| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Limb-girdle muscle weakness, Flexion contracture, Proximal muscle weakness, Gowers sign, Favorabl... |
ORPHA:353327 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Proximal muscle weakness, Kyphosis, Optic atrophy, Foot dorsiflexor weakness, Scoliosis, Difficul... |
OMIM:617087 |
| Myasthenic Syndrome, Congenital, 5 |
|
Hyperlordosis, Generalized muscle weakness, Decreased muscle mass, Ophthalmoparesis, Fatigable we... |
OMIM:603034 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Generalized muscle weakness, Ophthalmoparesis, Gowers sign, Neck muscle weakness, Weakness of fac... |
OMIM:608930 |
| Pure Mitochondrial Myopathy |
|
Fatigable weakness of bulbar muscles, Neck flexor weakness, Proximal muscle weakness, Exercise-in... |
ORPHA:254854 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Spondylolysis, Spondylolisthesis at L5-S1, Lumbar hyperlordosis, Atlantoaxial dislocation, Bulbar... |
OMIM:600561 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Myasthenic Syndrome, Congenital, 13 |
|
Muscle fiber tubular inclusions, Fatigable weakness, Proximal muscle weakness, Scoliosis |
OMIM:614750 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Proximal muscle weakness, Spinal rigidity, Scoliosis, Poor head control, Respiratory failure, Res... |
OMIM:300717 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Generalized muscle weakness, Ophthalmoparesis, Ventilator dependence w... |
ORPHA:254875 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Upper limb muscle weakness, Facial palsy, Weakness of long finger extensor muscles, Triceps weakn... |
ORPHA:98913 |
| Desminopathy |
|
Fatigable weakness of bulbar muscles, Neck flexor weakness, Fatigable weakness of respiratory mus... |
ORPHA:98909 |
| Charcot-Marie-Tooth Disease Type 1A |
|
Paresthesia, Gait imbalance, Calf muscle hypertrophy, Decreased motor nerve conduction velocity, ... |
ORPHA:101081 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Lower limb muscle weakness, Kyphosis, Gait disturbance, Skeletal muscle atrophy, Scoliosis |
OMIM:611225 |
| Myopathy, Scapulohumeroperoneal |
|
Hyperlordosis, Neck flexor weakness, Wrist drop, Progressive muscle weakness, Scoliosis, Foot dor... |
OMIM:616852 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Generalized muscle weakness, Lower limb muscle weakness, Hand muscle atrophy, Fatigable weakness,... |
OMIM:601462 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Respiratory insufficiency, Proximal muscle weakness, Reduced maximal inspiratory pressure, Abnorm... |
ORPHA:266 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Knee flexion contracture, Hyperlordosis, Hip contracture, Spinal muscular atrophy, Kyphosis, Dist... |
OMIM:600175 |
| Nemaline Myopathy 7 |
|
Knee flexion contracture, Fatty replacement of skeletal muscle, Gowers sign, Shoulder girdle musc... |
OMIM:610687 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Knee flexion contracture, Hyperlordosis, Hip contracture, Spinal muscular atrophy, Kyphosis, Lowe... |
OMIM:615290 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory insufficiency, Respiratory distress, Diaphragmatic paralysis, Failure to thrive, Diap... |
OMIM:614399 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Gait disturbance, Ataxia, Impaired pain sensation, Distal muscle weakness, Decreased ne... |
ORPHA:101078 |
| Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Generalized muscle weakness, Prolonged miniature endplate currents, Loss of ambulation, Decreased... |
OMIM:616321 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Abnormal peripheral action potential amplitude, Tremor, Abnormality of the ... |
ORPHA:90117 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Proximal muscle weakness, Multiple joint contractures, Rhabdomyolysis, Ophthalmoplegia, Fatigable... |
ORPHA:424107 |
| Duchenne Muscular Dystrophy |
|
Respiratory insufficiency, Proximal muscle weakness, Scoliosis, Progressive muscle weakness |
ORPHA:98896 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Kyphosis, Paucity of anterior horn motor neurons, Facial diplegia, Short neck, Scoliosis, Respira... |
OMIM:611890 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Wrist flexion contracture, Distal upper limb muscle weakness, Distal lower limb amyotrophy, Calf ... |
OMIM:616668 |
| Muscular Dystrophy, Congenital, 1B |
|
Gowers sign, Spinal rigidity, Diaphragmatic weakness, Respiratory failure, Shoulder girdle muscle... |
OMIM:604801 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Limb-girdle muscle weakness, Progressive distal muscle weakness, Facial diplegia, Neck muscle wea... |
ORPHA:399058 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
| Nemaline Myopathy 4 |
|
Flexion contracture, Gowers sign, Type 1 muscle fiber predominance, Facial diplegia, Nemaline bod... |
OMIM:609285 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Ophthalmoparesis, Fatigable weakness, Bulbar palsy, Myopathy, Type 2 muscle fiber atrophy, Decrea... |
OMIM:605809 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity, Kyphosis, Distal lower limb amyotrophy, Gait disturbance, Ata... |
ORPHA:101075 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Ophthalmoparesis, Fatigable weakness, Type 2 muscle fiber atrophy, Decreased miniature endplate p... |
OMIM:254210 |
| Oculopharyngodistal Myopathy |
|
Tibialis muscle weakness, Fatigable weakness of bulbar muscles, Distal upper limb muscle weakness... |
ORPHA:98897 |
| Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency |
|
Respiratory insufficiency, Increased muscle fatiguability, Facial palsy |
OMIM:616323 |
| Distal Nebulin Myopathy |
|
Neck flexor weakness, Exertional dyspnea, Progressive distal muscle weakness, Foot dorsiflexor we... |
ORPHA:399103 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Proximal muscle weakness, Decreased motor nerve conduction velocity, Kyphoscoliosis, Distal muscl... |
OMIM:605588 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Hyperlordosis, Increased variability in muscle fiber diameter, Flexion contracture, Proximal musc... |
OMIM:300718 |
| Laing Early-Onset Distal Myopathy |
|
Weakness of orbicularis oculi muscle, Progressive muscle weakness, Distal muscle weakness, Scolio... |
ORPHA:59135 |
| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Limb-girdle muscle weakness, Generalized muscle weakness, Wrist drop, Ankle weakness, Foot dorsif... |
ORPHA:98912 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Progressive proximal muscle weakness, Restrictive ventilatory defect, Scoliosis, Exercise-induced... |
ORPHA:369847 |
| Roussy-Lévy Syndrome |
|
Gait ataxia, Somatic sensory dysfunction, Lower limb muscle weakness, Decreased motor nerve condu... |
ORPHA:3115 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Hyperlordosis, Proximal muscle weakness, Tip-toe gait, Kyphosis, Gowers sign, Spinal rigidity, Ga... |
OMIM:617404 |
| Myasthenic Syndrome, Congenital, 12 |
|
Ophthalmoparesis, Gowers sign, Fatigable weakness, Neck muscle weakness, Waddling gait, Proximal ... |
OMIM:610542 |
| Multifocal Motor Neuropathy |
|
Progressive muscle weakness, Limb muscle weakness, Progressive distal muscle weakness, Motor cond... |
ORPHA:641 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Flexion contracture, Generalized amyotrophy, Kyphosis, Spinal rigidity, Myopathy, Decreased compo... |
OMIM:618323 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Respiratory insufficiency, Reduced forced vital capacity, Progressive muscle weakness, Failure to... |
OMIM:619518 |
| Bethlem Myopathy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Proximal muscle weakness, Ky... |
OMIM:616471 |
| Myasthenic Syndrome, Congenital, 14 |
|
Knee flexion contracture, Hyperlordosis, Limb-girdle muscle weakness, Increased variability in mu... |
OMIM:616228 |
| Autosomal Recessive Centronuclear Myopathy |
|
Respiratory insufficiency, Hyperlordosis, Ophthalmoparesis, Gowers sign, Ophthalmoplegia, Facial ... |
ORPHA:169186 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Proximal muscle weakness, Calf muscle hypertrophy, Elbow contracture, Shoulder girdle muscle atro... |
OMIM:606612 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Abnormal nerve conduction velocity, Kyphosis, Optic atrophy, Gait disturbance, Ataxia, Impaired p... |
ORPHA:99014 |
| Myasthenic Syndrome, Congenital, 10 |
|
Ophthalmoparesis, Gowers sign, Fatigable weakness, Bulbar palsy, Weakness of facial musculature, ... |
OMIM:254300 |
| Synaptic Congenital Myasthenic Syndromes |
|
Proximal muscle weakness, Unfavorable response of muscle weakness to acetylcholine esterase inhib... |
ORPHA:98915 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Increased variability in muscle fiber diameter, Neck flexor weakness, Kyphosis, Calf muscle hyper... |
OMIM:618138 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Failure to thrive, Muscle weakness, Respiratory failure |
OMIM:616081 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Recurrent aspiration pneumonia, Lower limb muscle weakness, Abnormal lower motor neuron morpholog... |
ORPHA:2590 |
| Myopathy, Centronuclear, 2 |
|
Hyperlordosis, Flexion contracture, Proximal muscle weakness, Centrally nucleated skeletal muscle... |
OMIM:255200 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Proximal muscle weakness, Lumbar hyperlordosis, Shoulder girdle muscle weakness, Pelvi... |
OMIM:167320 |
| Charcot-Marie-Tooth Disease Type 4D |
|
Somatic sensory dysfunction, Distal upper limb muscle weakness, Upper limb amyotrophy, Proximal m... |
ORPHA:99950 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Proximal muscle weakness, Failure to thrive, Muscle weakness, Dyspnea, Increased muscle fatiguabi... |
OMIM:618250 |
| Congenital Myopathy 14 |
|
Generalized muscle weakness, Proximal muscle weakness, Axial muscle weakness, Apnea, Respiratory ... |
OMIM:618414 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Limb-girdle muscle weakness, Neuropathic spinal arthropathy, Fatigable... |
ORPHA:370968 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Hyperlordosis, Muscle fiber splitting, Progressive distal muscular atrophy, Peroneal muscle atrop... |
OMIM:181405 |
| Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory insufficiency, Respiratory failure |
OMIM:208081 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Lower limb muscle weakness, Abnormal lower motor neuron morphology, Muscle weakness, Amyotrophic ... |
OMIM:613954 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Central apnea, Respiratory failure, Death in infancy |
OMIM:611722 |
| Scheuermann Disease |
|
Morbus Scheuermann, Kyphosis |
OMIM:181440 |
| Spinal Muscular Atrophy, Type I |
|
Respiratory insufficiency, Proximal muscle weakness in lower limbs, Respiratory failure, Poor hea... |
OMIM:253300 |
| Amyotrophic Lateral Sclerosis 8 |
|
Progressive muscle weakness, Distal muscle weakness, Proximal muscle weakness, Amyotrophic latera... |
OMIM:608627 |
| Immunoneurologic Disorder, X-Linked |
|
Small for gestational age, Progressive proximal muscle weakness, Neonatal death |
OMIM:300076 |
| Adenosine Monophosphate Deaminase Deficiency |
|
Limb muscle weakness, Exercise-induced muscle fatigue |
ORPHA:45 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Distal Anoctaminopathy |
|
Progressive muscle weakness, Progressive proximal muscle weakness, Distal lower limb muscle weakn... |
ORPHA:399096 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Ophthalmoplegia, Ataxia, Impaired pain sensation, Distal muscle weakness, Loss of ambul... |
OMIM:618124 |
| Hypokalemic Periodic Paralysis |
|
Late-onset proximal muscle weakness, Fatigable weakness of respiratory muscles, Respiratory paral... |
ORPHA:681 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology |
DECIPHER:29 |
| Apnea, Central Sleep |
|
Cyanosis, Sleep apnea, Abnormal pattern of respiration, Irregular respiration |
OMIM:207720 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
| Nemaline Myopathy 8 |
|
Respiratory failure, Death in infancy, Facial palsy |
OMIM:615348 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure, Muscle weakness, Amyotrophic lateral sclerosis |
OMIM:613435 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Degeneration of anterior horn cells, Small for gestational age, Ventilator dependence with inabil... |
OMIM:604320 |
| Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Muscle weakness, Increased muscle fatiguability |
OMIM:615511 |
| Phosphoserine Aminotransferase Deficiency |
|
Apnea, Cyanotic episode, Death in infancy |
OMIM:610992 |
| Typical Nemaline Myopathy |
|
Limb-girdle muscle weakness, Flexion contracture, Facial diplegia, Nemaline bodies, Short neck, A... |
ORPHA:171436 |
| Distal Myopathy With Anterior Tibial Onset |
|
Tibialis muscle weakness, Progressive proximal muscle weakness, Limb-girdle muscle weakness, Neck... |
ORPHA:178400 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory insufficiency, Apnea, Respiratory failure, Death in infancy |
OMIM:613869 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hyperlordosis, Gowers sign, Progressive muscle weakness, Failure to thrive, Muscle weakness, Rest... |
OMIM:600462 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory insufficiency, Kyphosis, Respiratory distress, Progressive muscle weakness, Failure t... |
OMIM:615512 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Hyperlordosis, Fatigable weakness of bulbar muscles, Generalized muscle weakness, Aspiration pneu... |
ORPHA:2020 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Distal upper limb muscle weakness, Oculomotor nerve palsy, Decreased distal sensory nerve action ... |
OMIM:606071 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Generalized muscle weakness, Kyphosis, Spinal rigidity, Diaphragmatic weakness, Muscle weakness, ... |
ORPHA:75840 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hyperlordosis, Proximal muscle weakness, Exercise-induced muscle fatigue, Fatigable weakness of n... |
ORPHA:26791 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Generalized muscle weakness, Fatty replacement of skeletal muscle, Tip-toe gait, Congenital muscu... |
ORPHA:370980 |
| Myopathy, Myofibrillar, 4 |
|
Progressive muscle weakness, Progressive proximal muscle weakness, Progressive distal muscle weak... |
OMIM:609452 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
| Rigid Spine Syndrome |
|
Respiratory insufficiency, Hyperlordosis, Gowers sign, Spinal rigidity, Scoliosis, Poor head cont... |
ORPHA:97244 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Respiratory insufficiency, Lower limb muscle weakness, Muscle weakness, Distal muscle weakness, S... |
OMIM:619042 |
| Marinesco-Sjogren Syndrome |
|
Progressive muscle weakness, Failure to thrive, Scoliosis, Kyphosis |
OMIM:248800 |
| Pontocerebellar Hypoplasia Type 1 |
|
Congenital laryngeal stridor, Optic atrophy, Degeneration of anterior horn cells, Failure to thri... |
ORPHA:2254 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Thoracolumbar scoliosis, Respiratory insufficiency, Kyphosis, Platyspondyly, Respiratory failure |
OMIM:313420 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure, Distal muscle weakness, Proximal muscle weakness, External ophthalmoplegia |
OMIM:618637 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Respiratory failure, Aspiration pneumonia, Optic atrophy, Small for gestational age, Neonatal res... |
OMIM:619057 |
| Arts Syndrome |
|
Progressive muscle weakness, Spinal cord posterior columns myelin loss, Optic atrophy |
OMIM:301835 |
| Parastremmatic Dwarfism |
|
Short neck, Flexion contracture, Scoliosis, Kyphosis |
OMIM:168400 |
| Proximal Spinal Muscular Atrophy |
|
Distal upper limb muscle weakness, Respiratory failure, Hypoventilation, Proximal muscle weakness... |
ORPHA:70 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure, Cheyne-Stokes respiration |
OMIM:618328 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Inability to walk, Ataxia, Waddling gait, Scoliosis, Obesity, Broad-based gait, Lumbar ... |
OMIM:616756 |
| Amish Nemaline Myopathy |
|
Progressive muscle weakness, Respiratory insufficiency due to muscle weakness |
ORPHA:98902 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
| Nemaline Myopathy 5 |
|
Respiratory insufficiency, Progressive muscle weakness |
OMIM:605355 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Respiratory insufficiency, Hyperlordosis, Generalized muscle weakness, Neck flexor weakness, Prox... |
OMIM:161800 |
| Bethlem Myopathy |
|
Limb-girdle muscle weakness, Hypoventilation, Reduced maximal expiratory pressure, Gowers sign, S... |
ORPHA:610 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Increased variability in muscle fiber diameter, Flexion contracture, Proximal muscle weakness, Ce... |
OMIM:618484 |
| Myopathy And Diabetes Mellitus |
|
Weakness of orbicularis oculi muscle, Respiratory distress, Pelvic girdle muscle weakness, Progre... |
ORPHA:2596 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Limb-girdle muscle weakness, Generalized muscle weakness, Exertional dyspnea, Gowers sign, Pelvic... |
ORPHA:254361 |
| Sandhoff Disease |
|
Muscle weakness, Kyphosis, Failure to thrive, Ataxia |
ORPHA:796 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Proximal muscle weakness, Kyphosis, Ophthalmoparesis, Fatigable weakness, Neck muscle weakness, M... |
OMIM:617143 |
| Perching Syndrome |
|
Cyanosis, Respiratory distress |
OMIM:617055 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Knee flexion contracture, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
OMIM:616313 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Impaired distal vibration sensation, Proximal muscle weakness, Decreased motor nerve conduction v... |
OMIM:145900 |
| Infantile Refsum Disease |
|
Progressive muscle weakness, Failure to thrive, Optic atrophy, Facial palsy |
ORPHA:772 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Respiratory distress, Cough, Respiratory failure, Tachypnea |
OMIM:263000 |
| Laryngotracheal Angioma |
|
Cyanosis, Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing |
ORPHA:137935 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Neck flexor weakness, Proximal muscle weakness, Nocturnal hypoventilation, Pelvic girdle muscle w... |
OMIM:603689 |
| Peroxisome Biogenesis Disorder 11B |
|
Progressive muscle weakness, Muscle weakness |
OMIM:614885 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Dimethylglycine Dehydrogenase Deficiency |
|
Increased muscle fatiguability |
ORPHA:243343 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormal motor neuron morphology, Head tremor, Torticollis, Intention tremor |
OMIM:613724 |
| Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
| Immunodeficiency 95 |
|
Respiratory failure, Respiratory distress, Recurrent viral pneumonia |
OMIM:619773 |
| Myopathic Ehlers-Danlos Syndrome |
|
Foot joint contracture, Flexion contracture, Proximal muscle weakness, Multiple joint contracture... |
ORPHA:536516 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased motor nerve conduction velocity, Kyphoscoliosis, Limb muscle weakness, Distal muscle we... |
OMIM:118220 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Progressive external ophthalmoplegia, Restrictive ventilatory defect, Progressive proximal muscle... |
ORPHA:663 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:98855 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Hyperlordosis, Vertebral fusion, Proximal muscle weakness, Tip-toe gait, Kyphosis, Calf muscle hy... |
OMIM:607155 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Gait ataxia, Decreased motor nerve conduction velocity, Kyphoscoliosis, Distal muscle weakness, D... |
OMIM:180800 |
| Multiminicore Myopathy |
|
Respiratory insufficiency, External ophthalmoplegia, Spinal rigidity, Failure to thrive, Distal m... |
ORPHA:598 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:98863 |
| Neuralgic Amyotrophy |
|
Respiratory insufficiency, Acrocyanosis |
ORPHA:2901 |
| Dimethylglycine Dehydrogenase Deficiency |
|
Increased muscle fatiguability |
OMIM:605850 |
| Cryptogenic Organizing Pneumonia |
|
Cyanosis, Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect... |
ORPHA:1302 |
| Amyotrophic Lateral Sclerosis |
|
Fatigable weakness of bulbar muscles, Generalized muscle weakness, Motor neuron atrophy, Fatigabl... |
ORPHA:803 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Facial myokymia, Failure to thrive, Ataxia |
OMIM:620007 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased motor nerve conduction velocity, Kyphoscoliosis, Distal muscle weakness, Foot dorsiflex... |
OMIM:604563 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Respiratory insufficiency, Generalized muscle weakness, Proximal muscle weakness, Ophthalmoplegia... |
OMIM:255310 |
| Erythrocyte Lactate Transporter Defect |
|
Exercise-induced muscle fatigue |
OMIM:245340 |
| Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:98853 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness |
OMIM:611067 |
| Tubular Aggregate Myopathy |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Fatig... |
ORPHA:2593 |
| Asbestos Intoxication |
|
Cyanosis, Exertional dyspnea, Late inspiratory crackles, Hypoxemia, Reduced forced vital capacity... |
ORPHA:2302 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased motor nerve conduction velocity, Kyphoscoliosis, Limb muscle weakness, Distal muscle we... |
OMIM:118200 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:2744 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Progressive external ophthalmoplegia, Increased muscle fatiguability |
OMIM:613077 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Cyanosis, Pulmonary arterial hypertension, Death in infancy, Apnea, Dyspnea, Respiratory failure,... |
OMIM:265120 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Proximal muscle weakness, Decreased motor nerve conduction velocity, Kyphoscoliosis, Distal muscl... |
OMIM:607831 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure, Short neck, Dyspnea, Respiratory distress |
ORPHA:1832 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea, Respiratory failure, Dystonia, Death in infancy |
OMIM:616277 |
| Distal Myotilinopathy |
|
Progressive proximal muscle weakness, Progressive distal muscle weakness |
ORPHA:98911 |
| Hyperekplexia 4 |
|
Respiratory failure, Kyphoscoliosis |
OMIM:618011 |
| Myopathy, Myofibrillar, 6 |
|
Respiratory insufficiency, Generalized muscle weakness, Proximal muscle weakness, Lower limb musc... |
OMIM:612954 |
| Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness |
OMIM:615515 |
| Stormorken Syndrome |
|
Epistaxis, Proximal muscle weakness, Increased muscle fatiguability |
OMIM:185070 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure, Muscle weakness |
OMIM:616794 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Gait ataxia, Kyphosis, Limb ataxia, Ataxia, Dysmetria, Scoliosis |
OMIM:610743 |
| Cdkl5-Deficiency Disorder |
|
Kyphosis, Gait disturbance, Impaired pain sensation, Scoliosis, Difficulty walking, Poor head con... |
ORPHA:505652 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Choreoathetosis, Dystonia, Central apnea |
ORPHA:71277 |
| Vacterl Association With Hydrocephalus |
|
Respiratory insufficiency, Aqueductal stenosis, Hydrocephalus, Abnormal vertebral morphology, Sti... |
OMIM:276950 |
| Tibial Muscular Dystrophy |
|
Distal upper limb muscle weakness, Ankle weakness, Foot dorsiflexor weakness, Quadriceps muscle w... |
ORPHA:609 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Impaired proprioception, Upper limb hypertonia, Failure to thrive, Impaired vibratory s... |
ORPHA:319199 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory insufficiency, Proximal muscle weakness, External ophthalmoplegia, Kyphosis, Nocturna... |
OMIM:211530 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Hyperlordosis, Kyphosis, Vertebral wedging, Ovoid vertebral bodies, Scoliosis, Beaking of vertebr... |
ORPHA:40 |
| Brown-Vialetto-Van Laere Syndrome 2 |
|
Generalized amyotrophy, Optic atrophy, Ataxia, Neck muscle weakness, Kyphoscoliosis, Scoliosis, B... |
OMIM:614707 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Progressive muscle weakness |
OMIM:619024 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Impaired vibration sensation in the lower limbs, Kyphosis, Lower limb muscle weakness, Spastic ga... |
OMIM:614409 |
| Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency |
|
Generalized muscle weakness, Ophthalmoplegia, Gowers sign, Fatigable weakness, Neck muscle weakne... |
OMIM:616325 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Optic disc pallor, Death in infancy |
OMIM:618240 |
| Idiopathic Camptocormia |
|
Fatty replacement of skeletal muscle, Spinal canal stenosis, Proximal spinal muscular atrophy, EM... |
ORPHA:1320 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Proximal muscle weakness, Ky... |
OMIM:254090 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Death in infancy |
OMIM:225753 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Progressive external ophthalmoplegia, Progressive muscle weakness, Failure to thrive, Limb muscle... |
OMIM:610131 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Progressive muscle weakness, Limb muscle weakness, Proximal muscle weakness, Progressive external... |
OMIM:609286 |
| Intermediate Nemaline Myopathy |
|
Generalized muscle weakness, Ophthalmoplegia, Facial diplegia, Respiratory failure, Facial palsy |
ORPHA:171433 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity, Progressive external ophthalmoplegia, ... |
ORPHA:352447 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Small for gestational age, Decreased body weight, Kyphosis, Waddling gait |
OMIM:618392 |
| Metatropic Dysplasia |
|
Respiratory insufficiency, Relatively short spine, Kyphosis, Caudal appendage, Hypoplasia of the ... |
OMIM:156530 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Respiratory insufficiency, Neonatal death, Respiratory failure, Apnea |
OMIM:610127 |
| Chronic Pneumonitis Of Infancy |
|
Cyanosis, Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress... |
ORPHA:91359 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Congenital fibrosis of extraocular muscles, Restrictive partial external ophthalmoplegia, Kyphosis |
OMIM:609384 |
| Dk1-Cdg |
|
Progressive muscle weakness, Failure to thrive |
ORPHA:91131 |
| Creatine Phosphokinase, Elevated Serum |
|
Increased muscle fatiguability |
OMIM:123320 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired distal vibration sensation, First dorsal interossei muscle weakness, Centrally nucleated... |
OMIM:619574 |
| Laryngotracheoesophageal Cleft |
|
Cyanosis, Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress |
ORPHA:2004 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Gait disturbance, Ataxia, Muscle weakness, Scoliosis |
ORPHA:85317 |
| Gm1-Gangliosidosis, Type Iii |
|
Anterior beaking of lumbar vertebrae, Kyphosis, Ataxia, Skeletal muscle atrophy, Scoliosis, Platy... |
OMIM:230650 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Cyanosis, Respiratory failure, Exertional dyspnea, Death in infancy, Hypoxemia, Respiratory distr... |
OMIM:610921 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ... |
OMIM:602099 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Somatic sensory dysfunction, Progressive distal muscular atrophy, Muscular dystrophy, Ataxia, Kyp... |
ORPHA:459033 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Knee flexion contracture, Generalized muscle weakness, Hip contracture, Spinal muscular atrophy, ... |
ORPHA:1145 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Respiratory distress |
ORPHA:91130 |
| Brachyolmia Type 1, Hobaek Type |
|
Back pain, Intervertebral space narrowing, Kyphosis, Squared-off platyspondyly, Short neck, Scoli... |
OMIM:271530 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Abnormality of peripheral nerve conduction, Paresthesia, Abnormality of ... |
ORPHA:48431 |
| Leigh Syndrome |
|
Respiratory insufficiency, Optic atrophy, Ophthalmoplegia, Failure to thrive, Abnormal pattern of... |
OMIM:256000 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Muscle weakness, Exercise-induced muscle fatigue |
ORPHA:713 |
| Pneumocystosis |
|
Respiratory insufficiency, Exertional dyspnea, Interstitial pneumonitis, Hypoxemia, Pleural effus... |
ORPHA:723 |
| Muscular Dystrophy, Duchenne Type |
|
Hyperlordosis, Hypoventilation, Gowers sign, Muscle weakness, Restrictive ventilatory defect, Sco... |
OMIM:310200 |
| Hepatic Veno-Occlusive Disease |
|
Respiratory failure, Jaundice |
ORPHA:890 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Congenital muscular dystrophy, Gait disturbance, Kyphosis |
ORPHA:1875 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Proximal muscle weakness, External ophthalmoplegia, Abnormal respiratory system physiology, Facia... |
ORPHA:98905 |
| Osteomesopyknosis |
|
Sclerotic vertebral body, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
| Corticosteroid-Binding Globulin Deficiency |
|
Increased muscle fatiguability |
OMIM:611489 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Progressive proximal muscle weakness, Progressive distal muscle weakness |
ORPHA:399086 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Cyanosis, Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Interstitia... |
OMIM:610913 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Respiratory insufficiency, Failure to thrive, Poor head control, Respiratory failure, Neonatal de... |
OMIM:245400 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Flexion contracture, Kyphosis, Axial muscle weakness, Short neck, Minicore myopathy, Scoliosis, I... |
ORPHA:178148 |
| Xp21 Deletion Syndrome |
|
Apneic episodes in infancy, Increased muscle fatiguability |
ORPHA:261476 |
| Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Spastic gait, Ataxia, Type 1 muscle fiber predominance |
ORPHA:972 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Small for gestational age, Kyphosis |
ORPHA:85288 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Failure to thrive, Neonatal death, Optic atrophy, Kyphosis |
OMIM:618237 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Kyphosis, Spina bifida occulta, Scoliosis, Central apnea, Respiratory failure, Res... |
OMIM:618291 |
| Masa Syndrome |
|
Hyperlordosis, Hydrocephalus, Shuffling gait, Kyphosis |
OMIM:303350 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Gait disturbance, Upper limb hypertonia, Impaired vibratory sensation, Lower limb hyper... |
OMIM:614898 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Death in infancy, Facial paralysis, R... |
OMIM:605711 |
| Thyrotoxic Periodic Paralysis |
|
Abnormality of peripheral nerve conduction, Late-onset proximal muscle weakness, Respiratory para... |
ORPHA:79102 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Central sleep apnea, Failure to thrive, Muscle weakness, Respiratory failure, Obstructive sleep a... |
ORPHA:70472 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory insufficiency, Generalized muscle weakness, Respiratory failure, Optic atrophy |
OMIM:615330 |
| Hereditary Methemoglobinemia |
|
Cyanosis, Limb dystonia, Athetosis, Exertional dyspnea |
ORPHA:621 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Camptodactyly, Kyphosis |
OMIM:618453 |
| Congenital Pulmonary Lymphangiectasia |
|
Cyanosis, Pulmonary arterial hypertension, Respiratory distress, Chronic pulmonary obstruction, P... |
ORPHA:2414 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Hypoxemia, Inspiratory crackles, Restrictive ventilatory defect, Dyspnea, Cough, Pneumo... |
OMIM:610910 |
| Chiari Malformation Type Ii |
|
Cyanosis, Spina bifida, Syringomyelia, Cervical myelopathy, Opisthotonus, Inspiratory stridor |
OMIM:207950 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Exercise-induced muscle fatigue |
ORPHA:2364 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Nasal flaring, Hypoxemia, Respiratory failure, Pneumonia, Tachypnea |
ORPHA:70587 |
| Arthrogryposis Multiplex Congenita 6 |
|
Respiratory failure, Neonatal death, Death in childhood, Death in infancy |
OMIM:619334 |
| Avian Influenza |
|
Myelitis, Pneumothorax, Productive cough, Hypoxemia, Respiratory distress, Miscarriage, Pleural e... |
ORPHA:454836 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory insufficiency, Hyperlordosis, Generalized muscle weakness, Exertional dyspnea, Lower ... |
ORPHA:365 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Optic atrophy, Death in infancy, Respiratory distress, Respiratory fai... |
OMIM:614299 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Choreoathetosis, Tremor, Apneic episodes precipitated by illness, fatigue, stress, Respiratory fa... |
OMIM:312170 |
| Spinocerebellar Ataxia Type 1 |
|
Abnormal nerve conduction velocity, Abnormality of somatosensory evoked potentials, Postural trem... |
ORPHA:98755 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Optic atrophy, Apnea, Central hypoventilation, Respiratory failure, Sleep apnea |
OMIM:618233 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Kyphoscol... |
OMIM:214400 |
| Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure, Myelitis |
ORPHA:71211 |
| Tbck-Related Intellectual Disability Syndrome |
|
Respiratory insufficiency, Neurogenic bladder, Asthma, Progressive muscle weakness, Short neck, S... |
ORPHA:488632 |
| Fetal Akinesia Deformation Sequence 4 |
|
Kyphosis, Camptodactyly, Short neck, Skeletal muscle atrophy, Arthrogryposis multiplex congenita |
OMIM:618393 |
| Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Orthostatic hypotension, Abnormal upper motor neuron morphology, Neurogenic bladder |
OMIM:263570 |
| Congenital Myasthenic Syndrome |
|
Limb-girdle muscle weakness, Proximal muscle weakness, Muscle fiber atrophy, Difficulty walking, ... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Limb-girdle muscle weakness, Proximal muscle weakness, Muscle fiber atrophy, Difficulty walking, ... |
ORPHA:98914 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Neck flexor weakness, Progressive external ophthalmoplegia, Progressive muscle weakness, Total op... |
OMIM:157640 |
| Staphylococcal Necrotizing Pneumonia |
|
Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Pleural effusion, Dysp... |
ORPHA:36238 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure, Muscle weakness, Scoliosis, Optic atrophy |
OMIM:616505 |
| Myofibrillar Myopathy 10 |
|
Knee flexion contracture, Kyphosis, Elbow flexion contracture, Left ventricular hypertrophy, EMG:... |
OMIM:619040 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity, Generalized amyotrophy, Progressive ex... |
OMIM:615084 |
| Alg1-Cdg |
|
Respiratory failure, Scoliosis, Kyphosis |
ORPHA:79327 |
| Primary Pulmonary Hypoplasia |
|
Cyanosis, Pneumothorax, Abnormal breath sound, Asthma, Hypoxemia, Apnea, Restrictive ventilatory ... |
ORPHA:2257 |
| Acute Interstitial Pneumonia |
|
Cyanosis, Bronchiectasis, Hypoxemia, Pleural effusion, Crackles, Dyspnea, Respiratory failure, De... |
ORPHA:79126 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Ataxia, Abnormality of the musculature of the lower limbs, Scoliosis, Difficulty walkin... |
ORPHA:464282 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Gait disturbance, Scoliosis, Kyphosis, Truncal obesity |
ORPHA:2429 |
| Sialidosis Type 2 |
|
Flexion contracture, Kyphosis, Ataxia, Muscle weakness, Skeletal muscle atrophy |
ORPHA:87876 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
External ophthalmoplegia, Failure to thrive, Muscle weakness, Respiratory failure, Optic disc pal... |
OMIM:615838 |
| Ciliary Dyskinesia, Primary, 5 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... |
OMIM:608647 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Muscle weakness, Respiratory failure |
OMIM:616867 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Myopathy, Scoliosis, Kyphosis, Generalized limb muscle atrophy |
ORPHA:2598 |
| Van Den Bosch Syndrome |
|
Scapular winging, Unfavorable response of muscle weakness to acetylcholine esterase inhibitors |
ORPHA:3417 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Orthostatic hypotension, Rhinitis, Dyspnea, Exercise-induced muscle fatigue |
ORPHA:230 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Central sleep apnea, Apnea, Respiratory failure |
ORPHA:168486 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude |
OMIM:606353 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Opisthotonus, Exertional dyspnea |
OMIM:250800 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Flexion contracture, Optic atrophy, Kyphosis, Inability to walk, Scoliosis, Distal amyotrophy, Op... |
OMIM:609541 |
| Flynn-Aird Syndrome |
|
Kyphosis, Cachexia, Ataxia, Impaired pain sensation, Skeletal muscle atrophy, Scoliosis |
ORPHA:2047 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Degeneration of anterior horn cells, Abnormal lower motor neuron morphology, Decreased compound m... |
OMIM:602433 |
| Laryngeal Abductor Paralysis |
|
Cyanosis, Stridor |
OMIM:150260 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Progressive muscle weakness, Failure to thrive, Limb-girdle muscle weakness, Muscle weakness |
ORPHA:370 |
| Amyotrophic Lateral Sclerosis 21 |
|
Aspiration, Abnormal lower motor neuron morphology, Decreased nerve conduction velocity, Amyotrop... |
OMIM:606070 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity, Scoliosis, Kyphosis |
ORPHA:276630 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Respiratory failure, Reduced subcutaneous adipose tissue, Limb dystonia, Tremor |
ORPHA:363400 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Neonatal death |
OMIM:253310 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Distal amyotrophy, Congenital foot contractures, Scoliosis, Kyphosis |
ORPHA:3454 |
| Partial Atrioventricular Septal Defect |
|
Exertional dyspnea, Exercise-induced muscle fatigue |
ORPHA:1330 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Hemivertebrae, Abnormal form of the vertebral... |
ORPHA:2759 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb... |
OMIM:609813 |
| Sialidosis Type 1 |
|
Kyphosis, Gait disturbance, Ataxia, Muscle weakness, Decreased nerve conduction velocity, Skeleta... |
ORPHA:812 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Myopathy, Scoliosis, Kyphosis |
OMIM:618234 |
| Acute Lung Injury |
|
Hypoxemia, Respiratory distress, Dyspnea, Respiratory failure, Pneumonia, Tachypnea |
ORPHA:178320 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Apnea, Respiratory failure, Central hypoventilation |
OMIM:619483 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Kyphosis, Lower limb muscle weakness, Ophthalmoparesis, Gait disturbance, Ataxia, Dysmetria, Skel... |
ORPHA:88644 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Progressive muscle weakness, Pelvic girdle muscle weakness, Limb-girdle muscle weakness, Increase... |
ORPHA:79240 |
| Infantile Krabbe Disease |
|
Optic atrophy, Cachexia, Respiratory distress, Failure to thrive, Muscle weakness, Decreased nerv... |
ORPHA:206436 |
| Niemann-Pick Disease, Type C2 |
|
Respiratory insufficiency, Respiratory failure, Death in infancy, Jaundice, Dystonia, Neonatal re... |
OMIM:607625 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Respiratory failure, Death in infancy |
OMIM:619386 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Scheuermann-like vertebral changes, Kyphosis, Obesity, Scoliosis, Cervical spinal canal stenosis |
OMIM:301900 |
| Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Scoliosis, Kyphosis |
OMIM:300434 |
| Fibrodysplasia Ossificans Progressiva |
|
Respiratory insufficiency, Small cervical vertebral bodies, Progressive cervical vertebral spine ... |
OMIM:135100 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Unsteady gait, Scoliosis, Ataxia |
OMIM:300861 |
| Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Gait ataxia, Impaired vibration sensation in the lower limbs, Abnormal sensory nerve conduction v... |
ORPHA:88628 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Pulmonary arterial hypertension, Kyphosis, Hydrocephalus, Respiratory distress, Platyspondyly, Ce... |
OMIM:616482 |
| Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology, Intention tremor |
OMIM:215470 |
| Jaberi-Elahi Syndrome |
|
Gait ataxia, Kyphosis, Optic atrophy, Inability to walk, Choreoathetosis, Failure to thrive, Dysm... |
OMIM:617988 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Bradypnea, Torticollis, Tremor, Myelopathy, Cervical myelopathy, Respiratory failure, Death in ch... |
OMIM:617186 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Respiratory insufficiency, Abnormal lower motor neuron morphology, Cachexia, Abnormal form of the... |
ORPHA:93941 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Paroxysmal dyspnea, Respiratory failure, Stridor |
ORPHA:444013 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Gait ataxia, Chorea, Limb hypertonia, Kyphosis, Inability to walk, Impaired pain sensation |
ORPHA:500180 |
| Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Cervical spinal c... |
ORPHA:35689 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Progressive muscle weakness |
OMIM:607426 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Respiratory failure, ... |
ORPHA:3240 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cranial nerve compression, Weakness of muscles of respiration, Abnormal motor neuron morphology, ... |
ORPHA:52430 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Respiratory failure, Opisthotonus, Death in infancy |
OMIM:610678 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Optic atrophy, Respiratory distress, Failure to thrive, Muscle flaccidity, Dyspnea, Respiratory f... |
ORPHA:2707 |
| Adult Acute Respiratory Distress Syndrome |
|
Hypoxemia, Dyspnea, Abnormal blood gas level, Respiratory failure, Pneumonia |
ORPHA:70578 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Progressive muscle weakness, Failure to thrive, Increased body weight |
ORPHA:264580 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory insufficiency, Generalized muscle weakness, Proximal muscle weakness, Respiratory dis... |
ORPHA:308552 |
| Immunodeficiency 54 |
|
Respiratory insufficiency, Failure to thrive, Respiratory failure |
OMIM:609981 |
| Pelizaeus-Merzbacher Disease |
|
Kyphosis, Optic atrophy, Cachexia, Choreoathetosis, Gait disturbance, Ataxia, Scoliosis, Failure ... |
ORPHA:702 |
| Hemifacial Atrophy, Progressive |
|
Kyphosis, Horner syndrome, Ataxia |
OMIM:141300 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Respiratory insufficiency, Hyperlordosis, Pulmonary arterial hypertension, Hypoventilation, Decre... |
ORPHA:258 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Muscle weakness, Progressive proximal muscle weakness, Exertional dyspnea |
ORPHA:368 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Distal upper limb muscle weakness, Progressive proximal muscle weakness, Proximal muscle weakness... |
OMIM:620138 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Hypoxemia, Crackles, Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO |
ORPHA:747 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Progressive muscle weakness, Muscle weakness |
OMIM:615919 |
| Atypical Rett Syndrome |
|
Gait ataxia, Kyphosis, Inability to walk, Gait disturbance, Impaired pain sensation, Loss of ambu... |
ORPHA:3095 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Joint contracture of the hand, Kyphosis, Camptodactyly of toe, Skeletal muscle hypertrophy, Scoli... |
OMIM:300280 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea, Optic atrophy |
OMIM:261680 |
| Idiopathic Pulmonary Hemosiderosis |
|
Failure to thrive, Crackles, Restrictive ventilatory defect, Dyspnea, Cough, Respiratory failure |
ORPHA:99931 |
| Snakebite Envenomation |
|
Respiratory paralysis, Ecchymosis, Epistaxis, Erythema, Respiratory failure, Angioedema |
ORPHA:449285 |
| Acquired Methemoglobinemia |
|
Cyanosis, Hypoxemia, Respiratory distress, Dyspnea |
ORPHA:464453 |
| Hsd10 Disease, Infantile Type |
|
Cyanosis, Choreoathetosis, Dystonia, Optic atrophy |
ORPHA:391428 |
| Rett Syndrome |
|
Gait ataxia, Gait apraxia, Kyphosis, Truncal ataxia, Cachexia, Skeletal muscle atrophy, Scoliosis |
OMIM:312750 |
| Choanal Atresia |
|
Cyanosis, Respiratory distress, Chronic sinusitis, Tracheomalacia, Upper airway obstruction, Abno... |
ORPHA:137914 |
| Congenital Tracheomalacia |
|
Cyanosis, Respiratory insufficiency, Pulmonary arterial hypertension, Tracheobronchomalacia, Pneu... |
ORPHA:95430 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Progressive muscle weakness, Failure to thrive, Distal muscle weakness, Respiratory distress |
OMIM:256810 |
| Poliomyelitis |
|
Myelitis, Fatigable weakness of respiratory muscles, Lower limb muscle weakness, Bulbar palsy, Mu... |
ORPHA:2912 |
| Mcdonough Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Cachexia, Scoliosis, Kyphosis |
ORPHA:2471 |
| Arnold-Chiari Malformation Type Ii |
|
Cyanosis, Neurogenic bladder, Syringomyelia, Apnea, Opisthotonus, Pneumonia, Inspiratory stridor |
ORPHA:1136 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Kyphosis, Hydrocephalus, Abnormal intervertebral disk morphology, Hypopl... |
ORPHA:2635 |
| Severe Congenital Nemaline Myopathy |
|
Ophthalmoplegia, Facial diplegia, Respiratory failure, Axial muscle weakness, Facial palsy |
ORPHA:171430 |
| Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Retrocollis, Opisthotonus, Abnormal lower motor neuron morphology, Head titubation, Amyotrophic l... |
OMIM:205100 |
| Ck Syndrome |
|
Slender build, Hyperlordosis, Scoliosis, Kyphosis |
OMIM:300831 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Joint contracture of the hand, Kyphosis, Small for gestational age, Scoliosis, Joint contracture ... |
ORPHA:352490 |
| Hall-Riggs Mental Retardation Syndrome |
|
Irregular vertebral endplates, Kyphosis, Failure to thrive, Scoliosis, Platyspondyly |
OMIM:234250 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory insufficiency, Generalized muscle weakness, Lower limb muscle weakness, Progressive d... |
ORPHA:746 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Exertional dyspnea, Optic atrophy, Ophthalmoparesis, Respiratory distress, Failure to thrive, Res... |
OMIM:220110 |
| Benign Familial Neonatal Epilepsy |
|
Apnea, Circumoral cyanosis |
ORPHA:1949 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Optic atrophy, Neurogenic bladder, Recurrent pneumonia, Muscle weakness, Scoliosis, Respiratory f... |
ORPHA:496641 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory insufficiency, Generalized muscle weakness, Small for gestational age, Failure to thr... |
OMIM:609015 |
| Mercury Poisoning |
|
Interstitial pneumonitis, Respiratory distress, Tremor, Dyspnea, Respiratory failure, Dystonia |
ORPHA:330021 |
| Baralle-Macken Syndrome |
|
Obesity, Kyphosis, Inability to walk |
OMIM:619255 |
| Leigh Syndrome With Cardiomyopathy |
|
Optic atrophy, Ophthalmoplegia, Respiratory distress, Apnea, Failure to thrive, Muscle weakness, ... |
ORPHA:70474 |
| Zimmermann-Laband Syndrome 3 |
|
Flexion contracture, Kyphosis |
OMIM:618658 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus, Gait disturbance, Scoliosis, Kyphosis |
ORPHA:2181 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Apnea, Exaggerated startle response, Respiratory failure, Optic atrophy |
OMIM:617301 |
| Wieacker-Wolff Syndrome |
|
Hyperlordosis, Congenital foot contractures, Kyphosis, Camptodactyly, Muscle weakness, Short neck... |
OMIM:314580 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Flexion contracture, Hip contracture, Kyphosis, Inability to walk, Achilles tendon contracture, W... |
OMIM:301041 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Respiratory insufficiency, Optic atrophy, Death in infancy, Tremor, Dyspnea, Dystonia, Optic neur... |
OMIM:610505 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Small for gestational age, Arthrogryposis multiplex congenita, Scoliosis, Kyphosis |
OMIM:615834 |
| Scedosporiosis |
|
Pleural empyema, Abnormal respiratory system physiology, Sinusitis, Cough, Respiratory failure, B... |
ORPHA:449280 |
| Sandestig-Stefanova Syndrome |
|
Small for gestational age, Short neck, Respiratory failure |
OMIM:618804 |
| Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology |
ORPHA:275872 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Hyperlordosis, Multiple joint contractures, Kyphosis, Inability to walk, Torticollis, Scoliosis, ... |
OMIM:128100 |
| Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory insufficiency, Respiratory failure, Optic atrophy, Failure to thrive, Poor head control |
OMIM:618329 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology |
OMIM:607225 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Increased intervertebral space, Kyphosis, Thoracic kyphosis, Vertebral wedging, Hypoplasia of the... |
ORPHA:93314 |
| Schaaf-Yang Syndrome |
|
Flexion contracture, Kyphosis, Inability to walk, Camptodactyly, Scoliosis, Obesity, Failure to t... |
OMIM:615547 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Respiratory failure, Death in infancy, Jaundice, Apnea, Tremor, Hypopnea, Respiratory arrest, Neo... |
OMIM:617248 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Gait ataxia, Distal lower limb amyotrophy, Kyphosis, Macroglossia, Abdominal obesity |
OMIM:300354 |
| Peripartum Cardiomyopathy |
|
Pulmonary arterial hypertension, Exertional dyspnea, Asthma, Crackles, Orthopnea, Dyspnea, Respir... |
ORPHA:563 |
| Mucopolysaccharidosis, Type Iva |
|
Anterior beaking of lumbar vertebrae, Hyperlordosis, Kyphosis, Hypoplasia of the odontoid process... |
OMIM:253000 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Respiratory insufficiency, Kyphosis, Short neck, Scoliosis, Obesity |
ORPHA:3191 |
| Achondroplasia |
|
Kyphosis, Central sleep apnea, Cervical spinal canal stenosis, Spinal canal stenosis, Hydrocephal... |
ORPHA:15 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Respiratory failure, Limb dystonia, Opisthotonus, Death in childhood |
OMIM:619847 |
| Arthrogryposis, Distal, Type 5 |
|
Congenital finger flexion contractures, Distal arthrogryposis, Decreased muscle mass, Kyphosis, O... |
OMIM:108145 |
| Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
| O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis |
OMIM:618512 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure, Failure to thrive, Muscle weakness, Poor head control |
ORPHA:88618 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Respiratory failure, Death in infancy |
ORPHA:1194 |
| Restrictive Dermopathy 2 |
|
Cyanosis, Respiratory distress |
OMIM:619793 |
| Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Elevated pulmonary artery pressure, Exertional dyspnea, Hemothorax, Hypoxemia, Pleural ... |
ORPHA:199241 |
| Primary Ciliary Dyskinesia |
|
Respiratory failure, Bronchiectasis, Productive cough, Hydrocephalus, Chronic sinusitis, Chronic ... |
ORPHA:244 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure, Failure to thrive, Poor head control |
ORPHA:280210 |
| Bickerstaff Brainstem Encephalitis |
|
Ophthalmoplegia, Decreased motor nerve conduction velocity, Abnormality of the autonomic nervous ... |
ORPHA:79138 |
| Pulmonary Arteriovenous Malformation |
|
Cyanosis, Pulmonary arterial hypertension, Telangiectasia, Pleural empyema, Hemothorax, Hypoxemia... |
ORPHA:2038 |
| Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Respiratory insufficiency, Pneumothorax, Exertional dyspnea, Bronchiectasis, Hypoxemia,... |
ORPHA:60025 |
| 15Q24 Microdeletion Syndrome |
|
Myelomeningocele, Kyphosis, Small for gestational age, Failure to thrive, Congenital diaphragmati... |
ORPHA:94065 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:1548 |
| Lopes-Maciel-Rodan Syndrome |
|
Unsteady gait, Scoliosis, Kyphosis |
OMIM:617435 |
| Bruck Syndrome 1 |
|
Knee flexion contracture, Hip contracture, Kyphosis, Vertebral wedging, Elbow flexion contracture... |
OMIM:259450 |
| Congenital Fibrinogen Deficiency |
|
Cyanosis, Opisthotonus, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Hip Dysplasia, Beukes Type |
|
Scoliosis, Kyphosis |
ORPHA:2114 |
| Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Hypoxemia, Respiratory failure, Respiratory failure requiring assisted ventilation, Tac... |
ORPHA:555874 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology |
OMIM:221770 |
| Zimmermann-Laband Syndrome 2 |
|
Short neck, Macroglossia, Kyphosis |
OMIM:616455 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Respiratory insufficiency, Failure to thrive, Respiratory failure, Pulmonary arterial hypertension |
OMIM:613845 |
| 13Q12.3 Microdeletion Syndrome |
|
Camptodactyly, Impaired pain sensation, Kyphoscoliosis, Failure to thrive, Congenital diaphragmat... |
ORPHA:412035 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Slender build, Scoliosis, Kyphosis |
OMIM:300676 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Dystonia, Acrocyanosis, Intention tremor |
OMIM:614407 |
| Thanatophoric Dysplasia Type 2 |
|
Respiratory insufficiency, Encephalocele, Kyphosis, Hydrocephalus, Holoprosencephaly, Platyspondyly |
ORPHA:93274 |
| Kleefstra Syndrome 2 |
|
Scoliosis, Kyphosis |
OMIM:617768 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Contracture of the proximal ... |
OMIM:130060 |
| Brachyolmia Type 3 |
|
Kyphosis, Spinal cord compression, Short neck, Scoliosis, Platyspondyly |
OMIM:113500 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure, Weight loss |
ORPHA:3226 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Kyphosis, Hypoplasia of the odontoid process, Respiratory distress, Atlantoaxial instability, Sho... |
OMIM:183900 |
| Radio-Renal Syndrome |
|
Respiratory distress, Pleural effusion, Short neck, Dyspnea, Chylothorax, Respiratory failure, Ab... |
ORPHA:3015 |
| Bruck Syndrome |
|
Respiratory insufficiency, Scoliosis, Kyphosis, Platyspondyly |
ORPHA:2771 |
| Crisponi Syndrome |
|
Respiratory insufficiency, Scoliosis, Kyphosis |
ORPHA:1545 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Meningocele, Kyphosis, Vertebral segmentation defect, Spina bifida occul... |
ORPHA:2311 |
| Gm1 Gangliosidosis |
|
Camptodactyly of finger, Hyperlordosis, Aplasia/Hypoplasia of the abdominal wall musculature, Kyp... |
ORPHA:354 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hyperlordosis, Scoliosis, Kyphosis |
OMIM:615761 |
| Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Petechiae, Death in infancy |
OMIM:602473 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Pleural effusion, Respiratory failure, Hypoxemia, Tachypnea |
ORPHA:542323 |
| Machado-Joseph Disease Type 3 |
|
Degeneration of anterior horn cells, Neurogenic bladder, Abnormal lower motor neuron morphology, ... |
ORPHA:276244 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Apnea, Scoliosis, Kyphosis |
OMIM:619797 |
| Thanatophoric Dysplasia |
|
Respiratory insufficiency, Kyphosis, Hydrocephalus, Abnormal sacroiliac joint morphology, Platysp... |
ORPHA:2655 |
| Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Kyphosis, Small for gestational age, Neonatal inspiratory stridor, Laryngotracheomalacia, Kyphosc... |
ORPHA:93360 |
| Weismann-Netter Syndrome |
|
Horizontal sacrum, Scoliosis, Kyphosis |
OMIM:112350 |
| Proximal 16P11.2 Microduplication Syndrome |
|
Failure to thrive, Congenital diaphragmatic hernia, Scoliosis, Hemivertebrae, Decreased body mass... |
ORPHA:370079 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Abnormality of muscle size, Kyphosis, Distal muscle weakness, Pain insensitivity, Facial hypotoni... |
ORPHA:364028 |
| Sepsis In Premature Infants |
|
Cyanosis, Petechiae, Jaundice, Nasal flaring, Purpura, Abnormal respiratory system physiology, Dy... |
ORPHA:90051 |
| Becker Nevus Syndrome |
|
Spina bifida occulta, Shoulder girdle muscle atrophy, Scoliosis, Kyphosis |
ORPHA:64755 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic atrophy, Hydrocephalus, Stillbirth, Poor head control, Respiratory failure, Optic disc pall... |
OMIM:259720 |
| Nephronophthisis 2 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:602088 |
| Alexander Disease |
|
Chorea, Hyperlordosis, Aqueductal stenosis, Kyphosis, Abnormal autonomic nervous system physiolog... |
ORPHA:58 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode |
ORPHA:284417 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperlordosis, Obesity, Kyphosis |
ORPHA:3085 |
| Dravet Syndrome |
|
Cyanotic episode, Action tremor |
ORPHA:33069 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:1858 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Kyphosis, Spinal rigidity, Abnormal respiratory system physiology, Laryngotracheomalac... |
ORPHA:94068 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Kyphosis, Fused cervical vertebrae, Spinal cord compression, Short neck |
ORPHA:2522 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cyanosis, Death in infancy, Respiratory distress, Apnea, Hypopnea, Neonatal respiratory distress,... |
OMIM:618426 |
| Leigh Syndrome |
|
Optic atrophy, Ophthalmoplegia, Failure to thrive, Muscle weakness, Abnormal pattern of respirati... |
ORPHA:506 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure, Communicating hydrocephalus |
ORPHA:1861 |
| Boutonneuse Fever |
|
Respiratory failure, Petechiae |
ORPHA:83313 |
| Idiopathic Juvenile Osteoporosis |
|
Vertebral compression fracture, Gait disturbance, Kyphosis |
ORPHA:85193 |
| Basilar Impression, Primary |
|
Horner syndrome, Abnormal cervical myelogram, Syringomyelia, Kyphoscoliosis, Short neck, Limb mus... |
OMIM:109500 |
| Cockayne Syndrome Type 2 |
|
Flexion contracture, Kyphosis, Limb hypertonia, Gait disturbance, Ataxia, Scoliosis, Difficulty w... |
ORPHA:90322 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure, Respiratory distress |
OMIM:617895 |
| Mucolipidosis Iii Gamma |
|
Hyperlordosis, Short neck, Scoliosis, Kyphosis |
OMIM:252605 |
| Brain-Lung-Thyroid Syndrome |
|
Pulmonary arterial hypertension, Asthma, Choreoathetosis, Respiratory distress, Recurrent pneumon... |
ORPHA:209905 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Respiratory failure, Opisthotonus, Choreoathetosis, Pneumothorax |
ORPHA:445038 |
| Pelger-Huet Anomaly |
|
Failure to thrive, Foot dorsiflexor weakness, Kyphosis, Lower limb hypertonia |
OMIM:169400 |
| Diastrophic Dysplasia |
|
Respiratory insufficiency, Kyphosis, Hypoplastic cervical vertebrae, Scoliosis, Abnormal form of ... |
ORPHA:628 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Opisthotonus, Apnea, Choreoathetosis |
OMIM:619580 |
| Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
| Sjögren-Larsson Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:816 |
| Hypomelanosis Of Ito |
|
Scoliosis, Kyphosis |
OMIM:300337 |
| Srd5A3-Cdg |
|
Kyphosis, Optic atrophy, Ataxia, Abnormal sacrum morphology |
ORPHA:324737 |
| Neutral Lipid Storage Myopathy |
|
Gowers sign, Progressive distal muscle weakness, Pelvic girdle muscle weakness, Foot dorsiflexor ... |
ORPHA:98908 |
| Alpha-Mannosidosis |
|
Short neck, Scoliosis, Kyphosis, Macroglossia |
ORPHA:61 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Respiratory insufficiency, Death in infancy, Apnea, Respiratory failure, Neonatal respiratory dis... |
OMIM:608836 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cyanosis, Respiratory insufficiency, Death in infancy, Apnea, Optic neuropathy, Respiratory failu... |
OMIM:252010 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Respiratory failure, Death in infancy |
OMIM:614862 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Vertebral segmentation defect, Scoliosis, Kyphosis |
ORPHA:2617 |
| Complete Atrioventricular Septal Defect |
|
Cyanosis, Elevated pulmonary artery pressure, Intercostal retractions, Crackles, Recurrent pneumo... |
ORPHA:1329 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Respiratory insufficiency, Sudden episodic apnea |
ORPHA:159 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Inability to walk, Ataxia, Scoliosis, Unsteady ... |
OMIM:618443 |
| Clark-Baraitser syndrome |
|
Obesity, Scoliosis, Kyphosis |
OMIM:300602 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Back pain, Kyp... |
OMIM:313400 |
| Japanese Encephalitis |
|
Respiratory paralysis, Decreased motor nerve conduction velocity, Paucity of anterior horn motor ... |
ORPHA:79139 |
| Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure |
OMIM:607598 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Progressive proximal muscle weakness, Obesity, Shoulder girdle muscle weakness |
ORPHA:98907 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Large for gestational age, Kyphosis |
OMIM:618272 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Opisthotonus |
ORPHA:3304 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Knee flexion contracture, Kyphosis, Hydrocephalus, Skeletal muscle atrophy, Thoracic scoliosis |
OMIM:603387 |
| Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Hypoxemia, Dyspnea |
ORPHA:439 |
| Smith-Mccort Dysplasia 1 |
|
Kyphosis, Hypoplasia of the odontoid process, Waddling gait, Scoliosis, Platyspondyly, Beaking of... |
OMIM:607326 |
| Malignant Atrophic Papulosis |
|
Pleural effusion, Muscle flaccidity, Respiratory failure, Weight loss |
ORPHA:679 |
| Osteogenesis Imperfecta, Type Ix |
|
Scoliosis, Kyphosis, Platyspondyly |
OMIM:259440 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure, Hydrocephalus, Poor head control |
OMIM:616538 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Kyphosis, Optic atrophy, Inability to walk, Elbow flexion contracture, Scoliosis... |
OMIM:618493 |
| Mucopolysaccharidosis, Type Ii |
|
Tracheobronchomalacia, Kyphosis, Asthma, Hydrocephalus, Cervical cord compression, Recurrent pneu... |
OMIM:309900 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Kyphosis, Dysdiadochokinesis, Ophthalmoplegia, Optic atrophy, Neck muscle weakness, Dysmetria, Fo... |
ORPHA:171629 |
| Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Kyphosis, Short neck, Obesity, Flexion contracture of toe |
ORPHA:3409 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Hypoxemia, Tachypnea |
ORPHA:860 |
| Schisis Association |
|
Encephalocele, Small for gestational age, Spina bifida, Anencephaly, Congenital diaphragmatic hernia |
|
