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 |
|
|