Gene Summary

Name:
topoisomerase (DNA) II beta
Synonyms:
Top-2,  D230016L12Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
edema Top2bem1(IMPC)Mbp HOM E15.5 0.00
persistence of hyaloid vascular system Top2bem1(IMPC)Mbp HET Early adult 5.83×10-08
abnormal spleen morphology Top2bem1(IMPC)Mbp HET Early adult 0.00
small spleen Top2bem1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Top2bem1(IMPC)Mbp HOM E15.5 0.00
cleft palate Top2bem1(IMPC)Mbp HOM E15.5 0.00
abnormal craniofacial morphology Top2bem1(IMPC)Mbp HOM E15.5 0.00
abnormal eye morphology Top2bem1(IMPC)Mbp HET Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Spondylolysis, Os odontoideum, Spondylolisthesis at L5-S1, Atlantoaxial instability, Hemiparesis,... OMIM:600561
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Lissencephaly, Pachygyria, Agyria, Gray matter heterotopia, Hypopla... OMIM:615411
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Subcortical band heterotopia, Pachygyria, Agyria, Gray matter heterotopia, Cortical dysplasia, Mi... OMIM:615412
Angioedema, Hereditary, 6
Swollen lip, Edema of the dorsum of hands, Facial edema, Angioedema OMIM:619363
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Abnormality of neuronal migration, Schizencephaly, Abnormal corpus callosum morphology, Simplifie... OMIM:604317
Microlissencephaly
Pneumonia, Periventricular heterotopia, Neuronal loss in the cerebral cortex, Simplified gyral pa... ORPHA:1083
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis, Scoliosis, Respiratory insufficiency ORPHA:640
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Abnormal vertebral morphology, Abnormal corpus callosum morpho... OMIM:618709
Lissencephaly 1
Subcortical band heterotopia, Pachygyria, Agyria, Abnormal cerebral white matter morphology, Gray... OMIM:607432
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Abnormal cerebral cortex morphology, Polymicrogyria, Subcortic... ORPHA:101029
Syngnathia
Cleft palate OMIM:119550
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory insufficiency, Respiratory failure, Cerebral dysmyel... OMIM:611722
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Polymicrogyria, Hydrocephalu... OMIM:604213
Band Heterotopia
Subcortical band heterotopia, Hydrocephalus, Polymicrogyria, Gray matter heterotopia, Agenesis of... OMIM:600348
Butyrylcholinesterase Deficiency
Paralysis, Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Lissencephaly, X-Linked, 1
Death in infancy, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly, Agenesis of corpus ... OMIM:300067
Angioedema, Hereditary, 5
Swollen lip, Edema of the dorsum of hands, Facial edema, Angioedema OMIM:619361
Lipedema
Edema OMIM:614103
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Paralysis, Parkinsonism, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology OMIM:105500
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory insufficiency due to muscle weakness, Kyphosis, Polymicrogyria, Respiratory failure, ... OMIM:618291
Primary Lateral Sclerosis, Adult, 1
Babinski sign, Spastic gait, Spastic dysarthria, Spastic tetraparesis, Abnormal upper motor neuro... OMIM:611637
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Diaphragmatic paralysis, Respiratory insufficiency, Respiratory failure, Respiratory distress, Re... OMIM:614399
Lissencephaly 3
Lissencephaly, Pachygyria, Polymicrogyria, Agyria, Gray matter heterotopia, Hypoplasia of the cor... OMIM:611603
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death, Intrauterine growth retardation OMIM:301021
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Periventricular nodular heterotopia, Progressive microcephaly, Hypop... OMIM:608097
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Limb myoclonus, Recurrent aspiration pneumonia, Frequent falls, Respiratory insuffici... ORPHA:2590
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Hydrocephalus, Megalencephaly OMIM:615938
Amyotrophic Lateral Sclerosis 5, Juvenile
Babinski sign, Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis, F... OMIM:602099
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia OMIM:606713
Spastic Paraplegia 18, Autosomal Recessive
Babinski sign, Upper limb spasticity, Lower limb spasticity, Kyphosis, Spastic paraplegia, Scoliosis OMIM:611225
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory insufficiency due to muscle weakness, Neonatal death, Kyphosis, Abnormal anterior hor... OMIM:611890
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Hypoplasia of the corpus callosum, Respiratory insufficiency, Cerebral corti... OMIM:616081
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Respiratory insufficiency, Rigidity OMIM:613869
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Gray ... OMIM:617201
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Central apnea, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia, Hemipare... ORPHA:71277
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Respiratory insufficiency due to muscle weakness, Scoliosis, Kyphosis OMIM:617087
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Paralysis, Limb fasciculations, Dysmetria, Progressive cerebellar ataxia, Dyspnea, Gait ataxia OMIM:606183
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Pachygyria, Agyria ORPHA:1084
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency, Tongue fasciculations OMIM:253300
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Frequent falls, Respiratory insufficiency due to muscle weakness, Kyphosis, Spinal rigidity, Hype... OMIM:300718
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Respiratory insufficiency, Microcephaly, Cerebral calcification ORPHA:1314
Neuronopathy, Distal Hereditary Motor, Type Viib
Vocal cord paralysis, Abnormal lower motor neuron morphology OMIM:607641
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Dysgyria, Hydrocephalus, Abnormal cerebral white matter morphology, Gray matter heterotopia, Type... ORPHA:352682
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Scoliosis OMIM:605285
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Myoclonus, Hypertonia, Spasticity, Respiratory failure OMIM:225753
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Microcephaly OMIM:618185
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the corpus callosum, Thick cerebral cortex, Lissencephaly, Periventricular ribbonli... OMIM:618677
Hyperekplexia 4
Kyphoscoliosis, Myoclonus, Hypertonia, Respiratory failure, Umbilical hernia OMIM:618011
Juvenile Primary Lateral Sclerosis
Spastic gait, Spastic dysarthria, Spastic tetraparesis, Spasticity, Abnormal pyramidal sign, Abno... ORPHA:247604
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Cough, Tremor, Respiratory failure, Dyspnea, Respiratory failure requiring a... ORPHA:90117
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Babinski sign, Amyotrophic lateral sclerosis, Lower limb spasticity, Fasciculations, Respiratory ... OMIM:613954
Laryngeal Abductor Paralysis
Paralysis, Congenital laryngeal stridor OMIM:308850
Glut1 Deficiency Syndrome 1
Paralysis, Babinski sign, Choreoathetosis, Myoclonus, Hemiparesis, Ataxia, Spasticity OMIM:606777
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Myoclonus, Fasciculations, Progressive cerebellar ataxia, Abnormal lower motor neuron morphology,... ORPHA:95434
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Neuronal loss in the cerebral cortex, Central sleep apnea, ... ORPHA:168486
Amyotrophic Lateral Sclerosis 4, Juvenile
Babinski sign, Clonus, Pallor of dorsal columns of the spinal cord, Amyotrophic lateral sclerosis... OMIM:602433
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Schizencephaly, Dysgenesis of the basal ganglia, Abnormal caudate nuc... ORPHA:300573
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Amyotrophic Lateral Sclerosis 2, Juvenile
Babinski sign, Upper limb spasticity, Spastic gait, Amyotrophic lateral sclerosis, Spastic dysart... OMIM:205100
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis OMIM:608634
Lissencephaly 5
Subcortical band heterotopia, Leukoencephalopathy, Hypoplasia of the corpus callosum, Porencephal... OMIM:615191
Amyotrophic Lateral Sclerosis 16, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper... OMIM:614373
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Intrauterine growth retardation, Rigidity, Myoclonus, Respiratory ... OMIM:619057
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft lip, Cleft palate, Tooth agenesis ORPHA:1074
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Pierre Robin Syndrome And Oligodactyly
Cleft palate, Pierre-Robin sequence OMIM:172880
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Rigidity, Neonatal death, Apnea, Ataxia, Spasticity, Respiratory failure OMIM:610127
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Platyspondyly, Kyphosis, Respiratory failure, Thoracolumbar scoliosis OMIM:313420
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Microcephaly OMIM:618572
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis OMIM:168400
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Microcephaly, Cerebral calcification ORPHA:1980
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Abnormal vertebral morphology, Stillbirth, Hydrocephalus, Respiratory ... OMIM:276950
Lethal Osteosclerotic Bone Dysplasia
Intrauterine growth retardation, Short neck, Respiratory distress, Respiratory failure, Dyspnea ORPHA:1832
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis, Neonatal asphyxia, Congenital laryngeal stridor, Bronchiectasis ORPHA:2375
Porphyria, Acute Hepatic
Paralysis, Respiratory paralysis OMIM:612740
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Respiratory insufficiency due to muscle weakness, Hyperlordosis, Abnormal lower motor neuron morp... OMIM:611067
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Cleft palate, Stomach cancer OMIM:137215
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Cerebral atrophy OMIM:618637
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Death in infancy, Respiratory insufficiency, Myoclonus, Abnormality of extrapyramidal motor funct... OMIM:614299
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Cerebral atrophy, Respiratory failure, Secondary microcephaly, Hypoplasi... OMIM:617248
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Respiratory insufficiency, Reduced maximal inspiratory pr... ORPHA:266
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Polymicrogyria, Abnormal cerebral white matter morphology, Respiratory... OMIM:615330
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Microcephaly, Respiratory failure, Abnormal periventricular white matt... ORPHA:370968
Primary Lateral Sclerosis, Juvenile
Babinski sign, Spastic gait, Spastic dysarthria, Spasticity of facial muscles, Spasticity of phar... OMIM:606353
Metatropic Dysplasia
Respiratory insufficiency, Long coccyx, Platyspondyly, Kyphosis, Relatively short spine, Anisospo... OMIM:156530
Horner Syndrome, Congenital
Paralysis OMIM:143000
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Amyotrophic Lateral Sclerosis
Paralysis, Motor neuron atrophy, Abnormal respiratory system physiology, Amyotrophic lateral scle... ORPHA:803
Cleft Palate, Isolated
Increased overbite, Cleft palate, Gingival overgrowth, Anterior open-bite malocclusion OMIM:119540
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Spinal rigidity OMIM:604801
Pleoconial Myopathy With Salt Craving
Paralysis OMIM:262900
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory failure, Respiratory insufficiency, Degeneration of anterior horn cells OMIM:600333
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Kyphoscoliosis, Respiratory distress OMIM:619099
Spinocerebellar Ataxia, Autosomal Recessive 8
Dysmetria, Kyphosis, Ataxia, Spasticity, Limb ataxia, Gait ataxia, Scoliosis OMIM:610743
Osteomesopyknosis
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Sclerotic vertebral body ORPHA:2777
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration, Congenital intracerebral calcification, Microcephaly OMIM:236795
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Lissencephaly, Respiratory distress, Abnormal mucociliary clearance, Hypoplasia o... OMIM:619466
Primary Lateral Sclerosis
Babinski sign, Weakness due to upper motor neuron dysfunction, Cervical spinal cord atrophy, Spas... ORPHA:35689
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... ORPHA:254875
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Myoclonus, Death in infancy OMIM:618240
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Abnormal cortical gyration, Neonatal death, Polymicrogyria, Microcephaly OMIM:619602
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Death in infancy, Respiratory insufficiency, Focal T2 hyperintense... OMIM:245400
Neuromyelitis Optica Spectrum Disorder
Paraplegia, Respiratory failure, Myelitis ORPHA:71211
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Ovoid vert... ORPHA:40
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Acalvaria
Holoprosencephaly, Abnormality of neuronal migration, Spina bifida, Hydrocephalus ORPHA:945
Toxin-Mediated Infectious Botulism
Paralysis, Diaphragmatic paralysis, Cerebral palsy, Respiratory insufficiency due to muscle weakn... ORPHA:230800
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Van Der Woude Syndrome 1
Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Bifid uvula OMIM:119300
Congenital Muscular Dystrophy, Ullrich Type
Frequent falls, Torticollis, Kyphosis, Spinal rigidity, Respiratory failure, Short neck, Scoliosis ORPHA:75840
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Paralysis, Amyotrophic lateral sclerosis OMIM:300857
Spastic Paralysis, Infantile-Onset Ascending
Babinski sign, Spastic tetraplegia, Tetraplegia, Abnormal lower motor neuron morphology, Spastic ... OMIM:607225
Congenital Muscular Dystrophy Without Intellectual Disability
Kyphoscoliosis, Pachygyria, Abnormal cerebral white matter morphology, Gray matter heterotopia, M... ORPHA:370980
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis OMIM:613710
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency OMIM:605711
Variegate Porphyria
Paralysis OMIM:176200
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Diaphragmatic paralysis, Inspiratory stridor, Intrauterine growth retardation, Tachypnea, Ventila... OMIM:604320
Brachyolmia Type 1, Hobaek Type
Intervertebral space narrowing, Back pain, Kyphosis, Short neck, Squared-off platyspondyly, Scoli... OMIM:271530
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory failure, Neonatal death, Respiratory insufficiency OMIM:228940
Brown-Vialetto-Van Laere Syndrome 1
Clumsiness, Knee clonus, Stridor, Respiratory insufficiency, Vocal cord paralysis, Kyphosis, Atax... OMIM:211530
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Abnormal cortical gyration, Hypointensity of cerebral white matter on MRI, Respiratory insufficie... OMIM:607855
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Choanal Atresia And Lymphedema
High palate, Pericardial effusion, Lymphedema OMIM:613611
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Pachygyria, Gray matter heterotopia, Agenesis of corpus callosum... ORPHA:2512
Hereditary Motor And Sensory Neuropathy, Type Iic
Intercostal muscle weakness, Stridor, Obstructive sleep apnea, Vocal cord paresis, Respiratory fa... OMIM:606071
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Respiratory insufficiency, Death in childhood, Lissencephaly, Pachygyria, Hydrocephalus, Agyria, ... OMIM:613153
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Microcephaly ORPHA:2216
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Scoliosis, Kyphosis ORPHA:101075
Hemimegalencephaly
Hemimegalencephaly, Pachygyria, Polymicrogyria, Gray matter heterotopia, Focal cortical dysplasia... ORPHA:99802
Subependymal Nodular Heterotopia
Meningocele, Partial agenesis of the corpus callosum, Abnormality of neuronal migration, Myelomen... ORPHA:101030
Brain Small Vessel Disease 2
Schizencephaly, Porencephalic cyst, Polymicrogyria, Subcortical heterotopia OMIM:614483
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Central hypoventilation, Apnea, Leukoencephalopathy OMIM:618233
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal deformities, Respiratory insufficiency due to muscle weakness, Kyphosis, Spinal rigidity, ... ORPHA:352447
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Death in infancy, Myelopathy, Tremor, Ataxia, Tetraparesis, Respiratory failure OMIM:617186
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Babinski sign, Dysmetria, Myoclonus, Intention tremor, Tremor, Ataxia, Hypertonia, Respiratory fa... OMIM:616505
Bronchopulmonary Dysplasia
Wheezing, Diaphragmatic paralysis, Central apnea, Hyperoxemia, Abnormal respiratory system physio... ORPHA:70589
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Abnormal cortical gyration, Respiratory failure, Neonatal respiratory distress OMIM:616867
Amyotrophic Lateral Sclerosis 1
Pseudobulbar paralysis, Amyotrophic lateral sclerosis, Fasciculations, Spasticity, Sleep apnea, D... OMIM:105400
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy, Polymicrogyria, Microcephaly OMIM:610678
Alg1-Cdg
Kyphosis, Progressive microcephaly, Cerebral atrophy, Respiratory failure, Scoliosis ORPHA:79327
Spastic Paraplegia 46, Autosomal Recessive
Upper limb dysmetria, Babinski sign, Knee clonus, Upper limb spasticity, Spastic paraplegia, Spas... OMIM:614409
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Neonatal death, Death in infancy, Death in childhood OMIM:619334
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Microlissencephaly, Primary microcephaly, Respiratory distress... ORPHA:89844
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Progressive cervical vertebral spine fusion, Respiratory failure, Smal... OMIM:135100
Lymphatic Malformation 5
Cleft palate, Facial edema, Predominantly lower limb lymphedema OMIM:153200
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Polymicrogyria, Agyria, Cerebral calcification, Respiratory failure, Hypoplasia of... OMIM:616538
Asbestos Intoxication
Wheezing, Restrictive ventilatory defect, Hypoxemia, Exertional dyspnea, Dyspnea, Late inspirator... ORPHA:2302
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Communicating hydrocephalus, Respiratory insufficiency OMIM:273730
Lethal Congenital Contracture Syndrome 7
Paralysis OMIM:616286
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Weakness due to upper motor neuron dysfunction, Abnormality of extrapyramidal moto... ORPHA:275872
Atypical Rett Syndrome
Involuntary movements, Limb myoclonus, Sudden episodic apnea, Abnormal pattern of respiration, To... ORPHA:3095
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Scoliosis, Kyphosis ORPHA:101078
Thanatophoric Dysplasia, Type I
Respiratory insufficiency, Neonatal death, Severe platyspondyly, Hydrocephalus, Gray matter heter... OMIM:187600
Mental Retardation, Autosomal Dominant 13
Abnormality of neuronal migration, Pachygyria, Hypoplasia of the corpus callosum, Microcephaly OMIM:614563
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Myoclonus, Tremor, Ataxia, Tetraparesis, Spasticity, Respiratory failure... ORPHA:363400
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Hypomelanosis Of Ito
Kyphosis, Cerebral atrophy, Gray matter heterotopia, Scoliosis, Microcephaly OMIM:300337
Masa Syndrome
Paraplegia, Lower limb spasticity, Kyphosis, Hyperlordosis, Spastic paraplegia OMIM:303350
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Obstructive sleep apnea, Focal T2 hyperintense basal ganglia lesion, Abnormal cerebral morphology... ORPHA:70472
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Scoliosis, Kyphosis OMIM:618323
Thomas Syndrome
Cleft palate, Oligohydramnios, Cleft upper lip ORPHA:3316
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Head tremor, Abnormal motor neuron morphology, Intention tremor OMIM:613724
Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate
Cleft palate, Polyhydramnios OMIM:241850
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Scoliosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Supernume... OMIM:609813
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Pneumocystosis
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Acute infecti... ORPHA:723
Lissencephaly 6 With Microcephaly
Partial agenesis of the corpus callosum, Microlissencephaly, Periventricular heterotopia, Simplif... OMIM:616212
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Extrapyramidal dyskinesia, Paraparesis, Abnormal lower motor neuro... OMIM:105550
Spinocerebellar Ataxia Type 1
Postural tremor, Dysmetria, Chorea, Bradykinesia, Fasciculations, Progressive cerebellar ataxia, ... ORPHA:98755
Hypokalemic Periodic Paralysis
Paralysis, Periodic hypokalemic paresis, Respiratory paralysis ORPHA:681
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Respiratory distress, Respiratory failure, Cough OMIM:263000
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Kyphosis, Tremor, Hypertonia, Ankle clonus, Spasticity, Abnormal pyramidal sign, Sc... OMIM:617435
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Death in infancy, Tachypnea, Neonatal death, Apnea, Pulmonary arte... OMIM:265120
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Death in infancy, Vertebral fusion, Hemivertebrae, Kyphoscol... OMIM:277300
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Iris coloboma ORPHA:231736
Polyglucosan Body Neuropathy, Adult Form
Spastic paraplegia, Tetraparesis, Abnormal upper motor neuron morphology, Neurogenic bladder OMIM:263570
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Restrictive ventilatory defect, Exertional dyspnea, Orthopnea, Reduced v... ORPHA:98913
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration, Respiratory insufficiency, Holoprosencephaly, Platyspondyly, K... ORPHA:93274
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Babinski sign, Frequent falls, Hand tremor, Abnormality of the spinal cord, Voca... ORPHA:99947
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Abnormal periventricular white matter morphology, Hypoplasia of the corpus c... OMIM:615838
Rabies
Cerebral palsy, Vocal cord paresis ORPHA:770
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Cleft palate, Short philtrum, Thick upper lip vermilion, Thin upper lip vermilion, Abnormality of... OMIM:226440
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lower limb spasticity, Kyphosis, Ataxia, Scoliosis, Lumbar hyperlordosis OMIM:616756
Joubert Syndrome
Abnormality of neuronal migration, Abnormal pattern of respiration, Apnea, Abnormal form of the v... ORPHA:475
Myopathy, Centronuclear, X-Linked
Respiratory failure, Neonatal respiratory distress, Hydrocephalus, Respiratory failure requiring ... OMIM:310400
Foodborne Botulism
Paralysis, Diaphragmatic paralysis, Cerebral palsy, Respiratory insufficiency due to muscle weakn... ORPHA:228371
Leigh Syndrome
Respiratory failure, Focal substantia nigra T2 hyperintensity, Respiratory insufficiency, Abnorma... OMIM:256000
Ectrodactyly-Cleft Palate Syndrome
Cleft palate OMIM:129830
Chiari Malformation Type Ii
Myelomeningocele, Spina bifida, Hydrocephalus, Gray matter heterotopia, Agenesis of corpus callos... OMIM:207950
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency, Hypoventilation, Hyperlordosis, Respiratory failure, Scoliosis OMIM:310200
Machado-Joseph Disease Type 3
Clumsiness, Babinski sign, Vocal cord paralysis, Abnormality of extrapyramidal motor function, Pr... ORPHA:276244
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Kyphosis, Slurred speech, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Tremor, Ataxia, Paraparesis, Scoliosis ORPHA:99014
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Central hypoventilation, Apnea OMIM:619483
Gm2-Gangliosidosis, Ab Variant
Paralysis, Chorea, Exaggerated startle response, Spastic tetraparesis, Hypertonia, Aspiration, Ab... OMIM:272750
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Neonatal respiratory distress, Death in infancy, Nonspecific interstitial pneumonia, T... OMIM:610921
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Abnormal motor neuron morphology, Amyotrophic lateral sclero... ORPHA:52430
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria, Abnormal periventricular white matter morphology OMIM:608840
Immunodeficiency 54
Respiratory failure, Adrenocorticotropic hormone excess, Microcephaly, Respiratory insufficiency OMIM:609981
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Respiratory failure, C... ORPHA:1194
Primary Angiitis Of The Central Nervous System
Paralysis, Hemiparesis, Paraparesis, Ataxia, Tetraparesis, Parkinsonism ORPHA:140989
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Dysmetria, Abnormality of the cervical spine, Kyphosis, Intentio... ORPHA:48431
Van Der Woude Syndrome
Abnormal salivary gland morphology, Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Lip... ORPHA:888
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Anencephaly, Hydrocephalus, Gray matter heterotopia, Type II lissencephaly, Cortical dysplasia, A... OMIM:615287
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Cleft palate, Bifid uvula OMIM:303400
Snakebite Envenomation
Paralysis, Pseudobulbar paralysis, Epistaxis, Respiratory paralysis, Respiratory failure ORPHA:449285
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia, Platyspondyly, Kyphosis, Hydrocephalus, Abnormal cerebral white matt... OMIM:618476
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Communicating hydrocephalus ORPHA:1861
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hydrocephalus, Respiratory insufficiency ORPHA:1895
Cleft Lip/Palate
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... ORPHA:199306
X-Linked Adrenoleukodystrophy
Clumsiness, Paralysis, Paraparesis, Progressive spastic paraparesis, Hemiparesis, Incoordination,... ORPHA:43
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Simplified gyral pattern, Gray matter heterotopia, Lis... OMIM:615219
Lethal Congenital Contracture Syndrome 1
Neonatal death, Paucity of anterior horn motor neurons, Widening of cervical spinal canal OMIM:253310
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Acut... ORPHA:36238
Tetrasomy 18P
Abnormality of neuronal migration, Scoliosis, Microcephaly ORPHA:3307
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Nonspecific interstitial pneumoni... OMIM:610913
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory failure, Hypercapnia, Respiratory insufficiency OMIM:267480
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Respiratory insufficiency, Kyphosis, Reduced vital capacity, Short neck, Scoliosis ORPHA:178148
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration, Microcephaly ORPHA:2204
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Kyphosis OMIM:600175
Cdkl5-Deficiency Disorder
Stereotypical hand wringing, Abnormal respiratory system physiology, Scoliosis, Kyphosis ORPHA:505652
Crisponi Syndrome
Death in infancy, Respiratory insufficiency, Kyphosis, Hypertonia, Scoliosis ORPHA:1545
Machado-Joseph Disease Type 1
Clumsiness, Babinski sign, Vocal cord paralysis, Abnormality of extrapyramidal motor function, Pr... ORPHA:276238
Machado-Joseph Disease Type 2
Clumsiness, Babinski sign, Vocal cord paralysis, Abnormality of extrapyramidal motor function, Pr... ORPHA:276241
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Hemivertebrae, Abnormal form of the vertebral bodies, Respiratory distress, Respiratory failure, ... ORPHA:2759
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Fasciculations OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Fasciculations OMIM:616437
Heart Defects-Limb Shortening Syndrome
Death in infancy, Abnormal form of the vertebral bodies, Kyphosis ORPHA:1354
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Progressive spasticity, Cataplexy, Fasciculations, Stereotypy, Tetraplegia, Ataxia, Recurrent pne... ORPHA:496641
Infantile-Onset X-Linked Spinal Muscular Atrophy
Tongue fasciculations, Respiratory insufficiency, Kyphoscoliosis, Respiratory distress, Abnormal ... ORPHA:1145
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Asthma, Emphys... ORPHA:1164
Chromosome 15Q14 Deletion Syndrome
Cleft palate, Short philtrum, Tented upper lip vermilion, Cleft lip, Everted lower lip vermilion OMIM:616898
Primary Ciliary Dyskinesia
Wheezing, Productive cough, Neonatal respiratory distress, Bronchiectasis, Chronic rhinitis, Chro... ORPHA:244
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Charcot-Marie-Tooth Disease Type 4A
Poor gross motor coordination, Frequent falls, Spinal deformities, Vocal cord paresis, Poor fine ... ORPHA:99948
Combined Oxidative Phosphorylation Defect Type 23
Paroxysmal dyspnea, Stridor, Abnormal thalamic MRI signal intensity, Respiratory failure, Abnorma... ORPHA:444013
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Hydrocephalus, Cerebral atrophy, Respiratory failure, Microcephaly OMIM:259720
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis OMIM:162500
Thanatophoric Dysplasia
Respiratory insufficiency, Platyspondyly, Kyphosis, Hydrocephalus, Gray matter heterotopia ORPHA:2655
Spastic Paraplegia 53, Autosomal Recessive
Clonus, Upper limb hypertonia, Kyphosis, Spastic paraplegia, Lower limb hypertonia OMIM:614898
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Abnormality of neuronal migration, Respiratory insufficiency, Apnea, Microcephaly, Respiratory di... OMIM:608836
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Nocturnal hypoventilation, Reduced vital capacity, Frequent falls OMIM:603689
Bamforth-Lazarus Syndrome
Cleft palate, Polyhydramnios ORPHA:1226
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Respiratory failure, Nasal flaring, Atelectasis ORPHA:70587
Sandhoff Disease
Ataxia, Kyphosis ORPHA:796
Spinocerebellar Ataxia Type 3
Clumsiness, Vocal cord paralysis, Abnormality of extrapyramidal motor function, Progressive cereb... ORPHA:98757
Mitochondrial Dna Depletion Syndrome 11
Respiratory insufficiency, Spinal deformities, Kyphosis, Spinal rigidity, Dyspnea OMIM:615084
Boucher-Neuhauser Syndrome
Intention tremor, Ataxia, Spasticity, Gait ataxia, Abnormal upper motor neuron morphology OMIM:215470
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Pneumonia, Bronchiectasis, Chronic rhin... OMIM:618695
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Tachypnea, Apnea, Aplasia/Hypoplasia of the corpus callosum, H... ORPHA:2318
Avian Influenza
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Respiratory distress, Non... ORPHA:454836
Acromelic Frontonasal Dysostosis
Periventricular nodular heterotopia, Upper airway obstruction, Hypopituitarism, Gray matter heter... OMIM:603671
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Recurrent aspiration pneumonia, Intercostal muscle weakness, Respi... ORPHA:70
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Kyphosis, Tremor, Hypertonia, Hyperlordosis, Scoliosis, Blepharospasm OMIM:128100
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Intercostal muscle weakness, Respiratory insufficiency, Pulmonary arterial hypertension, Pachygyr... ORPHA:258
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Acute Lung Injury
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Respiratory failure, Dyspnea ORPHA:178320
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:164180
Acute Interstitial Pneumonia
Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Decreased DLCO, Nonproductive cough, Respiratory ... ORPHA:79126
Intellectual Disability-Developmental Delay-Contractures Syndrome
Oculomotor apraxia, Scoliosis, Kyphosis ORPHA:3454
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Polyhydramnios, Pleural effusion, Generalized edema OMIM:618773
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Pseudo-Torch Syndrome 2
Respiratory insufficiency, Polymicrogyria, Cerebral calcification, Gray matter heterotopia, Micro... OMIM:617397
Bethlem Myopathy 2
Scoliosis, Kyphosis OMIM:616471
Postencephalitic Parkinsonism
Involuntary movements, Babinski sign, Tremor by anatomical site, Rigidity, Abnormal respiratory s... ORPHA:97349
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Agenesis of corpus callosum, Lumbar hyperlordosis, Hydrocepha... ORPHA:370959
Mental Retardation, Autosomal Dominant 26
Cerebral palsy, Hypertonia, Scoliosis, Kyphosis OMIM:615834
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Stridor, Kyphoscoliosis, Fasciculations, Vocal cord paresis, Tremor, Polyminimyoclonus, Scoliosis OMIM:619574
Walker-Warburg Syndrome
Abnormal cortical gyration, Abnormality of neuronal migration, Absent septum pellucidum, Pachygyr... ORPHA:899
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Spinal deformities, Vocal cord paresis OMIM:607706
Familial Cervical Artery Dissection
Paralysis ORPHA:36382
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Scoliosis, Vocal cord paresis OMIM:614895
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Macrogyria, Confluent hyperintensity of cerebral white matter on MRI ORPHA:280210
Japanese Encephalitis
Paralysis, Opisthotonus, Weakness due to upper motor neuron dysfunction, Abnormal pattern of resp... ORPHA:79139
Hyperkalemic Periodic Paralysis
Death in infancy, Respiratory insufficiency, Cerebral palsy, Periodic hyperkalemic paralysis, Fas... ORPHA:682
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Periventricular heterotopia, Pachygyria, Short corpus callosum, Periventri... ORPHA:255138
3-Methylglutaconic Aciduria Type 7
Opisthotonus, Progressive extrapyramidal movement disorder, Choreoathetosis, Pneumothorax, Myoclo... ORPHA:445038
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Kyphosis OMIM:618234
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis OMIM:300434
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Mercury Poisoning
Interstitial pneumonitis, Respiratory distress, Abnormal cerebral white matter morphology, Respir... ORPHA:330021
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Babinski sign, Dysmetria, Ataxia, Spasticity, Abnormal upper motor neuron morpho... OMIM:607694
Brachyolmia Type 3
Platyspondyly, Spinal cord compression, Kyphosis, Short neck, Scoliosis OMIM:113500
Autosomal Recessive Spastic Paraplegia Type 53
Clonus, Upper limb hypertonia, Kyphosis ORPHA:319199
Autism Spectrum Disorder Due To Auts2 Deficiency
Cerebral palsy, Stereotypy, Repetitive compulsive behavior, Kyphosis, Hypertonia, Spasticity, Sco... ORPHA:352490
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Spasticity, Kyphosis ORPHA:2429
Progressive Non-Fluent Aphasia
Parkinsonism, Abnormality of extrapyramidal motor function, Abnormal lower motor neuron morpholog... ORPHA:100070
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormal lower motor neuron morphology, Respiratory insuff... ORPHA:93941
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Frequent falls, Kyphosis, Hyperlordosis, Restrictive ventilatory defect, Scoliosis OMIM:606612
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Frequent falls, Kyphosis, Nocturnal hypoventilation, Hyperlordosis, Restrictive... OMIM:607155
Leigh Syndrome With Cardiomyopathy
Neuronal loss in basal ganglia, Diffuse white matter abnormalities, Abnormal cerebral cortex morp... ORPHA:70474
Amyotrophic Lateral Sclerosis 21
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis, Aspiration, Abno... OMIM:606070
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Partial agenesis of the corpus callosum, Lissencephaly, Pachygyria, Hypoplasia of the corpus call... OMIM:614643
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration, Scoliosis, Cerebral cortical atrophy, Microcephaly ORPHA:2518
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Edema, Polyhydramnios, Facial edema, Protein-losing enteropathy, Lymphedema OMIM:618154
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Neonatal respiratory distress, Cerebral calcification, Pachygy... ORPHA:157
Sialidosis Type 2
Kyphosis, Tremor, Ataxia, Dyspnea, Umbilical hernia ORPHA:87876
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Myoclonus, Spasticity, Apraxia, Abnormal upper motor neuron morphology OMIM:221770
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Adult Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Abnormal blood gas level, Respiratory failure, Dyspnea ORPHA:70578
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Ataxia, Scoliosis, Kyphosis ORPHA:85317
Brain-Lung-Thyroid Syndrome
Clumsiness, Involuntary movements, Neonatal respiratory distress, Choreoathetosis, Chorea, Myoclo... ORPHA:209905
Laryngeal Abductor Paralysis
Vocal cord paralysis, Stridor OMIM:150260
Poliomyelitis
Paralysis, Fasciculations, Paraparesis, Hyperkinetic movements, Myelitis, Respiratory failure, Re... ORPHA:2912
Sjögren-Larsson Syndrome
Kyphosis, Spastic diplegia, Spasticity, Abnormal pyramidal sign, Scoliosis ORPHA:816
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Pulmonary edema, Lymphedema OMIM:617300
Poretti-Boltshauser Syndrome
Gray matter heterotopia, Abnormal periventricular white matter morphology OMIM:615960
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Vocal cord paralysis, Tracheomalacia, Respiratory insufficiency OMIM:615490
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Scoliosis, Scheuermann-like vertebral changes, Kyphosis OMIM:301900
Spinocerebellar Ataxia, X-Linked 3
Death in infancy, Head titubation, Episodic respiratory distress, Dysmetria, Episodic hypoventila... OMIM:301790
Recurrent Respiratory Papillomatosis
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... ORPHA:60032
Anaplastic Thyroid Carcinoma
Stridor, Vocal cord paralysis, Cough, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:142
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration, Microcephaly ORPHA:2772
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Restrictive ventilatory defect, Scoliosis, Kyphosis OMIM:618484
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis ORPHA:276630
Jaberi-Elahi Syndrome
Choreoathetosis, Dysmetria, Kyphosis, Tremor, Spasticity, Gait ataxia, Scoliosis OMIM:617988
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Ataxia, Scoliosis, Spasticity, Kyphosis OMIM:618443
Sandestig-Stefanova Syndrome
Respiratory failure, Hypoplasia of the corpus callosum, Primary microcephaly OMIM:618804
Scedosporiosis
Sinusitis, Bronchial breath sound, Abnormal respiratory system physiology, Pneumonia, Cough, Pleu... ORPHA:449280
Inhalational Botulism
Paralysis, Dyspnea ORPHA:254504
Fetal Akinesia Deformation Sequence 4
Short neck, Kyphosis OMIM:618393
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Subcortical white matter calcifications, Respiratory failure, Diffuse cerebral atrophy ORPHA:3240
Hall-Riggs Mental Retardation Syndrome
Intrauterine growth retardation, Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis OMIM:234250
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Crackles, Cough, Respiratory failure, Dyspnea ORPHA:99931
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Microcephaly OMIM:617008
Shashi-Pena Syndrome
Scoliosis, Kyphosis OMIM:617190
Desmosterolosis
Abnormal cortical gyration, Abnormality of neuronal migration, Absent septum pellucidum, Pachygyr... ORPHA:35107
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia, Paraplegia, Respiratory insufficiency due to muscle weakness, Voc... ORPHA:98897
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Non-midline cleft lip, Cleft palate, Lip pit ORPHA:1072
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Ataxia, Scoliosis, Kyphosis OMIM:300861
Arnold-Chiari Malformation Type I
Babinski sign, Myelopathy, Vocal cord paralysis, Cervical C2/C3 vertebral fusion, Syringomyelia, ... ORPHA:268882
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Limb hypertonia, Chorea, Abnormality of extrapyramidal motor function, Kyphosis, Spasticity, Abno... ORPHA:500180
Autosomal Recessive Ataxia, Beauce Type
Clumsiness, Babinski sign, Dysmetria, Lower limb spasticity, Fasciculations, Kyphosis, Ataxia, An... ORPHA:88644
Scapuloperoneal Spinal Muscular Atrophy
Stridor, Respiratory insufficiency, Torticollis, Kyphosis, Hyperlordosis, Scoliosis OMIM:181405
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Vertebral segmentation defect, Aplasia/Hypoplasia of the corpus callosum... ORPHA:531151
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration, Microcephaly, Abnormal cerebral white matter morphology OMIM:300957
Hemifacial Atrophy, Progressive
Ataxia, Kyphosis OMIM:141300
Niemann-Pick Disease, Type C2
Respiratory insufficiency, Cataplexy, Stereotypy, Ataxia, Spasticity, Respiratory failure OMIM:607625
Bruck Syndrome
Platyspondyly, Scoliosis, Respiratory insufficiency, Kyphosis ORPHA:2771
Renal Tubular Acidosis, Distal, 1
Periodic hypokalemic paresis, Periodic paralysis OMIM:179800
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis, Myoclonus ORPHA:83601
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, Neonatal respiratory distress, Cerebral calcification, Pachygy... ORPHA:228308
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Abnormal intervertebral disk morphology, Intrauterine growth retardation, Respirator... ORPHA:2311
Myopathy, Centronuclear, 2
Respiratory insufficiency due to muscle weakness, Scoliosis, Hyperlordosis, Kyphosis OMIM:255200
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Respiratory failure, Hyperlordosis, Cardiorespiratory arrest, Restrictiv... ORPHA:26791
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Neonatal respiratory distress, Butterfly vertebrae, Coronal cleft vertebrae, Periventricular hete... OMIM:618870
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis ORPHA:1875
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Mitochondrial Complex I Deficiency, Nuclear Type 15
Intrauterine growth retardation, Spastic tetraplegia, Kyphosis OMIM:618237
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Scoliosis, Umbilical hernia, Hemiplegia ORPHA:2181
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure, Respiratory distress, Dyspnea, Microcephaly ORPHA:2707
Gracile Bone Dysplasia
Aniridia, Hypoplastic spleen, Asplenia OMIM:602361
Combined Oxidative Phosphorylation Deficiency 3
Intrauterine growth retardation, Respiratory insufficiency, Tremor, Ataxia, Death in childhood, R... OMIM:610505
Pelizaeus-Merzbacher Disease
Respiratory insufficiency, Choreoathetosis, Kyphosis, Ataxia, Spasticity, Scoliosis ORPHA:702
X-Linked Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis, Respiratory insufficiency due to muscle weakness, Back pain, Kyphosis, Spin... ORPHA:98863
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Apnea, Kyphosis, Oculomotor apraxia, Hyperlordosis, Spasticity, Ap... OMIM:314580
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... ORPHA:308552
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Lower limb spasticity, Kyphosis, Ataxia, Spasticity, Scoliosis, Progressive spastic paraplegia ORPHA:464282
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Atlantoaxial instability, Kyphosis, Ovoid vertebral bodies, Cervical myelopathy, R... OMIM:183900
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia OMIM:165550
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Neonatal respiratory distress, Hypoplasia of the corpus callosum, Cerebral atrophy, Gray matter h... OMIM:618797
Rett Syndrome
Apnea, Kyphosis, Truncal ataxia, Spasticity, Gait ataxia, Scoliosis, Intermittent hyperventilatio... OMIM:312750
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Vocal cord paralysis, Myoclonus, Spasticity, Scoliosis, Neurogenic bladder ORPHA:500144
3C Syndrome
Abnormality of neuronal migration, Death in infancy, Hemivertebrae, Kyphosis, Hydrocephalus, Scol... ORPHA:7
4Q21 Microdeletion Syndrome
Intrauterine growth retardation, Kyphosis, Tremor, Stereotypy, Short neck, Scoliosis ORPHA:238750
Thanatophoric Dysplasia Type 1
Respiratory insufficiency, Platyspondyly, Kyphosis, Hydrocephalus, Gray matter heterotopia ORPHA:1860
Peripartum Cardiomyopathy
Paroxysmal dyspnea, Crackles, Pulmonary arterial hypertension, Exertional dyspnea, Orthopnea, Ast... ORPHA:563
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis ORPHA:2598
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Abnormality of neuronal migration, Pachygyria, Macrogyria, Exencephal... ORPHA:2211
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Kyphosis, Hypopla... ORPHA:2635
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Kyphosis ORPHA:1548
Li-Ghorbani-Weisz-Hubshman Syndrome
Hypoplasia of the corpus callosum, Periventricular heterotopia OMIM:618974
Infantile Krabbe Disease
Opisthotonus, Myoclonus, Lower limb spasticity, Decerebrate rigidity, Spastic diplegia, Respirato... ORPHA:206436
Glioblastoma
Paralysis ORPHA:360
Neu-Laxova Syndrome
Abnormal cortical gyration, Abnormality of neuronal migration, Absent septum pellucidum, Pachygyr... ORPHA:2671
Microcephalic Primordial Dwarfism, Montreal Type
Hypertonia, Vertebral segmentation defect, Scoliosis, Kyphosis ORPHA:2617
Weismann-Netter Syndrome
Scoliosis, Horizontal sacrum, Kyphosis OMIM:112350
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Spinal cord compression, Fused cervical vertebrae, Kyphosis, Hyperlordosis, Short neck ORPHA:2522
Radio-Renal Syndrome
Abnormal form of the vertebral bodies, Short neck, Respiratory distress, Respiratory failure, Dys... ORPHA:3015
Spondyloepiphyseal Dysplasia Congenita
Cervical instability, Abnormal respiratory system physiology, Laryngotracheomalacia, Spinal cord ... ORPHA:94068
Ullrich Congenital Muscular Dystrophy 1
Respiratory insufficiency, Torticollis, Respiratory insufficiency due to muscle weakness, Kyphosi... OMIM:254090
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure, Hypoplasia of the corpus callosum, Hyperintensity of cerebral white matter o... ORPHA:88618
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Alg11-Cdg
Cerebral atrophy, Cerebral white matter atrophy, Abnormal cerebral white matter morphology, Gray ... ORPHA:280071
Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis, Respiratory insufficiency due to muscle weakness, Back pain, Kyphosis, Spin... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis, Respiratory insufficiency due to muscle weakness, Back pain, Kyphosis, Spin... ORPHA:98853
Ck Syndrome
Scoliosis, Hyperlordosis, Kyphosis OMIM:300831
Joubert Syndrome 30
Tachypnea, Apnea, Gray matter heterotopia OMIM:617622
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Aplasia/Hypoplasia of the corpus callosum, Lissencephaly, Hydrocephalus OMIM:617822
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Vici Syndrome
Gray matter heterotopia, Death in infancy, Agenesis of corpus callosum, Cerebral cortical atrophy ORPHA:1493
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Hypoplasia of the corpus callosum, Apnea, Microcephaly OMIM:617301
Diastrophic Dysplasia
Intrauterine growth retardation, Respiratory insufficiency, Abnormal form of the vertebral bodies... ORPHA:628
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Pachygyria, Microcephaly, Aqueductal stenosis ORPHA:2065
Paragangliomas 2
Vocal cord paralysis OMIM:601650
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Subaortic Stenosis-Short Stature Syndrome
Short neck, Scoliosis, Respiratory insufficiency, Kyphosis ORPHA:3191
Neurocutaneous Melanocytosis
Meningocele, Abnormality of neuronal migration, Death in infancy ORPHA:2481
Mucopolysaccharidosis, Type Iva
Cervical subluxation, Platyspondyly, Kyphosis, Ovoid vertebral bodies, Cervical myelopathy, Hyper... OMIM:253000
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration, Abnormal pattern of respiration, Apnea, Aplasia/Hypoplasia of ... ORPHA:1454
Coffin-Lowry Syndrome
Abnormality of neuronal migration, Abnormal form of the vertebral bodies, Kyphosis, Microcephaly,... ORPHA:192
Leigh Syndrome
Involuntary movements, Athetosis, Intrauterine growth retardation, Abnormal pattern of respiratio... ORPHA:506
Mucopolysaccharidosis, Type Ivb
Cervical subluxation, Platyspondyly, Kyphosis, Ovoid vertebral bodies, Cervical myelopathy, Hyper... OMIM:253010
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis, Neonatal inspiratory stridor ORPHA:684
Charcot-Marie-Tooth Disease Type 4B2
Respiratory insufficiency, Vocal cord paralysis, Kyphoscoliosis, Tremor, Poor fine motor coordina... ORPHA:99956
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis OMIM:617061
Kleefstra Syndrome 2
Scoliosis, Kyphosis OMIM:617768
Otopalatodigital Syndrome, Type Ii
Respiratory insufficiency, Platyspondyly, Stillbirth, Hydrocephalus, Respiratory failure OMIM:304120
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Baralle-Macken Syndrome
Spasticity, Kyphosis OMIM:619255
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Lymphangiectasia, Pulmonary, Congenital
Nonimmune hydrops fetalis, Ascites, Edema, Facial edema, Polyhydramnios, Palpebral edema, Pedal e... OMIM:265300
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Spastic paraplegia, Scoliosis, Exaggerated startle response, Kyphosis OMIM:609541
Myasthenic Syndrome, Congenital, 20, Presynaptic
Stridor, Apnea, Kyphosis, Hypoventilation, Scoliosis OMIM:617143
Aicardi Syndrome
Dilated third ventricle, Partial agenesis of the corpus callosum, Butterfly vertebrae, Hemiverteb... OMIM:304050
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency OMIM:613845
Bickerstaff Brainstem Encephalitis
Babinski sign, Pneumonia, Hypercapnia, Tetraplegia, Ataxia, Facial paralysis, Tetraparesis, Respi... ORPHA:79138
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress OMIM:617895
Mental Retardation, Autosomal Dominant 57
Scoliosis, Kyphosis OMIM:618050
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Kyphosis, Short neck, Scoliosis, Lumbar hyperlordosis, Hump-shaped mound of bone i... OMIM:313400
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Gm1-Gangliosidosis, Type I
Death in infancy, Intrauterine growth retardation, Beaking of vertebral bodies, Kyphosis, Hyperto... OMIM:230500
Renal Dysplasia-Limb Defects Syndrome
Intrauterine growth retardation, Pneumothorax, Neonatal death, Respiratory distress, Respiratory ... OMIM:266910
16P13.11 Microdeletion Syndrome
Holoprosencephaly, Abnormality of neuronal migration, Agenesis of corpus callosum, Microcephaly ORPHA:261236
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Scoliosis, Hyperlordosis, Kyphosis OMIM:615761
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Kyphosis OMIM:130060
Marinesco-Sjogren Syndrome
Kyphosis, Ataxia, Spasticity, Limb ataxia, Gait ataxia, Scoliosis OMIM:248800
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal coloboma, Optic disc ... OMIM:120200
Riddle Syndrome
Pneumonia, Chronic sinusitis, Respiratory failure, Recurrent pneumonia, Abnormal cerebral white m... ORPHA:420741
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Van Maldergem Syndrome 1
Subcortical band heterotopia, Periventricular nodular heterotopia, Simplified gyral pattern, Pach... OMIM:601390
Mucolipidosis Iii Gamma
Short neck, Scoliosis, Hyperlordosis, Kyphosis OMIM:252605
Vocal Cord And Pharyngeal Distal Myopathy
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis, Aspiration, Voca... ORPHA:600
6Q Terminal Deletion Syndrome
Abnormality of neuronal migration, Abnormal cerebral cortex morphology, Colpocephaly, Periventric... ORPHA:75857
Porphyria, Acute Intermittent
Paralysis, Respiratory paralysis OMIM:176000
Achondroplasia
Hypoxemia, Spinal canal stenosis, Obstructive sleep apnea, Central sleep apnea, Kyphosis, Thoraco... ORPHA:15
Congenital Multicore Myopathy With External Ophthalmoplegia
Respiratory failure, Scoliosis, Abnormal respiratory system physiology, Pneumonia ORPHA:98905
Pulmonary Alveolar Microlithiasis
Restrictive ventilatory defect, Hypoxemia, Respiratory insufficiency, Bronchiectasis, Tachypnea, ... ORPHA:60025
Car T Cell Therapy-Associated Cytokine Release Syndrome
Respiratory failure, Hypoxemia, Tachypnea, Pleural effusion ORPHA:542323
Sialidosis Type 1
Myoclonus, Abnormal form of the vertebral bodies, Kyphosis, Tremor, Ataxia, Slurred speech, Scoli... ORPHA:812
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Babinski sign, Respiratory insufficiency, Frequent falls ORPHA:746
Typical Nemaline Myopathy
Respiratory insufficiency, Kyphosis, Spinal rigidity, Nocturnal hypoventilation, Hyperlordosis, S... ORPHA:171436
Thyrotoxic Periodic Paralysis, Susceptibility To, 2