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Gene: Top2b MGI:98791

Gene Summary

Name:

topoisomerase (DNA) II beta

Synonyms:

Top-2, D230016L12Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
cleft palate	Top2b^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal placenta morphology	Top2b^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal head shape	Top2b^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal craniofacial morphology	Top2b^em1(IMPC)Mbp	HOM	E15.5	0.00
preweaning lethality, complete penetrance	Top2b^em1(IMPC)Mbp	HOM	Early adult	0.00
persistence of hyaloid vascular system	Top2b^em1(IMPC)Mbp	HET	Early adult	2.13×10^-07
abnormal eye morphology	Top2b^em1(IMPC)Mbp	HET	Early adult	0.00
embryonic growth retardation	Top2b^em1(IMPC)Mbp	HOM	E15.5	0.00
small spleen	Top2b^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal spleen morphology	Top2b^em1(IMPC)Mbp	HET	Early adult	0.00
edema	Top2b^em1(IMPC)Mbp	HOM	E15.5	0.00

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lacZ Expression

Expression data not available

Associated Images

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

Gross Morphology Embryo E14.5-E15.5

Images

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Human diseases caused by Top2b 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.

Human diseases associated with Top2b (0 diseases)
Human diseases predicted to be associated with Top2b (910 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Top2b by phenotypic similarity.

Disease	Matching phenotypes	Source
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Ankle...	OMIM:600561
Hereditary Neuropathy With Liability To Pressure Palsies	Vocal cord paralysis, Respiratory insufficiency, Scoliosis	ORPHA:640
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Spinal rigidity, Respiratory insufficiency due to muscle weakness, Death in adolescence, Respirat...	OMIM:300717
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Apnea, Rigidity, Respiratory insufficiency, Respiratory failure, Hypertonia	OMIM:613869
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure, Paralysis	ORPHA:132
Lissencephaly, X-Linked, 1	Death in infancy, Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum...	OMIM:300067
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter h...	OMIM:604213
Orofacial Cleft 11	Cleft lip, Cleft palate	OMIM:600625
Primary Lateral Sclerosis, Adult, 1	Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ...	OMIM:611637
Sub-Cortical Nodular Heterotopia	Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig...	ORPHA:101029
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory insufficiency, Respiratory failure, Hypertonia	OMIM:611722
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis	OMIM:105500
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Abnormal vertebral morphology, Abnormality of neuronal migration	OMIM:618709
Spastic Paraplegia 18B, Autosomal Recessive	Lower limb spasticity, Kyphosis, Babinski sign, Spastic paraplegia, Ankle clonus, Upper limb spas...	OMIM:611225
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis	OMIM:158580
Spinal Muscular Atrophy, Type I	Respiratory failure, Tongue fasciculations, Respiratory insufficiency, Death in childhood	OMIM:253300
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness, Tremor,...	ORPHA:2590
Lissencephaly 3	Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr...	OMIM:611603
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Short neck, Paucity of anterior horn motor neurons, Kypho...	OMIM:611890
Lethal Congenital Contracture Syndrome 3	Neonatal death, Respiratory insufficiency	OMIM:611369
Pontocerebellar Hypoplasia, Type 1C	Spastic tetraparesis, Respiratory insufficiency, Respiratory failure, Tongue fasciculations, Deat...	OMIM:616081
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Ex...	ORPHA:71277
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Vocal cord paralysis	OMIM:607641
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progre...	ORPHA:95434
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Tongue fasciculations, Respiratory failure, Fasciculations	OMIM:613435
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:615411
Glut1 Deficiency Syndrome 1	Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity	OMIM:606777
Juvenile Primary Lateral Sclerosis	Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Abnormal upper motor neuron mo...	ORPHA:247604
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio...	OMIM:600348
Hyperekplexia 4	Kyphoscoliosis, Respiratory failure, Hypertonia, Myoclonus, Umbilical hernia	OMIM:618011
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Diaphragmatic paralysis, Respiratory insufficiency, Restrictive ventilatory...	OMIM:614399
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Bab...	OMIM:613954
Developmental And Epileptic Encephalopathy 71	Simplified gyral pattern, Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Lissencephaly 1	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:607432
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Paralysis	OMIM:608634
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Tremor, Dyspnea, Respiratory failure, Limb fa...	ORPHA:90117
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Rigidity, Respiratory failure, Myoclonus, Aspiration pneumonia, In...	OMIM:619057
Cleidocranial Dysplasia, Recessive Form	Severe short stature, Brachycephaly	OMIM:216330
Microlissencephaly	Subcortical heterotopia, Pneumonia, Periventricular heterotopia, Simplified gyral pattern, Lissen...	ORPHA:1083
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Respiratory failure, Hypertonia, Myoclonus, Spasticity	OMIM:225753
Isolated Dandy-Walker Malformation	Encephalocele, Frontal bossing, Cleft palate, Prominent occiput, Platybasia	ORPHA:217
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Myasthenic Syndrome, Congenital, 16	Apnea, Periodic paralysis, Hyperlordosis	OMIM:614198
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth, A...	OMIM:276950
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Porphyria, Acute Hepatic	Respiratory paralysis, Paralysis	OMIM:612740
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Respiratory insufficiency due to muscle wea...	OMIM:300718
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Neonatal asphyxia, Vocal cord paralysis, Bronchiectasis, Congenital laryngeal stridor	ORPHA:2375
Primary Lateral Sclerosis, Juvenile	Appendicular spasticity, Spastic tetraparesis, Babinski sign, Spastic dysarthria, Pseudobulbar pa...	OMIM:606353
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology, Babinski sign, Spastic paraplegia, Spastic tetraplegia, T...	OMIM:607225
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Amyotrophic lateral sclerosis, Paralysis	OMIM:300857
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness, Scolios...	OMIM:611067
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ...	OMIM:602099
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Short neck, Dyspnea, Respiratory failure, Intrauterine growth retardation	ORPHA:1832
Spondylometaphyseal Dysplasia, X-Linked	Thoracolumbar scoliosis, Kyphosis, Respiratory insufficiency, Platyspondyly, Respiratory failure	OMIM:313420
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Respiratory failure, Ataxia	OMIM:618637
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce...	ORPHA:266
Ceroid Lipofuscinosis, Neuronal, 10	Ataxia, Apnea, Rigidity, Respiratory insufficiency, Respiratory failure, Neonatal death, Spasticity	OMIM:610127
Neuropathy, Hereditary Motor And Sensory, Russe Type	Scoliosis, Paralysis	OMIM:605285
2q33.1 deletion syndrome	Short stature, High palate, Cleft palate	DECIPHER:51
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly	ORPHA:352682
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Atrophy o...	ORPHA:35689
Spinocerebellar Ataxia Type 26	Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa...	ORPHA:101112
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Dyspnea, Abnormal respiratory sys...	ORPHA:803
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Thomas Syndrome	Cleft upper lip, Oligohydramnios, Cleft palate, Dolichocephaly	ORPHA:3316
Parastremmatic Dwarfism	Kyphosis, Scoliosis, Short neck	OMIM:168400
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Lower limb spasticity, Spinal rigidity, Hyperlordosis, Kyphosis, Respiratory insufficiency, Scoli...	OMIM:617404
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Postnatal growth retardation, Thick lower lip vermilion, Brachycephaly, Wide mouth, Thick upper l...	OMIM:309545
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Ataxia, Tremor, Kyphoscoliosis	OMIM:619099
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Pachygyria, Agyria	ORPHA:1084
Parkinson-Dementia Syndrome	Parkinsonism, Kyphoscoliosis, Tremor, Rigidity, Abnormal pyramidal sign	OMIM:260540
Muscular Dystrophy, Congenital, 1B	Respiratory failure, Spinal rigidity	OMIM:604801
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Respiratory failure, Pachygyria, Agenesis of corpus callosum	ORPHA:168486
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Lethal Congenital Contracture Syndrome 8	Neonatal death, Death in infancy, Vocal cord paralysis	OMIM:616287
Congenital Muscular Dystrophy With Intellectual Disability	Neuropathic spinal arthropathy, Poor gross motor coordination, Respiratory insufficiency, Respira...	ORPHA:370968
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Respiratory insufficiency due to muscle weakness, Kyphosis, Perisylvian polymicrog...	OMIM:618291
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Spinal rigidity, Short neck, Kyphosis, Respiratory failure, Scoliosis, Frequent falls	ORPHA:75840
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Tooth agenesis, Non-midline cleft lip, Cleft palate	ORPHA:1074
Nemaline Myopathy 8	Death in infancy, Respiratory failure	OMIM:615348
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Renal Hypodysplasia/Aplasia 4	Respiratory failure	OMIM:619887
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea, Spasticity	OMIM:616277
Toxin-Mediated Infectious Botulism	Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Dyspnea, Diaphragmat...	ORPHA:230800
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Neuromyelitis Optica Spectrum Disorder	Respiratory failure, Paraplegia, Myelitis	ORPHA:71211
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida, Abnormality of neuronal migration	ORPHA:945
Pontocerebellar Hypoplasia Type 1	Ataxia, Congenital laryngeal stridor, Degeneration of anterior horn cells, Respiratory failure, T...	ORPHA:2254
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate, Craniosynostosis, Intrauterine growth retardation	OMIM:600252
Congenital Myopathy 21 With Early Respiratory Failure	Spinal rigidity, Dyspnea, Respiratory failure, Nocturnal hypoventilation, Intrauterine growth ret...	OMIM:620326
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Microcephaly-Microcornea Syndrome, Seemanova Type	Short stature, Brachycephaly, Growth delay, High palate, Narrow mouth	ORPHA:2528
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Colpocephaly, Pachygyria	OMIM:614870
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
Subependymal Nodular Heterotopia	Occipital encephalocele, Partial agenesis of the corpus callosum, Meningocele, Myelomeningocele, ...	ORPHA:101030
Adenylosuccinate Lyase Deficiency	Thin upper lip vermilion, Flat occiput, Brachycephaly, Long philtrum, Smooth philtrum	ORPHA:46
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Respiratory insufficiency due to muscle weakness, Kyphosis, Scoliosis	OMIM:617087
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Paralysis	OMIM:613710
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Tachypnea, Diaphragmatic paralysis, Degeneration of anterior horn cells, Respiratory failure, Int...	OMIM:604320
Congenital Myopathy 14	Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea	OMIM:618414
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Thoracic scoliosis, Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplif...	OMIM:616171
Amyotrophic Lateral Sclerosis 2, Juvenile	Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Ata...	OMIM:205100
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Ataxia, Kyphosis, Dyspn...	OMIM:211530
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro...	OMIM:271530
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Respiratory failure, Hypertonia, Myoclonus	OMIM:618240
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Polymicrogyria Due To Tubb2B Mutation	Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Lissencephaly,...	ORPHA:300573
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Amyotrophic lateral sclerosis, Tetraparesis, Respiratory insufficiency, Spasticity	OMIM:617892
X-Linked Charcot-Marie-Tooth Disease Type 1	Tremor, Kyphosis, Ataxia, Scoliosis	ORPHA:101075
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Respiratory failure, Hypertonia, Myoclonus...	OMIM:616505
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Pulmonary arterial hypertension, Stillbirth, Scoliosi...	OMIM:619751
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Spastic tetraparesis, Respiratory insufficiency, Opisthotonus, Respiratory fail...	OMIM:605711
Cleft Palate, Isolated	Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate	OMIM:119540
Spastic Paraplegia 46, Autosomal Recessive	Lower limb spasticity, Kyphosis, Babinski sign, Spastic paraplegia, Hand tremor, Ankle clonus, Up...	OMIM:614409
Variegate Porphyria	Paralysis	OMIM:176200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Restrictive ventilatory defect, Respiratory failure, S...	OMIM:606612
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Ty...	OMIM:615191
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,...	OMIM:604317
Metatropic Dysplasia	Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx...	OMIM:156530
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration, Respiratory insufficiency	ORPHA:1314
Acute Peripheral Arterial Occlusion	Paralysis	ORPHA:90064
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Kyphosis, Ataxia, Scoliosis	ORPHA:101078
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ...	OMIM:245400
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Ataxia, Tachypnea, Respiratory insufficiency, Respiratory...	OMIM:614299
Arthrogryposis Multiplex Congenita 6	Neonatal death, Death in infancy, Respiratory failure, Death in childhood	OMIM:619334
Lethal Congenital Contracture Syndrome 7	Paralysis	OMIM:616286
Glutathionuria	Gray matter heterotopia, Asthma, Agenesis of corpus callosum	OMIM:231950
Masa Syndrome	Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia	OMIM:303350
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Opisthotonus, Respiratory failure, Intrauterine growth retardation, Spasticity	OMIM:610678
Kleefstra Syndrome 2	Plagiocephaly, Growth delay, Everted lower lip vermilion, Midface retrusion, Bifid uvula	OMIM:617768
Rabies	Vocal cord paresis, Cerebral palsy	ORPHA:770
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Postural tremor, Abnormal spinal cord morphology, Babinski sign, Vocal cord paralysis, Hand tremo...	ORPHA:99947
Mitochondrial Complex I Deficiency, Nuclear Type 15	Neonatal death, Intrauterine growth retardation, Kyphosis, Spastic tetraplegia	OMIM:618237
Severe Neurodegenerative Syndrome With Lipodystrophy	Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Respiratory failur...	ORPHA:363400
Parietal Foramina 1	Parietal foramina, Encephalocele, Cleft palate, Cleft upper lip	OMIM:168500
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Abnormal motor neuron morphology	DECIPHER:29
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Spinal rigidity, Respiratory insufficiency due to muscle weakness...	ORPHA:352447
Spinocerebellar Ataxia Type 1	Postural tremor, Chorea, Slurred speech, Dysmetria, Bradykinesia, Progressive cerebellar ataxia, ...	ORPHA:98755
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,...	OMIM:105550
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramidal motor function, Scol...	OMIM:610743
Pneumocystosis	Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins...	ORPHA:723
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum	ORPHA:2512
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	ORPHA:231736
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Neurogenic bladder, Facial-lingual fasciculations, Babins...	ORPHA:276244
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Lower limb spasticity, Hyperlordosis, Kyphosis, Babinski sign, Restrictive ventilatory defect, Fa...	OMIM:615290
Pyruvate Dehydrogenase E1-Alpha Deficiency	Tremor, Apneic episodes precipitated by illness, fatigue, stress, Choreoathetosis, Respiratory fa...	OMIM:312170
Thanatophoric Dysplasia Type 2	Encephalocele, Kyphosis, Hydrocephalus, Abnormality of neuronal migration, Respiratory insufficie...	ORPHA:93274
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Torticollis, Ataxia, Tremor, Myelopathy, Rigidity, Cervical myelopathy, Respiratory failure, Brad...	OMIM:617186
Postsynaptic Congenital Myasthenic Syndromes	Thoracic kyphoscoliosis, Reduced vital capacity, Orthopnea, Restrictive ventilatory defect, Respi...	ORPHA:98913
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterotopia, Agen...	OMIM:207950
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lower limb spasticity, Lumbar hyperlordosis, Ataxia, Kyphosis, Scoliosis	OMIM:616756
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Respiratory failure, Tachypnea, Cough	OMIM:263000
Asbestos Intoxication	Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La...	ORPHA:2302
Lissencephaly 6 With Microcephaly	Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplified gyral pattern, M...	OMIM:616212
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ...	OMIM:265120
Hypokalemic Periodic Paralysis	Periodic hypokalemic paresis, Respiratory paralysis, Paralysis	ORPHA:681
Ciliary Dyskinesia, Primary, 5	Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat...	OMIM:608647
Hereditary Motor And Sensory Neuropathy, Type Iic	Stridor, Respiratory failure, Scoliosis, Intercostal muscle weakness, Vocal cord paresis	OMIM:606071
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Frontal bossing, Thin upper lip vermilion, Short stature, Craniosynostosis, Pyloric stenosis, Bra...	ORPHA:314575
Fetal Akinesia Deformation Sequence 4	Neonatal death, Kyphosis, Prenatal death, Short neck	OMIM:618393
Foodborne Botulism	Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly...	ORPHA:228371
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissenceph...	ORPHA:89844
Atypical Rett Syndrome	Sudden episodic apnea, Episodic tachypnea, Involuntary movements, Tremor, Kyphosis, Limb myoclonu...	ORPHA:3095
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Short stature, Nonimmune hydrops fetalis, Craniosynostosis, Cleft palate, Plagiocephaly, Decrease...	OMIM:618265
X-Linked Adrenoleukodystrophy	Neurogenic bladder, Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clum...	ORPHA:43
Spondylocostal Dysostosis 3, Autosomal Recessive	Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume...	OMIM:609813
Multiple Mitochondrial Dysfunctions Syndrome 3	Intrauterine growth retardation, Respiratory failure, Spastic tetraplegia, Respiratory insufficiency	OMIM:615330
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Tremor, Kyphosis, Paraparesis, Scoliosis	ORPHA:99014
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis	ORPHA:140989
Spastic Paraplegia 53, Autosomal Recessive	Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Upper limb hypertonia	OMIM:614898
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Opisthotonus, Respiratory failure, Hy...	OMIM:619847
Mitochondrial Complex I Deficiency, Nuclear Type 10	Ataxia, Apnea, Central hypoventilation, Dysmetria, Respiratory failure	OMIM:618233
German Syndrome	Short stature, Lymphedema, Brachycephaly, Orofacial cleft, High palate, Everted lower lip vermili...	ORPHA:2077
Alg1-Cdg	Kyphosis, Respiratory failure, Scoliosis	ORPHA:79327
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac...	ORPHA:454836
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Ataxia, Tongue fasciculations	OMIM:620007
Gm1-Gangliosidosis, Type Iii	Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae	OMIM:230650
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Abnormal cortical gyration, Respiratory failure	OMIM:616867
Snakebite Envenomation	Epistaxis, Paralysis, Respiratory failure, Pseudobulbar paralysis, Respiratory paralysis	ORPHA:449285
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Kyphosis, Abnormal pyramidal sign, Dysmetria, Scoliosis, Intrauterine growth retardation,...	ORPHA:48431
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology, Neurogenic bladder, Spastic paraplegia, Tetraparesis	OMIM:263570
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o...	OMIM:602433
Myasthenic Syndrome, Congenital, 25, Presynaptic	Kyphosis, Scoliosis, Spinal rigidity	OMIM:618323
Craniosynostosis, Herrmann-Opitz Type	Turricephaly, Short stature, Craniosynostosis, Brachycephaly, Cleft palate, Intrauterine growth r...	ORPHA:2145
Leigh Syndrome	Ataxia, Respiratory insufficiency, Respiratory failure, Spasticity, Abnormal pattern of respiration	OMIM:256000
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Hyperlordosis, Upper motor neuron dysfunction, Abnormal motor neur...	ORPHA:52430
Machado-Joseph Disease Type 1	Neurogenic bladder, Facial-lingual fasciculations, Babinski sign, Abnormal pyramidal sign, Vocal ...	ORPHA:276238
Machado-Joseph Disease Type 2	Neurogenic bladder, Facial-lingual fasciculations, Babinski sign, Abnormal pyramidal sign, Vocal ...	ORPHA:276241
Lopes-Maciel-Rodan Syndrome	Tremor, Kyphosis, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Hypertonia, Scoliosis, Spa...	OMIM:617435
Chopra-Amiel-Gordon Syndrome	Thin upper lip vermilion, Short stature, Postnatal growth retardation, Cleft lip, Pierre-Robin se...	OMIM:619504
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons, Widening of cervical spinal canal, Neonatal death	OMIM:253310
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Lumbar hyperlordosis, Kyphosis, Hydrocephalus, Respiratory f...	OMIM:616482
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Respiratory failure	ORPHA:1861
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Neuropathic spinal arthropathy, Vocal cord paresis	OMIM:607706
Chromosome 22Q11.2 Deletion Syndrome, Distal	Thin upper lip vermilion, Short stature, Cleft palate, Intrauterine growth retardation, Smooth ph...	OMIM:611867
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H...	OMIM:272750
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure, Chorea, Ataxia, Spasticity	ORPHA:70472
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Ataxia, Spastic tetraparesis, Tachypnea, Babinski sign, Respiratory failure, Death in childhood, ...	OMIM:615838
Charcot-Marie-Tooth Disease Type 4A	Neuropathic spinal arthropathy, Poor gross motor coordination, Poor fine motor coordination, Rest...	ORPHA:99948
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Cleft palate, Plagiocephaly, Downturned corners of mouth, Ectopic anus, Short philtrum	ORPHA:94066
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Plagiocephaly, Flat occiput, Brachycephaly	ORPHA:2898
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis	OMIM:618453
Boucher-Neuhauser Syndrome	Ataxia, Gait ataxia, Abnormal upper motor neuron morphology, Spasticity, Intention tremor	OMIM:215470
Neuropathy, Congenital Hypomyelinating, 3	Babinski sign, Respiratory insufficiency, Respiratory failure, Neonatal death, Spasticity	OMIM:618186
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
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
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Spinocerebellar Ataxia Type 3	Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma...	ORPHA:98757
Edinburgh Malformation Syndrome	Hydrocephalus, Abnormality of neuronal migration, Respiratory insufficiency	ORPHA:1895
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies, Death in infancy	ORPHA:1354
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Joubert Syndrome	Encephalocele, Apnea, Episodic tachypnea, Hydrocephalus, Abnormality of neuronal migration, Abnor...	ORPHA:475
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Hemivertebrae, Abnormal form of the vertebral bodies, Respiratory ...	ORPHA:2759
Crisponi Syndrome	Death in infancy, Kyphosis, Respiratory insufficiency, Hypertonia, Scoliosis	ORPHA:1545
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Reduced vital capacity, Short neck, Kyphosis, Respiratory insufficiency, Scoliosis	ORPHA:178148
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Abnormal anterior horn cell morphology, Kyphoscoliosis, Respiratory insuffi...	ORPHA:1145
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Respiratory failure, Stillbirth, Tongue fasciculations, Myoclonus, Death in chi...	OMIM:614922
Bethlem Myopathy 2	Kyphosis, Scoliosis	OMIM:616471
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Death in infancy, Subcortical heterotopia, Agyria, Partial agenesis of the corpus ...	OMIM:614643
Tibial Muscular Dystrophy	Respiratory failure, Clumsiness	ORPHA:609
Achondrogenesis, Type Ii	Frontal bossing, Edema, Polyhydramnios, Disproportionate short-trunk short stature, Brachycephaly...	OMIM:200610
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Neurogenic bladder, Ataxia, Recurrent pneumon...	ORPHA:496641
Sandhoff Disease	Kyphosis, Ataxia	ORPHA:796
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure, Polymicrogyria, Hydrocephalus, Agyria	OMIM:616538
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Frontal bossing, Conical tooth, Abnormality of the dentition, Brachycephaly, Intra...	ORPHA:228390
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Kyphosi...	OMIM:615512
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Respiratory insuffi...	OMIM:135100
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Scoliosis, Hyperlordosis	OMIM:600175
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Abnormal sperm motility, Productive cough, Wheezing, Hydrocephalus...	ORPHA:244
Autosomal Recessive Spastic Paraplegia Type 53	Upper limb hypertonia, Kyphosis, Clonus	ORPHA:319199
Lymphatic Malformation 5	Facial edema, Predominantly lower limb lymphedema, Cleft palate	OMIM:153200
Cdkl5-Deficiency Disorder	Kyphosis, Abnormal respiratory system physiology, Scoliosis	ORPHA:505652
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Respiratory failure	OMIM:619386
Muscular Dystrophy, Duchenne Type	Hypoventilation, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Restrictive ven...	OMIM:310200
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Orbital encephalocele, Agenesis of corpus callosum	OMIM:164180
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Reduced vital capacity, Respiratory failure, Frequent falls, Nocturnal hypoventilation	OMIM:603689
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis	ORPHA:85288
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Scoliosis	OMIM:300434
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Kyphoscoliosis, Tremor, Polyminimyoclonus, Stridor, Fasciculations, Scoliosis, Vocal cord paresis	OMIM:619574
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Thin upper lip vermilion, Short stature, Polyhydramnios, Increased nuchal translucency, Brachycep...	OMIM:618862
Intellectual Disability-Developmental Delay-Contractures Syndrome	Oculomotor apraxia, Kyphosis, Scoliosis	ORPHA:3454
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Immunodeficiency 54	Intrauterine growth retardation, Respiratory failure, Respiratory insufficiency	OMIM:609981
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of...	ORPHA:199306
Hyperkalemic Periodic Paralysis	Death in infancy, Periodic hyperkalemic paralysis, Death in early adulthood, Cerebral palsy, Resp...	ORPHA:682
Thanatophoric Dysplasia	Kyphosis, Hydrocephalus, Respiratory insufficiency, Gray matter heterotopia, Platyspondyly	ORPHA:2655
Neuropathy, Hereditary, With Liability To Pressure Palsies	Vocal cord paralysis	OMIM:162500
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,...	ORPHA:70
Postencephalitic Parkinsonism	Resting tremor, Camptocormia, Involuntary movements, Rigidity, Kyphosis, Babinski sign, Abnormal ...	ORPHA:97349
Craniosynostosis 2	Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supern...	OMIM:604757
Congenital Muscular Dystrophy Without Intellectual Disability	Gray matter heterotopia, Pachygyria, Kyphoscoliosis	ORPHA:370980
Japanese Encephalitis	Hyperintensity of MRI T2 signal of the spinal cord, Respiratory distress, Weakness due to upper m...	ORPHA:79139
Winchester Syndrome	Kyphosis	OMIM:277950
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Spasticity, Scoliosis	ORPHA:2429
3-Methylglutaconic Aciduria Type 7	Pneumothorax, Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Respiratory fai...	ORPHA:445038
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
Pseudo-Torch Syndrome 2	Acute respiratory distress syndrome, Respiratory insufficiency, Gray matter heterotopia, Lateral ...	OMIM:617397
Congenital Myopathy 10B, Mild Variant	Hyperlordosis, Reduced forced vital capacity, Recurrent pneumonia, Respiratory failure, Scoliosis	OMIM:620249
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Ataxia, Respiratory insufficiency, Respiratory f...	OMIM:607625
Thanatophoric Dysplasia, Type I	Neonatal respiratory distress, Hydrocephalus, Gray matter heterotopia, Platyspondyly, Neonatal de...	OMIM:187600
Leber Congenital Amaurosis	Encephalocele, Abnormality of neuronal migration	ORPHA:65
Laryngeal Abductor Paralysis	Stridor, Vocal cord paralysis	OMIM:150260
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Neonatal respiratory distress, Apnea, Abnormality of neuronal migration, Respir...	OMIM:608836
Intermediate Nemaline Myopathy	Respiratory failure	ORPHA:171433
Sialidosis Type 2	Ataxia, Tremor, Dyspnea, Kyphosis, Umbilical hernia	ORPHA:87876
Craniosynostosis 6	Turricephaly, Craniosynostosis, Parietal foramina, Brachycephaly, Plagiocephaly, Right unilambdoi...	OMIM:616602
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Ataxia, Scoliosis	ORPHA:85317
Brachyolmia Type 3	Short neck, Spinal cord compression, Kyphosis, Platyspondyly, Scoliosis	OMIM:113500
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Tented upper lip vermilion, Brachycephaly, Long philtrum	OMIM:619972
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Lumbar hyperlordosis, Hydrocephalus, Gray matter heterotopia, Polymicrog...	ORPHA:370959
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Tremor, Respiratory failure, Fasciculations, Intrauterine growth re...	OMIM:620327
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele, Brachycephaly, Craniosynostosis	OMIM:614416
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Respiratory insufficiency, Abnormal form of the vertebral...	ORPHA:93941
Infant Acute Respiratory Distress Syndrome	Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure, Frequent falls, Ataxia	OMIM:620166
Acute Interstitial Pneumonia	Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure...	ORPHA:79126
Familial Cervical Artery Dissection	Paralysis	ORPHA:36382
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis, Chorea, Abnormal pyramidal sign, Gait ataxia, Abnormality of extrapyramidal motor funct...	ORPHA:500180
Cardiomyopathy, Dilated, 2H	Neonatal death, Tachypnea, Cardiorespiratory arrest	OMIM:620203
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Restrictive ventilatory...	OMIM:607155
Sjögren-Larsson Syndrome	Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Scoliosis, Spasticity	ORPHA:816
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level	ORPHA:70578
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Co...	OMIM:615219
Walker-Warburg Syndrome	Abnormal cortical gyration, Hydrocephalus, Abnormality of neuronal migration, Macrogyria, Lissenc...	ORPHA:899
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Vocal cord paralysis, Upper airway obstruction, Stridor, Cough	ORPHA:142
Poliomyelitis	Respiratory failure requiring assisted ventilation, Paralysis, Paraparesis, Respiratory failure, ...	ORPHA:2912
Intellectual Developmental Disorder, Autosomal Dominant 26	Cerebral palsy, Kyphosis, Hypertonia, Scoliosis, Umbilical hernia, Intrauterine growth retardation	OMIM:615834
Joubert Syndrome With Oculorenal Defect	Encephalocele, Apnea, Hydrocephalus, Tachypnea, Abnormality of neuronal migration, Scoliosis	ORPHA:2318
Myopathy, Centronuclear, 2	Hyperlordosis, Respiratory insufficiency due to muscle weakness, Kyphosis, Scoliosis, Intrauterin...	OMIM:255200
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Scoliosis	ORPHA:276630
Borjeson-Forssman-Lehmann Syndrome	Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis	OMIM:301900
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Babinski sign, Myoclonus, Apraxia, Abnormal upper motor neuron morphology, Spasticity	OMIM:221770
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Intrauterine growth retardation, Respiratory failure, Death in infancy	ORPHA:1194
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Enlarged Parietal Foramina	Occipital encephalocele, Craniosynostosis, Parietal foramina, Cleft lip, Myelomeningocele, Cleft ...	ORPHA:60015
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Incoordination, Ataxia, Involuntary movement...	ORPHA:209905
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Spinal rigidity, Kyphosis, Dyspnea, Respiratory insufficiency	OMIM:615084
Hemimegalencephaly	Gray matter heterotopia, Pachygyria, Polymicrogyria	ORPHA:99802
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Ataxia, Scoliosis	OMIM:300861
Monosomy 18P	Short stature, Lymphedema, Carious teeth, Brachycephaly, Cleft palate, Downturned corners of mout...	ORPHA:1598
Oculopharyngodistal Myopathy	Respiratory insufficiency due to muscle weakness, Paraplegia, Restrictive ventilatory defect, Voc...	ORPHA:98897
Hall-Riggs Syndrome	Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intrauterine growth retardation	OMIM:234250
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis	OMIM:620296
Inhalational Botulism	Dyspnea, Paralysis	ORPHA:254504
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Spastic Paraplegia 9A, Autosomal Dominant	Lower limb spasticity, Resting tremor, Babinski sign, Hoffmann sign, Spastic paraplegia, Gait ata...	OMIM:601162
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Truncal ataxia, R...	OMIM:220110
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
Hypomelanosis Of Ito	Gray matter heterotopia, Kyphosis, Scoliosis	OMIM:300337
Mercury Poisoning	Respiratory distress, Tremor, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Autism Spectrum Disorder Due To Auts2 Deficiency	Cerebral palsy, Kyphosis, Hypertonia, Scoliosis, Umbilical hernia, Spasticity	ORPHA:352490
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopic anus	ORPHA:2476
Idiopathic Pulmonary Hemosiderosis	Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough	ORPHA:99931
Craniofacial Dyssynostosis With Short Stature	Frontal bossing, Short stature, Pyloric stenosis, Brachycephaly, Abnormal shape of the occiput, B...	OMIM:218350
Scedosporiosis	Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory...	ORPHA:449280
Sandestig-Stefanova Syndrome	Intrauterine growth retardation, Respiratory failure, Short neck	OMIM:618804
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Aniridia	OMIM:602361
Mucopolysaccharidosis, Type Iva	Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ...	OMIM:253000
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ...	OMIM:606070
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Lower limb spasticity, Ataxia, Kyphosis, Fasciculations, Scoliosis, Spasticity, Progressive spast...	ORPHA:464282
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response, Kyphosis, Babinski sign, Spastic paraplegia, Ankle clonus, Scoliosis	OMIM:609541
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Tracheomalacia, Vocal cord paralysis, Respiratory insufficiency	OMIM:615490
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Neurogenic bladder, Vocal cord paralysis, Myoclonus, Scoliosis, Spasticity	ORPHA:500144
Unilateral Ocular Duplication	Encephalocele, Frontal bossing, Median cleft lip, Polyhydramnios, Cleft palate, Dolichocephaly	ORPHA:3374
Carnitine Palmitoyltransferase Ii Deficiency	Neonatal respiratory distress, Hydrocephalus, Abnormality of neuronal migration, Pachygyria, Agen...	ORPHA:157
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly	ORPHA:2786
Hemifacial Atrophy, Progressive	Kyphosis, Ataxia	OMIM:141300
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Respiratory insufficiency due to...	ORPHA:98863
Scapuloperoneal Spinal Muscular Atrophy	Torticollis, Hyperlordosis, Kyphosis, Respiratory insufficiency, Stridor, Scoliosis	OMIM:181405
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hemiplegia, Umbilical hernia, Kyphosis, Scoliosis	ORPHA:2181
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Bruck Syndrome	Kyphosis, Platyspondyly, Respiratory insufficiency, Scoliosis	ORPHA:2771
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphosis, Kyphoscoliosis, Scoliosis, Restrictive ventilatory defect	OMIM:618484
Multiple Acyl-Coa Dehydrogenase Deficiency	Hyperlordosis, Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defect, Respiratory fai...	ORPHA:26791
Hypomandibular Faciocranial Dysostosis	Aplasia/Hypoplasia of the tongue, Craniosynostosis, Polyhydramnios, Narrow mouth, Brachycephaly, ...	ORPHA:1790
Autosomal Recessive Ataxia, Beauce Type	Lower limb spasticity, Ataxia, Kyphosis, Babinski sign, Dysmetria, Clumsiness, Ankle clonus, Fasc...	ORPHA:88644
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Vocal cord paresis, Scoliosis, Gait ataxia	OMIM:614895
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Kyphosis, Ataxia, Scoliosis	OMIM:618124
Congenital Myopathy 15	Reduced forced vital capacity, Vocal cord paralysis	OMIM:620161
Wieacker-Wolff Syndrome	Neonatal respiratory distress, Apnea, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Apraxia, Oc...	OMIM:314580
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Short neck, Kyphosis, Meningocele, Abnormal form of the ...	ORPHA:2311
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis	OMIM:618392
Infantile Krabbe Disease	Respiratory distress, Lower limb spasticity, Spastic diplegia, Opisthotonus, Ankle clonus, Respir...	ORPHA:206436
Holzgreve Syndrome	Turricephaly, Aplasia/Hypoplasia of the tongue, Cleft palate, Intrauterine growth retardation, Bi...	ORPHA:2167
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Hyperlordosis, Tremor, Kyphosis, Babinski sign, Blepharospasm, Hypertonia, Scoliosis	OMIM:128100
Arthrogryposis, Distal, Type 5	Reduced forced expiratory volume in one second, Kyphosis, Restrictive ventilatory defect, Hyperto...	OMIM:108145
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb spasticity, Respiratory failure, Ataxia, Titubation	ORPHA:280210
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Rett Syndrome	Apnea, Intermittent hyperventilation, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ata...	OMIM:312750
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Hyperlordosis, Respiratory insufficiency, Pulmonary arterial hypertension, Respi...	ORPHA:258
Glioblastoma	Paralysis	ORPHA:360
Pelizaeus-Merzbacher Disease	Ataxia, Kyphosis, Respiratory insufficiency, Choreoathetosis, Scoliosis, Spasticity	ORPHA:702
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Aica-Ribosiduria	Wide mouth, Thin upper lip vermilion, Brachycephaly	ORPHA:250977
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Scoliosis	ORPHA:2598
Hip Dysplasia, Beukes Type	Kyphosis, Scoliosis	ORPHA:2114
Desmosterolosis	Abnormal cortical gyration, Hydrocephalus, Abnormality of neuronal migration, Macrogyria, Lissenc...	ORPHA:35107
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Scoliosis	OMIM:112350
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis	ORPHA:1875
Thanatophoric Dysplasia Type 1	Kyphosis, Hydrocephalus, Respiratory insufficiency, Gray matter heterotopia, Platyspondyly	ORPHA:1860
Pontocerebellar Hypoplasia, Type 17	Kyphosis, Spastic tetraplegia, Respiratory insufficiency, Intrauterine growth retardation, Limb h...	OMIM:619909
Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Respiratory insufficiency due to muscle weak...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Respiratory insufficiency due to muscle weak...	ORPHA:98853
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Thoracic scoliosis, Respiratory failure, Chylothorax, Dea...	OMIM:620278
Acrofrontofacionasal Dysostosis	Short stature, Non-midline cleft lip, Brachycephaly, Cleft palate, Everted lower lip vermilion, H...	ORPHA:1784
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the...	OMIM:183900
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Clonus, Tremor, Hypopnea, Respiratory failure, Hypertonia, Neonatal deat...	OMIM:617248
Osteogenesis Imperfecta, Type Xx	Tented upper lip vermilion, Brachycephaly, Narrow palate, Agenesis of permanent teeth, Plagioceph...	OMIM:618644
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Scoliosis	ORPHA:1548
Congenital Multicore Myopathy With External Ophthalmoplegia	Abnormal respiratory system physiology, Respiratory failure, Pneumonia, Scoliosis	ORPHA:98905
Radio-Renal Syndrome	Respiratory distress, Short neck, Dyspnea, Abnormal form of the vertebral bodies, Respiratory fai...	ORPHA:3015
Ck Syndrome	Kyphosis, Scoliosis, Hyperlordosis	OMIM:300831
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Frontal bossing, Flat occiput, Severe short stature, High, narrow pala...	ORPHA:2780
Microcephalic Primordial Dwarfism, Montreal Type	Kyphosis, Vertebral segmentation defect, Hypertonia, Scoliosis	ORPHA:2617
Arnold-Chiari Malformation Type I	Myelopathy, Babinski sign, Vocal cord paralysis, Gait ataxia, Fused cervical vertebrae, Progressi...	ORPHA:268882
Pheochromocytoma/Paraganglioma Syndrome 2	Vocal cord paralysis	OMIM:601650
Peripartum Cardiomyopathy	Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial...	ORPHA:563
Tetrasomy 18P	Abnormality of neuronal migration, Scoliosis	ORPHA:3307
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Apnea, Clonus, Respiratory failure, Hypertonia	OMIM:617301
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hyperlordosis, Spinal cord compression, Kyphosis, Short neck, Fused cervical vertebrae	ORPHA:2522
O'Donnell-Luria-Rodan Syndrome	Kyphosis	OMIM:618512
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g...	OMIM:265300
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Spinal rigidity, Respiratory insufficiency due to muscle weakness, Kyphosis, Respira...	OMIM:254090
3C Syndrome	Death in infancy, Kyphosis, Hydrocephalus, Hemivertebrae, Abnormality of neuronal migration, Scol...	ORPHA:7
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios...	ORPHA:2635
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Ataxia, Tremor, Dyspnea, Respiratory insufficiency, Respiratory failure, Death ...	OMIM:610505
Neurocutaneous Melanocytosis	Death in infancy, Meningocele, Abnormality of neuronal migration	ORPHA:2481
Charcot-Marie-Tooth Disease Type 4B2	Reduced vital capacity, Kyphoscoliosis, Tremor, Vocal cord paralysis, Respiratory insufficiency, ...	ORPHA:99956
Spondyloepiphyseal Dysplasia Congenita	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph...	ORPHA:94068
Brain Small Vessel Disease 2	Subcortical heterotopia, Polymicrogyria	OMIM:614483
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Pachygyria, Abnormality of neuronal migration	OMIM:608840
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis, Neonatal inspiratory stridor	ORPHA:684
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Respiratory failure, Paroxysmal dyspnea	ORPHA:444013
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis	OMIM:613239
Leigh Syndrome	Ataxia, Involuntary movements, Chorea, Spastic diplegia, Choreoathetosis, Athetosis, Respiratory ...	ORPHA:506
Cdags Syndrome	Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Rectourethral fistula, Brachycepha...	OMIM:603116
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Joubert Syndrome 30	Gray matter heterotopia, Tachypnea, Apnea	OMIM:617622
Baralle-Macken Syndrome	Kyphosis, Spasticity	OMIM:619255
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Kyphosis, Apnea, Scoliosis	OMIM:619797
Nephronophthisis 2	Respiratory failure, Respiratory insufficiency	OMIM:602088
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Respiratory failure	OMIM:614862
Diastrophic Dysplasia	Kyphosis, Abnormal form of the vertebral bodies, Respiratory insufficiency, Scoliosis, Intrauteri...	ORPHA:628
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis	OMIM:612300
Zimmermann-Laband Syndrome 3	Kyphosis	OMIM:618658
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i...	OMIM:313400
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Periventricular heterotopia, Kyphosis, Hydrocephalus, Platyspondyly, Ag...	OMIM:618476
Pyruvate Dehydrogenase E1-Beta Deficiency	Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia	ORPHA:255138
Intellectual Developmental Disorder, Autosomal Dominant 23	Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis	OMIM:615761
Subaortic Stenosis-Short Stature Syndrome	Kyphosis, Respiratory insufficiency, Scoliosis, Short neck	ORPHA:3191
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Neonatal respiratory distress, Hydrocephalus, Abnormality of neuronal migration, Pachygyria, Agen...	ORPHA:228308
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Colpocephaly, Hydrocephalus, Scoliosis, Periventricular heterotopia	OMIM:619833
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Scoliosis	ORPHA:1858
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Scoliosis	OMIM:618234
4Q21 Microdeletion Syndrome	Short neck, Tremor, Kyphosis, Scoliosis, Intrauterine growth retardation	ORPHA:238750
Mucolipidosis Iii Gamma	Hyperlordosis, Kyphosis, Scoliosis, Short neck	OMIM:252605
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Ataxia, Pneumonia, Hypercapnia, Dyspnea, Babi...	ORPHA:79138
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip	OMIM:179400
Marinesco-Sjogren Syndrome	Ataxia, Kyphosis, Limb ataxia, Gait ataxia, Scoliosis, Spasticity	OMIM:248800
Myasthenic Syndrome, Congenital, 20, Presynaptic	Hypoventilation, Apnea, Kyphosis, Stridor, Scoliosis	OMIM:617143
Periventricular Nodular Heterotopia 1	Gray matter heterotopia, Abnormality of neuronal migration	OMIM:300049
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system, Chorioretinal ...	OMIM:120200
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Respiratory failure, Spastic tetraplegia	ORPHA:3240
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Abnormal cortical gyration, Exencephaly, Abnormality of neuronal migration, Macrog...	ORPHA:2211
Mucopolysaccharidosis, Type Ivb	Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Cerv...	OMIM:253010
Vici Syndrome	Gray matter heterotopia, Death in infancy, Agenesis of corpus callosum	ORPHA:1493
Porphyria, Acute Intermittent	Respiratory paralysis, Paralysis	OMIM:176000
Vocal Cord And Pharyngeal Distal Myopathy	Respiratory insufficiency due to muscle weakness, Aspiration, Amyotrophic lateral sclerosis, Voca...	ORPHA:600
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure	OMIM:617895
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Truncal titubation, Kyphosis, Abnormal spinal cord morphology, Gait ataxia, Scoliosis	ORPHA:88628
Sialidosis Type 1	Ataxia, Tremor, Kyphosis, Slurred speech, Abnormal form of the vertebral bodies, Myoclonus, Scoli...	ORPHA:812
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency	OMIM:613845
Gm1-Gangliosidosis, Type I	Death in infancy, Short neck, Kyphosis, Hypoplastic vertebral bodies, Hypertonia, Scoliosis, Intr...	OMIM:230500
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Thin upper lip vermilion, Thick lower lip vermilion, Cranial asymmetry, Long philtrum	ORPHA:137634
Lethal Congenital Contracture Syndrome 2	Respiratory failure	OMIM:607598
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Apnea, Hydrocephalus, Abnormality of neuronal migration, Scoliosis, Abno...	ORPHA:1454
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure	ORPHA:542323
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Cleft palate, Plagiocephaly, Gr...	OMIM:614749
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Scoliosis	OMIM:259440
Faciocardiorenal Syndrome	Cleft palate, Plagiocephaly, Hypodontia, Narrow mouth, Smooth philtrum	ORPHA:1973
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Periodic paralysis	OMIM:188580
Periventricular Nodular Heterotopia 7	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:617201
Typical Nemaline Myopathy	Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Respiratory insufficiency, Scoliosis, Noctu...	ORPHA:171436
Rift Valley Fever	Back pain, Miscarriage, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity	ORPHA:319251
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Lateral ventricle dilatation, Periventricular heterotopia	OMIM:614105
Lymphatic Malformation 6	Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lym...	OMIM:616843
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2707
Crouzon Syndrome	Frontal bossing, Dental crowding, Sagittal craniosynostosis, Brachycephaly, High palate, Lambdoid...	OMIM:123500
Riddle Syndrome	Ataxia, Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Clumsiness, Restrictive ventilatory de...	ORPHA:420741
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Vocal cord paresis, Abnormality of the vertebral column, Frequent falls	ORPHA:101097
Mitochondrial Trifunctional Protein Deficiency	Respiratory failure, Babinski sign, Frequent falls, Respiratory insufficiency	ORPHA:746
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Congenital Fiber-Type Disproportion Myopathy	Kyphoscoliosis, Hyperlordosis, Hypercapnia, Respiratory insufficiency due to muscle weakness, Hyp...	ORPHA:2020
Osteopetrosis, Autosomal Recessive 5	Respiratory failure, Stillbirth, Hydrocephalus	OMIM:259720
Tick-Borne Encephalitis	Back pain, Speech apraxia, Incoordination, Paralysis, Tremor, Hyperkinetic movements, Tongue fasc...	ORPHA:297
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T...	ORPHA:93360
Congenital Myopathy 22A, Classic	Thoracic scoliosis, Spinal rigidity, Kyphosis, Respiratory insufficiency, Scoliosis, Neonatal dea...	OMIM:620351
16P13.11 Microdeletion Syndrome	Agenesis of corpus callosum, Holoprosencephaly, Abnormality of neuronal migration	ORPHA:261236
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Frontal bossing, Abnormal dental morphology, Abnormal dental enamel morphology, Parietal foramina...	ORPHA:85199
Deafness-Lymphedema-Leukemia Syndrome	Respiratory failure	ORPHA:3226
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Tachypnea, Hypoxemia, Respiratory failure, In...	ORPHA:555874
Basilar Impression, Primary	Syringomyelia, Abnormal cervical myelogram, Kyphoscoliosis, Short neck	OMIM:109500
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hypoventilation, Ataxia, Paralysis, Hypertonia, Myoclonus, Scoliosis, Tetraparesis, Tracheomalacia	OMIM:203700
Cerebrooculonasal Syndrome	Encephalocele, Frontal bossing, Craniosynostosis, Proboscis, Postnatal growth retardation, Brachy...	OMIM:605627
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Scoliosis, Periodic paralysis	ORPHA:37553
Holoprosencephaly 14	Alobar holoprosencephaly, Aqueductal stenosis, Periventricular heterotopia, Hydrocephalus, Partia...	OMIM:619895
Neu-Laxova Syndrome	Abnormal cortical gyration, Spina bifida, Abnormality of neuronal migration, Macrogyria, Lissence...	ORPHA:2671
Galloway-Mowat Syndrome	Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration	ORPHA:2065
Mcdonough Syndrome	Kyphosis, Scoliosis	ORPHA:2471
Lateral Meningocele Syndrome	Vertebral fusion, Neurogenic bladder, Tethered cord, Short neck, Kyphosis, Meningocele, Dural ect...	OMIM:130720
Pulmonary Alveolar Microlithiasis	Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B...	ORPHA:60025
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Kyphosis, Scoliosis	OMIM:130060
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	ORPHA:308552
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Neonatal respiratory distress, Hyperlordosis, Periventricular heterotopia, Coronal cleft vertebra...	OMIM:618870
Bruck Syndrome 1	Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging	OMIM:259450
Flynn-Aird Syndrome	Kyphosis, Ataxia, Scoliosis	ORPHA:2047
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration	ORPHA:2772
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Respiratory insufficiency, Spasticity	OMIM:618329
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Paralysis	ORPHA:83601
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Apnea, Ataxia, Dyspnea, Respiratory failure, Oculomotor a...	OMIM:615636
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Tethered cord, Spinal dysraphism, Unilateral vocal cord paresis, Butterfly...	OMIM:617660
Boutonneuse Fever	Respiratory failure	ORPHA:83313
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Vocal cord paresis, Lumbar hyperlordosis, Scoliosis	OMIM:601152
Aicardi Syndrome	Block vertebrae, Spina bifida, Partial agenesis of the corpus callosum, Recurrent pneumonia, Hemi...	OMIM:304050
Radio-Tartaglia Syndrome	Gray matter heterotopia, Agenesis of corpus callosum, Scoliosis	OMIM:619312
Becker Nevus Syndrome	Kyphosis, Spina bifida occulta, Scoliosis	ORPHA:64755
Charcot-Marie-Tooth Disease Type 4C	Neuropathic spinal arthropathy, Hypoventilation, Respiratory insufficiency, Gait ataxia, Tongue f...	ORPHA:99949
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Simplified gyral pattern, Periventricular heterotopia	OMIM:618273
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Umbilical hernia, Sacral dimple, Kyphosis	OMIM:618272
Cerebrocostomandibular Syndrome	Death in infancy, Neonatal respiratory distress, Spina bifida, Tracheomalacia, Kyphosis, Myelomen...	ORPHA:1393
Frank-Ter Haar Syndrome	Umbilical hernia, Beaking of vertebral bodies, Kyphosis, Scoliosis	ORPHA:137834
Zimmermann-Laband Syndrome 2	Kyphosis, Short neck	OMIM:616455
Encephalocraniocutaneous Lipomatosis	Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Pulmonary arterial hyperte...	ORPHA:2396
Alkuraya-Kucinskas Syndrome	Gray matter heterotopia, Pleural effusion, Lissencephaly, Hydrocephalus	OMIM:617822
Fragile X Syndrome	Scoliosis, Periventricular heterotopia	OMIM:300624
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory failure, Respiratory insufficiency	OMIM:609015
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Scoliosis	OMIM:300676
Achondroplasia	Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Hypoxemia, Restrictive ventilatory defect,...	ORPHA:15
Lateral Meningocele Syndrome	Hyperlordosis, Short neck, Kyphosis, Meningocele, Abnormal form of the vertebral bodies, Dural ec...	ORPHA:2789
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o...	ORPHA:93314
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus	OMIM:219730
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia	OMIM:619694
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
Myopathic Ehlers-Danlos Syndrome	Kyphosis, Kyphoscoliosis, Scoliosis, Hyperlordosis	ORPHA:536516
Developmental Malformations-Deafness-Dystonia Syndrome	Kyphosis, Death in early adulthood, Scoliosis	ORPHA:79107
Desbuquois Dysplasia 1	Neonatal respiratory distress, Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis, Int...	OMIM:251450
Holoprosencephaly 7	Frontal bossing, Bilateral cleft palate, Flat occiput, Median cleft lip, Bilateral cleft lip, Cra...	OMIM:610828
Niemann-Pick Disease Type C	Speech apraxia, Lower limb spasticity, Ataxia, Tremor, Chorea, Abnormal pyramidal sign, Respirato...	ORPHA:646
Severe Congenital Nemaline Myopathy	Respiratory failure	ORPHA:171430
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Apnea, Ataxia, Babinski sign, Respiratory insufficiency, Respiratory failure, T...	OMIM:252010
Craniosynostosis And Dental Anomalies	Delayed eruption of teeth, Frontal bossing, Turricephaly, Flat occiput, Dental crowding, Short st...	OMIM:614188
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria	OMIM:619775
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Kyphosis, Hyperlordosis	ORPHA:3085
Periventricular Nodular Heterotopia	Scoliosis, Periventricular heterotopia	ORPHA:98892
Listeriosis	Back pain, Respiratory distress, Miscarriage, Pneumonia, Ataxia, Tremor, Hemiparesis, Respiratory...	ORPHA:533
Abetalipoproteinemia	Ataxia, Kyphoscoliosis, Babinski sign, Dysmetria, Gait ataxia, Respiratory failure, Upper motor n...	ORPHA:14
Jaberi-Elahi Syndrome	Appendicular spasticity, Tremor, Kyphosis, Dysmetria, Gait ataxia, Choreoathetosis, Scoliosis	OMIM:617988
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyr...	OMIM:614298
Cockayne Syndrome Type 2	Lower limb spasticity, Ataxia, Kyphosis, Scoliosis, Intrauterine growth retardation, Limb hypertonia	ORPHA:90322
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Difference Of Sex Development-Intellectual Disability Syndrome	Kyphosis, Spina bifida occulta, Short neck	ORPHA:2983
6Q Terminal Deletion Syndrome	Periventricular heterotopia, Abnormality of neuronal migration, Gray matter heterotopia, Colpocep...	ORPHA:75857
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration, Scoliosis	ORPHA:2518
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Tremor, Kyphosis, Gait ataxia	OMIM:300354
Pseudoachondroplasia	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Cer...	OMIM:177170
Arthrogryposis, Distal, Type 4	Kyphosis, Torticollis, Lumbar scoliosis, Scoliosis	OMIM:609128
Alpha-Mannosidosis	Kyphosis, Scoliosis, Short neck	ORPHA:61
Thyrotoxic Periodic Paralysis	Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis	ORPHA:79102
16Q24.3 Microdeletion Syndrome	Kyphosis, Colpocephaly, Scoliosis, Periventricular heterotopia	ORPHA:261250
Arterial Tortuosity Syndrome	Respiratory distress, Dyspnea, Cardiorespiratory arrest, Respiratory failure, Scoliosis	ORPHA:3342
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Hyperlordosis, Respiratory insufficiency due to muscle weakness,...	ORPHA:365
Smith-Mccort Dysplasia 1	Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly...	OMIM:607326
Wieacker-Wolff Syndrome, Female-Restricted	Short neck, Kyphosis, Scoliosis, Oculomotor apraxia, Spasticity	OMIM:301041
Achard Syndrome	Broad skull, Brachycephaly	OMIM:100700
Rhizomelic Syndrome, Urbach Type	Kyphosis, Abnormal form of the vertebral bodies, Short neck	ORPHA:3098
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Aspiration, Agenesis of corpus callosum, Periventricular heterotopia	OMIM:618733
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Tachypnea, Respiratory insufficiency, Tetraplegia, Respiratory failure, Myoclonus, Death in child...	OMIM:618278
Alexander Disease	Ataxia, Clonus, Hyperlordosis, Short neck, Kyphosis, Tremor, Chorea, Abnormal pyramidal sign, Res...	ORPHA:58
Fountain Syndrome	Spina bifida, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta	ORPHA:3219
Srd5A3-Cdg	Kyphosis, Abnormal sacrum morphology, Ataxia	ORPHA:324737
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Apnea, Rigidity, Kyphosis, Babinski sign, Abnormal pyramidal sign, ...	OMIM:617527
Mirage Syndrome	Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia	OMIM:617053
Andersen Cardiodysrhythmic Periodic Paralysis	Periodic hypokalemic paresis, Scoliosis, Periodic paralysis	OMIM:170390
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Paralysis, Oculomotor apraxia, Spastic paraplegia, Limb ataxia,...	ORPHA:2072
Gm1 Gangliosidosis	Ataxia, Hyperlordosis, Tremor, Kyphosis, Abnormal form of the vertebral bodies, Platyspondyly, Ab...	ORPHA:354
Rett Syndrome, Congenital Variant	Kyphosis, Chorea, Athetosis, Scoliosis, Apraxia, Aspiration, Spasticity	OMIM:613454
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia, Vertebral segmentation defect, Scoliosis	ORPHA:531151
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis	OMIM:618138
Intellectual Developmental Disorder, X-Linked 12	Abnormality of neuronal migration	OMIM:300957
Non-Functioning Paraganglioma	Tremor, Vocal cord paralysis	ORPHA:94080
Ruvalcaba Syndrome	Kyphosis, Scoliosis	OMIM:180870
Van Maldergem Syndrome 1	Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Scoliosis, Trach...	OMIM:601390
Uruguay Faciocardiomusculoskeletal Syndrome	Kyphosis, Kyphoscoliosis, Scoliosis	OMIM:300280
Myofibrillar Myopathy 10	Kyphosis	OMIM:619040
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Umbilical hernia, Respiratory failure, Large placenta, Intrauterine growth retardation	ORPHA:254528
Weismann-Netter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Clark-Baraitser syndrome	Kyphosis, Scoliosis	OMIM:300602
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure	ORPHA:88618
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Mucopolysaccharidosis, Type Ii	Short neck, Kyphosis, Asthma, Recurrent pneumonia, Cervical cord compression, Umbilical hernia, T...	OMIM:309900
Coffin-Lowry Syndrome	Death in early adulthood, Kyphosis, Abnormality of neuronal migration, Abnormal form of the verte...	ORPHA:192
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Kyphosis, Scoliosis	ORPHA:1883
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Patent urachus, Death in childhood	OMIM:618252
Osteogenesis Imperfecta, Type Iii	Kyphosis, Biconcave vertebral bodies, Pulmonary arterial hypertension, Scoliosis	OMIM:259420
Poretti-Boltshauser Syndrome	Gray matter heterotopia	OMIM:615960
Cerebrofacioarticular Syndrome	Tracheomalacia, Dysplastic corpus callosum, Agenesis of corpus callosum, Gray matter heterotopia	ORPHA:314679
Autosomal Recessive Spastic Paraplegia Type 35	Lower limb spasticity, Spastic tetraparesis, Kyphosis, Babinski sign, Spastic paraplegia, Dysmetr...	ORPHA:171629
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis	OMIM:615433
Li-Ghorbani-Weisz-Hubshman Syndrome	Periventricular heterotopia	OMIM:618974
Lethal Acantholytic Erosive Disorder	Intrauterine growth retardation, Respiratory failure	ORPHA:158687
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Vocal cord paralysis	ORPHA:397744
X-Linked Intellectual Disability Due To Gria3 Mutations	Kyphosis, Babinski sign, Myoclonus, Scoliosis, Spasticity	ORPHA:364028
Genitourinary And/Or Brain Malformation Syndrome	Kyphoscoliosis, Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Holoprosenceph...	OMIM:618820
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver...	ORPHA:2916
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Death in infancy, Lateral ventricle dilatation, Respiratory failure	OMIM:300868
Myhre Syndrome	Vertebral fusion, Ataxia, Short neck, Respiratory insufficiency, Enlarged vertebral pedicles, Pla...	OMIM:139210
Branchioskeletogenital Syndrome	Unilateral cleft palate, Craniosynostosis, Abnormality of the dentition, Carious teeth, Submucous...	ORPHA:1299
Shashi-Pena Syndrome	Kyphosis, Limb hypertonia, Scoliosis, Cervical C2/C3 vertebral fusion, Intrauterine growth retard...	OMIM:617190
Ruvalcaba Syndrome	Intrauterine growth retardation, Kyphosis, Scoliosis, Abnormal vertebral epiphysis morphology	ORPHA:3121
Acromelic Frontonasal Dysostosis	Encephalocele, Upper airway obstruction, Gray matter heterotopia, Periventricular nodular heterot...	OMIM:603671
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Scoliosis, Spasticity	OMIM:618443
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Apnea, Rigidity, Kyphosis, Respiratory insufficiency, Progressive s...	ORPHA:521426
Pelger-Huet Anomaly	Umbilical hernia, Lower limb hypertonia, Kyphosis	OMIM:169400
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Abnormal cortical gyration, Partial agenesis of the corpus callosum, Hydrocepha...	OMIM:210710
Geleophysic Dysplasia 3	Dyspnea, Respiratory failure, Pneumonia	OMIM:617809
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Tracheomalacia, Gray matter heterotopia, Neonatal respiratory distress	OMIM:618797
Bohring-Opitz Syndrome	Gray matter heterotopia, Neonatal respiratory distress, Agenesis of corpus callosum	OMIM:605039
Peroxisome Biogenesis Disorder 13A (Zellweger)	Neonatal death, Gray matter heterotopia, Polymicrogyria	OMIM:614887
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Agenesis of corpus callosum, Periventricular heterotopia	OMIM:618929
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate	ORPHA:2736
Holoprosencephaly	Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Respiratory insufficiency, Spina...	ORPHA:2162
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p...	ORPHA:508533
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoid process, Kyp...	OMIM:253220
Fucosidosis	Kyphosis, Abnormal pyramidal sign, Spastic tetraplegia, Anterior beaking of lumbar vertebrae, Spa...	ORPHA:349
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis	ORPHA:98855
Stickler Syndrome, Type I	Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist...	OMIM:108300
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Short neck, Rigidity, Dys...	ORPHA:2636
Trisomy 9P	Kyphosis, Sacral dimple, Scoliosis, Short neck	ORPHA:236
Emanuel Syndrome	Sacral dimple, Torticollis, Kyphosis, Scoliosis, Recurrent sinusitis, Intrauterine growth retarda...	OMIM:609029
Rajab Interstitial Lung Disease With Brain Calcifications 1	Tachypnea, Respiratory insufficiency, Respiratory failure, Scoliosis, Cough, Intrauterine growth ...	OMIM:613658
Trisomy 20P	Incoordination, Spina bifida, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Verteb...	ORPHA:261318
Pycnodysostosis	Hyperlordosis, Kyphosis, Stridor, Spondylolysis, Scoliosis, Intrauterine growth retardation, Uppe...	ORPHA:763
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly, Gray matter het...	OMIM:615287
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology	OMIM:615709
3M Syndrome	Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis, Intrauterine growth r...	ORPHA:2616
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Miscarriage, Kyphoscoliosis, Hemivertebrae, Spinal dysraphism, Restrictive ventilatory defect, Re...	ORPHA:96334
Pearson Syndrome	Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Splenomegaly,...	ORPHA:699
Schaaf-Yang Syndrome	Kyphosis, Scoliosis	OMIM:615547
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Dysplastic corpus callosum, Hemivertebrae, Simplified gyral...	ORPHA:500150
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Abnormality of extrapyramidal motor function, Parkinsonis...	ORPHA:100070
Hemorrhagic Fever-Renal Syndrome	Back pain, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleur...	ORPHA:340
Hurler-Scheie Syndrome	Umbilical hernia, Kyphosis, Pulmonary arterial hypertension, Scoliosis	OMIM:607015
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Partial agenesis of the corpus callosum, Lumbar hyperlordosis, Hydroceph...	OMIM:305450
Congenital Disorder Of Glycosylation, Type Il	Kyphosis, Short neck	OMIM:608776
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Dyspnea, Hydrocephalus, Respiratory failure, Agenesis of corpus callosum	ORPHA:2556
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Short neck, Kyphosis, Respiratory insufficiency, Scoliosis, T...	ORPHA:140
Marshall-Smith Syndrome	Thoracic scoliosis, Apnea, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Stridor,...	OMIM:602535
15Q24 Microdeletion Syndrome	Kyphosis, Myelomeningocele, Scoliosis	ORPHA:94065
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl...	ORPHA:31204
Urban-Rogers-Meyer Syndrome	Kyphosis, Short neck	ORPHA:3409
Basel-Vanagaite-Smirin-Yosef Syndrome	Kyphosis, Recurrent pneumonia, Scoliosis, Pulmonary arterial hypertension, Spasticity	OMIM:616449
Mucopolysaccharidosis Type 4	Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis	ORPHA:582
Gitelman Syndrome	Ataxia, Paralysis	OMIM:263800
Bloom Syndrome	Pneumonia, Chronic pulmonary obstruction, Respiratory failure, Rhinitis, Intrauterine growth reta...	ORPHA:125
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of...	ORPHA:2062
Trisomy 13	Intrauterine growth retardation, Kyphosis, Scoliosis	ORPHA:3378
Cole-Carpenter Syndrome	Intrauterine growth retardation, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2050
Alg11-Cdg	Gray matter heterotopia, Scoliosis	ORPHA:280071
Malignant Atrophic Papulosis	Pleural effusion, Respiratory failure	ORPHA:679
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sacral dimple, Ataxia, Short neck, Tremor, Kyphosis, Prominent protruding coccyx, Spastic diplegi...	OMIM:300966
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Vertebral segmentation defect, Holoprosencephaly, Abnormality of neuronal migration	ORPHA:3186
Peroxisome Biogenesis Disorder 12A (Zellweger)	Growth delay, Scaphocephaly, Cranial asymmetry, Short stature	OMIM:614886
Harrod Syndrome	Intrauterine growth retardation, Kyphosis, Scoliosis	ORPHA:2115
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Tremor, Kyphosis, Scoliosis	OMIM:617061
Intellectual Developmental Disorder, Autosomal Dominant 54	Lower limb spasticity, Apnea, Ataxia, Vocal cord paralysis, Hyperkinetic movements, Athetoid cere...	OMIM:617799
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Kyphosis, Short neck	ORPHA:3082
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Periventricular heterotopia, Simplified gyral pattern, Lobar holoprosencephaly, Lissencephaly, Pa...	ORPHA:468631
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Abnormal spinal cord morphology, Spinal canal stenosis, Fused cervica...	ORPHA:1724
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Head titubation, Kyphosis, Interstitial emphysema, Bronchiectasis, Dysmetria, Intention t...	OMIM:619708
19P13.12 Microdeletion Syndrome	Intrauterine growth retardation, Kyphosis, Scoliosis, Short neck	ORPHA:254346
Otopalatodigital Syndrome, Type Ii	Kyphoscoliosis, Spina bifida, Short neck, Respiratory insufficiency, Platyspondyly, Respiratory f...	OMIM:304120
Pheochromocytoma/Paraganglioma Syndrome 3	Vocal cord paralysis	OMIM:605373
Distal Renal Tubular Acidosis	Respiratory insufficiency due to muscle weakness, Paralysis	ORPHA:18
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Intrauterine growth retardation, Vertebral segmentation defect, Kyphosis, Scoliosis	ORPHA:1005
African Trypanosomiasis	Abnormal central motor function, Miscarriage, Involuntary movements, Paralysis, Tremor, Myelopath...	ORPHA:3385
Cono-Spondylar Dysplasia	Kyphosis, Poor coordination, Scoliosis, Short neck	ORPHA:420794
Acro-Renal-Mandibular Syndrome	Short neck, Kyphosis, Hemivertebrae, Scoliosis, Intrauterine growth retardation, Butterfly vertebrae	ORPHA:958
Micro Syndrome	Intrauterine growth retardation, Spasticity, Kyphosis, Scoliosis	ORPHA:2510
Marfanoid Habitus With Situs Inversus	Kyphosis, Scoliosis	OMIM:609008
Frontofacionasal Dysplasia	Cleft upper lip, Brachycephaly, Orofacial cleft, Midface retrusion, Cranium bifidum occultum, Bif...	OMIM:229400
Marden-Walker Syndrome	Intrauterine growth retardation, Kyphosis, Scoliosis, Short neck	OMIM:248700
Esophageal Atresia	Respiratory distress, Vocal cord paresis, Episodic respiratory distress, Chronic pulmonary obstru...	ORPHA:1199
Orofaciodigital Syndrome Xvi	Gray matter heterotopia, Apnea	OMIM:617563
Cntnap2-Related Developmental And Epileptic Encephalopathy	Intermittent hyperventilation, Abnormality of neuronal migration	ORPHA:163681
Microphthalmia, Syndromic 9	Hypoplastic spleen, Multilobulated spleen	OMIM:601186
Glossopharyngeal Neuralgia	Vocal cord paralysis, Abnormality of the cervical spine	ORPHA:221098
Schwartz-Jampel Syndrome	Death in infancy, Abnormally ossified vertebrae, Apnea, Hyperlordosis, Short neck, Kyphosis, Spin...	ORPHA:800
Mucopolysaccharidosis Type 6	Kyphosis, Sinusitis, Ovoid vertebral bodies, Short neck	ORPHA:583
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Bilateral vocal cord paresis, Neonatal respiratory distress, Apnea, Aspiration, Stridor, Intraute...	OMIM:614653
Van Maldergem Syndrome 2	Subcortical band heterotopia, Gray matter heterotopia, Scoliosis, Tracheomalacia, Periventricular...	OMIM:615546
Distal Triplication 15Q	Intrauterine growth retardation, Syringomyelia, Kyphosis, Scoliosis	ORPHA:314588
Schimmelpenning-Feuerstein-Mims Syndrome	Growth delay, Abnormality of dental color, Cranial asymmetry, Short stature	OMIM:163200
Man1B1-Cdg	Periventricular heterotopia	ORPHA:397941
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Kyphosis, Scoliosis	OMIM:615381
Costello Syndrome	Hydrocephalus, Pneumothorax, Respiratory insufficiency, Respiratory failure, Tracheomalacia	OMIM:218040
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Nijmegen Breakage Syndrome	Respiratory failure, Recurrent pneumonia, Abnormality of neuronal migration	ORPHA:647
Ear-Patella-Short Stature Syndrome	Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea	ORPHA:2554
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Neonatal respiratory distress, Kyphosis, Scoliosis, Death in childhood, Intrauterine growth retar...	OMIM:619005
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Kyphosis, Hypopnea, Restrictive ventilatory defect, Scoliosis, Aspiration...	OMIM:619482
Pagod Syndrome	Encephalocele, Death in infancy, Spina bifida, Meningocele, Abnormality of neuronal migration	ORPHA:991
15Q14 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261190
Fraser Syndrome 2	Respiratory failure, Short neck	OMIM:617666
Orofaciodigital Syndrome Iii	Kyphosis, Myoclonus	OMIM:258850
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Kyphosis, Recurrent pneumonia, Scoliosis, Hypoventilation	OMIM:618493
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Congenital Disorder Of Glycosylation, Type Ia	Death in infancy, Ataxia, Tremor, Kyphosis, Dysmetria, Death in childhood, Intention tremor	OMIM:212065
Dyggve-Melchior-Clausen Disease	Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th...	OMIM:223800
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
Tuberous Sclerosis Complex	Respiratory distress, Respiratory failure, Noncommunicating hydrocephalus	ORPHA:805
Pheochromocytoma/Paraganglioma Syndrome 1	Vocal cord paralysis	OMIM:168000
Fontaine Progeroid Syndrome	Death in infancy, Periventricular heterotopia, Hydrocephalus, Pneumothorax, Respiratory insuffici...	OMIM:612289
Peroxisome Biogenesis Disorder 1A (Zellweger)	Gray matter heterotopia, Neonatal respiratory distress, Polymicrogyria, Death in childhood	OMIM:214100
Genitopalatocardiac Syndrome	Intrauterine growth retardation, Kyphosis, Scoliosis	ORPHA:2075
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Scoliosis	ORPHA:261144
Megalocornea-Intellectual Disability Syndrome	Kyphosis, Ataxia, Scoliosis	ORPHA:2479
Orofaciodigital Syndrome I	Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Agenesis of...	OMIM:311200
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis	OMIM:603387
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Neonatal death, Frontal polymicrogyria, Pachygyria, Gray matter heterotopia	OMIM:620024
Dysostosis, Stanescu Type	Hyperlordosis, Kyphosis, Scoliosis, Short neck	ORPHA:1798
Atelis Syndrome 2	Thrombocytopenia, Remnants of the hyaloid vascular system, Anemia	OMIM:620185
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Kyphosis, Scoliosis	ORPHA:404440
Distal 16P11.2 Microdeletion Syndrome	Kyphosis	ORPHA:261222
X-Linked Intellectual Disability, Cabezas Type	Tremor, Kyphosis, Scoliosis, Short neck	ORPHA:85293
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Stillbirth, Severe hydrocephalu...	OMIM:236680
Congenital Heart Defects And Skeletal Malformations Syndrome	Intrauterine growth retardation, Kyphosis, Repeated pneumothoraces, Scoliosis	OMIM:617602
Cowden Syndrome 5	Kyphosis, Scoliosis, Intention tremor	OMIM:615108
Van Esch-O'Driscoll Syndrome	Sacral dimple, Unilateral vocal cord paralysis, Scoliosis, Intrauterine growth retardation, Spast...	OMIM:301030
Miller-Dieker Lissencephaly Syndrome	Gray matter heterotopia, Lissencephaly, Pachygyria, Recurrent aspiration pneumonia, Agyria	OMIM:247200
Koolen-De Vries Syndrome	Gray matter heterotopia, Vertebral fusion, Kyphosis, Scoliosis	OMIM:610443
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Kyphosis, Hemivertebrae, Scoliosis, Umbilical hernia, Spasticity	OMIM:301040
Spondyloenchondrodysplasia	Pneumonia, Kyphosis, Chorea, Platyspondyly, Spasticity	ORPHA:1855
Alstrom Syndrome	Kyphosis, Asthma, Recurrent pneumonia, Scoliosis	OMIM:203800
Orofaciodigital Syndrome Type 6	Apnea, Episodic tachypnea, Abnormality of neuronal migration	ORPHA:2754
Weaver Syndrome	Kyphosis, Slurred speech, Poor fine motor coordination, Hypertonia, Scoliosis, Umbilical hernia, ...	OMIM:277590
Cowden Syndrome 6	Kyphosis, Scoliosis, Intention tremor	OMIM:615109
Multiple Pterygium-Malignant Hyperthermia Syndrome	Dyspnea, Kyphosis, Scoliosis	ORPHA:2215
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Tremor, Kyphosis, Scoliosis, Gait ataxia	ORPHA:476126
2P15P16.1 Microdeletion Syndrome	Intrauterine growth retardation, Lower limb spasticity, Kyphosis, Scoliosis	ORPHA:261349
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:221900
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure	ORPHA:79404
Holt-Oram Syndrome	Kyphosis, Scoliosis	ORPHA:392
Osteogenesis Imperfecta, Type Iv	Kyphosis, Biconcave flattened vertebrae, Scoliosis	OMIM:166220
Koolen-De Vries Syndrome	Vertebral fusion, Vertebral segmentation defect, Kyphosis, Scoliosis	ORPHA:96169
Sporadic Pheochromocytoma/Secreting Paraganglioma	Tremor, Vocal cord paralysis	ORPHA:276621
Gitelman Syndrome	Respiratory distress, Paralysis	ORPHA:358
Mucopolysaccharidosis Type 3	Vocal cord paresis, Ataxia, Abnormal pyramidal sign, Upper airway obstruction, Abnormal form of t...	ORPHA:581
Bilateral Perisylvian Polymicrogyria	Apnea, Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Bilate...	ORPHA:98889
Multiple Pterygium Syndrome, Escobar Variant	Neonatal respiratory distress, Thoracolumbar scoliosis, Short neck, Kyphosis, Fused cervical vert...	OMIM:265000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Gray matter heterotopia, Vertebral segmentation defect, Nocturnal hypoventilation, Scoliosis, Age...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Gray matter heterotopia, Vertebral segmentation defect, Nocturnal hypoventilation, Scoliosis, Age...	ORPHA:352665
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Respiratory insufficiency due to muscle weakn...	ORPHA:273
Spondyloperipheral Dysplasia	Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly	OMIM:271700
Marfanoid-Progeroid-Lipodystrophy Syndrome	Intrauterine growth retardation, Kyphosis, Dural ectasia	OMIM:616914
Cole-Carpenter Syndrome 2	Kyphosis, Platyspondyly	OMIM:616294
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia, Pleural effusion, Scoliosis, Vertebral segmentation defect	ORPHA:453499
Hurler Syndrome	Short neck, Hypoplasia of the odontoid process, Kyphosis, Umbilical hernia, Biconcave vertebral b...	OMIM:607014
Codas Syndrome	Hypoplasia of the odontoid process, Coronal cleft vertebrae, Lumbar scoliosis, Scoliosis, Vocal c...	OMIM:600373
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Prader-Willi Syndrome	Hypoventilation, Kyphosis, Poor gross motor coordination, Poor fine motor coordination, Scoliosis...	OMIM:176270
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Kyphosis, Asthma, Scoliosis	ORPHA:500055
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Periventricular heterotopia, Partial agenesis of the corpus callosum, Si...	OMIM:615948
Basel-Vanagaite-Smirin-Yosef Syndrome	Kyphosis, Recurrent pneumonia, Scoliosis, Pulmonary arterial hypertension, Spasticity	ORPHA:464738
Schinzel-Giedion Syndrome	Respiratory distress, Sacrococcygeal teratoma, Kyphoscoliosis, Short neck, Recurrent pneumonia, V...	ORPHA:798
Shprintzen Omphalocele Syndrome	Kyphosis, Neonatal respiratory distress, Lumbar hyperlordosis, Scoliosis	OMIM:182210
Arima Syndrome	Occipital meningocele, Dyspnea, Tachypnea, Gray matter heterotopia	OMIM:243910
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Kyphosis, Scoliosis	OMIM:619951
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress, Kyphosis, Syringomyelia, Spondylolysis, Scol...	OMIM:119600
Cowden Syndrome 1	Kyphosis, Scoliosis, Intention tremor	OMIM:158350
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies	OMIM:219090
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Ulbright-Hodes Syndrome	Respiratory distress, Short neck, Pneumothorax, Ovoid thoracolumbar vertebrae, Respiratory failur...	ORPHA:3404
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Kyphosis, Abnormality of neuronal migration, Scoliosis	ORPHA:464311
Gaucher Disease Type 1	Kyphosis, Vertebral compression fracture, Pulmonary arterial hypertension	ORPHA:77259
Microphthalmia, Lenz Type	Kyphosis, Scoliosis, Hyperlordosis	ORPHA:568
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis	OMIM:106300
Wolf-Hirschhorn Syndrome	Sacral dimple, Tethered cord, Ataxia, Kyphosis, Abnormal form of the vertebral bodies, Abnormalit...	ORPHA:280
Vici Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:242840
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis	OMIM:177850
Pineoblastoma	Paralysis	ORPHA:251909
Alkaptonuria	Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration	OMIM:203500
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation, Respiratory failure, Recurrent pneumonia, Spontaneous pneumothorax	ORPHA:731
Hereditary Pheochromocytoma-Paraganglioma	Tremor, Vocal cord paralysis	ORPHA:29072
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres...	OMIM:259770
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis	OMIM:259730
Classic Homocystinuria	Hemiplegia/hemiparesis, Kyphosis, Scoliosis, Pulmonary embolism	ORPHA:394
Cohen Syndrome	Intrauterine growth retardation, Kyphosis, Scoliosis	ORPHA:193
Acth-Independent Macronodular Adrenal Hyperplasia	Kyphosis	OMIM:219080
Noonan Syndrome 14	Kyphosis, Short neck	OMIM:619745
Intellectual Developmental Disorder, Autosomal Dominant 57	Kyphosis, Scoliosis, Hyperventilation	OMIM:618050
Osteogenesis Imperfecta, Type Viii	Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis	OMIM:610915
Osteogenesis Imperfecta	Neonatal respiratory distress, Ataxia, Cervical kyphosis, Kyphosis, Vertebral compression fractur...	ORPHA:666
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis	OMIM:610475
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis	OMIM:619244
Mgat2-Cdg	Respiratory distress, Kyphosis, Scoliosis	ORPHA:79329
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Torticollis, Isometric tremor, Ataxia, Clonus, Cerebral palsy, Head titubation, Kyphos...	OMIM:619475
Koolen-De Vries Syndrome Due To A Point Mutation	Speech apraxia, Sacral dimple, Spina bifida, Hyperlordosis, Kyphosis, Dural ectasia, Scoliosis, T...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Speech apraxia, Sacral dimple, Spina bifida, Hyperlordosis, Kyphosis, Dural ectasia, Scoliosis, T...	ORPHA:363958
Pierson Syndrome	Retinal detachment, Posterior lenticonus, Remnants of the hyaloid vascular system, Retinal hemorr...	OMIM:609049
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Kyphosis, Umbilical hernia	ORPHA:536532
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
Tyrosinemia, Type I	Periodic paralysis	OMIM:276700
2Q31.1 Microdeletion Syndrome	Kyphosis, Vertebral segmentation defect, Scoliosis, Short neck	ORPHA:251014
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral endplates, Corona...	OMIM:143095
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Gait ataxia, Kyphosis, Scoliosis, Hyperlordosis	OMIM:617011
Mucolipidosis Type Ii	Respiratory failure requiring assisted ventilation, Kyphosis, Stridor, Restrictive ventilatory de...	ORPHA:576
Autosomal Recessive Robinow Syndrome	Death in infancy, Sacral dimple, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis, ...	ORPHA:1507
Degcags Syndrome	Sacral dimple, Pneumonia, Asthma, Vocal cord paralysis, Pulmonary arterial hypertension, Rhinitis...	OMIM:619488
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Kyphosis, Scoliosis	OMIM:619557
Hajdu-Cheney Syndrome	Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Syringomyelia, Scoliosis, Umbilical herni...	ORPHA:955
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Kyphosis, Hemivertebrae, Scoliosis, Short neck	OMIM:618223
Cockayne Syndrome	Neurogenic bladder, Ataxia, Action tremor, Kyphosis, Progressive gait ataxia, Hypertonia, Scolios...	ORPHA:191
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly	OMIM:601374
Smith-Lemli-Opitz Syndrome	Death in infancy, Periventricular heterotopia, Partial agenesis of the corpus callosum, Hydroceph...	OMIM:270400
Marfan Syndrome	Spontaneous pneumothorax, Kyphosis, Meningocele, Dural ectasia, Scoliosis, Emphysema, Spondylolis...	ORPHA:558
Cockayne Syndrome Type 3	Kyphosis, Neurogenic bladder, Scoliosis, Intention tremor	ORPHA:90324
Monosomy 9Q22.3	Umbilical hernia, Abnormality of the vertebral column, Kyphosis, Short neck	ORPHA:77301
Robinow Syndrome, Autosomal Dominant 3	Kyphosis, Sacral dimple, Scoliosis, Short neck	OMIM:616894
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis	OMIM:610489
X-Linked Intellectual Disability, Snyder Type	Kyphosis, Involuntary movements, Myoclonus, Kyphoscoliosis	ORPHA:3063
Magel2-Related Prader-Willi-Like Syndrome	Kyphosis, Scoliosis	ORPHA:398069
Multiple Endocrine Neoplasia, Type Iib	Kyphosis, Scoliosis, Hyperlordosis	OMIM:162300
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Intrauterine growth retardation, Unilateral vocal cord paralysis	ORPHA:324540
Igg4-Related Thyroid Disease	Vocal cord paralysis	ORPHA:64744
Tsh-Secreting Pituitary Adenoma	Tremor, Periodic hypokalemic paresis	ORPHA:91347
Familial Osteodysplasia, Anderson Type	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2769
Oculocerebrorenal Syndrome Of Lowe	Death in infancy, Clonus, Kyphosis, Respiratory insufficiency, Platyspondyly, Scoliosis, Umbilica...	ORPHA:534
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Kyphosis, Hypertonia, Scoliosis, Short neck	OMIM:619194
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Kyphosis, Scoliosis	OMIM:619718
Cockayne Syndrome B	Ataxia, Tremor, Kyphosis, Death in childhood, Intrauterine growth retardation	OMIM:133540
Paget Disease Of Bone 5, Juvenile-Onset	Kyphosis	OMIM:239000
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Speech apraxia, Ataxia, Kyphoscoliosis, Tremor, Kyphosis, Scoliosis	OMIM:300967
Dyrk1A-Related Intellectual Disability Syndrome	Intrauterine growth retardation, Kyphosis, Abnormality of the cervical spine, Scoliosis	ORPHA:464306
Frank-Ter Haar Syndrome	Kyphosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Kyphoscoliosis	OMIM:249420
Genitopatellar Syndrome	Periventricular heterotopia, Colpocephaly, Scoliosis, Pachygyria, Agenesis of corpus callosum	OMIM:606170
Lymphedema-Distichiasis Syndrome	Kyphosis, Chylothorax	OMIM:153400
Poland Syndrome	Encephalocele, Short neck, Kyphosis, Hemivertebrae, Vertebral segmentation defect, Scoliosis, Spi...	ORPHA:2911
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Kyphosis, Scoliosis	ORPHA:1969
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Kyphosis, Lumbar hyperlordosis, Kyphoscoliosis, Gait ataxia	ORPHA:457359
Smith-Lemli-Opitz Syndrome	Short neck, Kyphosis, Abnormal form of the vertebral bodies, Hypertonia, Scoliosis, Intrauterine ...	ORPHA:818
Marden-Walker Syndrome	Intrauterine growth retardation, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2461
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:618918
Cardiofacioneurodevelopmental Syndrome	Kyphosis	OMIM:619123
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis	OMIM:609944
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system	ORPHA:637
Camurati-Engelmann Disease	Ataxia, Hyperlordosis, Kyphosis, Abnormality of the vertebral column, Scoliosis	ORPHA:1328
Aspartylglucosaminuria	Kyphosis, Spasticity, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral bodies, Spond...	OMIM:208400
Zttk Syndrome	Kyphosis, Hemivertebrae, Scoliosis, Intrauterine growth retardation, Spasticity	OMIM:617140
Wiedemann-Rautenstrauch Syndrome	Frontal bossing, Natal tooth, Thin upper lip vermilion, Short stature, Abnormality of the dentiti...	ORPHA:3455
Orofaciodigital Syndrome Type 14	Partial agenesis of the corpus callosum, Aplasia of the epiglottis, Periventricular heterotopia	ORPHA:434179
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Ataxia, Kyphosis, Hypertonia, Scoliosis, Intrauterine growth retardation	ORPHA:268261
Holoprosencephaly 2	Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	OMIM:157170
Cockayne Syndrome A	Tremor, Intrauterine growth retardation, Kyphosis, Ataxia	OMIM:216400
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:300166
Mend Syndrome	Kyphosis, Sacral dimple, Hypertonia	OMIM:300960
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral endplates, Posterior scallop...	ORPHA:3042
Mend Syndrome	Kyphosis, Sacral dimple, Limb hypertonia	ORPHA:401973
17Q11 Microdeletion Syndrome	Abnormal central motor function, Kyphosis, Dural ectasia, Pulmonary arterial hypertension, Abnorm...	ORPHA:97685
Wolf-Hirschhorn Syndrome	Vertebral fusion, Sacral dimple, Tethered cord, Kyphosis, Abnormal form of the vertebral bodies, ...	OMIM:194190
Williams Syndrome	Death in early adulthood, Sacral dimple, Ataxia, Involuntary movements, Hyperlordosis, Tremor, Ky...	ORPHA:904
Neuroocular Syndrome	Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:619539
Stickler Syndrome	Kyphosis, Hemiplegia/hemiparesis, Spinal canal stenosis, Abnormal form of the vertebral bodies, P...	ORPHA:828
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Kyphosis, Lumbar hyperlordosis	ORPHA:2232
Feingold Syndrome 1	Vocal cord paralysis	OMIM:164280
Cowden Syndrome	Kyphosis, Ataxia, Scoliosis	ORPHA:201
Proteus Syndrome	Pulmonary embolism, Kyphosis, Abnormal form of the vertebral bodies, Gray matter heterotopia, Sco...	ORPHA:744
Coffin-Siris Syndrome 1	Sacral dimple, Kyphosis, Gait ataxia, Scoliosis, Umbilical hernia, Spina bifida occulta, Intraute...	OMIM:135900
Williams-Beuren Syndrome	Incoordination, Kyphoscoliosis, Poor coordination, Vocal cord paralysis, Umbilical hernia, Intrau...	OMIM:194050
Ramon Syndrome	Kyphosis, Scoliosis	OMIM:266270
Occipital Horn Syndrome	Kyphosis, Platyspondyly, Scoliosis	ORPHA:198
Lenz-Majewski Hyperostotic Dwarfism	Kyphosis, Scoliosis	ORPHA:2658
Occipital Horn Syndrome	Kyphosis, Platyspondyly	OMIM:304150
Neurofibromatosis Type 1	Kyphosis, Ataxia, Scoliosis	ORPHA:636
1P36 Deletion Syndrome	Kyphosis, Spinal canal stenosis, Scoliosis, Hemiplegia/hemiparesis	ORPHA:1606
Acromegaly	Kyphosis, Cerebral palsy, Spinal canal stenosis	ORPHA:963
Somatomammotropinoma	Kyphosis, Cerebral palsy, Spinal canal stenosis	ORPHA:314769
Norrie Disease	Remnants of the hyaloid vascular system, Retinal detachment, Optic atrophy	ORPHA:649
Turner Syndrome Due To Structural X Chromosome Anomalies	Intrauterine growth retardation, Kyphosis, Scoliosis, Short neck	ORPHA:99413
Mosaic Monosomy X	Intrauterine growth retardation, Kyphosis, Scoliosis, Short neck	ORPHA:99228
Monosomy X	Intrauterine growth retardation, Kyphosis, Scoliosis, Short neck	ORPHA:99226
Turner Syndrome	Intrauterine growth retardation, Kyphosis, Scoliosis, Short neck	ORPHA:881
Spondyloepimetaphyseal Dysplasia, X-Linked	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat...	OMIM:300106
Coffin-Lowry Syndrome	Kyphosis, Scoliosis, Lumbar kyphosis	OMIM:303600
Viss Syndrome	Kyphosis, Asthma, Pneumothorax, Dyspnea, Pulmonary arterial hypertension, Scoliosis, Umbilical he...	OMIM:619472
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Kyphosis, Platyspondyly, Abnormality of the vertebral column, Abnormal vertebral morphology	ORPHA:2273
Wrinkly Skin Syndrome	Umbilical hernia, Kyphosis, Scoliosis, Intrauterine growth retardation	OMIM:278250
Lowe Oculocerebrorenal Syndrome	Kyphosis, Platyspondyly, Scoliosis	OMIM:309000
Sotos Syndrome	Sacrococcygeal teratoma, Tremor, Kyphosis, Poor coordination, Scoliosis, Umbilical hernia, Abnorm...	ORPHA:821
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Periventricular heterotopia, Lateral ventricle dilatation, Scoliosis, Polymicrogyria, Agenesis of...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Periventricular heterotopia, Lateral ventricle dilatation, Scoliosis, Polymicrogyria, Agenesis of...	ORPHA:261552
Branchiooculofacial Syndrome	Hyperlordosis, Short neck, Kyphosis, Branchial anomaly, Intrauterine growth retardation	OMIM:113620
Mowat-Wilson Syndrome	Polymicrogyria, Agenesis of corpus callosum, Scoliosis, Periventricular heterotopia	ORPHA:2152
Primrose Syndrome	Kyphosis, Posterior scalloping of vertebral bodies, Ataxia, Irregular vertebral endplates	OMIM:259050
Yunis-Varon Syndrome	Anterior concavity of thoracic vertebrae, Kyphosis, Pulmonary arterial hypertension, Aspiration p...	OMIM:216340
Alström Syndrome	Respiratory distress, Thoracic scoliosis, Incoordination, Ataxia, Kyphosis, Chronic pulmonary obs...	ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Top2b

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Top2b.

No publications found that use IMPC mice or data for Top2b.

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MGI Allele	Allele Type	Produced
Top2b^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Top2b^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Top2b MGI:98791

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Morphology Embryo E14.5-E15.5

X-ray

X-ray

MicroCT E14.5-E15.5

Human diseases caused by Top2b mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data