Gene Summary

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

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
persistence of hyaloid vascular system Top2bem1(IMPC)Mbp HET Early adult 2.13×10-07
abnormal spleen morphology Top2bem1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Top2bem1(IMPC)Mbp HOM E15.5 0.00
abnormal craniofacial morphology Top2bem1(IMPC)Mbp HOM E15.5 0.00
embryonic growth retardation Top2bem1(IMPC)Mbp HOM E15.5 0.00
cleft palate Top2bem1(IMPC)Mbp HOM E15.5 0.00
abnormal eye morphology Top2bem1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Top2bem1(IMPC)Mbp HOM   Early adult 0.00
edema Top2bem1(IMPC)Mbp HOM E15.5 0.00
small spleen Top2bem1(IMPC)Mbp HET Early adult 0.00
abnormal head shape Top2bem1(IMPC)Mbp HOM E15.5 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Gross Morphology Embryo E14.5-E15.5

Images

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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
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