Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
muscle, skeletal, receptor tyrosine kinase
Synonyms:
MDK4,  Nsk1,  Nsk3,  Nsk2

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Musk mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Musk by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Abnormality of the musculature of the upper limbs, Fatigable weakness of... ORPHA:98913
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Neck muscle weakness, Fatigable weakness, Generalized muscle weakness, Ophthalmoplegia, Gowers si... OMIM:616325
Fetal Akinesia Deformation Sequence
Scoliosis, Respiratory insufficiency ORPHA:994
Fetal Akinesia Deformation Sequence 1
Congenital contracture, Decreased muscle mass, Camptodactyly of finger, Elbow contracture, Hip co... OMIM:208150

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Congenital Myasthenic Syndromes With Glycosylation Defect
Generalized weakness of limb muscles, Difficulty walking, Fatigable weakness, Myopathy, Proximal ... ORPHA:353327
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Difficulty walking, Foot dorsiflexor weakness, Distal sensory impairment, Proximal... OMIM:617087
Myasthenic Syndrome, Congenital, 5
Ophthalmoparesis, Decreased muscle mass, Neck muscle weakness, Limb muscle weakness, Type 1 muscl... OMIM:603034
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Ophthalmoparesis, Arthrogryposis multiplex congenita, Neck muscle weakness, Limb muscle weakness,... OMIM:608930
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondylolisthesis at L5-S1, Os... OMIM:600561
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Pure Mitochondrial Myopathy
Quadriceps muscle weakness, Shoulder girdle muscle weakness, Exercise-induced muscle fatigue, Lum... ORPHA:254854
Myasthenic Syndrome, Congenital, 13
Scoliosis, Fatigable weakness, Muscle fiber tubular inclusions, Proximal muscle weakness OMIM:614750
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Abnormality of the musculature of the upper limbs, Fatigable weakness of... ORPHA:98913
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Lower limb muscle weakness, Inability to walk, Gait disturbance, Joint c... OMIM:611225
Charcot-Marie-Tooth Disease Type 1A
Spontaneous pain sensation, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, P... ORPHA:101081
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Poor head control, Sc... OMIM:300717
Desminopathy
Spinal rigidity, Axial muscle weakness, Distal lower limb muscle weakness, Progressive muscle wea... ORPHA:98909
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Ophthalmoparesis, Respiratory insufficiency, Failure to thrive in infancy, Generalized muscle wea... ORPHA:254875
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Ophthalmoparesis, Upper limb muscle weakness, Lower limb muscle weakness, Intermittent episodes o... OMIM:601462
Myopathy, Scapulohumeroperoneal
Foot dorsiflexor weakness, Progressive muscle weakness, Hyperlordosis, Facial palsy, Scoliosis, W... OMIM:616852
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Proximal muscle weakness in lower limbs, Broad-based gait, Tip-toe gait, Lower limb muscle weakne... OMIM:615290
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Lumbar hyperlordosis, Neck m... OMIM:610687
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Impaired pain sensation, Decreased nerve conduction velocity, Gait distu... ORPHA:101078
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal amyotrophy, Arthrogryposis multiplex congenita, Elbow flexion contracture, Nonprogressive ... OMIM:600175
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Generalized muscle weakness, Loss of ambulation, Decreased miniature endplate potentials, Poor he... OMIM:616321
Duchenne Muscular Dystrophy
Respiratory insufficiency, Progressive muscle weakness, Scoliosis, Proximal muscle weakness ORPHA:98896
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Failure to thrive, Type 1 muscle fiber predominance, Multiple joint contractur... ORPHA:424107
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Facial diplegia, Neonatal death, Short neck, Respiratory ... OMIM:611890
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Proximal muscle weakness in lower limbs, Ankle flexion contracture, Proximal muscle weakness in u... OMIM:616668
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Gowers sign, Difficulty walking, Neck muscle weakness, ... OMIM:609285
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb muscle weakness, Respiratory insufficiency, Generalized muscle weakness, Progressive m... OMIM:620285
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Hip flexor weakness, Shoulder girdle muscle weakness, Respiratory insufficiency, Foot dorsiflexor... ORPHA:266
Congenital Myopathy 10A, Severe Variant
Failure to thrive, Respiratory insufficiency, Abnormal motor nerve conduction velocity, Diaphragm... OMIM:614399
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Impaired pain sensation, Distal upper limb amyotrophy, Distal... ORPHA:101075
Congenital Myopathy 10B, Mild Variant
Neck muscle weakness, Limb muscle weakness, Generalized muscle weakness, Proximal muscle weakness... OMIM:620249
Alpha-B Crystallin-Related Late-Onset Myopathy
Neck muscle weakness, Progressive distal muscle weakness, Facial diplegia, Foot dorsiflexor weakn... ORPHA:399058
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Ophthalmoparesis, Generalized hypotonia due to defect at the neuromuscular junction, Limb muscle ... OMIM:605809
Pyknoachondrogenesis
Stillbirth OMIM:265880
Myasthenic Syndrome, Congenital, 6, Presynaptic
Ophthalmoparesis, Generalized hypotonia due to defect at the neuromuscular junction, Fatigable we... OMIM:254210
Laing Early-Onset Distal Myopathy
Proximal muscle weakness in lower limbs, Weakness of orbicularis oculi muscle, Neck muscle weakne... ORPHA:59135
Myasthenic Syndrome, Congenital, 12
Ophthalmoparesis, Neck muscle weakness, Ragged-red muscle fibers, Fatigable weakness, Proximal mu... OMIM:610542
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Ankle weakness, Foot dorsiflexor weakness, Generalized m... ORPHA:98912
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Roussy-Lévy Syndrome
Impaired vibratory sensation, Distal amyotrophy, Skeletal muscle atrophy, Impaired pain sensation... ORPHA:3115
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... OMIM:300718
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Increased muscle fatiguability, Respiratory insufficiency OMIM:616323
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot do... OMIM:605588
Adenosine Monophosphate Deaminase Deficiency
Exercise-induced muscle fatigue, Limb muscle weakness ORPHA:45
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Tip-toe gait, Proximal muscle weakness, Proximal amyotrophy, Gait disturbance, Hyperlordosis, Gow... OMIM:617404
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Multifocal Motor Neuropathy
Progressive muscle weakness, Progressive distal muscle weakness, Motor conduction block, Limb mus... ORPHA:641
Oculopharyngodistal Myopathy
Ophthalmoparesis, Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Pro... ORPHA:98897
Myasthenic Syndrome, Congenital, 10
Ophthalmoparesis, Distal amyotrophy, Fatigable weakness, Weakness of facial musculature, Axial mu... OMIM:254300
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness, Scapular wing... OMIM:616471
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Gait disturbance, Ata... ORPHA:99014
Myasthenic Syndrome, Congenital, 25, Presynaptic
Generalized amyotrophy, Decreased compound muscle action potential amplitude, Myopathy, Poor head... OMIM:618323
Autosomal Recessive Centronuclear Myopathy
Ophthalmoparesis, Respiratory insufficiency, Facial diplegia, Ophthalmoplegia, Progressive muscle... ORPHA:169186
Synaptic Congenital Myasthenic Syndromes
Neck muscle weakness, Myopathy, Generalized muscle weakness, Proximal muscle weakness, Hand muscl... ORPHA:98915
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Lower limb muscle weakness, Abnormal lower motor neuron morphology, Respiratory insufficiency due... ORPHA:2590
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Difficulty walking, Generalized muscle weakness, Proximal muscle weakness, Proximal amyotrophy, S... OMIM:606612
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Proximal muscle weakness, Peroneal muscle weakness, Progressive muscle weakness, Hyperlordosis, G... OMIM:611588
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Gowers sign, Waddling gait, EMG: myopathic abnormalit... OMIM:255200
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Muscular Dystrophy, Congenital, 1B
Shoulder girdle muscle weakness, Diaphragmatic weakness, Gowers sign, Facial palsy, Respiratory f... OMIM:604801
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Failure to thrive, Muscle weakness, Respiratory insufficiency OMIM:616081
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle weakness, Lumbar hyperlordosis, Limb muscle weakness, Proximal muscle weak... OMIM:167320
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Progressive muscle weakness, Scoliosis, Failure to thrive, Respiratory insufficiency OMIM:619518
Charcot-Marie-Tooth Disease Type 4D
Distal upper limb muscle weakness, Decreased motor nerve conduction velocity, Somatic sensory dys... ORPHA:99950
Distal Anoctaminopathy
Distal lower limb muscle weakness, Proximal muscle weakness in upper limbs, Progressive muscle we... ORPHA:399096
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Amyotrophic lat... OMIM:613954
Congenital Muscular Dystrophy With Intellectual Disability
Fatigable weakness of skeletal muscles, Respiratory insufficiency, Decreased cervical spine mobil... ORPHA:370968
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Impaired pain sensation, Obesity, Foot dorsiflexor weakness, Distal sensory impairment, Loss of a... OMIM:618124
Spinal Muscular Atrophy, Type I
Poor head control, Proximal muscle weakness in lower limbs, Respiratory failure, Respiratory insu... OMIM:253300
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Exercise-induced muscle fatigue, Progressive proximal muscle weakness, Scoliosis ORPHA:369847
Amyotrophic Lateral Sclerosis 8
Distal muscle weakness, Progressive muscle weakness, Amyotrophic lateral sclerosis, Proximal musc... OMIM:608627
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Immunoneurologic Disorder, X-Linked
Progressive proximal muscle weakness, Small for gestational age, Neonatal death OMIM:300076
Distal Nebulin Myopathy
Slender build, Progressive distal muscle weakness, Foot dorsiflexor weakness, Progressive proxima... ORPHA:399103
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal peripheral action potential amplitude, Tremor, Respiratory failure, Abnormal seventh cra... ORPHA:90117
Amyotrophic Lateral Sclerosis 28
Muscle weakness, Respiratory failure, Upper limb muscle weakness, Lower limb muscle weakness OMIM:620452
Hypokalemic Periodic Paralysis
Exercise-induced muscle fatigue, Episodic flaccid weakness, Respiratory paralysis, Late-onset pro... ORPHA:681
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Muscle fiber splitting, Broad-based... OMIM:181405
Myopathy Due To Myoadenylate Deaminase Deficiency
Increased muscle fatiguability, Muscle weakness OMIM:615511
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Myopathy, Short neck, Spinal rigidity, Facial dip... ORPHA:171436
Nemaline Myopathy 8
Facial palsy, Respiratory failure, Death in infancy OMIM:615348
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure, Muscle weakness, Amyotrophic lateral sclerosis OMIM:613435
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Falls, Generalized li... OMIM:608358
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Progressive external ophthalmoplegia, Progressive proximal muscle weakness, Respiratory insuffici... ORPHA:663
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Quadriceps muscle weakness, Elbow flexion contracture, Inability to walk, Lumbar hyperlordosis, A... ORPHA:206546
Distal Myopathy With Anterior Tibial Onset
Limb-girdle muscle weakness, Progressive proximal muscle weakness, Tibialis muscle weakness ORPHA:178400
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Progressive muscle weakness, Kyphosis OMIM:151800
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:611722
Mitochondrial Complex I Deficiency, Nuclear Type 29
Increased muscle fatiguability, Failure to thrive, Muscle weakness, Proximal muscle weakness OMIM:618250
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Ullrich Congenital Muscular Dystrophy
Generalized muscle weakness, Diaphragmatic weakness, Short neck, Respiratory failure, Scoliosis, ... ORPHA:75840
Myopathy, Myofibrillar, 4
Progressive muscle weakness, Progressive proximal muscle weakness, Progressive distal muscle weak... OMIM:609452
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Marinesco-Sjogren Syndrome
Progressive muscle weakness, Scoliosis, Kyphosis, Failure to thrive OMIM:248800
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Arts Syndrome
Optic atrophy, Progressive muscle weakness, Spinal cord posterior columns myelin loss OMIM:301835
Triosephosphate Isomerase Deficiency
Failure to thrive, Respiratory insufficiency, Progressive muscle weakness, Respiratory insufficie... OMIM:615512
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Failure to thrive, Decreased nerve conduction velocity, Limb muscle weakness, Diaphragmatic weakn... OMIM:604320
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Kypho... OMIM:618484
Oculopharyngeal Myopathy With Leukoencephalopathy 1
External ophthalmoplegia, Distal muscle weakness, Respiratory failure, Proximal muscle weakness OMIM:618637
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Kyphosis, Respiratory insufficiency, Thoracolumbar scoliosis, Respiratory failure OMIM:313420
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Failure to thrive, Progressive muscle weakness, Hyperlordosis, Gowers sign, Muscle weakness OMIM:600462
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis, Flexion contracture OMIM:168400
Amish Nemaline Myopathy
Progressive muscle weakness, Respiratory insufficiency due to muscle weakness ORPHA:98902
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Inability to walk, Lumbar hyperlordosis, Obesity, Ataxia, Scoliosis, Kyphosis, ... OMIM:616756
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Progressive muscle weakness, Respiratory insufficiency OMIM:605355
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiorespiratory arrest, Exercise-induced muscle fatigue, Fatigable weakness of neck muscles, Pr... ORPHA:26791
Congenital Fiber-Type Disproportion Myopathy
Weakness of muscles of respiration, Failure to thrive, Shoulder girdle muscle weakness, Foot dors... ORPHA:2020
Bethlem Muscular Dystrophy
Difficulty walking, Neck muscle weakness, Gowers sign, Spinal rigidity, Rimmed vacuoles, Ankle fl... ORPHA:610
Sandhoff Disease
Muscle weakness, Kyphosis, Failure to thrive, Ataxia ORPHA:796
Muscular Dystrophy, Congenital, With Or Without Seizures
Progressive muscle weakness, Respiratory failure, Muscle weakness, Proximal muscle weakness OMIM:620166
Myasthenic Syndrome, Congenital, 20, Presynaptic
Ophthalmoparesis, Scoliosis, Skeletal muscle atrophy, Neck muscle weakness, Fatigable weakness, P... OMIM:617143
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
Congenital Myopathy 14
Neck muscle weakness, Proximal muscle weakness, Axial muscle weakness, Generalized muscle weaknes... OMIM:618414
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Neonatal respiratory distress, Respiratory failure, Small for gestational age OMIM:619057
Infantile Refsum Disease
Optic atrophy, Facial palsy, Failure to thrive, Progressive muscle weakness ORPHA:772
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Muscular dystrophy, Tip-toe gait, Shoulder girdle muscle weakness, Difficulty walki... OMIM:607155
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Degeneration of anterior horn cells, Failure to thrive, Respiratory failure, Muscl... ORPHA:2254
Hypertrophic Neuropathy Of Dejerine-Sottas
Broad-based gait, Distal amyotrophy, Decreased motor nerve conduction velocity, Foot dorsiflexor ... OMIM:145900
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:613869
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Peroxisome Biogenesis Disorder 11B
Progressive muscle weakness, Muscle weakness OMIM:614885
Dimethylglycine Dehydrogenase Deficiency
Increased muscle fatiguability ORPHA:243343
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Decreased muscle m... ORPHA:536516
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:98855
Hereditary Motor And Sensory Neuropathy, Type Iic
Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Oculomotor nerve pals... OMIM:606071
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Facial myokymia, Kyphosis, Failure to thrive, Ataxia OMIM:620007
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Distal amyotrophy, Decreased motor nerve conduction velocity, Limb muscle weakness, Foot dorsifle... OMIM:118220
Congenital Muscular Dystrophy Without Intellectual Disability
Muscular dystrophy, Tip-toe gait, Difficulty walking, Reduced muscle fiber alpha dystroglycan, Fa... ORPHA:370980
Roussy-Levy Hereditary Areflexic Dystasia
Distal amyotrophy, Decreased motor nerve conduction velocity, Gait ataxia, Distal sensory impairm... OMIM:180800
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Short neck, Sp... ORPHA:98863
Dimethylglycine Dehydrogenase Deficiency
Increased muscle fatiguability OMIM:605850
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Distal upper limb muscle weakness, Quadriceps muscle weakness, Fac... ORPHA:70
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatig... ORPHA:2593
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Progressive external ophthalmoplegia, Increased muscle fatiguability OMIM:613077
Cdkl5-Deficiency Disorder
Impaired pain sensation, Difficulty walking, Gait disturbance, Poor head control, Scoliosis, Kyph... ORPHA:505652
Erythrocyte Lactate Transporter Defect
Exercise-induced muscle fatigue OMIM:245340
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Charcot-Marie-Tooth Disease, Type 4B2
Distal amyotrophy, Decreased motor nerve conduction velocity, Difficulty walking, Foot dorsiflexo... OMIM:604563
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:98853
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Generalized muscle weakness, Distal lower limb muscle weakness, Bilateral facial palsy, Progressi... ORPHA:254361
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness OMIM:611067
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Distal amyotrophy, Decreased motor nerve conduction velocity, Limb muscle weakness, Foot dorsifle... OMIM:118200
Distal Myotilinopathy
Progressive proximal muscle weakness, Progressive distal muscle weakness ORPHA:98911
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness OMIM:615515
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Failure to thrive, Upper limb hypertonia, Kyphosis, Impaired propri... ORPHA:319199
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Distal amyotrophy, Decreased motor nerve conduction velocity, Distal sensory impairment, Proximal... OMIM:607831
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Vacterl Association With Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Respiratory insufficiency, Hy... OMIM:276950
Myopathy And Diabetes Mellitus
Progressive proximal muscle weakness, Pelvic girdle muscle weakness, Weakness of orbicularis ocul... ORPHA:2596
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Quadriceps muscle weakness, Shoulder girdle muscle weakness, Foot dorsiflexor weakness, Proximal ... OMIM:603689
Hyperekplexia 4
Respiratory failure, Kyphoscoliosis OMIM:618011
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Muscle weakness OMIM:616794
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness OMIM:619024
Amyotrophic Lateral Sclerosis
Upper limb muscle weakness, Amyotrophic lateral sclerosis, Lower limb muscle weakness, Foot dorsi... ORPHA:803
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Lower limb muscle weakness, Impaired vibration sensation in the low... OMIM:614409
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... ORPHA:40
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Neck muscle weakness, Fatigable weakness, Generalized muscle weakness, Ophthalmoplegia, Gowers si... OMIM:616325
Charcot-Marie-Tooth Disease, Type 4D
Distal amyotrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Claw... OMIM:601455
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Generalized amyotrophy, Failu... OMIM:254090
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Muscular dystrophy, Somatic sensory dysfunction, Obesity, Ky... ORPHA:459033
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Fatigable weakness of skeletal muscles, Proximal spinal muscular a... ORPHA:1320
Intermediate Nemaline Myopathy
Facial diplegia, Generalized muscle weakness, Ophthalmoplegia, Facial palsy, Respiratory failure ORPHA:171433
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Respiratory failure, Death in infancy OMIM:618240
Dk1-Cdg
Progressive muscle weakness, Failure to thrive ORPHA:91131
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Finger joint contracture, Chorea, Paresthesia, Abnormality of peripheral nerve conduction, Dysmet... ORPHA:48431
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Small for gestational age, Kyphosis, Decreased body weight OMIM:618392
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive external ophthalmoplegia, Progressive muscle weakness, Limb muscle weakness, Proximal... OMIM:609286
Brown-Vialetto-Van Laere Syndrome 1
External ophthalmoplegia, Skeletal muscle atrophy, Neck muscle weakness, Gait imbalance, Hand mus... OMIM:211530
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Stormorken Syndrome
Increased muscle fatiguability, Proximal muscle weakness OMIM:185070
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Failure to thrive, Limb muscle weakness, Progressive external ophthalmoplegia, Progressive muscle... OMIM:610131
Creatine Phosphokinase, Elevated Serum
Increased muscle fatiguability OMIM:123320
Fibrosis Of Extraocular Muscles, Congenital, 3C
Congenital fibrosis of extraocular muscles, Restrictive partial external ophthalmoplegia, Kyphosis OMIM:609384
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal rigidity, Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle we... ORPHA:352447
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Gait disturbance, Ataxia, Scoliosis, Kyphosis, Muscle weakness ORPHA:85317
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Dystonia, Respiratory failure, Death in infancy OMIM:616277
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Respiratory i... OMIM:156530
Perching Syndrome
Cyanosis OMIM:617055
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Impaired pain sensation, Impaired temperature sensati... OMIM:619574
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ... OMIM:602099
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Glycogen Storage Disease Vii
Exercise-induced muscle fatigue, Muscle weakness OMIM:232800
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Kyphosis ORPHA:85288
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Ax... ORPHA:178148
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Exercise-induced muscle fatigue, Muscle weakness ORPHA:713
Immunodeficiency 95
Respiratory failure OMIM:619773
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Corticosteroid-Binding Globulin Deficiency
Increased muscle fatiguability OMIM:611489
Lethal Osteosclerotic Bone Dysplasia
Short neck, Respiratory failure ORPHA:1832
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Limb ataxia, Gait ataxia, Dysmetria, Abnormal autonomic nervous system physiology,... OMIM:610743
Finnish Upper Limb-Onset Distal Myopathy
Progressive proximal muscle weakness, Progressive distal muscle weakness ORPHA:399086
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Upper limb hypertonia, Gait disturbance, Kyphosis, Lower limb hyper... OMIM:614898
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Kyphosis, Failure to thrive, Neonatal death OMIM:618237
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy OMIM:610992
Hereditary Continuous Muscle Fiber Activity
Spastic gait, Type 1 muscle fiber predominance, Congenital diaphragmatic hernia, Ataxia ORPHA:972
Leigh Syndrome, Nuclear
Optic atrophy, Failure to thrive, Respiratory insufficiency, Ophthalmoplegia, Respiratory failure OMIM:256000
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol... OMIM:271530
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Dystonia, Choreoathetosis ORPHA:71277
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Failure to thrive, Respiratory insufficiency, Neonatal death, Poor... OMIM:245400
Masa Syndrome
Hydrocephalus, Shuffling gait, Kyphosis, Hyperlordosis OMIM:303350
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Respiratory insufficiency, Facial diplegia, Neonatal d... OMIM:618186
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Kyphosis OMIM:618453
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:610127
Multiple Mitochondrial Dysfunctions Syndrome 3
Optic atrophy, Respiratory failure, Respiratory insufficiency, Generalized muscle weakness OMIM:615330
Congenital Myopathy 22A, Classic
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, External... OMIM:620351
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory insufficiency due to muscle weakness, Spina bifida occulta, Respiratory failure, Scol... OMIM:618291
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Exercise-induced muscle fatigue ORPHA:2364
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death OMIM:619334
Congenital Multicore Myopathy With External Ophthalmoplegia
External ophthalmoplegia, Shoulder girdle muscle weakness, Facial diplegia, Proximal muscle weakn... ORPHA:98905
Neuromyelitis Optica Spectrum Disorder
Myelitis, Respiratory failure ORPHA:71211
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Respiratory failure OMIM:263000
Congenital Myasthenic Syndrome
Difficulty walking, Muscle fiber atrophy, Neck muscle weakness, Intermittent episodes of respirat... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Difficulty walking, Muscle fiber atrophy, Neck muscle weakness, Intermittent episodes of respirat... ORPHA:98914
Multiple Mitochondrial Dysfunctions Syndrome 1
Facial paralysis, Respiratory insufficiency, Death in infancy, Neonatal death, Opisthotonus, Resp... OMIM:605711
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Skeletal muscle atrophy, Ataxia, Anterior beaking of lumbar vertebrae, Scoliosis, ... OMIM:230650
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Scoliosis, Respiratory failure, Muscle weakness OMIM:616505
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Short neck, Camptodactyly, Arthrogryposis multiplex congenita, Kyphosis OMIM:618393
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Neurogenic bladder, Orthostatic hypotension OMIM:263570
Sialidosis Type 2
Skeletal muscle atrophy, Ataxia, Flexion contracture, Kyphosis, Muscle weakness ORPHA:87876
Alg1-Cdg
Respiratory failure, Scoliosis, Kyphosis ORPHA:79327
Xp21 Deletion Syndrome
Increased muscle fatiguability ORPHA:261476
Van Den Bosch Syndrome
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors, Scapular winging ORPHA:3417
Mitochondrial Dna Depletion Syndrome 11
Spinal rigidity, Generalized amyotrophy, Ragged-red muscle fibers, Progressive external ophthalmo... OMIM:615084
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, EMG: myopathic abnormalities, Knee flexion ... OMIM:619040
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure, Muscle weakness OMIM:616867
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Failure to thrive, Muscle weakness ORPHA:70472
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Gait disturbance, Scoliosis, Kyphosis, Truncal obesity ORPHA:2429
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Total ophthalmoplegia, Limb muscle weakness, Progressive external ophthalmoplegia, Progressive mu... OMIM:157640
Muscular Dystrophy, Duchenne Type
Hyperlordosis, Respiratory insufficiency due to muscle weakness, Gowers sign, Scoliosis, Respirat... OMIM:310200
Thyrotoxic Periodic Paralysis
Ophthalmoparesis, Lower limb muscle weakness, Exercise-induced muscle fatigue, Obesity, Episodic ... ORPHA:79102
Tbck-Related Intellectual Disability Syndrome
Respiratory insufficiency, Short neck, Progressive muscle weakness, Neurogenic bladder, Scoliosis ORPHA:488632
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Optic atrophy, Abnormality of somatosensory evoked potentials... ORPHA:98755
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Respiratory failure, Choreoathetosis, Tremor OMIM:312170
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude OMIM:606353
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis, Myopathy, Generalized limb muscle atrophy ORPHA:2598
Richieri Costa-Da Silva Syndrome
Falls, Vertebral wedging, Decreased muscle mass, Decreased anterioposterior diameter of lumbar ve... ORPHA:3101
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Distal amyotrophy, Inability to walk, Optic disc pallor, Flexion contracture, Scol... OMIM:609541
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Muscular dystrophy, Gait disturbance, Kyphosis ORPHA:1875
Congenital Myopathy 21 With Early Respiratory Failure
Diaphragmatic weakness, Respiratory failure, Spinal rigidity OMIM:620326
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
Breath-Holding Spells
Cyanosis OMIM:607578
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Respiratory insufficiency, Poor head control, Respiratory failure, Muscle weakness OMIM:614299
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Cyanosis, Death in infancy, Neonatal death, Respiratory failure OMIM:265120
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
External ophthalmoplegia, Failure to thrive, Optic disc pallor, Respiratory failure, Muscle weakness OMIM:615838
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity, Scoliosis, Kyphosis ORPHA:276630
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Decreased compound muscle action potential amplitude, Abnormal low... OMIM:602433
Flynn-Aird Syndrome
Skeletal muscle atrophy, Impaired pain sensation, Cachexia, Ataxia, Scoliosis, Kyphosis ORPHA:2047
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Limb dystonia, Respiratory failure, Tremor ORPHA:363400
Hereditary Methemoglobinemia
Athetosis, Limb dystonia, Cyanosis ORPHA:621
Intellectual Disability-Developmental Delay-Contractures Syndrome
Congenital foot contractures, Distal amyotrophy, Scoliosis, Kyphosis ORPHA:3454
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:609813
Sialidosis Type 1
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Decreased nerve conduction veloci... ORPHA:812
Chiari Malformation Type Ii
Cervical myelopathy, Cyanosis, Syringomyelia, Opisthotonus, Spina bifida OMIM:207950
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis OMIM:300434
Glycogen Storage Disease Due To Acid Maltase Deficiency
Failure to thrive, Lower limb muscle weakness, Respiratory insufficiency, Fatigable weakness of r... ORPHA:365
Mitochondrial Complex I Deficiency, Nuclear Type 11
Myopathy, Scoliosis, Kyphosis, Failure to thrive OMIM:618234
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Obesity, Scheuermann-like vertebral changes, Scoliosis, Kyphosis OMIM:301900
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Difficulty walking, Obesity, Ataxia, Unsteady gait, Scoliosis, Kyphosis, Waddling gait ORPHA:464282
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Unsteady gait, Scoliosis, Kyphosis, Ataxia OMIM:300861
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Inability to walk, Chorea, Gait ataxia, Limb hypertonia, Kyphosis ORPHA:500180
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight, Progressive muscle weakness, Pelvic girdle muscle weakness, Limb-girdle mu... ORPHA:79240
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Ophthalmoparesis, Skeletal muscle atrophy, Lower limb muscle weakne... ORPHA:88644
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Intention tremor OMIM:215470
Winchester Syndrome
Kyphosis OMIM:277950
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Respiratory insufficiency, Progressive cervical vertebral spine ... OMIM:135100
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Impaired vibration sensation in the lower limbs, Abnormal sensory nerve conduction velocity, Gait... ORPHA:88628
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive, Sho... ORPHA:206436
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Head titubation, Respiratory failure, Vestibular areflexia ORPHA:3240
Jaberi-Elahi Syndrome
Optic atrophy, Broad-based gait, Failure to thrive, Muscle weakness, Inability to walk, Gait atax... OMIM:617988
Amyotrophic Lateral Sclerosis 21
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Abnormal upper motor neuron m... OMIM:606070
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, P... OMIM:607625
Infant Acute Respiratory Distress Syndrome
Cyanosis, Hypoxemia, Respiratory failure ORPHA:70587
Combined Oxidative Phosphorylation Deficiency 4
Opisthotonus, Respiratory failure, Death in infancy OMIM:610678
Coenzyme Q10 Deficiency, Primary, 1
Progressive muscle weakness OMIM:607426
Immunodeficiency 54
Respiratory failure, Failure to thrive, Respiratory insufficiency OMIM:609981
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Petechiae, Purpura, Respiratory failure, Vasculitis in the skin OMIM:620296
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased body weight, Progressive muscle weakness, Failure to thrive ORPHA:264580
Pelizaeus-Merzbacher Disease
Optic atrophy, Failure to thrive in infancy, Cachexia, Gait disturbance, Ataxia, Scoliosis, Kypho... ORPHA:702
Hemifacial Atrophy, Progressive
Horner syndrome, Kyphosis, Ataxia OMIM:141300
Hsd10 Disease, Infantile Type
Cyanosis, Optic atrophy, Dystonia, Choreoathetosis ORPHA:391428
Mitochondrial Complex I Deficiency, Nuclear Type 10
Optic atrophy, Respiratory failure OMIM:618233
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Proximal muscle weakness in lower limbs, Progressive proximal muscle weakness, Distal upper limb ... OMIM:620138
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Respiratory failure ORPHA:168486
Dopamine Beta-Hydroxylase Deficiency
Exercise-induced muscle fatigue, Orthostatic hypotension ORPHA:230
Atypical Rett Syndrome
Impaired pain sensation, Inability to walk, Gait ataxia, Loss of ambulation, Gait disturbance, Ab... ORPHA:3095
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Partial Atrioventricular Septal Defect
Exercise-induced muscle fatigue ORPHA:1330
Amyotrophic Lateral Sclerosis 2, Juvenile
Arm dystonia, Generalized dystonia, Amyotrophic lateral sclerosis, Abnormal upper motor neuron mo... OMIM:205100
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cervical myelopathy, Myelopathy, Death in childhood, Tremor, Torticollis, Respiratory failure OMIM:617186
Uruguay Faciocardiomusculoskeletal Syndrome
Joint contracture of the hand, Difficulty walking, Kyphoscoliosis, Camptodactyly of toe, Left ven... OMIM:300280
Rett Syndrome
Skeletal muscle atrophy, Gait ataxia, Cachexia, Gait apraxia, Truncal ataxia, Scoliosis, Kyphosis OMIM:312750
Ck Syndrome
Kyphosis, Slender build, Scoliosis, Hyperlordosis OMIM:300831
Poliomyelitis
Myelitis, Muscle flaccidity, Lower limb muscle weakness, Upper limb muscle weakness, Abnormal mot... ORPHA:2912
Mcdonough Syndrome
Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Kyphosis ORPHA:2471
Autism Spectrum Disorder Due To Auts2 Deficiency
Joint contracture of the hand, Kyphosis, Congenital contracture, Arthrogryposis multiplex congeni... ORPHA:352490
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Abnormal form of the vertebral bodies, Hemivertebrae ORPHA:2759
Hall-Riggs Syndrome
Platyspondyly, Failure to thrive, Scoliosis, Kyphosis, Irregular vertebral endplates OMIM:234250
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Failure to thrive, Respiratory insufficiency, Proximal muscle weakness, Generalized muscle weakne... ORPHA:308552
Asbestos Intoxication
Cyanosis, Oxygen desaturation on exertion, Hypoxemia, Respiratory failure ORPHA:2302
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Severe Congenital Nemaline Myopathy
Facial diplegia, Axial muscle weakness, Ophthalmoplegia, Facial palsy, Respiratory failure ORPHA:171430
Combined Oxidative Phosphorylation Deficiency 11
Death in childhood, Death in infancy, Neonatal death, Stillbirth, Respiratory failure OMIM:614922
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cranial nerve compression, Amyotrophic lateral sclerosis, Abnormal motor neuron morphology ORPHA:52430
Baralle-Macken Syndrome
Inability to walk, Obesity, Kyphosis OMIM:619255
Metatropic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Camptodactyly of finger, H... ORPHA:2635
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Failure to thrive, Respiratory insufficiency, Generalized muscle weakn... OMIM:609015
Zimmermann-Laband Syndrome 3
Flexion contracture, Kyphosis OMIM:618658
Mitochondrial Trifunctional Protein Deficiency
Lower limb muscle weakness, Respiratory insufficiency, Failure to thrive in infancy, Progressive ... ORPHA:746
Ataxia-Telangiectasia-Like Disorder 2
Progressive muscle weakness, Muscle weakness OMIM:615919
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Kyphosis, Lumbar hyperlordosis, Neonatal death, Hydrocephalus, Respiratory failure OMIM:616482
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Respiratory insufficiency ORPHA:93941
Pneumocystosis
Respiratory failure requiring assisted ventilation, Hypoxemia, Respiratory failure, Respiratory i... ORPHA:723
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Cyanosis, Tremor OMIM:250800
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Respiratory insufficiency, Decreased body weight, Intercostal muscle weakness, Hyperlordosis, Fac... ORPHA:258
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord ORPHA:35689
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, Gait disturbance, Scoliosis, Kyphosis ORPHA:2181
Wieacker-Wolff Syndrome, Female-Restricted
Inability to walk, Hip contracture, Weakness of facial musculature, Short neck, Achilles tendon c... OMIM:301041
Wieacker-Wolff Syndrome
Distal amyotrophy, Arthrogryposis multiplex congenita, Congenital foot contractures, Short neck, ... OMIM:314580
Oculocerebrofacial Syndrome, Kaufman Type
Optic atrophy, Respiratory failure, Failure to thrive, Muscle flaccidity ORPHA:2707
Sandestig-Stefanova Syndrome
Short neck, Respiratory failure, Small for gestational age OMIM:618804
Intellectual Developmental Disorder, Autosomal Dominant 26
Arthrogryposis multiplex congenita, Small for gestational age, Scoliosis, Kyphosis OMIM:615834
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Neurogenic bladder, Scoliosis, Respiratory failure, Muscle weakness, Respiratory f... ORPHA:496641
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Jaundice, Respiratory failure OMIM:250940
Snakebite Envenomation
Erythema, Respiratory failure, Angioedema, Ecchymosis ORPHA:449285
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology ORPHA:275872
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis ORPHA:2004
Tricuspid Atresia
Cyanosis ORPHA:1209
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Progressive muscle weakness, Failure to thrive, Distal muscle weakness OMIM:256810
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Cyanosis, Death in infancy, Neonatal death, Hypoxemia, Respiratory... OMIM:610921
Schaaf-Yang Syndrome
Failure to thrive in infancy, Inability to walk, Obesity, Camptodactyly, Flexion contracture, Sco... OMIM:615547
Dystonia 1, Torsion, Autosomal Dominant
Inability to walk, Multiple joint contractures, Hyperlordosis, Torticollis, Facial palsy, Scolios... OMIM:128100
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Gait ataxia, Abdominal obesity, Macroglossia, Kyphosis OMIM:300354
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Arthrogryposis, Distal, Type 5
Firm muscles, Decreased muscle mass, Ophthalmoplegia, Distal arthrogryposis, Congenital finger fl... OMIM:108145
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Respiratory failure ORPHA:444013
Combined Oxidative Phosphorylation Deficiency 3
Optic atrophy, Respiratory insufficiency, Death in childhood, Tremor, Death in infancy, Dystonia,... OMIM:610505
Adult Acute Respiratory Distress Syndrome
Hypoxemia, Abnormal blood gas level, Respiratory failure ORPHA:70578
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Failure to thrive, Respiratory insufficiency, Poor head control, Respiratory failure OMIM:618329
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra... ORPHA:93314
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Resp... OMIM:608647
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Respiratory failure, Exaggerated startle response OMIM:617301
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Progressive proximal muscle weakness, Muscle weakness ORPHA:368
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Avian Influenza
Myelitis, Hypoxemia, Respiratory failure, Miscarriage ORPHA:454836
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Opisthotonus, Limb dystonia, Respiratory failure, Death in childhood OMIM:619847
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure OMIM:619483
Subaortic Stenosis-Short Stature Syndrome
Respiratory insufficiency, Obesity, Short neck, Scoliosis, Kyphosis ORPHA:3191
Pelizaeus-Merzbacher Disease, Connatal Form
Poor head control, Respiratory failure, Failure to thrive ORPHA:280210
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
S-Adenosylhomocysteine Hydrolase Deficiency
Poor head control, Respiratory failure, Failure to thrive, Muscle weakness ORPHA:88618
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Respiratory failure, Death in infancy ORPHA:1194
Kleefstra Syndrome 2
Scoliosis, Kyphosis OMIM:617768
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Kyphosis ORPHA:1548
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Ophthalmoparesis, Failure to thrive, Respiratory insufficiency due to muscle weakn... OMIM:220110
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Hypoxemia, Cyanosis ORPHA:2257
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Lopes-Maciel-Rodan Syndrome
Unsteady gait, Scoliosis, Kyphosis OMIM:617435
15Q24 Microdeletion Syndrome
Kyphosis, Failure to thrive, Myelomeningocele, Obesity, Congenital diaphragmatic hernia, Scoliosi... ORPHA:94065
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Opisthotonus, Bruising susceptibility, Cyanosis ORPHA:335
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Cyanosis OMIM:261680
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology OMIM:221770
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Acute Interstitial Pneumonia
Cyanosis, Hypoxemia, Respiratory failure ORPHA:79126
Proximal 16P11.2 Microduplication Syndrome
Decreased body mass index, Failure to thrive, Congenital diaphragmatic hernia, Hemivertebrae, Sco... ORPHA:370079
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
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
Congenital Pulmonary Lymphangiectasia
Cyanosis ORPHA:2414
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Zimmermann-Laband Syndrome 2
Macroglossia, Short neck, Kyphosis OMIM:616455
13Q12.3 Microdeletion Syndrome
Impaired pain sensation, Failure to thrive, Obesity, Congenital diaphragmatic hernia, Kyphoscolio... ORPHA:412035
Acute Lung Injury
Hypoxemia, Respiratory failure ORPHA:178320
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Contracture of the proximal interphalangeal joint of the 2nd finger, Contracture of the proximal ... OMIM:130060
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Slender build, Facial hypotonia, Abnormality of muscle size, Distal muscle we... ORPHA:364028
Deafness-Lymphedema-Leukemia Syndrome
Weight loss, Respiratory failure ORPHA:3226
Machado-Joseph Disease Type 3
Spinocerebellar tract degeneration, Abnormal lower motor neuron morphology, Neurogenic bladder, D... ORPHA:276244
Dravet Syndrome
Action tremor, Cyanotic episode ORPHA:33069
Brachyolmia Type 3
Platyspondyly, Short neck, Spinal cord compression, Scoliosis, Kyphosis OMIM:113500
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Scoliosis, Hyperlordosis, Sacral dimple OMIM:615761
Bruck Syndrome 1
Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Hip contr... OMIM:259450
Thanatophoric Dysplasia Type 2
Platyspondyly, Respiratory insufficiency, Encephalocele, Hydrocephalus, Holoprosencephaly, Kyphosis ORPHA:93274
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure, Tremor, Exaggerated startle response OMIM:620327
Bruck Syndrome
Platyspondyly, Scoliosis, Kyphosis, Respiratory insufficiency ORPHA:2771
Autosomal Recessive Spondylocostal Dysostosis
Abnormal form of the vertebral bodies, Camptodactyly of finger, Congenital diaphragmatic hernia, ... ORPHA:2311
Alexander Disease
Failure to thrive, Chorea, Short neck, Gait disturbance, Hyperlordosis, Hydrocephalus, Ataxia, Ab... ORPHA:58
Mucopolysaccharidosis, Type Iva
Platyspondyly, Cervical myelopathy, Hypoplasia of the odontoid process, Lumbar kyphosis, Short ne... OMIM:253000
Gm1 Gangliosidosis
Platyspondyly, Optic atrophy, Abnormal form of the vertebral bodies, Failure to thrive, Camptodac... ORPHA:354
Boutonneuse Fever
Petechiae, Respiratory failure ORPHA:83313
Crisponi Syndrome
Scoliosis, Kyphosis, Respiratory insufficiency ORPHA:1545
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis ORPHA:330012
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Congenital Heart Block
Cyanosis ORPHA:60041
Thanatophoric Dysplasia
Platyspondyly, Respiratory insufficiency, Abnormal sacroiliac joint morphology, Hydrocephalus, Ky... ORPHA:2655
Weismann-Netter Syndrome
Scoliosis, Horizontal sacrum, Kyphosis OMIM:112350
Becker Nevus Syndrome
Spina bifida occulta, Scoliosis, Kyphosis, Shoulder girdle muscle atrophy ORPHA:64755
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Hydrocephalus, Stillbirth, Poor head control, Optic disc pallor, Facial palsy, Res... OMIM:259720
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory failure, Failure to thrive, Respiratory insufficiency OMIM:613845
Srd5A3-Cdg
Optic atrophy, Abnormal sacrum morphology, Kyphosis, Ataxia ORPHA:324737
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Mercury Poisoning
Dystonia, Respiratory failure, Tremor ORPHA:330021
Idiopathic Juvenile Osteoporosis
Vertebral compression fracture, Gait disturbance, Kyphosis ORPHA:85193
Congenital Tricuspid Valve Dysplasia
Cyanosis, Hypoxemia, Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:555874
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Obesity, Kyphosis, Hyperlordosis ORPHA:3085
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short neck, Hyperlordosis, Spinal cord compression, Kyphosis, Fused cervical vertebrae ORPHA:2522
3-Methylglutaconic Aciduria, Type Viii
Tremor, Neonatal death, Respiratory arrest, Death in infancy, Jaundice, Dystonia, Respiratory fai... OMIM:617248
Idiopathic Pulmonary Hemosiderosis
Respiratory failure, Failure to thrive ORPHA:99931
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory failure ORPHA:1861
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Kyphosis, Failure to thrive, Lower limb hypertonia OMIM:169400
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Cockayne Syndrome Type 2
Difficulty walking, Gait disturbance, Limb hypertonia, Ataxia, Flexion contracture, Scoliosis, Ky... ORPHA:90322
Basilar Impression, Primary
Abnormal cervical myelogram, Limb muscle weakness, Kyphoscoliosis, Syringomyelia, Short neck, Hor... OMIM:109500
Sjögren-Larsson Syndrome
Scoliosis, Kyphosis ORPHA:816
Hypomelanosis Of Ito
Scoliosis, Kyphosis OMIM:300337
Microcephalic Primordial Dwarfism, Montreal Type
Scoliosis, Kyphosis, Vertebral segmentation defect ORPHA:2617
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Respiratory insufficiency,... ORPHA:628
Alpha-Mannosidosis
Macroglossia, Short neck, Scoliosis, Kyphosis ORPHA:61
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Facial paralysis, Abnormality of the autonomic nervous... ORPHA:79138
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Inability to walk, Obesity, Thoracolumbar scoliosis, Hyperlordosis, Ataxia, Unsteady gait, Scolio... OMIM:618443
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Platyspondyly, Thoracolumbar kyphosis, Small for gestational age, Neonatal inspiratory stridor, K... ORPHA:93360
Surfactant Metabolism Dysfunction, Pulmonary, 2
Cyanosis, Hypoxemia, Respiratory failure, Respiratory insufficiency OMIM:610913
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Optic atrophy, Elbow flexion contracture, Inability to walk, Obesity, Hip contracture, Unsteady g... OMIM:618493
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Kyphosis, Sacral dimple OMIM:618272
Leigh Syndrome
Optic atrophy, Failure to thrive, Ophthalmoplegia, Distal muscle weakness, Respiratory failure, M... ORPHA:506
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Knee flexion contracture, Thoracic scoliosis, Hydrocephalus, Kyphosis OMIM:603387
Mitochondrial Complex I Deficiency, Nuclear Type 1
Respiratory insufficiency, Cyanosis, Death in infancy, Optic disc pallor, Optic neuropathy, Respi... OMIM:252010
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Respiratory failure ORPHA:36238
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Opisthotonus, Cyanosis ORPHA:3304
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... OMIM:313400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Poor head control, Hydrocephalus, Respiratory failure OMIM:616538
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Scoliosis, Kyphosis OMIM:259440
Clark-Baraitser syndrome
Obesity, Scoliosis, Kyphosis OMIM:300602
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Generalized muscle weakness, Respiratory failure, Thoracic scoliosis OMIM:620278
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Cervical myelopathy, Hypoplasia of the odontoid process, Atlantoaxial instability,... OMIM:183900
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
3-Methylglutaconic Aciduria Type 7
Opisthotonus, Respiratory failure, Choreoathetosis ORPHA:445038
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Neutral Lipid Storage Myopathy
Gowers sign, Shoulder girdle muscle weakness, Neck muscle weakness, Progressive distal muscle wea... ORPHA:98908
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Dysdiadochokinesis, Difficulty walking, Neck muscle weakness, Foot dorsiflexor wea... ORPHA:171629
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Respiratory failure ORPHA:542323
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Scoliosis, Kyphosis OMIM:619797
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:608836
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Kyphosis OMIM:615433
Camurati-Engelmann Disease
Optic atrophy, Skeletal muscle atrophy, Abnormality of the vertebral column, Slender build, Optic... ORPHA:1328
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Obesity, Short neck, Kyphosis, Flexion contracture of toe ORPHA:3409
Emanuel Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Hydrocephalus, Torticollis, Joint contracture... OMIM:609029
Postencephalitic Parkinsonism
Akinesia, Paresthesia, Generalized muscle weakness, Camptocormia, Kyphosis ORPHA:97349
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Schisis Association
Encephalocele, Congenital diaphragmatic hernia, Spina bifida, Anencephaly, Small for gestational age ORPHA:63862
Arthrogryposis, Distal, Type 4
Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis, Torticollis, Camptodac... OMIM:609128
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Short neck, Beaking ... OMIM:607326
Frank-Ter Haar Syndrome
Beaking of vertebral bodies, Scoliosis, Kyphosis, Camptodactyly of finger ORPHA:137834
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure OMIM:617895
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology, Resting tremor OMIM:601162
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Respiratory insufficiency ORPHA:159
Achondroplasia
Thoracolumbar kyphosis, Cervical spinal canal stenosis, Lumbar hyperlordosis, Obesity, Hydrocepha... ORPHA:15
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Respiratory failure requiring assisted ventilation, Cyanosis, Exaggerated startle response OMIM:620423
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon, Obesity, Kyphosis ORPHA:261222
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Joint contracture of the 5th finger, Scoliosis, Kyphosis, Camptodactyly of finger ORPHA:1883
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Opisthotonus, Choreoathetosis OMIM:619580
Desbuquois Dysplasia 1
Platyspondyly, Neonatal respiratory distress, Obesity, Short neck, Hyperlordosis, Scoliosis, Kyph... OMIM:251450
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Failure to thrive, Obesity, Congenital diaphragmatic hernia, Scoli... ORPHA:261197
Idiopathic Pulmonary Fibrosis
Orthodeoxia, Acrocyanosis ORPHA:2032
Fliedner-Zweier Syndrome