070
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Scoliosis, Kyphosis OMIM:619797
Flynn-Aird Syndrome
Scoliosis, Kyphosis, Ataxia ORPHA:2047
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Wieacker-Wolff Syndrome, Female-Restricted
Spasticity, Short neck, Oculomotor apraxia, Facial palsy, Scoliosis, Kyphosis OMIM:301041
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Tremor, Kyphoscoliosis, Decreased distal sensory nerve action potential, Vocal cor... ORPHA:99956
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Cervical myelopathy, Hypoplasia of the odontoid process, Atlantoaxial instability,... OMIM:183900
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Cervical myelopathy, Hypoplasia of the odontoid process, Hyperlordosis, Ataxia, Ce... OMIM:253010
Zimmermann-Laband Syndrome 2
Short neck, Kyphosis OMIM:616455
Gm1-Gangliosidosis, Type I
Death in infancy, Hypoplastic vertebral bodies, Short neck, Beaking of vertebral bodies, Hyperton... OMIM:230500
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Scoliosis, Hyperlordosis, Kyphoscoliosis ORPHA:536516
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Kyphosis OMIM:300676
Rift Valley Fever
Hemiparesis, Paralysis, Paraparesis, Decerebrate rigidity, Back pain, Miscarriage ORPHA:319251
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra... ORPHA:93314
Rett Syndrome
Spasticity, Gait ataxia, Gait apraxia, Truncal ataxia, Scoliosis, Kyphosis OMIM:312750
Developmental Malformations-Deafness-Dystonia Syndrome
Death in early adulthood, Scoliosis, Kyphosis ORPHA:79107
Fetal Gaucher Disease
Hypertonia, Stillbirth, Death in infancy, Neonatal death ORPHA:85212
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Hyperlordosis ORPHA:3085
Autosomal Recessive Spastic Paraplegia Type 35
Spastic paraplegia, Optic atrophy, Dysdiadochokinesis, Dysmetria, Ankle clonus, Babinski sign, Lo... ORPHA:171629
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... OMIM:600501
Non-Functioning Paraganglioma
Vocal cord paralysis, Tremor, Cranial nerve compression ORPHA:94080
Lateral Meningocele Syndrome
Dural ectasia, Tethered cord, Biconcave vertebral bodies, Syringomyelia, Short neck, Neurogenic b... OMIM:130720
Bruck Syndrome 1
Platyspondyly, Scoliosis, Vertebral wedging, Kyphosis OMIM:259450
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Spasticity, Tremor, Abnormality of extrapyramidal motor function, Abnormal lower m... OMIM:614298
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic paralysis, Scoliosis, Periodic hypokalemic paresis ORPHA:37553
Ullrich Congenital Muscular Dystrophy 1A
Torticollis, Facial palsy, Scoliosis, Kyphosis, Spinal rigidity OMIM:254090
Becker Nevus Syndrome
Spina bifida occulta, Scoliosis, Kyphosis ORPHA:64755
Congenital Myopathy 22A, Classic
Frequent falls, Neonatal death, Thoracic scoliosis, Scoliosis, Kyphosis, Spinal rigidity OMIM:620351
Idiopathic Juvenile Osteoporosis
Vertebral compression fracture, Kyphosis ORPHA:85193
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Platyspondyly, Spasticity, Spastic tetraplegia, Optic atrophy, Rigidity... OMIM:618476
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Gait ataxia, Kyphosis, Tremor OMIM:300354
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Vocal cord paralysis OMIM:615490
Alpha-Mannosidosis
Short neck, Scoliosis, Kyphosis ORPHA:61
Frank-Ter Haar Syndrome
Beaking of vertebral bodies, Scoliosis, Kyphosis ORPHA:137834
Fliedner-Zweier Syndrome
Tethered cord, Scoliosis, Kyphosis, Hypertonia OMIM:620511
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity ORPHA:352447
Pseudoachondroplasia
Platyspondyly, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lumbar hyperlordosis... OMIM:177170
Inhalational Botulism
Paralysis ORPHA:254504
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Bruck Syndrome
Platyspondyly, Scoliosis, Kyphosis ORPHA:2771
Rhizomelic Syndrome, Urbach Type
Short neck, Kyphosis, Abnormal form of the vertebral bodies ORPHA:3098
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Myoclonus, Death in childhood, Death in infancy, Neonatal death, Death in adolescence, Clonus, Sc... OMIM:619055
Autosomal Recessive Spondylocostal Dysostosis
Abnormal form of the vertebral bodies, Vertebral segmentation defect, Short neck, Spina bifida oc... ORPHA:2311
Alg1-Cdg
Scoliosis, Kyphosis ORPHA:79327
Diastrophic Dysplasia
Kyphosis, Scoliosis, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies ORPHA:628
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Arthrogryposis, Distal, Type 4
Lumbar scoliosis, Scoliosis, Kyphosis, Torticollis OMIM:609128
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Short neck, Beaking ... OMIM:607326
Gm1 Gangliosidosis
Platyspondyly, Optic atrophy, Spasticity, Abnormal form of the vertebral bodies, Tremor, Abnormal... ORPHA:354
Uruguay Faciocardiomusculoskeletal Syndrome
Scoliosis, Kyphosis, Kyphoscoliosis OMIM:300280
Glossopharyngeal Neuralgia
Abnormality of the cervical spine, Vocal cord paralysis, Abnormal glossopharyngeal nerve morpholo... ORPHA:221098
Congenital Myopathy 15
Vocal cord paralysis OMIM:620161
Arthrogryposis Multiplex Congenita 6
Death in childhood, Death in infancy, Neonatal death OMIM:619334
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Ruvalcaba Syndrome
Scoliosis, Kyphosis OMIM:180870
Subaortic Stenosis-Short Stature Syndrome
Short neck, Scoliosis, Kyphosis ORPHA:3191
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple OMIM:618272
Alexander Disease
Spasticity, Chorea, Tremor, Short neck, Abnormal pyramidal sign, Clonus, Hyperlordosis, Tetrapleg... ORPHA:58
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis OMIM:176000
Lateral Meningocele Syndrome
Dural ectasia, Abnormal form of the vertebral bodies, Syringomyelia, Short neck, Hyperlordosis, S... ORPHA:2789
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
Clark-Baraitser syndrome
Scoliosis, Kyphosis OMIM:300602
Fountain Syndrome
Abnormal form of the vertebral bodies, Spina bifida, Spina bifida occulta, Scoliosis, Kyphosis ORPHA:3219
Difference Of Sex Development-Intellectual Disability Syndrome
Spina bifida occulta, Short neck, Kyphosis ORPHA:2983
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Scoliosis, Kyphosis, Sacral dimple OMIM:618291
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Combined Oxidative Phosphorylation Deficiency 11
Tongue fasciculations, Myoclonus, Death in childhood, Death in infancy, Neonatal death, Stillbirth OMIM:614922
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis OMIM:615433
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Scoliosis, Kyphosis ORPHA:1883
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Spasticity, Thoracolumbar scoliosis, Hyperlordosis, Ataxia, Scoliosis, Kyphosis OMIM:618443
X-Linked Intellectual Disability Due To Gria3 Mutations
Spasticity, Myoclonus, Babinski sign, Scoliosis, Kyphosis ORPHA:364028
Vocal Cord And Pharyngeal Distal Myopathy
Vocal cord paresis, Amyotrophic lateral sclerosis, Decreased nerve conduction velocity ORPHA:600
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting, Neonatal death OMIM:615709
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Thanatophoric Dysplasia
Platyspondyly, Abnormal sacroiliac joint morphology, Kyphosis ORPHA:2655
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Hemivertebrae, Vertebral fus... ORPHA:2916
Cockayne Syndrome Type 2
Lower limb spasticity, Limb hypertonia, Ataxia, Scoliosis, Kyphosis ORPHA:90322
Trisomy 20P
Platyspondyly, Abnormal form of the vertebral bodies, Incoordination, Vertebral segmentation defe... ORPHA:261318
Pontocerebellar Hypoplasia, Type 17
Spastic tetraplegia, Limb hypertonia, Kyphosis OMIM:619909
Fucosidosis
Spasticity, Spastic tetraplegia, Abnormal pyramidal sign, Anterior beaking of lumbar vertebrae, K... ORPHA:349
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism, Kyphosis, Caudal interpedicular narrowing, Scoliosis, Posterior scalloping of ... OMIM:603546
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
3C Syndrome
Optic atrophy, Death in infancy, Short neck, Hemivertebrae, Scoliosis, Kyphosis ORPHA:7
Stickler Syndrome, Type I
Platyspondyly, Spondylolisthesis, Morbus Scheuermann, Beaking of vertebral bodies, Scoliosis, Kyp... OMIM:108300
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Kyphosis, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity ORPHA:98855
Charcot-Marie-Tooth Disease Type 4C
Tongue fasciculations, Vocal cord paresis, Optic atrophy, Facial paralysis, Decreased motor nerve... ORPHA:99949
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Kyphosis OMIM:151800
Trisomy 9P
Short neck, Scoliosis, Kyphosis, Sacral dimple ORPHA:236
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Tetraparesis, Myoclonus, Paralysis, Hypertonia, Ataxia, Scoliosis OMIM:203700
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Platyspondyly, Thoracolumbar kyphosis, Kyphoscoliosis, Abnormal curvature of the vertebral column... ORPHA:93360
Mucolipidosis Iii Gamma
Kyphosis, Short neck, Scoliosis, Hyperlordosis OMIM:252605
Encephalocraniocutaneous Lipomatosis
Spasticity, Hemiplegia, Rigidity, Hemiparesis, Paralysis, Tetraplegia, Hypertonia ORPHA:2396
Schaaf-Yang Syndrome
Scoliosis, Kyphosis OMIM:615547
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Lumba... ORPHA:508533
Thyrotoxic Periodic Paralysis
Periodic hypokalemic paresis, Tremor, Respiratory paralysis, Paralysis, Tetraplegia ORPHA:79102
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic paralysis, Scoliosis, Periodic hypokalemic paresis OMIM:170390
Achondroplasia
Thoracolumbar kyphosis, Cervical spinal canal stenosis, Lumbar hyperlordosis, Spinal canal stenos... ORPHA:15
Coffin-Lowry Syndrome
Optic atrophy, Abnormal form of the vertebral bodies, Death in early adulthood, Hypertonia, Progr... ORPHA:192
Triosephosphate Isomerase Deficiency
Spasticity, Tremor, Death in infancy, Death in adolescence, Optic disc pallor, Kyphosis OMIM:615512
Developmental And Epileptic Encephalopathy 89
Spasticity, Tetraparesis, Death in childhood, Neonatal death, Hyperkinetic movements, Hypertonia,... OMIM:619124
Desbuquois Dysplasia 1
Platyspondyly, Short neck, Hyperlordosis, Scoliosis, Kyphosis OMIM:251450
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon, Kyphosis ORPHA:261222
Mucopolysaccharidosis Type 4
Platyspondyly, Spinal canal stenosis, Short neck, Hyperlordosis, Scoliosis, Kyphosis ORPHA:582
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ataxia, Optic disc pallor, Myoclonus, Neonatal death OMIM:619167
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Rigidity, Abnormality of extrapyramidal motor function, Babinski sign, Abnormal py... OMIM:617527
Thanatophoric Dysplasia Type 2
Platyspondyly, Kyphosis ORPHA:93274
Pelger-Huet Anomaly
Kyphosis, Lower limb hypertonia OMIM:169400
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Scoliosis, Kyphosis, Limb hypertonia OMIM:617190
Trisomy 13
Optic atrophy, Scoliosis, Kyphosis ORPHA:3378
Urban-Rogers-Meyer Syndrome
Short neck, Kyphosis ORPHA:3409
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormality of the vertebral column, Hemivertebrae, Abnormal intervertebral disk morphology, Scol... ORPHA:2062
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Thoracolumbar kyphosis, Spastic paraplegia, Limb ataxia, Paralysis, Oculomotor apraxia, Papillede... ORPHA:2072
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scoliosis, Kyphosis, Tremor OMIM:617061
Rett Syndrome, Congenital Variant
Spasticity, Chorea, Apraxia, Athetosis, Scoliosis, Kyphosis OMIM:613454
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Scoliosis, Kyphosis ORPHA:3121
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Short neck, Kyphosis ORPHA:3082
Micro Syndrome
Optic atrophy, Spasticity, Scoliosis, Kyphosis ORPHA:2510
Marfanoid Habitus With Situs Inversus
Scoliosis, Kyphosis OMIM:609008
Osteogenesis Imperfecta, Type Iii
Scoliosis, Kyphosis, Biconcave vertebral bodies OMIM:259420
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Lumbar hyperlordosis, Kyphosis, Neonatal death OMIM:616482
Cono-Spondylar Dysplasia
Short neck, Poor coordination, Scoliosis, Kyphosis ORPHA:420794
3M Syndrome
Increased vertebral height, Short neck, Hyperlordosis, Scoliosis, Kyphosis ORPHA:2616
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Sacral dimple, Neonatal death OMIM:314390
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Abnormality of extrapyramidal motor function, Rigidity, Progressive spastic quadri... ORPHA:521426
Emanuel Syndrome
Scoliosis, Kyphosis, Sacral dimple, Torticollis OMIM:609029
15Q24 Microdeletion Syndrome
Scoliosis, Kyphosis ORPHA:94065
Afibrinogenemia, Congenital
Death in adolescence, Death in childhood, Death in infancy, Neonatal death OMIM:202400
Mucopolysaccharidosis, Type Ii
Cervical cord compression, Short neck, Papilledema, Kyphosis OMIM:309900
Mucopolysaccharidosis, Type Vii
Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo... OMIM:253220
Congenital Disorder Of Glycosylation, Type Il
Short neck, Kyphosis OMIM:608776
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Scoliosis, Kyphosis OMIM:615381
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Spasticity, Tremor, Prominent protruding coccyx, Short neck, Prominent coccyx, Ataxia, Scoliosis,... OMIM:300966
Molybdenum Cofactor Deficiency, Type C
Limb hypertonia, Hypertonia, Neonatal death OMIM:615501
Congenital Disorder Of Glycosylation, Type Ia
Death in childhood, Dysmetria, Death in infancy, Tremor, Intention tremor, Ataxia, Kyphosis OMIM:212065
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Optic atrophy, Kyphosis, Dysmetria, Head titubation, Ataxia, Intention tremor OMIM:619708
19P13.12 Microdeletion Syndrome
Short neck, Scoliosis, Kyphosis ORPHA:254346
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Scoliosis, Kyphosis ORPHA:261190
2P15P16.1 Microdeletion Syndrome
Optic atrophy, Lower limb spasticity, Facial palsy, Scoliosis, Kyphosis, Optic nerve hypoplasia ORPHA:261349
Dyggve-Melchior-Clausen Disease
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Short neck, Beaking of v... OMIM:223800
Pycnodysostosis
Spondylolysis, Spondylolisthesis, Hyperlordosis, Upper motor neuron dysfunction, Scoliosis, Kyphosis ORPHA:763
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Scoliosis, Kyphosis ORPHA:404440
Dysostosis, Stanescu Type
Kyphosis, Short neck, Scoliosis, Hyperlordosis ORPHA:1798
Foxg1 Syndrome Due To 14Q12 Microdeletion
Scoliosis, Kyphosis ORPHA:261144
Megalocornea-Intellectual Disability Syndrome
Scoliosis, Kyphosis, Ataxia ORPHA:2479
Orofaciodigital Syndrome Iii
Myoclonus, Kyphosis OMIM:258850
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis OMIM:603387
African Trypanosomiasis
Involuntary movements, Myelitis, Myelopathy, Fasciculations, Abnormal central motor function, Tre... ORPHA:3385
Marshall-Smith Syndrome
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Optic nerve hypoplasia, Death in ch... OMIM:602535
Anaplastic Thyroid Carcinoma
Vocal cord paralysis ORPHA:142
X-Linked Intellectual Disability, Cabezas Type
Short neck, Scoliosis, Kyphosis, Tremor ORPHA:85293
Acro-Renal-Mandibular Syndrome
Butterfly vertebrae, Short neck, Hemivertebrae, Scoliosis, Kyphosis ORPHA:958
Gitelman Syndrome
Paralysis, Ataxia OMIM:263800
Basel-Vanagaite-Smirin-Yosef Syndrome
Spasticity, Scoliosis, Kyphosis OMIM:616449
Marden-Walker Syndrome
Short neck, Scoliosis, Kyphosis OMIM:248700
Sporadic Pheochromocytoma/Secreting Paraganglioma
Vocal cord paralysis, Tremor, Cranial nerve compression ORPHA:276621
Cole-Carpenter Syndrome
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2050
Cowden Syndrome 5
Scoliosis, Kyphosis, Intention tremor OMIM:615108
Microphthalmia, Lenz Type
Kyphosis, Scoliosis, Hyperlordosis, Optic disc coloboma ORPHA:568
Mosaic Trisomy 20
Spinal canal stenosis, Vertebral segmentation defect, Abnormal spinal cord morphology, Vertebral ... ORPHA:1724
Thanatophoric Dysplasia Type 1
Platyspondyly, Abnormal sacroiliac joint morphology, Kyphosis ORPHA:1860
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Kyphosis, Vertebral segmentation defect ORPHA:1005
Distal Triplication 15Q
Syringomyelia, Scoliosis, Kyphosis ORPHA:314588
Harrod Syndrome
Scoliosis, Kyphosis ORPHA:2115
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Optic atrophy, Scoliosis, Kyphosis OMIM:618493
Pheochromocytoma/Paraganglioma Syndrome 3
Vocal cord paralysis OMIM:605373
Cowden Syndrome 6
Scoliosis, Kyphosis, Intention tremor OMIM:615109
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Gait ataxia, Scoliosis, Kyphosis, Tremor ORPHA:476126
Holt-Oram Syndrome
Scoliosis, Kyphosis ORPHA:392
Koolen-De Vries Syndrome
Vertebral fusion, Scoliosis, Kyphosis, Vertebral segmentation defect ORPHA:96169
Cole-Carpenter Syndrome 2
Platyspondyly, Kyphosis OMIM:616294
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Scoliosis, Kyphosis OMIM:166220
Spondyloperipheral Dysplasia
Platyspondyly, Short neck, Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates OMIM:271700
Mucopolysaccharidosis Type 6
Short neck, Kyphosis, Ovoid vertebral bodies ORPHA:583
Weaver Syndrome
Spasticity, Hypertonia, Scoliosis, Kyphosis, Poor fine motor coordination, Slurred speech OMIM:277590
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Spasticity, Kyphoscoliosis, Hemivertebrae, Scoliosis, Kyphosis OMIM:301040
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Scoliosis, Kyphosis OMIM:619951
Pineoblastoma
Paralysis, Papilledema ORPHA:251909
Hurler-Scheie Syndrome
Scoliosis, Kyphosis OMIM:607015
Osteopetrosis, Autosomal Recessive 3
Optic nerve compression, Periodic hypokalemic paresis OMIM:259730
Schwartz-Jampel Syndrome
Platyspondyly, Blepharospasm, Death in infancy, Abnormally straight spine, Short neck, Hyperlordo... ORPHA:800
16Q24.3 Microdeletion Syndrome
Scoliosis, Kyphosis, Optic nerve hypoplasia ORPHA:261250
Pheochromocytoma/Paraganglioma Syndrome 1
Vocal cord paralysis OMIM:168000
Koolen-De Vries Syndrome
Spondylolisthesis, Vertebral fusion, Scoliosis, Kyphosis, Sacral dimple OMIM:610443
Cowden Syndrome 1
Scoliosis, Kyphosis, Intention tremor OMIM:158350
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Platyspondyly, Thoracolumbar kyphosis, Thoracic platyspondyly, Thoracolumbar scoliosis, Hyperlord... OMIM:618019
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Optic atrophy, Tethered cord, Abnormality of the vertebral column,... ORPHA:280
Spondyloenchondrodysplasia
Platyspondyly, Spasticity, Chorea, Kyphosis ORPHA:1855
Hurler Syndrome
Hypoplasia of the odontoid process, Biconcave vertebral bodies, Short neck, C1-C2 subluxation, Ky... OMIM:607014
Mucolipidosis Iii Alpha/Beta
Kyphosis, Scoliosis, Spondylolisthesis OMIM:252600
Pituitary Adenoma 4, Acth-Secreting
Vertebral compression fracture, Kyphosis, Biconcave vertebral bodies OMIM:219090
Genitopalatocardiac Syndrome
Scoliosis, Kyphosis ORPHA:2075
Hereditary Pheochromocytoma-Paraganglioma
Vocal cord paralysis, Tremor, Cranial nerve compression ORPHA:29072
Multiple Pterygium-Malignant Hyperthermia Syndrome
Scoliosis, Kyphosis ORPHA:2215
2Q31.1 Microdeletion Syndrome
Optic disc coloboma, Vertebral segmentation defect, Short neck, Scoliosis, Kyphosis ORPHA:251014
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Pseudoxanthoma Elasticum, Forme Fruste
Scoliosis, Kyphosis OMIM:177850
Campomelic Dysplasia
Short neck, Scoliosis, Kyphosis, Poorly ossified cervical vertebrae ORPHA:140
Marfanoid-Progeroid-Lipodystrophy Syndrome
Dural ectasia, Kyphosis OMIM:616914
Cohen Syndrome
Optic atrophy, Scoliosis, Kyphosis ORPHA:193
Intellectual Developmental Disorder, Autosomal Dominant 54
Hyperkinetic movements, Lower limb spasticity, Vocal cord paralysis, Ataxia, Athetoid cerebral palsy OMIM:617799
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis OMIM:219080
Basel-Vanagaite-Smirin-Yosef Syndrome
Spasticity, Scoliosis, Kyphosis ORPHA:464738
Distal Renal Tubular Acidosis
Paralysis ORPHA:18
Cockayne Syndrome
Optic atrophy, Spasticity, Decreased nerve conduction velocity, Action tremor, Intention tremor, ... ORPHA:191
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis OMIM:610475
Congenital Heart Defects And Skeletal Malformations Syndrome
Scoliosis, Kyphosis OMIM:617602
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Aganglionic megacolon, Scoliosis, Hyperlordosis OMIM:162300
Noonan Syndrome 14
Short neck, Kyphosis OMIM:619745
Camurati-Engelmann Disease
Optic atrophy, Abnormality of the vertebral column, Optic nerve compression, Hyperlordosis, Ataxi... ORPHA:1328
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Scoliosis, Kyphosis ORPHA:500055
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Biconcave vertebral bodies, Kyphoscoliosis, Severe platyspondyly, Vertebral compre... OMIM:259770
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis OMIM:619244
Spondyloarthropathy, Susceptibility To, 1
Sacroiliac arthritis, Kyphosis, Back pain OMIM:106300
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Vertebral compression fracture, Scoliosis, Kyphosis OMIM:610915
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Scoliosis, Kyphosis, Hemiplegia/hemiparesis ORPHA:394
Koolen-De Vries Syndrome Due To A Point Mutation
Optic atrophy, Dural ectasia, Cervical spinal canal stenosis, Speech apraxia, Spondylolisthesis, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Optic atrophy, Dural ectasia, Cervical spinal canal stenosis, Speech apraxia, Spondylolisthesis, ... ORPHA:363958
Multiple Pterygium Syndrome, Escobar Variant
Anterior clefting of vertebral bodies, Short neck, Thoracolumbar scoliosis, Scoliosis, Kyphosis, ... OMIM:265000
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Scoliosis, Kyphosis, Death in childhood OMIM:619005
Cockayne Syndrome Type 3
Intention tremor, Abnormality of peripheral nerve conduction, Neurogenic bladder, Optic disc pall... ORPHA:90324
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Cerebrocostomandibular Syndrome
Spina bifida, Kyphosis, Death in infancy ORPHA:1393
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Spastic tetraplegia, Spasticity, Cerebral palsy, Spastic diplegia, Intention tremor, Back pain, P... OMIM:619475
Intellectual Developmental Disorder, Autosomal Dominant 73
Spasticity, Lumbar hyperlordosis, Apraxia, Thoracolumbar scoliosis, Hyperlordosis, Scoliosis, Kyp... OMIM:620450
Prader-Willi Syndrome
Poor gross motor coordination, Scoliosis, Kyphosis, Poor fine motor coordination OMIM:176270
Alkaptonuria
Low back pain, Vertebral fusion, Kyphosis, Intervertebral disk degeneration OMIM:203500
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Death in... OMIM:133540
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Gait ataxia, Scoliosis, Hyperlordosis OMIM:617011
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Scoliosis, Kyphosis OMIM:619557
Atelis Syndrome 2
Dysmetria, Kyphosis, Sacral dimple OMIM:620185
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Kyphosis, Sacral dimple, Kyphoscoliosis ORPHA:536532
Gitelman Syndrome
Paralysis ORPHA:358
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Scoliosis, Kyphosis, Hemivertebrae OMIM:618223
Hajdu-Cheney Syndrome
Hypoplastic 5th lumbar vertebrae, Biconcave vertebral bodies, Syringomyelia, Short neck, Scoliosi... ORPHA:955
Autosomal Recessive Robinow Syndrome
Death in infancy, Vertebral segmentation defect, Short neck, Scoliosis, Kyphosis, Sacral dimple ORPHA:1507
Robinow Syndrome, Autosomal Dominant 3
Short neck, Scoliosis, Kyphosis, Sacral dimple OMIM:616894
Schinzel-Giedion Syndrome
Spasticity, Kyphoscoliosis, Aganglionic megacolon, Short neck, Vocal cord paralysis, Hypertonia, ... ORPHA:798
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of the cervical spine, Optic disc pallor, Scoliosis, Kyphosis ORPHA:464311
Magel2-Related Prader-Willi-Like Syndrome
Scoliosis, Kyphosis ORPHA:398069
Intellectual Developmental Disorder, X-Linked 112
Scoliosis, Kyphosis, Kyphoscoliosis OMIM:301111
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis OMIM:610489
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Short neck, Scoliosis, Kyphosis, Hypertonia OMIM:619194
X-Linked Intellectual Disability, Snyder Type
Involuntary movements, Myoclonus, Kyphosis, Kyphoscoliosis ORPHA:3063
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Intervertebral space narrowing, Narrow vertebral interpedicular distance, K... OMIM:143095
Mgat2-Cdg
Scoliosis, Kyphosis ORPHA:79329
Cleidocranial Dysplasia 1
Spondylolysis, Spondylolisthesis, Syringomyelia, Scoliosis, Kyphosis OMIM:119600
Dyrk1A-Related Intellectual Disability Syndrome
Abnormality of the cervical spine, Optic disc pallor, Scoliosis, Kyphosis ORPHA:464306
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Osteogenesis Imperfecta
Cervical kyphosis, Abnormal form of the vertebral bodies, Tetraparesis, Enlarged vertebral pedicl... ORPHA:666
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Tremor, ... OMIM:216400
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Speech apraxia, Tremor, Kyphoscoliosis, Ataxia, Scoliosis, Kyphosis OMIM:300967
Intellectual Developmental Disorder, Autosomal Dominant 57
Scoliosis, Kyphosis OMIM:618050
Smith-Lemli-Opitz Syndrome
Optic atrophy, Abnormal form of the vertebral bodies, Aganglionic megacolon, Short neck, Hyperton... ORPHA:818
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis OMIM:239000
Mend Syndrome
Abnormal auditory evoked potentials, Limb hypertonia, Kyphosis, Sacral dimple ORPHA:401973
Frank-Ter Haar Syndrome
Prominent coccyx, Kyphosis, Anterior concavity of thoracic vertebrae, Kyphoscoliosis OMIM:249420
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Scoliosis, Kyphosis OMIM:619718
Monosomy 9Q22.3
Short neck, Abnormality of the vertebral column, Kyphosis ORPHA:77301
Tyrosinemia, Type I
Periodic paralysis OMIM:276700
Cardiofacioneurodevelopmental Syndrome
Kyphosis OMIM:619123
Cdags Syndrome
Kyphosis OMIM:603116
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Gait ataxia, Kyphosis, Kyphoscoliosis ORPHA:457359
Ramon Syndrome
Optic disc pallor, Scoliosis, Kyphosis OMIM:266270
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Scoliosis, Kyphosis ORPHA:1969
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Zttk Syndrome