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Gene: Musk MGI:103581

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
Skeletal muscle atrophy, Neck flexor weakness, Weakness of long finger extensor muscles, Upper li... ORPHA:98913
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Gowers sign, Ophthalmoplegia, Generalized muscle weakness, Fatigable weakness, Neck... OMIM:616325
Fetal Akinesia Deformation Sequence
Respiratory insufficiency, Scoliosis ORPHA:994
Fetal Akinesia Deformation Sequence 1
Hip contracture, Decreased muscle mass, Small for gestational age, Elbow contracture, Camptodacty... 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, Limb-girdle muscle weakness, Gowers sign, Ragged-red muscle... ORPHA:353327
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Ky... OMIM:617087
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Generaliz... OMIM:603034
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Bulbar palsy, Facial palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Genera... OMIM:608930
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Os odontoideum, Bulbar palsy, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial inst... OMIM:600561
Pure Mitochondrial Myopathy
Progressive external ophthalmoplegia, Lumbar hyperlordosis, Neck flexor weakness, Distal muscle w... ORPHA:254854
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Myasthenic Syndrome, Congenital, 13
Fatigable weakness, Muscle fiber tubular inclusions, Scoliosis, Proximal muscle weakness OMIM:614750
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Kyphosis, Inability to walk, Gait disturbance, Scoliosis, Joint contract... OMIM:611225
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Poor head control, Spinal rigidity, Respiratory insufficiency due to muscle weakness, Proximal mu... OMIM:300717
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Progressive external ophthalmoplegia, Bulbar palsy, Distal muscle weakness,... ORPHA:254875
Desminopathy
Thoracic kyphoscoliosis, Neck flexor weakness, Spinal rigidity, Respiratory insufficiency due to ... ORPHA:98909
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Neck flexor weakness, Weakness of long finger extensor muscles, Upper li... ORPHA:98913
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Distal muscle weakness, Kypho... ORPHA:101081
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Hand muscle atrophy, Intermittent episodes of respiratory insufficiency due to muscle weakness, O... OMIM:601462
Myopathy, Scapulohumeroperoneal
Neck flexor weakness, Facial palsy, Hyperlordosis, Progressive muscle weakness, Wrist drop, Scoli... OMIM:616852
Nemaline Myopathy 7
Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Fatty replacement of skeletal muscle, Gowers... OMIM:610687
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Distal muscle weakness, Proximal muscle weakness, Abnormal respiratory sy... ORPHA:266
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Distal muscle weakness, Ataxia, Impaired pain sensation, Decreased nerve... ORPHA:101078
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Distal muscle wea... OMIM:600175
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Waddling gait, Hip contracture, Scapular winging, Bulbar palsy, Broad-based gait, Spinal muscular... OMIM:615290
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Poor head control, Facial palsy, Abnormal motor nerve conduction velocity, ... OMIM:614399
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Poor head control, Generalized muscle weakness, Prolonged miniature endplate currents, Loss of am... OMIM:616321
Duchenne Muscular Dystrophy
Progressive muscle weakness, Respiratory insufficiency, Scoliosis, Proximal muscle weakness ORPHA:98896
Congenital Myopathy 10B, Mild Variant
Neck flexor weakness, Hyperlordosis, Reduced forced vital capacity, Progressive muscle weakness, ... OMIM:620249
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Proximal muscle weakness, Respiratory insufficienc... ORPHA:424107
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Short neck, Paucity of anterior horn motor neurons, Kypho... OMIM:611890
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Tremor, Dyspnea, Abnormality of the seventh c... ORPHA:90117
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Kyphoscoliosis, Ankle flex... OMIM:616668
Amyotrophic Lateral Sclerosis 27, Juvenile
Hyperlordosis, Progressive muscle weakness, Gowers sign, Generalized muscle weakness, Respiratory... OMIM:620285
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Kyphosis, Distal upper limb amyotr... ORPHA:101075
Muscular Dystrophy, Congenital, 1B
Facial palsy, Spinal rigidity, Gowers sign, Diaphragmatic weakness, Respiratory failure, Shoulder... OMIM:604801
Congenital Myopathy 23
Waddling gait, Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Gowers sign, Flexion co... OMIM:609285
Alpha-B Crystallin-Related Late-Onset Myopathy
Progressive distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle... ORPHA:399058
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Opht... OMIM:605809
Pyknoachondrogenesis
Stillbirth OMIM:265880
Myasthenic Syndrome, Congenital, 12
Waddling gait, Facial palsy, Proximal muscle weakness, Gowers sign, Ragged-red muscle fibers, Pro... OMIM:610542
Myasthenic Syndrome, Congenital, 6, Presynaptic
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Ophthalmoparesis, Fatigable weakn... OMIM:254210
Oculopharyngodistal Myopathy
Proximal muscle weakness in upper limbs, Progressive external ophthalmoplegia, Progressive distal... ORPHA:98897
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Increased muscle fatiguability, Facial palsy, Respiratory insufficiency OMIM:616323
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Respiratory insufficie... OMIM:300718
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Distal muscle weakness, Kyphoscoliosis, Proximal muscl... OMIM:605588
Distal Nebulin Myopathy
Neck flexor weakness, Progressive distal muscle weakness, Progressive proximal muscle weakness, S... ORPHA:399103
Laing Early-Onset Distal Myopathy
Distal muscle weakness, Progressive muscle weakness, Proximal muscle weakness in lower limbs, Nec... ORPHA:59135
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes... ORPHA:98912
Roussy-Lévy Syndrome
Impaired vibratory sensation, Skeletal muscle atrophy, Somatic sensory dysfunction, Decreased mot... ORPHA:3115
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Neck flexor weakness, Elbow contracture, Kyphoscoliosis, Spinal rigidity, Ankle ... OMIM:620386
Amyotrophic Lateral Sclerosis 8
Progressive muscle weakness, Amyotrophic lateral sclerosis, Distal muscle weakness, Proximal musc... OMIM:608627
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Restrictive ventilatory defect, Progressive proximal muscle weakness, Scoliosis, Exercise-induced... ORPHA:369847
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Spinal rigidity, Hyperlordosis, Kyphosis, Gowers sign, Proximal muscle weakness, Proximal amyotro... OMIM:617404
Multifocal Motor Neuropathy
Progressive muscle weakness, Limb muscle weakness, Motor conduction block, Progressive distal mus... ORPHA:641
Myasthenic Syndrome, Congenital, 14
Waddling gait, Scapular winging, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Limb-... OMIM:616228
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Kyphosis, Optic atrophy, Skeletal muscle hypertrophy, Gait distu... ORPHA:99014
Bethlem Myopathy 2
Scapular winging, Proximal muscle weakness, Kyphosis, Flexion contracture, Myopathy, Scoliosis, I... OMIM:616471
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Reduced forced vital capacity, Progressive muscle weakness, Respiratory insufficiency, Scoliosis,... OMIM:619518
Myasthenic Syndrome, Congenital, 25, Presynaptic
Poor head control, Spinal rigidity, Kyphosis, Decreased compound muscle action potential amplitud... OMIM:618323
Autosomal Recessive Centronuclear Myopathy
Facial palsy, Hyperlordosis, Progressive muscle weakness, Gowers sign, Ophthalmoplegia, Respirato... ORPHA:169186
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Hand muscle weakness, Prolonged miniature endplate currents, Axial muscl... ORPHA:98915
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Peroneal muscle weakness, Proximal muscle weakness, Hyperlordosis, Progressive muscle weakness, G... OMIM:611588
Myasthenic Syndrome, Congenital, 10
Waddling gait, Bulbar palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Axial... OMIM:254300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Elbow contracture, Vertebral fusion, Facial palsy, Hyperlordosis, Should... OMIM:606612
Myopathy, Centronuclear, 2
Waddling gait, Scapular winging, Distal muscle weakness, Facial palsy, Hyperlordosis, Centrally n... OMIM:255200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... OMIM:618138
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Lumbar hyperlordosis, Facial palsy, Proximal muscle weakness, Progressive proximal mus... OMIM:167320
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Lower limb muscle weakness, Respiratory insufficiency due... ORPHA:2590
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Failure to thrive, Muscle weakness, Respiratory insufficiency OMIM:616081
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal muscle weakness, K... ORPHA:99950
Mitochondrial Complex I Deficiency, Nuclear Type 29
Increased muscle fatiguability, Proximal muscle weakness, Dyspnea, Failure to thrive, Muscle weak... OMIM:618250
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Proximal muscle weakness in upper limbs, Amyotrophic late... OMIM:613954
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Distal muscle weakness, Ataxia, Impaired pain sensation, Kyphosis, Ophthalmoplegia, Unsteady gait... OMIM:618124
Congenital Muscular Dystrophy With Intellectual Disability
Neuropathic spinal arthropathy, Facial palsy, Fatigable weakness of skeletal muscles, Limb-girdle... ORPHA:370968
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Respiratory failure, Poor head control, Respiratory insu... OMIM:253300
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
Proximal muscle weakness in upper limbs, Progressive proximal muscle weakness, Distal lower limb ... ORPHA:399096
Immunoneurologic Disorder, X-Linked
Neonatal death, Progressive proximal muscle weakness, Small for gestational age OMIM:300076
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Hypokalemic Periodic Paralysis
Episodic flaccid weakness, Respiratory paralysis, Exercise-induced muscle fatigue, Late-onset pro... ORPHA:681
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Myopathy Due To Myoadenylate Deaminase Deficiency
Increased muscle fatiguability, Muscle weakness OMIM:615511
Typical Nemaline Myopathy
Neck flexor weakness, Short neck, Fatigable weakness of distal limb muscles, Limb-girdle muscle w... ORPHA:171436
Nemaline Myopathy 8
Death in infancy, Respiratory failure, Facial palsy OMIM:615348
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Muscle weakness, Respiratory failure OMIM:613435
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal muscle weakness, Small for gestational age, Decreased nerve conduction velocity, Tachypnea... OMIM:604320
Distal Myopathy With Anterior Tibial Onset
Limb-girdle muscle weakness, Progressive proximal muscle weakness, Neck muscle weakness, Tibialis... ORPHA:178400
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hyperlordosis, Gowers sign, Progressive muscle weakness, Restrictive ventilatory defect, Failure ... OMIM:600462
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Congenital Fiber-Type Disproportion Myopathy
Poor head control, Foot dorsiflexor weakness, Kyphoscoliosis, Hyperlordosis, Hypercapnia, Respira... ORPHA:2020
Triosephosphate Isomerase Deficiency
Respiratory distress, Optic disc pallor, Respiratory insufficiency due to muscle weakness, Kyphos... OMIM:615512
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Congenital Muscular Dystrophy Without Intellectual Disability
Kyphoscoliosis, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Ac... ORPHA:370980
Congenital Muscular Dystrophy, Ullrich Type
Spinal rigidity, Short neck, Kyphosis, Generalized muscle weakness, Diaphragmatic weakness, Respi... ORPHA:75840
Myopathy, Myofibrillar, 4
Progressive muscle weakness, Progressive proximal muscle weakness, Progressive distal muscle weak... OMIM:609452
Multiple Acyl-Coa Dehydrogenase Deficiency
Poor head control, Hyperlordosis, Proximal muscle weakness, Dyspnea, Cardiorespiratory arrest, Re... ORPHA:26791
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Marinesco-Sjogren Syndrome
Kyphosis, Failure to thrive, Progressive muscle weakness, Scoliosis OMIM:248800
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Congenital Myopathy 14
Apnea, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Generalized mu... OMIM:618414
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Proximal muscle weakness, Progressive muscle weakness, Respiratory failure,... OMIM:620166
Arts Syndrome
Progressive muscle weakness, Optic atrophy, Spinal cord posterior columns myelin loss OMIM:301835
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Congenital laryngeal stridor, Degeneration of anterior horn cells, Respiratory fai... ORPHA:2254
Oculopharyngeal Myopathy With Leukoencephalopathy 1
External ophthalmoplegia, Respiratory failure, Distal muscle weakness, Proximal muscle weakness OMIM:618637
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Small for gestational age, Optic atrophy, Respiratory failure, Asp... OMIM:619057
Spondylometaphyseal Dysplasia, X-Linked
Thoracolumbar scoliosis, Kyphosis, Respiratory insufficiency, Platyspondyly, Respiratory failure OMIM:313420
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Hereditary Motor And Sensory Neuropathy, Type Iic
Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Diaphra... OMIM:606071
Amish Nemaline Myopathy
Respiratory insufficiency due to muscle weakness, Progressive muscle weakness ORPHA:98902
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, Inability to walk, Obesi... OMIM:616756
Parastremmatic Dwarfism
Kyphosis, Flexion contracture, Scoliosis, Short neck OMIM:168400
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Bethlem Myopathy
Hypoventilation, Reduced maximal expiratory pressure, Lumbar hyperlordosis, Distal muscle weaknes... ORPHA:610
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Proximal m... OMIM:618484
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Bulbar palsy, Poor head control, Distal muscle we... ORPHA:70
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Progressive muscle weakness, Respiratory insufficiency OMIM:605355
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Poor head control, Facial palsy, Ophthalmoplegia, Flexion contracture, K... OMIM:616313
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Proximal muscle weakness, Kyphosis, Ophthalm... OMIM:617143
Myopathy And Diabetes Mellitus
Respiratory distress, Progressive proximal muscle weakness, Shoulder girdle muscle weakness, Weak... ORPHA:2596
Sandhoff Disease
Kyphosis, Failure to thrive, Ataxia, Muscle weakness ORPHA:796
Infantile Refsum Disease
Progressive muscle weakness, Failure to thrive, Optic atrophy, Facial palsy ORPHA:772
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Gowers sign, Limb-girdle muscle weakness, Progressive proximal muscle weakness, Generalized muscl... ORPHA:254361
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Distal mu... OMIM:145900
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Neck flexor weakness, Proximal muscle weakness, Quadriceps muscle weaknes... OMIM:603689
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Peroxisome Biogenesis Disorder 11B
Progressive muscle weakness, Muscle weakness OMIM:614885
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough OMIM:263000
Dimethylglycine Dehydrogenase Deficiency
Increased muscle fatiguability ORPHA:243343
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... ORPHA:536516
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa... ORPHA:98855
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Distal muscle weakness, Kyphoscoliosis, Distal sensory... OMIM:118220
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Failure to thrive, Ataxia, Facial myokymia OMIM:620007
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Fatigable weakness of bulbar muscle... ORPHA:803
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi... ORPHA:663
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Waddling gait, Vertebral fusion, Hyperlordosis, Proximal muscle weakness, Kyphosis, Achilles tend... OMIM:607155
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Distal muscle weakness, Kyphoscoliosis, Distal sensory... OMIM:180800
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Short neck, Decreased cervical spine flexion due to contractures of posterior cervical... ORPHA:98863
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Dimethylglycine Dehydrogenase Deficiency
Increased muscle fatiguability OMIM:605850
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Increased muscle fatiguability, Progressive external ophthalmoplegia OMIM:613077
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Fatiguable weakness of proximal limb muscles, Muscle ... ORPHA:2593
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Distal muscle weakness, Kyphoscoliosis, Distal sensory... OMIM:604563
Erythrocyte Lactate Transporter Defect
Exercise-induced muscle fatigue OMIM:245340
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Emery-Dreifuss Muscular Dystrophy
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa... ORPHA:98853
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Distal muscle weakness, Kyphoscoliosis, Distal sensory... OMIM:118200
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness OMIM:611067
Cdkl5-Deficiency Disorder
Poor head control, Impaired pain sensation, Kyphosis, Gait disturbance, Scoliosis, Difficulty wal... ORPHA:505652
Distal Myotilinopathy
Progressive proximal muscle weakness, Progressive distal muscle weakness ORPHA:98911
Amyotrophic Lateral Sclerosis 19
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis OMIM:615515
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Distal muscle weakness, Kyphoscoliosis, Proximal muscl... OMIM:607831
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea, Dystonia OMIM:616277
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure, Short neck ORPHA:1832
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Kyphosis, Impaired proprioception, Upper limb hypertonia, Failure t... ORPHA:319199
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... ORPHA:2302
Hyperekplexia 4
Respiratory failure, Kyphoscoliosis OMIM:618011
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Stormorken Syndrome
Increased muscle fatiguability, Epistaxis, Proximal muscle weakness OMIM:185070
Classic Glucose Transporter Type 1 Deficiency Syndrome
Choreoathetosis, Central apnea, Cyanosis, Dystonia ORPHA:71277
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... OMIM:265120
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Abnormality o... OMIM:276950
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Muscle weakness OMIM:616794
Tibial Muscular Dystrophy
Ankle weakness, Quadriceps muscle weakness, Proximal muscle weakness in lower limbs, Respiratory ... ORPHA:609
Brown-Vialetto-Van Laere Syndrome 2
Bulbar palsy, Ataxia, Facial palsy, Kyphoscoliosis, Optic atrophy, Generalized amyotrophy, Scolio... OMIM:614707
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness OMIM:619024
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Gowers sign, Ophthalmoplegia, Generalized muscle weakness, Fatigable weakness, Neck... OMIM:616325
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Kyphosis, Impaired vibration sensation in the lower limbs, Spastic ... OMIM:614409
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Bulbar palsy, Ataxia, Facial palsy, Proximal muscle... OMIM:211530
Charcot-Marie-Tooth Disease, Type 4D
Distal muscle weakness, Claw hand deformity, Kyphoscoliosis, Proximal muscle weakness, Impaired d... OMIM:601455
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Spinal rigidity, Respirator... OMIM:254090
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Abnormal intervertebral disk morphology, Myositis, Fatigable weakn... ORPHA:1320
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Dk1-Cdg
Progressive muscle weakness, Failure to thrive ORPHA:91131
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Respiratory failure, Death in infancy OMIM:618240
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive muscle weakness, Limb muscle weakness, Progressive external ophthalmoplegia, Proximal... OMIM:609286
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Kyphosis, Small for gestational age, Decreased body weight OMIM:618392
Intermediate Nemaline Myopathy
Facial palsy, Ophthalmoplegia, Generalized muscle weakness, Facial diplegia, Respiratory failure ORPHA:171433
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Congenital fibrosis of extraocular muscles, Restrictive partial external ophthalmoplegia OMIM:609384
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure OMIM:225753
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Progressive external ophthalmoplegia, Spinal rigidity, Respirator... ORPHA:352447
Creatine Phosphokinase, Elevated Serum
Increased muscle fatiguability OMIM:123320
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Progressive external ophthalmoplegia, Facial palsy, Progressive muscle weakness, Limb muscle weak... OMIM:610131
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Ataxia, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar v... OMIM:230650
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Ataxia, Kyphosis, Gait disturbance, Scoliosis, Muscle weakness ORPHA:85317
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... OMIM:156530
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Distal muscle weakness, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Impaired temp... OMIM:619574
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ... OMIM:602099
Glycogen Storage Disease Vii
Muscle weakness, Exercise-induced muscle fatigue OMIM:232800
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Abnormal anterior horn cell mor... ORPHA:1145
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Camptodactyly of finger, Acute rhabdomyolysis, Kyphosis, Dysmetria, Paresthesia, Scoliosi... ORPHA:48431
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Small for gestational age ORPHA:85288
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Muscle weakness, Exercise-induced muscle fatigue ORPHA:713
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... OMIM:610921
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Congenital muscular dystrophy, Gait disturbance ORPHA:1875
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Congenital Myopathy 21 With Early Respiratory Failure
Spinal rigidity, Dyspnea, Diaphragmatic weakness, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Corticosteroid-Binding Globulin Deficiency
Increased muscle fatiguability OMIM:611489
Ataxia-Oculomotor Apraxia Type 4
Somatic sensory dysfunction, Progressive distal muscular atrophy, Ataxia, Kyphoscoliosis, Obesity... ORPHA:459033
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Facial palsy, Proximal muscle weakness, External ophthalmoplegia, Abnormal respiratory... ORPHA:98905
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Optic atrophy, Limb ataxia, Gait ataxia, Dysmetria, Abnormal autonomic nervous system p... OMIM:610743
Leigh Syndrome
Ophthalmoplegia, Optic atrophy, Respiratory insufficiency, Respiratory failure, Failure to thrive... OMIM:256000
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Kyphosis, Lower limb hypertonia, Gait disturbance, Upper limb hyper... OMIM:614898
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Flexion contracture, Axial muscle weakness, Scoliosis, Arthrogryposis multi... ORPHA:178148
Mitochondrial Complex I Deficiency, Nuclear Type 15
Neonatal death, Kyphosis, Failure to thrive, Optic atrophy OMIM:618237
Hereditary Continuous Muscle Fiber Activity
Ataxia, Spastic gait, Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Xp21 Deletion Syndrome
Increased muscle fatiguability, Apneic episodes in infancy ORPHA:261476
Finnish Upper Limb-Onset Distal Myopathy
Progressive proximal muscle weakness, Progressive distal muscle weakness ORPHA:399086
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Poor head control, Respiratory insufficiency, Respiratory failure,... OMIM:245400
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... OMIM:610913
Muscular Dystrophy, Duchenne Type
Hypoventilation, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Gowers sign, Re... OMIM:310200
Masa Syndrome
Kyphosis, Hydrocephalus, Shuffling gait, Hyperlordosis OMIM:303350
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Sacral dimple, Respiratory insufficiency due to muscle weakness, Kyphosis, Respira... OMIM:618291
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Camptodactyly OMIM:618453
Thyrotoxic Periodic Paralysis
Obesity, Weight loss, Ophthalmoparesis, Episodic flaccid weakness, Respiratory paralysis, Exercis... ORPHA:79102
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Opisthotonus, Respiratory failure, Neonatal death, P... OMIM:605711
Hereditary Methemoglobinemia
Athetosis, Exertional dyspnea, Cyanosis, Limb dystonia ORPHA:621
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Respiratory insufficiency, Facial diplegia, Respirator... OMIM:618186
Chiari Malformation Type Ii
Cyanosis, Spina bifida, Opisthotonus, Cervical myelopathy, Syringomyelia, Inspiratory stridor OMIM:207950
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Generalized muscle weakness, Optic atrophy, Respiratory insufficiency OMIM:615330
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Exercise-induced muscle fatigue ORPHA:2364
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... OMIM:610910
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Gowers sign, Ragged-red muscle fibers, Axial muscle weakness, Generalized amy... OMIM:620351
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Optic atrophy, Respiratory insufficiency, Resp... OMIM:614299
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Apneic episodes precipitated by illness, fatigue, stress, Choreoathetosis, Respiratory fa... OMIM:312170
Spinocerebellar Ataxia Type 1
Postural tremor, Optic atrophy, Respiratory failure, Dystonia, Abnormal nerve conduction velocity... ORPHA:98755
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Myelitis ORPHA:71211
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Short neck, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita OMIM:618393
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Hyperlordosis, Respiratory insufficiency due to muscle weakness,... ORPHA:365
Tbck-Related Intellectual Disability Syndrome
Neurogenic bladder, Short neck, Progressive muscle weakness, Asthma, Respiratory insufficiency, S... ORPHA:488632
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure, Optic atrophy, Muscle weakness, Scoliosis OMIM:616505
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Neurogenic bladder, Orthostatic hypotension OMIM:263570
Congenital Myasthenic Syndrome
Limb-girdle muscle weakness, Muscle fiber atrophy, Frontalis muscle weakness, Waddling gait, Bulb... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Limb-girdle muscle weakness, Muscle fiber atrophy, Frontalis muscle weakness, Waddling gait, Bulb... ORPHA:98914
Sialidosis Type 2
Skeletal muscle atrophy, Ataxia, Kyphosis, Flexion contracture, Muscle weakness ORPHA:87876
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Vasculitis in the ... OMIM:620296
Myofibrillar Myopathy 10
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Left ve... OMIM:619040
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Progressive external ophthalmoplegia, Facial palsy, Spinal rigidi... OMIM:615084
Alg1-Cdg
Kyphosis, Respiratory failure, Scoliosis ORPHA:79327
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Abnormality of the musculature of the lower limbs, Ataxia, Kyphosis, Unsteady gait... ORPHA:464282
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Gait disturbance, Truncal obesity, Scoliosis ORPHA:2429
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Failure to thrive, Muscle weakness ORPHA:70472
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Total ophthalmoplegia, Progressive external ophthalmoplegia, Neck flexor weakness, Facial palsy, ... OMIM:157640
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr... ORPHA:2257
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... ORPHA:36238
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor, External ophthalmoplegia, Tachypnea, Respiratory failure, Failure to thrive, M... OMIM:615838
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Optic atrophy, Apnea, Central hypoventilation OMIM:618233
Acute Interstitial Pneumonia
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... ORPHA:79126
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Muscle weakness, Respiratory failure OMIM:616867
Van Den Bosch Syndrome
Scapular winging, Unfavorable response of muscle weakness to acetylcholine esterase inhibitors ORPHA:3417
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... OMIM:608647
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Myopathy, Generalized limb muscle atrophy, Scoliosis ORPHA:2598
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude OMIM:606353
Dopamine Beta-Hydroxylase Deficiency
Dyspnea, Orthostatic hypotension, Rhinitis, Exercise-induced muscle fatigue ORPHA:230
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Kyphosis, Inability to walk, Flexion contracture, Optic atrophy, Distal amyotr... OMIM:609541
Breath-Holding Spells
Cyanosis OMIM:607578
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
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis, Opisthotonus OMIM:250800
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ... OMIM:606070
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Obesity, Scoliosis ORPHA:276630
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
Flynn-Aird Syndrome
Skeletal muscle atrophy, Ataxia, Cachexia, Impaired pain sensation, Kyphosis, Scoliosis ORPHA:2047
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Distal amyotrophy, Scoliosis, Congenital foot contractures ORPHA:3454
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Respiratory failure, Tremor, Limb dystonia ORPHA:363400
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Sialidosis Type 1
Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Kyphosis, Abnormal form of ... ORPHA:812
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Hemivertebrae, Abnormal form of the vertebral bodies, Respiratory ... ORPHA:2759
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Failure to thrive, Myopathy, Scoliosis OMIM:618234
Partial Atrioventricular Septal Defect
Exercise-induced muscle fatigue, Exertional dyspnea ORPHA:1330
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Obesity, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal canal stenosis OMIM:301900
Infantile Krabbe Disease
Respiratory distress, Prolonged brainstem auditory evoked potentials, Poor head control, Cachexia... ORPHA:206436
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Progressive muscle weakness, Limb-girdle muscle weakness, Increased body weight, Pelvic girdle mu... ORPHA:79240
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Kyphosis, Chorea, Inability to walk, Gait ataxia, Limb hypertonia ORPHA:500180
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Unsteady gait, Ataxia, Scoliosis OMIM:300861
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Skeletal muscle atrophy, Ataxia, Kyphosis, Dysmetria, Ophthalmopare... ORPHA:88644
Winchester Syndrome
Kyphosis OMIM:277950
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Intention tremor OMIM:215470
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Kyphosis, Impaired vibration sensation in the lower limbs, Impaired proprioception, Gait ... ORPHA:88628
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Respiratory insuffi... OMIM:135100
Jaberi-Elahi Syndrome
Broad-based gait, Distal muscle weakness, Kyphosis, Inability to walk, Optic atrophy, Dysmetria, ... OMIM:617988
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... ORPHA:35689
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Cranial nerve compression, Abnormal motor neuron morphology, Weakn... ORPHA:52430
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Respiratory failure, ... ORPHA:3240
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch... OMIM:607625
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Lumbar hyperlordosis, Kyphosis, Hydrocephalus, Platyspondyly... OMIM:616482
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Tremor, Myelopathy, Cervical myelopathy, Bradypnea, Respiratory failure, Death in ch... OMIM:617186
Atypical Rett Syndrome
Total ophthalmoplegia, Impaired pain sensation, Kyphosis, Inability to walk, Gait ataxia, Gait di... ORPHA:3095
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis ORPHA:444013
Coenzyme Q10 Deficiency, Primary, 1
Progressive muscle weakness OMIM:607426
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level ORPHA:70578
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Progressive muscle weakness, Failure to thrive, Increased body weight ORPHA:264580
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure, Opisthotonus OMIM:610678
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Kyphosis, Optic atrophy, Choreoathetosis, Gait di... ORPHA:702
Immunodeficiency 54
Respiratory failure, Failure to thrive, Respiratory insufficiency OMIM:609981
Hemifacial Atrophy, Progressive
Kyphosis, Ataxia, Horner syndrome OMIM:141300
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Optic atrophy, Respiratory failure, Muscle flaccidity, Failure to ... ORPHA:2707
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Facial palsy, Hyperlordosis, Respiratory insufficiency, Pulmonary arterial hyper... ORPHA:258
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Proximal muscle weaknes... ORPHA:308552
Hsd10 Disease, Infantile Type
Choreoathetosis, Cyanosis, Optic atrophy, Dystonia ORPHA:391428
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
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Progressive proximal muscle weakness, Muscle weakness, Exertional dyspnea ORPHA:368
Choanal Atresia
Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno... ORPHA:137914
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Snakebite Envenomation
Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis ORPHA:449285
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Cyanosis, Apnea OMIM:261680
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO ORPHA:747
Ck Syndrome
Kyphosis, Slender build, Scoliosis, Hyperlordosis OMIM:300831
Rett Syndrome
Skeletal muscle atrophy, Cachexia, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ataxia OMIM:312750
Mcdonough Syndrome
Kyphosis, Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis ORPHA:2471
Uruguay Faciocardiomusculoskeletal Syndrome
Waddling gait, Left ventricular hypertrophy, Kyphoscoliosis, Kyphosis, Skeletal muscle hypertroph... OMIM:300280
Poliomyelitis
Respiratory failure requiring assisted ventilation, Bulbar palsy, Abnormal motor nerve conduction... ORPHA:2912
Idiopathic Pulmonary Hemosiderosis
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough, Failure to thrive ORPHA:99931
Hall-Riggs Syndrome
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure to thrive OMIM:234250
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age, Kyphosis, Congenital contracture, Joint contracture of the 5th finger,... ORPHA:352490
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Progressive muscle weakness, Failure to thrive, Distal muscle weakness OMIM:256810
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Generalized dystonia, Head... OMIM:205100
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Hydrocephalus, Abnorm... ORPHA:2635
Baralle-Macken Syndrome
Inability to walk, Kyphosis, Obesity OMIM:619255
Severe Congenital Nemaline Myopathy
Facial palsy, Ophthalmoplegia, Axial muscle weakness, Facial diplegia, Respiratory failure ORPHA:171430
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death OMIM:614922
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Progressive distal muscle weakness, Generalized muscle weakness, Re... ORPHA:746
Congenital Tracheomalacia
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... ORPHA:95430
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Generalized muscle weakness, Respiratory insufficiency, Respiratory fa... OMIM:609015
Ataxia-Telangiectasia-Like Disorder 2
Progressive muscle weakness, Muscle weakness OMIM:615919
Mercury Poisoning
Respiratory distress, Tremor, Dyspnea, Respiratory failure, Interstitial pneumonitis, Dystonia ORPHA:330021
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Respiratory insufficiency ORPHA:93941
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Neurogenic bladder, Recurrent pneumonia, Opti... ORPHA:496641
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Ophthalmop... OMIM:220110
Congenital Heart Block
Pleural effusion, Cyanosis, Crackles ORPHA:60041
Zimmermann-Laband Syndrome 3
Kyphosis, Flexion contracture OMIM:618658
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Distal muscle weakness, Facial palsy, Short neck, Kyphosis, Achilles tendon cont... OMIM:301041
Wieacker-Wolff Syndrome
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, Distal amyotroph... OMIM:314580
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy, Apnea, Respiratory failure OMIM:617301
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Hydrocephalus, Gait disturbance, Scoliosis ORPHA:2181
Intellectual Developmental Disorder, Autosomal Dominant 26
Small for gestational age, Kyphosis, Arthrogryposis multiplex congenita, Scoliosis OMIM:615834
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Optic neuropathy, Tremor, Dyspnea, Optic atrophy, Respiratory insufficiency, De... OMIM:610505
Tricuspid Atresia
Cyanosis ORPHA:1209
Sandestig-Stefanova Syndrome
Respiratory failure, Small for gestational age, Short neck OMIM:618804
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology ORPHA:275872
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Inability to wal... OMIM:128100
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Schaaf-Yang Syndrome
Failure to thrive in infancy, Kyphosis, Inability to walk, Flexion contracture, Obesity, Scoliosi... OMIM:615547
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Kyphosis, Gait ataxia, Macroglossia, Abdominal obesity OMIM:300354
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... ORPHA:449280
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Limb joint contracture, Increased in... ORPHA:93314
Combined Oxidative Phosphorylation Deficiency 37
Poor head control, Optic atrophy, Respiratory insufficiency, Respiratory failure, Failure to thrive OMIM:618329
Buerger Disease
Acrocyanosis ORPHA:36258
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Arthrogryposis, Distal, Type 5
Decreased muscle mass, Kyphosis, Ophthalmoplegia, Distal arthrogryposis, Firm muscles, Scoliosis,... OMIM:108145
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ... OMIM:253000
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Tremor, Jaundice, Hypopnea, Respiratory failure, Dystonia, Neonatal deat... OMIM:617248
Subaortic Stenosis-Short Stature Syndrome
Short neck, Kyphosis, Obesity, Respiratory insufficiency, Scoliosis ORPHA:3191
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Obesity, Respiratory failure, Paroxysmal dyspnea, Pulmonary... ORPHA:563
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Limb dystonia, Respiratory failure, Death in childhood, Opisthotonus OMIM:619847
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Failure to thrive, Poor head control ORPHA:280210
Pulmonary Capillary Hemangiomatosis
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... ORPHA:199241
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Productive cough, Hydrocephalus, Wheezing, Bronchiectasis, Respira... ORPHA:244
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... ORPHA:2038
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Lopes-Maciel-Rodan Syndrome
Kyphosis, Unsteady gait, Scoliosis OMIM:617435
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Respiratory failure ORPHA:1194
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure, Failure to thrive, Poor head control, Muscle weakness ORPHA:88618
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:1548
15Q24 Microdeletion Syndrome
Small for gestational age, Congenital diaphragmatic hernia, Kyphosis, Myelomeningocele, Obesity, ... ORPHA:94065
Bruck Syndrome 1
Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Vertebral wedgin... OMIM:259450
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Bu... ORPHA:79138
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage, Opisthotonus ORPHA:335
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia, Hemivertebrae, Scoliosis, Failure to thrive, Decreased body mass... ORPHA:370079
Pulmonary Alveolar Microlithiasis
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:60025
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology OMIM:221770
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Acrocyanosis, Intention tremor OMIM:614407
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Slender build, Scoliosis OMIM:300676
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Impaired pain sensation, Kyphoscoliosis, Obesity, Camptodactyly,... ORPHA:412035
Zimmermann-Laband Syndrome 2
Macroglossia, Kyphosis, Short neck OMIM:616455
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Failure to thrive, Respiratory insufficiency OMIM:613845
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Apnea, Scoliosis OMIM:619797
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Distal muscle weakness, Facial hypotonia, Kyphosis, Scoliosis, Abnormality of... ORPHA:364028
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Contracture of the proximal interphalangeal joint of the 3rd finger, Kyphosis, Contracture of the... OMIM:130060
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Brachyolmia Type 3
Short neck, Spinal cord compression, Kyphosis, Platyspondyly, Scoliosis OMIM:113500
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Thoracic scoliosis, Generalized muscle weakness, Respiratory failure, Chylo... OMIM:620278
Thanatophoric Dysplasia Type 2
Encephalocele, Kyphosis, Hydrocephalus, Respiratory insufficiency, Platyspondyly, Holoprosencephaly ORPHA:93274
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Hydrocephalus, Spinal canal stenosis, Obesity, Hypoxemia, Restric... ORPHA:15
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Neurogenic bladder, Degeneration of anterior horn cells, ... ORPHA:276244
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... ORPHA:555874
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Weight loss ORPHA:3226
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis OMIM:615761
Gm1 Gangliosidosis
Ataxia, Camptodactyly of finger, Hyperlordosis, Kyphosis, Aplasia/Hypoplasia of the abdominal wal... ORPHA:354
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the... OMIM:183900
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Camptodactyly of finger, Congenital diaphragmatic hernia... ORPHA:2311
Radio-Renal Syndrome
Respiratory distress, Short neck, Dyspnea, Abnormal form of the vertebral bodies, Respiratory fai... ORPHA:3015
Dravet Syndrome
Cyanotic episode, Action tremor ORPHA:33069
Alexander Disease
Ataxia, Facial palsy, Hyperlordosis, Aqueductal stenosis, Kyphosis, Short neck, Hydrocephalus, Ch... ORPHA:58
Bruck Syndrome
Kyphosis, Platyspondyly, Respiratory insufficiency, Scoliosis ORPHA:2771
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Respiratory failure OMIM:620327
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Crisponi Syndrome
Kyphosis, Respiratory insufficiency, Scoliosis ORPHA:1545
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, ... ORPHA:93360
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... ORPHA:90051
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Respiratory insufficiency, Platysp... ORPHA:2655
Becker Nevus Syndrome
Shoulder girdle muscle atrophy, Kyphosis, Spina bifida occulta, Scoliosis ORPHA:64755
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Poor head control, Facial palsy, Hydrocephalus, Optic atrophy, Respiratory fai... OMIM:259720
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Choreoathetosis, Cyanosis, Apnea, Opisthotonus OMIM:619580
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Spinal cord compression, Kyphosis, Short neck, Fused cervical vertebrae ORPHA:2522
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Obesity, Hyperlordosis ORPHA:3085
Boutonneuse Fever
Respiratory failure, Petechiae ORPHA:83313
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal cord compressi... ORPHA:94068
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Gait disturbance ORPHA:85193
Basilar Impression, Primary
Kyphoscoliosis, Short neck, Horner syndrome, Syringomyelia, Abnormal cervical myelogram, Limb mus... OMIM:109500
Neutral Lipid Storage Myopathy
Progressive distal muscle weakness, Gowers sign, Progressive proximal muscle weakness, Obesity, S... ORPHA:98908
Pelger-Huet Anomaly
Kyphosis, Lower limb hypertonia, Failure to thrive, Foot dorsiflexor weakness OMIM:169400
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory failure ORPHA:1861
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Mucolipidosis Iii Gamma
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:252605
Cockayne Syndrome Type 2
Ataxia, Kyphosis, Flexion contracture, Gait disturbance, Scoliosis, Difficulty walking, Limb hype... ORPHA:90322
3-Methylglutaconic Aciduria Type 7
Choreoathetosis, Respiratory failure, Pneumothorax, Opisthotonus ORPHA:445038
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Sjögren-Larsson Syndrome
Kyphosis, Scoliosis ORPHA:816
Leigh Syndrome
Distal muscle weakness, Ophthalmoplegia, Optic atrophy, Respiratory failure, Failure to thrive, A... ORPHA:506
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology, Optic atrophy, Ataxia ORPHA:324737
Mitochondrial Complex I Deficiency, Nuclear Type 1
Optic disc pallor, Death in infancy, Cyanosis, Apnea, Optic neuropathy, Respiratory insufficiency... OMIM:252010
Diastrophic Dysplasia
Kyphosis, Abnormal form of the vertebral bodies, Respiratory insufficiency, Scoliosis, Hypoplasti... ORPHA:628
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Choreoathetosis... ORPHA:209905
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:2617
Alpha-Mannosidosis
Macroglossia, Kyphosis, Scoliosis, Short neck ORPHA:61
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa... OMIM:608836
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Respiratory distress, Decreased motor nerve c... ORPHA:79139
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple, Large for gestational age OMIM:618272
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Thoracic scoliosis, Kyphosis, Hydrocephalus, Knee flexion contracture OMIM:603387
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Kyphosis, Inability to walk, Unsteady gait, Elbow flexion contracture, Obesity, ... OMIM:618493
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Inability to walk, Unsteady gait, Obesi... OMIM:618443
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Opisthotonus ORPHA:3304
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... ORPHA:1329
Clark-Baraitser syndrome
Kyphosis, Obesity, Scoliosis OMIM:300602
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Poor head control, Respiratory failure OMIM:616538
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Tachypnea ORPHA:860
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis, Ophthalmoplegia, Optic atrophy, Dysmetria, Lower limb hypertonia, Dysdiadochokinesis, N... ORPHA:171629
Neutral Lipid Storage Disease With Ichthyosis
Progressive proximal muscle weakness, Shoulder girdle muscle weakness, Obesity ORPHA:98907
Malignant Atrophic Papulosis
Muscle flaccidity, Pleural effusion, Respiratory failure, Weight loss ORPHA:679
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Alobar holoprosencephaly OMIM:615433
Camurati-Engelmann Disease
Waddling gait, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, ... ORPHA:1328
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Short neck, Kyphosis, Obesity, Flexion contracture of toe ORPHA:3409
Tetrasomy 5P
Respiratory distress, Pulmonary arterial hypertension, Cyanosis ORPHA:3309
Arthrogryposis, Distal, Type 4
Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis,... OMIM:609128
Emanuel Syndrome
Sacral dimple, Torticollis, Congenital diaphragmatic hernia, Kyphosis, Hydrocephalus, Scoliosis, ... OMIM:609029
Smith-Mccort Dysplasia 1
Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability... OMIM:607326
Schisis Association
Encephalocele, Small for gestational age, Congenital diaphragmatic hernia, Spina bifida, Anencephaly ORPHA:63862
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Camptodactyly of finger, Scoliosis ORPHA:137834
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Neonatal asphyxia, Erythema, Recurrent pneumonia, Telangi... ORPHA:420741
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Aganglionic megacolon, Obesity ORPHA:261222
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology, Resting tremor OMIM:601162
Postencephalitic Parkinsonism
Camptocormia, Akinesia, Kyphosis, Generalized muscle weakness, Paresthesia ORPHA:97349
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Joint contracture of the 5th finger, Camptodactyly of finger, Scoliosis ORPHA:1883
Desbuquois Dysplasia 1
Neonatal respiratory distress, Hyperlordosis, Short neck, Kyphosis, Obesity, Platyspondyly, Scoli... OMIM:251450
Ethylene Glycol Poisoning
Cyanosis, Facial palsy, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration ORPHA:31826
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Ataxia, Kyphosis, Hydrocephalus, Optic atrophy, Platyspondyly, Difficul... OMIM:618476
Aicardi-Goutieres Syndrome 1
Dystonia, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Choreoathetosis, Scoliosis, Failure to thrive, Abnormal... ORPHA:261197
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis ORPHA:896
Mucopolysaccharidosis, Type Ivb
Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Cervical mye... OMIM:253010
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Cutis marmorata, Asthma, Respiratory insufficiency, Urticaria, Cough, Acrocyanosis, Pu... ORPHA:183
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Failure to thrive, Short neck OMIM:608776
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency OMIM:617239
Poems Syndrome
Papilledema, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pu... ORPHA:2905
Mucopolysaccharidosis, Type Ii
Papilledema, Short neck, Kyphosis, Hydrocephalus, Asthma, Recurrent pneumonia, Cervical cord comp... OMIM:309900
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Congenital muscular torticollis, Kyphosis, Hemivertebrae, Abnormal form of the ... ORPHA:2916
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona... ORPHA:99106
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Generalized dystonia, Tremor, Optic atrophy, Dystonia, Or... OMIM:614298
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Distal muscle weakness, Neck flexor weakness,... ORPHA:273
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Kyphosis, Hydrocephalus, Flexion contracture, Gait disturbance, Scoliosis, Failure to... ORPHA:500055
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Kyphosis, Macroglossia, Failure to thrive ORPHA:583
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Cardiorespiratory arrest, Respiratory failure, Scoliosis ORPHA:3342
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Kyphosis, Optic atrophy, Abnormal form of the vertebral bodies, Gait dis... ORPHA:192
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Abetalipoproteinemia
Kyphoscoliosis, Ophthalmoplegia, Respiratory failure, Failure to thrive, Distal lower limb muscle... ORPHA:14
Genitopalatocardiac Syndrome
Kyphosis, Hydrocephalus, Congenital diaphragmatic hernia, Scoliosis ORPHA:2075
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small for gestational age, Tachypnea, Respiratory insufficiency, Respiratory failure, Scoliosis, ... OMIM:613658
Rhizomelic Syndrome, Urbach Type
Kyphosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Developmental Malformations-Deafness-Dystonia Syndrome
Macroglossia, Kyphosis, Scoliosis ORPHA:79107
Double Outlet Right Ventricle
Cyanosis, Tachypnea ORPHA:3426
Hemorrhagic Fever-Renal Syndrome
Back pain, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleur... ORPHA:340
Lateral Meningocele Syndrome
Vertebral fusion, Neurogenic bladder, Tethered cord, Short neck, Kyphosis, Hydrocephalus, Meningo... OMIM:130720
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Optic atrophy, Megalopapilla, Respiratory... OMIM:615636
4Q21 Microdeletion Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:238750
Difference Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Spina bifida occulta, Short neck ORPHA:2983
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Bulbar palsy, Apnea, Kyphosis, Optic atrophy, Respiratory insufficiency, Failure to thrive OMIM:617527
Lateral Meningocele Syndrome
Hyperlordosis, Short neck, Kyphosis, Meningocele, Abnormal form of the vertebral bodies, Dural ec... ORPHA:2789
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Camptodactyly of finger, Cachexia, Short neck, Kyphosis, Obesity, Scoliosis ORPHA:85293
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Verteb... OMIM:219090
Ruvalcaba Syndrome
Kyphosis, Scoliosis OMIM:180870
Fountain Syndrome
Spina bifida, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta ORPHA:3219
Plaa-Associated Neurodevelopmental Disorder
Bulbar palsy, Apnea, Kyphosis, Optic atrophy, Respiratory insufficiency, Failure to thrive ORPHA:521426
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Spinal arteriovenous malformation, Palate tel... OMIM:187300
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Diastasis recti, Short neck, Hypoplasia of the odon... OMIM:253220
Meckel Syndrome 14
Pneumothorax, Cyanosis, Cardiorespiratory arrest OMIM:619879
Pseudoachondroplasia
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,... OMIM:177170
Trisomy 20P
Camptodactyly of finger, Spina bifida, Short neck, Kyphosis, Abnormal form of the vertebral bodie... ORPHA:261318
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Respiratory insufficiency, Platysp... ORPHA:1860
Schwartz-Jampel Syndrome
Hip contracture, Abnormally ossified vertebrae, Skeletal muscle atrophy, Shoulder flexion contrac... ORPHA:800
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Gait disturbance, Scol... ORPHA:582
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... ORPHA:99104
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis, Truncal obesity, Skeletal muscle atrophy OMIM:219080
2P15P16.1 Microdeletion Syndrome
Camptodactyly of finger, Facial palsy, Optic nerve hypoplasia, Kyphosis, Optic atrophy, Gait dist... ORPHA:261349
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Acrocyanosis, Purpura ORPHA:343
Fucosidosis
Kyphosis, Decreased muscle mass, Failure to thrive, Anterior beaking of lumbar vertebrae ORPHA:349
Lambert-Eaton Myasthenic Syndrome
Progressive proximal muscle weakness, Abnormal autonomic nervous system physiology, Orthostatic h... ORPHA:43393
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Thoracolumbar scoliosis, Congenital diaphragmatic hernia, Short neck... OMIM:265000
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Lethal Acantholytic Erosive Disorder
Respiratory failure, Fragile skin ORPHA:158687
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... ORPHA:508533
Marden-Walker Syndrome
Decreased muscle mass, Short neck, Kyphosis, Congenital contracture, Scoliosis, Camptodactyly, Jo... OMIM:248700
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Pulmonary arterial hypertension, Scoliosis OMIM:259420
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Dystonia, Tachypnea, Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:618278
Myhre Syndrome
Vertebral fusion, Small for gestational age, Short neck, Obesity, Respiratory insufficiency, Enla... OMIM:139210
3C Syndrome
Short neck, Kyphosis, Hydrocephalus, Optic atrophy, Hemivertebrae, Scoliosis ORPHA:7
Tarp Syndrome
Optic atrophy, Cyanosis, Apnea ORPHA:2886
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Pontocerebellar Hypoplasia, Type 17
Kyphosis, Respiratory insufficiency OMIM:619909
Unilateral Polymicrogyria
Giant somatosensory evoked potentials, Cyanosis, Apnea, Epistaxis ORPHA:268943
19P13.12 Microdeletion Syndrome
Short neck, Kyphosis, Obesity, Scoliosis, Arthrogryposis multiplex congenita ORPHA:254346
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Nijmegen Breakage Syndrome
Cachexia, Short neck, Recurrent pneumonia, Respiratory failure, Muscle weakness ORPHA:647
Histiocytoid Cardiomyopathy
Optic atrophy, Cyanosis, Tachypnea, Cough ORPHA:137675
Dyggve-Melchior-Clausen Disease
Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl... OMIM:223800
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased sensitivity to hypoxemia, Orthostatic hypotension, Acrocyanosis OMIM:223900
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae ORPHA:958
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Kyphosis, Scoliosis ORPHA:261144
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Kyphosis, Scapular winging, Scoliosis OMIM:617061
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Camptodactyly, Failure to thrive OMIM:617602
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Joint contracture, Scoliosis OMIM:615381
Esophageal Atresia
Respiratory distress, Cyanosis, Episodic respiratory distress, Chronic pulmonary obstruction, Res... ORPHA:1199
Listeriosis
Respiratory distress, Miscarriage, Pneumonia, Tremor, Jaundice, Respiratory failure ORPHA:533
Trisomy 13
Kyphosis, Optic atrophy, Scoliosis ORPHA:3378
Hurler-Scheie Syndrome
Camptodactyly of finger, Thenar muscle atrophy, Kyphosis, Contracture of the distal interphalange... OMIM:607015
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Stickler Syndrome, Type I
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... OMIM:108300
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, We... ORPHA:31204
Harrod Syndrome
Kyphosis, Failure to thrive, Scoliosis ORPHA:2115
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Inability to walk, Flexion contracture, Optic atrophy, Failure t... OMIM:618651
3M Syndrome
Scapular winging, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis ORPHA:2616
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Marshall-Smith Syndrome
Thoracic scoliosis, Failure to thrive, Apnea, Optic nerve hypoplasia, Kyphoscoliosis, Hypoplasia ... OMIM:602535
Bloom Syndrome
Small for gestational age, Pneumonia, Chronic pulmonary obstruction, Respiratory failure, Rhiniti... ORPHA:125
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... OMIM:610655
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Kyphosis, Flexion contracture, Dysmetria, Failure to thrive, Muscle weakness OMIM:212065
Absence Of The Pulmonary Artery
Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni... ORPHA:980
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Distal Triplication 15Q
Large for gestational age, Kyphosis, Hydrocephalus, Flexion contracture, Scoliosis, Camptodactyly ORPHA:314588
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Short neck ORPHA:3082
Dysostosis, Stanescu Type
Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosis ORPHA:1798
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Cachexia, Scoliosis, Skeletal muscle atrophy ORPHA:1969
Costello Syndrome
Short neck, Hydrocephalus, Pneumothorax, Respiratory insufficiency, Vestibular schwannoma, Respir... OMIM:218040
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis, Limb hypertonia OMIM:617190
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction ORPHA:141127
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis ORPHA:3121
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Aganglionic megacolon, Hyperlordosis, Kyphosis, Myopathy, Scoliosis OMIM:162300
Niemann-Pick Disease Type C
Axial dystonia, Dystonia, Tremor, Jaundice, Respiratory insufficiency, Respiratory failure, Aspir... ORPHA:646
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large for ge... ORPHA:457359
Multiple Pterygium-Malignant Hyperthermia Syndrome
Congenital muscular torticollis, Skeletal muscle atrophy, Camptodactyly of finger, Kyphosis, Scol... ORPHA:2215
Pycnodysostosis
Hyperlordosis, Overweight, Kyphosis, Stridor, Spondylolysis, Scoliosis, Spondylolisthesis ORPHA:763
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Short neck, Kyphosis, Respiratory insufficiency, Scoliosis, T... ORPHA:140
Cono-Spondylar Dysplasia
Kyphosis, Failure to thrive, Scoliosis, Short neck ORPHA:420794
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Kyphosis, Hydrocephalus, Flexion contracture, Abnormal form of the vertebral bod... ORPHA:3042
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Kyphosis, Failure to thrive, Scoliosis, Gait ataxia ORPHA:476126
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Failure to thrive, Small for gestational age OMIM:618252
Cole-Carpenter Syndrome
Communicating hydrocephalus, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Ataxia, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, Gait ... OMIM:300966
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Short neck, Large for gestational age, Hemivertebrae, Spinal dysraphism, Restrict... ORPHA:96334
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Small for gestational age, Kyphosis, Hypotrophy of the small han... OMIM:610443
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Cardiorespiratory arrest, Abnormal au... ORPHA:293987
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Pleural effusion, Cyanosis, Apnea OMIM:261740
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, Hydrocephalus, Camptodactyly of finger, Scoliosis OMIM:619951
Hurler Syndrome
Short neck, Hypoplasia of the odontoid process, Kyphosis, Hydrocephalus, Flexion contracture, Mac... OMIM:607014
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Ataxia, Scoliosis ORPHA:2479
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis OMIM:609008
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Kyphosis, Optic atrophy, Dysmetria, Knee flexion contracture OMIM:619708
Cerebrocostomandibular Syndrome
Neonatal respiratory distress, Spina bifida, Tracheomalacia, Kyphosis, Myelomeningocele, Meningoc... ORPHA:1393
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis OMIM:617478
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly, Hydrocephalus OMIM:616294
Myasthenia Gravis
Dyspnea, Acrocyanosis ORPHA:589
Hyperoxaluria, Primary, Type I
Optic atrophy, Acrocyanosis, Cutis marmorata, Optic neuropathy OMIM:259900
Alstrom Syndrome
Kyphosis, Asthma, Recurrent pneumonia, Truncal obesity, Scoliosis OMIM:203800
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Tip-toe gait, Scol... OMIM:618050
Otopalatodigital Syndrome, Type Ii
Kyphoscoliosis, Spina bifida, Short neck, Hydrocephalus, Respiratory insufficiency, Platyspondyly... OMIM:304120
Gm1-Gangliosidosis, Type I
Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebral bodies OMIM:230500
Familial Dysautonomia
Orthostatic hypotension, Acrocyanosis, Optic atrophy ORPHA:1764
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis, Failure to thrive, Muscle weakness OMIM:239000
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Failure to thrive, Small for gestational age, Ankle flexion contracture, Kypho... ORPHA:464311
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Hyperlordosis, Large for gestational age, Kyphosis, Gait ataxia, Sco... OMIM:617011
Marden-Walker Syndrome
Skeletal muscle atrophy, Camptodactyly of finger, Kyphosis, Hydrocephalus, Abnormal form of the v... ORPHA:2461
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Failure to thrive ORPHA:2554
Cockayne Syndrome
Skeletal muscle atrophy, Somatic sensory dysfunction, Optic disc pallor, Ataxia, Neurogenic bladd... ORPHA:191
Shprintzen Omphalocele Syndrome
Neonatal respiratory distress, Lumbar hyperlordosis, Kyphosis, Scoliosis, Decreased body weight OMIM:182210
Wolf-Hirschhorn Syndrome
Sacral dimple, Ataxia, Congenital diaphragmatic hernia, Kyphosis, Optic atrophy, Abnormal form of... ORPHA:280
Microphthalmia, Lenz Type
Camptodactyly of finger, Hyperlordosis, Kyphosis, Optic disc coloboma, Scoliosis ORPHA:568
Rett Syndrome, Congenital Variant
Kyphosis, Chorea, Athetosis, Scoliosis OMIM:613454
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Respiratory failure, Large for gestational age, Short neck OMIM:300868
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Scoliosis ORPHA:404440
Magel2-Related Prader-Willi-Like Syndrome
Impaired temperature sensation, Kyphosis, Flexion contracture, Increased body weight, Abdominal o... ORPHA:398069
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Recurrent pneumonia, Pulmonary arterial hypertension, Scoliosis OMIM:616449
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Sacral dimple, Dyspnea, Hydrocephalus, Respiratory failure, Failure to thrive ORPHA:2556
Pitt-Hopkins Syndrome
Acrocyanosis, Aganglionic megacolon, Abnormal pattern of respiration, Hyperventilation ORPHA:2896
Cockayne Syndrome A
Hip contracture, Ataxia, Abnormal auditory evoked potentials, Decreased nerve conduction velocity... OMIM:216400
Micro Syndrome
Kyphosis, Optic atrophy, Scoliosis ORPHA:2510
Cohen Syndrome
Failure to thrive in infancy, Kyphosis, Optic atrophy, Obesity, Scoliosis ORPHA:193
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Fragile skin ORPHA:79404
Prader-Willi Syndrome
Decreased muscle mass, Failure to thrive in infancy, Impaired pain sensation, Kyphosis, Obesity, ... OMIM:176270
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Failure to thrive in infancy, Optic nerve hypoplasia, Kyphoscoliosis, Optic... ORPHA:500150
Iniencephaly
Encephalocele, Spina bifida, Hyperlordosis, Congenital diaphragmatic hernia, Myelomeningocele, Ab... ORPHA:63259
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Multiple joint contractures, Small for gestational age, Kyphosis, Gait disturb... ORPHA:464306
Cockayne Syndrome B
Ataxia, Small for gestational age, Abnormal auditory evoked potentials, Decreased nerve conductio... OMIM:133540
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Truncal obesity OMIM:610475
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:1005
Pentalogy Of Cantrell
Encephalocele, Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Scoliosis ORPHA:1335
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Optic disc pallor, Neurogenic bladder, Kyphosis, Flexion contracture, Un... ORPHA:90324
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Short neck, Dyspnea, Abno... ORPHA:2636
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Kyphosis, Neonatal respiratory distress, Scoliosis, Decreased body weight OMIM:619005
Koolen-De Vries Syndrome
Vertebral fusion, Vertebral segmentation defect, Kyphosis, Scoliosis ORPHA:96169
16Q24.3 Microdeletion Syndrome
Kyphosis, Optic nerve hypoplasia, Scoliosis ORPHA:261250
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Fraser Syndrome 2
Respiratory failure, Short neck OMIM:617666
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Kyphosis, Hypopnea, Restrictive ventilatory defect, Scoliosis, Aspiration... OMIM:619482
Monosomy 9Q22.3
Rhabdomyosarcoma, Short neck, Large for gestational age, Kyphosis, Hydrocephalus, Abnormality of ... ORPHA:77301
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Inability to walk, Difficulty walking, Scoliosis, Contracture of the proximal interphal... ORPHA:464738
Primary Hyperoxaluria
Optic atrophy, Acrocyanosis, Cutis marmorata, Optic disc pallor ORPHA:416
Double Outlet Left Ventricle
Cyanosis, Tachypnea ORPHA:3427
Goodpasture Syndrome
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... OMIM:233450
Alkaptonuria
Vertebral fusion, Low back pain, Kyphosis, Thickened Achilles tendon, Intervertebral disc degener... OMIM:203500
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Kyphosis, Hemivertebrae, Macroglossia, Scoliosis OMIM:301040
Mgat2-Cdg
Respiratory distress, Kyphosis, Failure to thrive, Scoliosis ORPHA:79329
Noonan Syndrome 14
Kyphosis, Scapular winging, Short neck OMIM:619745
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis, Hydrocephalus, Dural ectasia OMIM:616914
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Osteogenesis Imperfecta
Somatic sensory dysfunction, Ataxia, Cervical kyphosis, Small for gestational age, Kyphosis, Hydr... ORPHA:666
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Abnormal spinal cord morphology, Spinal canal stenosis, Fused cervica... ORPHA:1724
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea ORPHA:99050
Aortic Arch Interruption
Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea ORPHA:2299
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Short neck, Kyphosis, Optic disc coloboma, Vertebral segmentation defect... ORPHA:251014
Ramon Syndrome
Optic disc pallor, Kyphosis, Scoliosis, Decreased body weight OMIM:266270
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Abnormality of the peripheral nervous system, Vascu... ORPHA:48435
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure ORPHA:731
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Mucolipidosis Type Ii
Hip contracture, Diastasis recti, Kyphosis, Inability to walk, Knee flexion contracture, Weight l... ORPHA:576
Koolen-De Vries Syndrome Due To A Point Mutation
Sacral dimple, Small for gestational age, Spina bifida, Hyperlordosis, Kyphosis, Hydrocephalus, O... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Sacral dimple, Small for gestational age, Spina bifida, Hyperlordosis, Kyphosis, Hydrocephalus, O... ORPHA:363958
Mend Syndrome
Sacral dimple, Abnormal auditory evoked potentials, Kyphosis, Hydrocephalus, Failure to thrive, L... ORPHA:401973
Weaver Syndrome
Diastasis recti, Kyphosis, Scoliosis, Camptodactyly, Joint contracture of the hand OMIM:277590
X-Linked Intellectual Disability, Snyder Type
Decreased muscle mass, Kyphoscoliosis, Kyphosis, Inability to walk, Unsteady gait, Camptodactyly ORPHA:3063
Osteogenesis Imperfecta, Type Iv
Kyphosis, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis, Truncal obesity OMIM:610489
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Waddling gait, Lumbar hyperlordosis, Camptodactyly of finger, Kyphoscoliosis, Short neck, Kyphosi... OMIM:143095
Gaucher Disease Type 1
Kyphosis, Vertebral compression fracture, Pulmonary arterial hypertension ORPHA:77259
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure, Generalized abnormality of skin ORPHA:805
Cowden Syndrome 5
Kyphosis, Scoliosis OMIM:615108
Dermatomyositis
Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Pulmonary arterial... ORPHA:221
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul... ORPHA:97214
Marfan Syndrome
Spontaneous pneumothorax, Cachexia, Kyphosis, Meningocele, Dural ectasia, Scoliosis, Emphysema, S... ORPHA:558
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Pulmonary arterial hyper... ORPHA:740
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ataxia, Kyphoscoliosis, Kyphosis, Left ventricular noncompaction, Scoliosis, Slender build, Right... OMIM:300967
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress, Kyphosis, Syringomyelia, Spondylolysis, Scol... OMIM:119600
Spondyloenchondrodysplasia
Kyphosis, Platyspondyly, Chorea ORPHA:1855
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Torticollis, Broad-based gait, Ataxia, Overweight, Kyphosis, Hydrocephalus, Obesity, A... OMIM:619475
Classic Homocystinuria
Kyphosis, Optic atrophy, Scoliosis, Pulmonary embolism ORPHA:394
Cowden Syndrome 6
Kyphosis, Scoliosis OMIM:615109
Hajdu-Cheney Syndrome
Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Hydrocephalus, Syringomyelia, Scoliosis, ... ORPHA:955
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Bilateral camptodactyly, Scoliosis OMIM:619557
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis OMIM:619244
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cyanosis OMIM:306955
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th... OMIM:618223
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Poland Syndrome
Encephalocele, Congenital diaphragmatic hernia, Short neck, Kyphosis, Aplasia of the pectoralis m... ORPHA:2911
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Impaired temperature sensation, Kyphosis ORPHA:536532
Atelis Syndrome 2
Kyphosis, Sacral dimple, Dysmetria OMIM:620185
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Craniorachischisis
Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dys... ORPHA:63260
Cowden Syndrome
Ataxia, Kyphosis, Macroglossia, Scoliosis, Failure to thrive ORPHA:201
Aicardi-Goutières Syndrome
Cutis marmorata, Tremor, Prolonged neonatal jaundice, Dystonia, Acrocyanosis ORPHA:51
Cowden Syndrome 1
Kyphosis, Scoliosis OMIM:158350
Osteogenesis Imperfecta, Type Viii
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis OMIM:610915
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Short neck, Kyphosis, Scoliosis, Camptodactyly OMIM:616894
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Broad-based gait, Small for gestational age, Ataxia, Failure to thrive in infancy,... ORPHA:268261
Ulbright-Hodes Syndrome
Respiratory distress, Short neck, Pneumothorax, Ovoid thoracolumbar vertebrae, Respiratory failure ORPHA:3404
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Macro... OMIM:619194
Cardiofacioneurodevelopmental Syndrome
Kyphosis, Camptodactyly OMIM:619123
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Congenital diaphragmatic hernia, Short neck, Kyphosis, Optic atrophy, Abno... ORPHA:818
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrophy, Kyphosis, Contracture of ... ORPHA:2232
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... OMIM:259770
Stickler Syndrome
Skeletal muscle atrophy, Cachexia, Kyphosis, Spinal canal stenosis, Abnormal form of the vertebra... ORPHA:828
Frank-Ter Haar Syndrome
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Prominent coccyx, Camptodactyly OMIM:249420
Fetal Akinesia Deformation Sequence
Respiratory insufficiency, Scoliosis ORPHA:994
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosi... ORPHA:287
1P36 Deletion Syndrome
Camptodactyly of finger, Kyphosis, Optic atrophy, Spinal canal stenosis, Obesity, Myopathy, Gait ... ORPHA:1606
Mend Syndrome
Kyphosis, Sacral dimple, Failure to thrive, Hydrocephalus OMIM:300960
Zttk Syndrome
Kyphosis, Flexion contracture, Hemivertebrae, Optic atrophy, Scoliosis, Failure to thrive OMIM:617140
Lenz-Majewski Hyperostotic Dwarfism
Kyphosis, Hydrocephalus, Facial palsy, Scoliosis ORPHA:2658
Autosomal Recessive Robinow Syndrome
Sacral dimple, Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation defect, Scol... ORPHA:1507
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Decreased muscle mass, Small for gestational age, Kyphosis, Hydr... OMIM:194190
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Cdags Syndrome
Kyphosis OMIM:603116
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... ORPHA:99125
Lymphedema-Distichiasis Syndrome
Kyphosis, Chylothorax OMIM:153400
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Scoliosis OMIM:619718
Truncus Arteriosus
Cyanosis, Tachypnea ORPHA:3384
Oculocerebrorenal Syndrome Of Lowe
Kyphosis, Respiratory insufficiency, Platyspondyly, Scoliosis, Failure to thrive ORPHA:534
Williams Syndrome
Sacral dimple, Ataxia, Failure to thrive in infancy, Hyperlordosis, Kyphosis, Obesity, Abnormal f... ORPHA:904
Aspartylglucosaminuria
Kyphosis, Macroglossia, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral bodies, Spo... OMIM:208400
Neurofibromatosis Type 1
Ataxia, Kyphosis, Hydrocephalus, Paresthesia, Scoliosis ORPHA:636
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Coffin-Siris Syndrome 1
Sacral dimple, Congenital diaphragmatic hernia, Kyphosis, Gait ataxia, Scoliosis, Spina bifida oc... OMIM:135900
Occipital Horn Syndrome
Kyphosis, Orthostatic hypotension, Platyspondyly OMIM:304150
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Acrocyanosis, Apnea ORPHA:285
Generalized Arterial Calcification Of Infancy
Respiratory distress, Pulmonary arterial hypertension, Cyanosis ORPHA:51608
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Camptodactyly of finger, Kyphosis, Platyspondyly, Scoliosis, Joint contracture... OMIM:309000
Primrose Syndrome
Hip contracture, Skeletal muscle atrophy, Ataxia, Kyphosis, Flexion contracture, Knee flexion con... OMIM:259050
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Aganglionic megacolon, Camptodactyly of finger, Kyphosis, Platyspondyly, Abnormality of the verte... ORPHA:2273
Acromegaly
Macroglossia, Kyphosis, Paresthesia, Spinal canal stenosis ORPHA:963
Somatomammotropinoma
Macroglossia, Kyphosis, Paresthesia, Spinal canal stenosis ORPHA:314769
Wrinkly Skin Syndrome
Scapular winging, Hypoplasia of the musculature, Kyphosis, Scoliosis, Failure to thrive OMIM:278250
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis ORPHA:85199
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Coffin-Lowry Syndrome
Kyphosis, Decreased body weight, Scoliosis, Lumbar kyphosis OMIM:303600
Spondyloepimetaphyseal Dysplasia, X-Linked
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi... OMIM:300106
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:198
Proteus Syndrome
Decreased muscle mass, Cachexia, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Myof... ORPHA:744
17Q11 Microdeletion Syndrome
Kyphosis, Dural ectasia, Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3,... ORPHA:97685
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis ORPHA:99413
Mosaic Monosomy X
Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis ORPHA:99228
Monosomy X
Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis ORPHA:99226
Turner Syndrome
Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis ORPHA:881
Viss Syndrome
Kyphosis, Asthma, Pneumothorax, Hypereosinophilia, Dyspnea, Scoliosis, Pulmonary arterial hyperte... OMIM:619472
Branchiooculofacial Syndrome
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Elbow flexion contracture OMIM:113620
Hydrolethalus Syndrome 1
Agenesis of the diaphragm, Anencephaly, Severe hydrocephalus OMIM:236680
Sotos Syndrome
Hip contracture, Sacrococcygeal teratoma, Aganglionic megacolon, Ankle flexion contracture, Kypho... ORPHA:821
Yunis-Varon Syndrome
Small for gestational age, Anterior concavity of thoracic vertebrae, Failure to thrive in infancy... OMIM:216340
Alström Syndrome
Respiratory distress, Optic disc pallor, Thoracic scoliosis, Kyphosis, Chronic pulmonary obstruct... ORPHA:64
Fetal Akinesia Deformation Sequence 1
Hip contracture, Decreased muscle mass, Small for gestational age, Elbow contracture, Camptodacty... OMIM:208150

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Musk

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Musk.

No publications found that use IMPC mice or data for Musk.

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