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Gene: Gsx2 MGI:95843

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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:
GS homeobox 2
Synonyms:
Gsh2,  Gsh-2

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 Gsx2 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 Gsx2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
OMIM:618646

The table below shows human diseases predicted to be associated to Gsx2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy, Cerebellar vermis hypoplasia, Apnea OMIM:610992
Dandy-Walker Syndrome
Dilated fourth ventricle, Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, Hy... OMIM:220200
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Chiari Malformation Type Ii
Cervical myelopathy, Hydrocephalus, Spina bifida, Myelomeningocele, Dysphagia, Cyanosis, Inspirat... OMIM:207950
Perching Syndrome
Respiratory distress, Cyanosis, Dysphagia OMIM:617055
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Death in infancy, Ventriculomegaly, Central apnea, Respiratory failure OMIM:611722
Laryngotracheal Angioma
Intercostal retractions, Cough, Apnea, Respiratory distress, Cyanosis, Stridor, Wheezing ORPHA:137935
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Cerebellar hypoplasia, Apnea OMIM:615228
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Laryngotracheoesophageal Cleft
Impaired oropharyngeal swallow response, Neonatal respiratory distress, Aspiration, Dyspnea, Coug... ORPHA:2004
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Joubert Syndrome 23
Tachypnea, Apnea, Cerebellar dysplasia, Dysplastic corpus callosum OMIM:616490
Obsolete: Arnold-Chiari Malformation Type Ii
Partial agenesis of the corpus callosum, Hydrocephalus, Myelomeningocele, Meningocele, Aqueductal... ORPHA:1136
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Agenesis of cerebellar vermis, Hydrocephalus, Ventriculomegaly, Episodic tachypnea, Dysphagia, Da... ORPHA:163961
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Central sleep apnea, Apnea, Ventriculomegaly, Cerebellar atrophy, ... ORPHA:168486
Cryptogenic Organizing Pneumonia
Dyspnea, Restrictive ventilatory defect, Cough, Hypoxemia, Respiratory distress, Crackles, Pneumo... ORPHA:1302
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Pontocerebellar Hypoplasia Type 2
Impaired oropharyngeal swallow response, Cerebellar cyst, Ventriculomegaly, Apnea, Dysplastic cor... ORPHA:2524
Interstitial Pneumonitis, Desquamative, Familial
Cough, Respiratory distress, Respiratory failure, Tachypnea, Cyanosis OMIM:263000
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Death in infancy, Respiratory failure, Apnea OMIM:613869
Chronic Pneumonitis Of Infancy
Intercostal retractions, Hyperventilation, Cough, Hypoxemia, Respiratory distress, Reduced forced... ORPHA:91359
Joubert Syndrome 30
Ventriculomegaly, Apnea, Cerebellar atrophy, Superior cerebellar dysplasia, Tachypnea, Dandy-Walk... OMIM:617622
Epilepsy, Early-Onset, Vitamin B6-Dependent
Respiratory insufficiency, Ventriculomegaly, Apnea OMIM:617290
Bronchopulmonary Dysplasia
Dyspnea, Abnormal respiratory system physiology, Cough, Chronic lung disease, Respiratory distres... ORPHA:70589
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Pontocerebellar Hypoplasia Type 4
Olivopontocerebellar hypoplasia, Central apnea, Respiratory failure requiring assisted ventilation ORPHA:166063
Coach Syndrome 2
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hydrocephalus, Apneic episodes in infancy OMIM:619111
Myoclonus, Intractable, Neonatal
Dysphagia, Impaired oral bolus formation, Dandy-Walker malformation, Apnea OMIM:617235
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Respiratory distress, Dy... OMIM:254210
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
Joubert Syndrome 9
Episodic tachypnea, Ventriculomegaly, Encephalocele, Apnea OMIM:612285
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Pulmonary arterial hypertension, Dyspnea, Death in infancy, Apnea,... OMIM:265120
Laryngeal Abductor Paralysis
Cyanosis, Stridor, Dysphagia OMIM:150260
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Respiratory distress, Dy... OMIM:605809
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Neonatal death, Apnea, Respiratory failure, Cerebellar atrophy OMIM:610127
Asbestos Intoxication
Dyspnea, Wheezing, Late inspiratory crackles, Decreased DLCO, Restrictive ventilatory defect, Hyp... ORPHA:2302
Pontocerebellar Hypoplasia, Type 16
Hypoplasia of the pons, Ventriculomegaly, Dysphagia, Apnea, Cerebellar hypoplasia OMIM:619527
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Erythema, Lateral ventricle dilatation, Neonatal death, Apnea OMIM:610015
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Dyspnea, Cough, Paraseptal emphysema, Hypoxemia, Death in infancy,... OMIM:610921
Hereditary Methemoglobinemia
Cyanosis, Cerebellar atrophy, Exertional dyspnea ORPHA:621
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Chronic pulmonary obstruction, Cough, Respiratory distress, Cyan... ORPHA:2414
Mitochondrial Complex I Deficiency, Nuclear Type 6
Sleep apnea, Ventriculomegaly, Respiratory insufficiency, Apnea OMIM:618228
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum OMIM:615771
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Pontocerebellar Hypoplasia, Type 6
Death in childhood, Apnea, Cerebellar hypoplasia, Cerebellar atrophy, Cerebellar vermis hypoplasia OMIM:611523
Pulmonary Alveolar Proteinosis, Acquired
Inspiratory crackles, Dyspnea, Decreased DLCO, Restrictive ventilatory defect, Cough, Hypoxemia, ... OMIM:610910
Choanal Atresia
Tracheomalacia, Chronic sinusitis, Respiratory distress, Upper airway obstruction, Cyanosis, Chok... ORPHA:137914
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Ravine Syndrome
Apnea ORPHA:99852
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Restrictive ventilatory defect, Abnormal breath sound, Hypoxemia, ... ORPHA:2257
Surfactant Metabolism Dysfunction, Pulmonary, 2
Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Respiratory insufficiency, Cough, Hypox... OMIM:610913
Joubert Syndrome 3
Neonatal breathing dysregulation, Elongated superior cerebellar peduncle, Lateral ventricle dilat... OMIM:608629
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory insufficiency due to muscle weakness, Lateral ventricle dilatation, Ventriculomegaly,... OMIM:618291
Dandy-Walker Malformation With Postaxial Polydactyly
Agenesis of cerebellar vermis, Hydrocephalus, Dilated fourth ventricle, Partial absence of cerebe... OMIM:220220
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Apneic episodes in infancy ORPHA:500545
Breath-Holding Spells
Cyanosis OMIM:607578
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Infant Acute Respiratory Distress Syndrome
Tachypnea, Hypoxemia, Pneumonia, Respiratory failure, Nasal flaring, Cyanosis ORPHA:70587
Mitochondrial Complex I Deficiency, Nuclear Type 5
Respiratory insufficiency, Dysphagia, Cerebellar atrophy, Apnea OMIM:618226
Developmental And Epileptic Encephalopathy 61
Apnea OMIM:617933
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Reduced vital capacity, Respiratory failure, Cyanosis, Orthopnea,... ORPHA:98913
Mitochondrial Complex I Deficiency, Nuclear Type 33
Aspiration pneumonia, Respiratory insufficiency, Apnea, Dysphagia, Ventriculomegaly, Bronchiectas... OMIM:618253
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Ventriculomegaly, Cerebellar atrophy, Apnea OMIM:619797
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Cerebellar vermis hypoplasia, Lateral ventricle dilatation ORPHA:284417
Pyruvate Dehydrogenase E1-Alpha Deficiency
Apneic episodes precipitated by illness, fatigue, stress, Agenesis of corpus callosum, Respirator... OMIM:312170
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Occipital encephalocele, ... ORPHA:370959
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus, Apnea, Abnormal pattern of respiration, Agenesis of corpus callosum... ORPHA:220497
Nemaline Myopathy 2
Dysphagia, Respiratory insufficiency due to muscle weakness, Apnea OMIM:256030
Acute Interstitial Pneumonia
Dyspnea, Tachypnea, Decreased DLCO, Hypoxemia, Bronchiectasis, Respiratory failure, Nonproductive... ORPHA:79126
D-2-Hydroxyglutaric Aciduria 1
Inspiratory stridor, Lateral ventricle dilatation, Apnea OMIM:600721
Intellectual Developmental Disorder, Autosomal Dominant 48
Dysgenesis of the cerebellar vermis, Hyperactivity, Cerebellar dysplasia, Lateral ventricle dilat... OMIM:617751
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Lateral ventricle dilatation, Ventriculomegaly, Dysphagia, Dysplastic corpus callosum, Cyanosis ORPHA:488627
Mitochondrial Complex I Deficiency, Nuclear Type 10
Central hypoventilation, Sleep apnea, Dysphagia, Apnea, Respiratory failure OMIM:618233
Congenital Myasthenic Syndrome
Intermittent episodes of respiratory insufficiency due to muscle weakness, Central sleep apnea, C... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Intermittent episodes of respiratory insufficiency due to muscle weakness, Central sleep apnea, C... ORPHA:98914
Myasthenic Syndrome, Congenital, 24, Presynaptic
Respiratory insufficiency, Dysphagia, Apnea OMIM:618198
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea, Cerebellar atrophy ORPHA:320385
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia, Apnea, Episodic tachypnea, Dysphagia, Cerebellar atrophy ORPHA:79264
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Hypoxemia, Cyanosis ORPHA:464453
Developmental And Epileptic Encephalopathy 99
Central apnea, Cerebellar atrophy, Ventriculomegaly OMIM:619606
Folinic Acid-Responsive Seizures
Respiratory distress, Cerebellar atrophy, Apnea ORPHA:79097
Mitochondrial Complex I Deficiency, Nuclear Type 4
Death in childhood, Apnea OMIM:618225
Auriculocondylar Syndrome 2
Respiratory distress, Snoring, Apnea OMIM:614669
Joubert Syndrome With Ocular Defect
Encephalocele, Hydrocephalus, Apnea, Abnormal pattern of respiration, Agenesis of corpus callosum... ORPHA:220493
Tetrasomy 5P
Pulmonary arterial hypertension, Hydrocephalus, Respiratory distress, Cerebellar hypoplasia, Cyan... ORPHA:3309
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Ventriculomegaly, Agitation, Apnea, Hyperventilation OMIM:617903
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Colpocephaly, Dysgenesis of the cerebellar vermis, Meningocele, Occipital encephalocele, Elongate... ORPHA:397715
Severe X-Linked Intellectual Disability, Gustavson Type
Lateral ventricle dilatation, Dilated fourth ventricle, Cerebellar hypoplasia, Dandy-Walker malfo... ORPHA:3078
Mitochondrial Complex I Deficiency, Nuclear Type 13
Death in infancy, Apnea OMIM:618235
Joubert Syndrome
Encephalocele, Hydrocephalus, Apnea, Episodic tachypnea, Abnormal pattern of respiration, Cerebel... ORPHA:475
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Attention deficit hyperactivity disorder, Ventriculomegaly, Apnea, Cyanosis, Cerebellar atrophy, ... OMIM:619580
Autoimmune Pulmonary Alveolar Proteinosis
Dyspnea, Decreased DLCO, Restrictive ventilatory defect, Cough, Hypoxemia, Cyanosis, Crackles ORPHA:747
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Mitochondrial Complex I Deficiency, Nuclear Type 14
Apnea OMIM:618236
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Inferior cerebellar vermis hypoplasia, Dilated fourth ventricle, Retrocerebel... OMIM:614831
Joubert Syndrome 7
Encephalocele, Neonatal breathing dysregulation, Episodic tachypnea, Central apnea, Tachypnea OMIM:611560
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypercapnia, Respiratory insufficiency, Ventriculomegaly, Apnea, Apneic episodes in infancy OMIM:618222
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in childhood, Neonatal respiratory distress, Hypopnea, Death in infancy, Apnea, Respiratory... OMIM:618426
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Apnea, Tachypnea, Cerebellar vermis hypoplasia ORPHA:2318
48,Xxyy Syndrome
Ventriculomegaly, Asthma, Attention deficit hyperactivity disorder, Apnea ORPHA:10
2Q24 Microdeletion Syndrome
Central apnea ORPHA:1617
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Stridor, Paroxysmal dyspnea, Respiratory failure ORPHA:444013
Spinocerebellar Ataxia, Autosomal Recessive 2
Cerebellar vermis atrophy, Dilated fourth ventricle, Cerebellar hypoplasia OMIM:213200
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Central hypoventilation, Apnea OMIM:619483
Congenital Tracheomalacia
Intercostal retractions, Neonatal respiratory distress, Pulmonary arterial hypertension, Dyspnea,... ORPHA:95430
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Cerebellar vermis atrophy, Dilated fourth ventricle OMIM:619054
Pontocerebellar Hypoplasia, Type 7
Hydrocephalus, Hypoplasia of the pons, Ventriculomegaly, Apnea, Cerebellar hypoplasia OMIM:614969
Lissencephaly Due To Tuba1A Mutation
Partial agenesis of the corpus callosum, Ventriculomegaly, Dilated fourth ventricle, Dysplastic c... ORPHA:171680
Poretti-Boltshauser Syndrome
Cerebellar cyst, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar dysplasia OMIM:615960
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis OMIM:610773
Tricuspid Atresia
Cyanosis ORPHA:1209
Meckel Syndrome, Type 10
Occipital encephalocele, Dilated fourth ventricle, Anencephaly, Cerebellar hypoplasia, Dandy-Walk... OMIM:614175
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar cyst, Elongated superior ... ORPHA:370022
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Aplasia/Hypoplasia of the cerebellar vermis, Apnea ORPHA:137754
3-Methylglutaconic Aciduria, Type Viii
Jaundice, Hypopnea, Death in infancy, Apnea, Dysphagia, Ventriculomegaly, Neonatal death, Respira... OMIM:617248
Pseudo-Torch Syndrome 3
Respiratory insufficiency, Death in infancy, Cerebellar hypoplasia, Apnea OMIM:618886
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Palmoplantar cutis laxa, Hydrocephalus, Neonatal death, Respirat... OMIM:616482
Buerger Disease
Acrocyanosis ORPHA:36258
Tenorio Syndrome
Ventriculomegaly, Recurrent pneumonia, Hydrocephalus, Apnea OMIM:616260
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea OMIM:619048
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Respiratory insufficiency, Central hypoventilation, Apnea OMIM:300673
Pulmonary Capillary Hemangiomatosis
Dyspnea, Decreased DLCO, Hypoxemia, Elevated pulmonary artery pressure, Exertional dyspnea, Cyano... ORPHA:199241
Joubert Syndrome 2
Encephalocele, Thickened superior cerebellar peduncle, Dysgenesis of the cerebellar vermis, Agene... OMIM:608091
Hsd10 Disease, Infantile Type
Cyanosis, Dysphagia, Restlessness ORPHA:391428
Gaucher Disease, Perinatal Lethal
Ventriculomegaly, Respiratory distress, Purpura, Dysphagia, Apnea, Neonatal death, Petechiae OMIM:608013
Autosomal Recessive Cutis Laxa Type 2A
Dandy-Walker malformation, Dysplastic corpus callosum, Cerebellar malformation, Progeroid facial ... ORPHA:357058
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia, Hyperactivity, Choking episodes, Apneic episodes in infancy, Cerebellar atr... ORPHA:35069
Leigh Syndrome With Leukodystrophy
Apnea ORPHA:255241
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea OMIM:261680
Pulmonary Arteriovenous Malformation
Pulmonary arterial hypertension, Dyspnea, Cough, Hypoxemia, Telangiectasia, Pleural empyema, Cyan... ORPHA:2038
Combined Oxidative Phosphorylation Deficiency 57
Neonatal death, Death in infancy, Central hypoventilation, Apnea OMIM:620167
Myasthenic Syndrome, Congenital, 20, Presynaptic
Dysphagia, Stridor, Hypoventilation, Apnea OMIM:617143
Joubert Syndrome 33
Apnea OMIM:617767
Atypical Rett Syndrome
Episodic tachypnea, Sudden episodic apnea, Agitation, Abnormal pattern of respiration ORPHA:3095
Congenital Myopathy 11
Neonatal respiratory distress, Apneic episodes in infancy OMIM:619967
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Cerebellar hypoplasia, Acrocyanosis OMIM:614407
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Ventriculomegaly, Respiratory failure, Apnea OMIM:617301
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus, Apnea, Respiratory distress, Cyanosis, Pleural effusion OMIM:261740
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea OMIM:615031
Histiocytoid Cardiomyopathy
Hydrocephalus, Cough, Cerebellar malformation, Tachypnea, Cyanosis, Agenesis of corpus callosum ORPHA:137675
Myotonia Fluctuans
Choking episodes, Stridor, Apnea ORPHA:99734
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bronchospasm, Cardiorespiratory arrest, Apnea, Abnormal pattern of respiration, Stridor OMIM:608800
Joubert Syndrome 1
Occipital myelomeningocele, Dysgenesis of the cerebellar vermis, Hyperactivity, Agenesis of cereb... OMIM:213300
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Abnormal cerebellum morphology, Agitation, Apnea OMIM:618056
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysphagia, Olivopontocerebellar atrophy, Central apnea, Cerebellar atrophy OMIM:615157
Meckel Syndrome 14
Occipital encephalocele, Cardiorespiratory arrest, Holoprosencephaly, Pneumothorax, Cyanosis OMIM:619879
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Respiratory insufficiency, Death in infancy, Apnea, Ventriculomega... OMIM:608836
Joubert Syndrome 6
Thickened superior cerebellar peduncle, Elongated superior cerebellar peduncle, Breathing dysregu... OMIM:610688
Leigh Syndrome With Cardiomyopathy
Central hypoventilation, Respiratory distress, Dysphagia, Apnea, Ventriculomegaly, Respiratory fa... ORPHA:70474
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Death in infancy, Apnea OMIM:614498
Encephalopathy, Ethylmalonic
Petechiae, Death in infancy, Acrocyanosis OMIM:602473
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Occipital encephalocele, Apnea, Aplasia/Hypoplasia of the cerebellum, Abnormal pat... ORPHA:1454
Leukodystrophy, Hypomyelinating, 4
Apnea OMIM:612233
Sepsis In Premature Infants
Jaundice, Dyspnea, Abnormal respiratory system physiology, Purpura, Petechiae, Nasal flaring, Cya... ORPHA:90051
Spinocerebellar Ataxia, Autosomal Recessive 33
Dilated fourth ventricle, Cerebellar hypoplasia OMIM:620208
Dravet Syndrome
Cyanotic episode, Impulsivity ORPHA:33069
Microtia-Anotia
Holoprosencephaly OMIM:600674
Pulmonary Alveolar Microlithiasis
Dyspnea, Tachypnea, Restrictive ventilatory defect, Respiratory insufficiency, Hypoxemia, Bronchi... ORPHA:60025
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ventriculomegaly, Hydrocephalus, Apnea ORPHA:395
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourth ventricle ORPHA:1170
Joubert Syndrome 21
Encephalocele, Dyspnea, Chronic sinusitis, Occipital encephalocele, Elongated superior cerebellar... OMIM:615636
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis, Dyspnea ORPHA:439
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Intermittent hyperventilation, Ventriculomegaly, Respiratory distress, Episodic tachypne... ORPHA:348
Carnitine-Acylcarnitine Translocase Deficiency
Respiratory insufficiency, Cyanosis, Sudden episodic apnea ORPHA:159
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Apnea OMIM:300055
Orofaciodigital Syndrome Xvi
Ventriculomegaly, Apnea OMIM:617563
Peroxisome Biogenesis Disorder 11A (Zellweger)
Apnea OMIM:614883
Complete Atrioventricular Septal Defect
Intercostal retractions, Wheezing, Pulmonary venous hypertension, Elevated pulmonary artery press... ORPHA:1329
Congenital Fibrinogen Deficiency
Cyanosis, Subcutaneous hemorrhage, Bruising susceptibility ORPHA:335
Hypophosphatasia, Infantile
Stillbirth, Death in infancy, Apnea OMIM:241500
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Hypoxemia, Tachypnea ORPHA:860
Congenital Tricuspid Valve Dysplasia
Tachypnea, Hypoxemia, Respiratory failure, Respiratory failure requiring assisted ventilation, Cy... ORPHA:555874
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia ORPHA:251347
Congenital Disorder Of Glycosylation, Type Ij
Respiratory insufficiency, Jaundice, Apnea OMIM:608093
Pancreatic And Cerebellar Agenesis
Agenesis of cerebellar vermis, Cerebellar agenesis, Death in infancy, Apnea, Reduced subcutaneous... OMIM:609069
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea OMIM:616896
Myasthenic Syndrome, Congenital, 21, Presynaptic
Respiratory insufficiency, Cyanosis, Apnea OMIM:617239
Auriculocondylar Syndrome 1
Snoring, Apnea OMIM:602483
Central Hypoventilation Syndrome, Congenital, 1
Hypercapnia, Hypoxemia, Hypoventilation, Central hypoventilation, Apnea, Nocturnal hypoventilation OMIM:209880
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Respiratory insufficiency, Cerebellar cortical atrophy, ... ORPHA:521426
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy OMIM:610006
Gaucher Disease, Type Ii
Cough, Death in infancy, Apnea, Dysphagia, Stridor, Recurrent aspiration pneumonia OMIM:230900
Marshall-Smith Syndrome
Death in childhood, Pulmonary arterial hypertension, Aspiration pneumonia, Hydrocephalus, Apnea, ... OMIM:602535
Eosinophilic Granulomatosis With Polyangiitis
Respiratory insufficiency, Cough, Urticaria, Dysphagia, Sinusitis, Purpura, Cutis marmorata, Asth... ORPHA:183
Propionic Acidemia
Tachypnea, Apnea OMIM:606054
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Apnea ORPHA:439218
Criss-Cross Heart
Respiratory insufficiency, Cyanosis ORPHA:1461
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Apnea OMIM:314580
Mucopolysaccharidosis Type 1
Cough, Sinusitis, Hydrocephalus, Apnea ORPHA:579
Peroxisome Biogenesis Disorder 2A (Zellweger)
Death in childhood, Jaundice, Apnea OMIM:214110
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Apnea, Hyperventilation OMIM:229700
Fatal Familial Insomnia
Dysphagia, Apnea OMIM:600072
Esophageal Atresia
Aspiration, Chronic pulmonary obstruction, Laryngotracheomalacia, Restrictive ventilatory defect,... ORPHA:1199
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Respiratory insufficiency, Ventriculomegaly, Dysphagia, Apnea OMIM:617527
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Aspiration pneumonia, Hypoventilation, Apnea, Respiratory distress, Recurrent pneumonia ORPHA:314655
Developmental And Epileptic Encephalopathy 90
Apneic episodes in infancy OMIM:301058
Aicardi-Goutieres Syndrome 1
Erythema, Prolonged neonatal jaundice, Purpura, Petechiae, Cerebellar calcifications, Acrocyanosis OMIM:225750
Atrial Septal Defect, Ostium Primum Type
Pulmonary arterial hypertension, Dyspnea, Abnormal respiratory system physiology, Airway obstruct... ORPHA:99106
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis ORPHA:896
Hyperekplexia 3
Respiratory arrest, Apnea OMIM:614618
Ethylene Glycol Poisoning
Alcoholism, Tachypnea, Episodic respiratory distress, Cyanosis, Abnormal pattern of respiration ORPHA:31826
Ethylmalonic Encephalopathy
Petechiae, Acrocyanosis ORPHA:51188
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Apnea OMIM:612949
Double Outlet Right Ventricle
Cyanosis, Tachypnea ORPHA:3426
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Atrial Septal Defect, Ostium Secundum Type
Pulmonary arterial hypertension, Dyspnea, Airway obstruction, Breathing dysregulation, Pneumonia,... ORPHA:99103
Wars2-Related Combined Oxidative Phosphorylation Defect
Lateral ventricle dilatation, Ventriculomegaly, Dysphagia, Cerebellar atrophy, Dilated fourth ven... ORPHA:572798
Mitochondrial Complex I Deficiency, Nuclear Type 1
Respiratory insufficiency, Death in infancy, Apnea, Respiratory failure, Cyanosis, Cerebellar atr... OMIM:252010
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Ventriculomegaly, Chiari malformation, Apnea ORPHA:2462
Developmental And Epileptic Encephalopathy 101
Apnea OMIM:619814
Spinocerebellar Ataxia 2
Dysphagia, Olivopontocerebellar atrophy, Dilated fourth ventricle, Cerebellar atrophy OMIM:183090
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Joubert Syndrome 5
Thickened superior cerebellar peduncle, Agenesis of cerebellar vermis, Neonatal breathing dysregu... OMIM:610188
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Acrocyanosis ORPHA:1867
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy, Partial agenesis of the corpus callosum OMIM:617478
Myotonia, Potassium-Aggravated
Stridor, Apneic episodes in infancy OMIM:608390
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Dyspnea, Pneumonia, Increased pulmonary vascular resistance, Cya... ORPHA:99104
Hyperglycinemia, Lactic Acidosis, And Seizures
Respiratory insufficiency, Apnea OMIM:614462
Biotinidase Deficiency
Respiratory distress, Myelopathy, Apnea, Hyperventilation ORPHA:79241
Mosaic Variegated Aneuploidy Syndrome
Holoprosencephaly, Ventriculomegaly, Apnea, Aplasia/Hypoplasia of the cerebellum, Dandy-Walker ma... ORPHA:1052
Myasthenia Gravis
Dysphagia, Dyspnea, Acrocyanosis ORPHA:589
Alternating Hemiplegia Of Childhood
Aspiration, Apnea, Respiratory distress, Dysphagia, Oral-pharyngeal dysphagia, Flushing, Impulsivity ORPHA:2131
Biotinidase Deficiency
Diffuse cerebellar atrophy, Tachypnea, Apnea OMIM:253260
Machado-Joseph Disease
Dysphagia, Dilated fourth ventricle, Cerebellar atrophy OMIM:109150
Spinocerebellar Ataxia 1
Dysphagia, Olivopontocerebellar atrophy, Dilated fourth ventricle, Spinocerebellar atrophy OMIM:164400
Bilateral Perisylvian Polymicrogyria
Aspiration, Cerebellar dysplasia, Pseudobulbar paralysis, Apnea, Dysphagia, Ectopic posterior pit... ORPHA:98889
Osteopathia Striata With Cranial Sclerosis
Tracheomalacia, Partial agenesis of the corpus callosum, Hydrocephalus, Apnea, Spina bifida occulta OMIM:300373
Hyperekplexia 1
Aspiration, Apnea OMIM:149400
Tarp Syndrome
Cyanosis, Cerebellar hypoplasia, Apnea ORPHA:2886
Machado-Joseph Disease Type 1
Dysphagia, Cerebellar atrophy, Dilated fourth ventricle ORPHA:276238
Machado-Joseph Disease Type 2
Dysphagia, Cerebellar atrophy, Dilated fourth ventricle ORPHA:276241
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Purpura, Erythema, Acrocyanosis ORPHA:343
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea ORPHA:1129
Stuve-Wiedemann Syndrome 1
Pulmonary arterial hypertension, Respiratory insufficiency, Death in infancy, Apnea, Dysphagia, P... OMIM:601559
Unilateral Polymicrogyria
Cyanosis, Epistaxis, Pseudobulbar paralysis, Apnea ORPHA:268943
Acquired Purpura Fulminans
Macular purpura, Acrocyanosis ORPHA:49566
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Hydrocephalus, Aqueductal stenosis, Respiratory distress, Cerebellar hypoplasia... OMIM:306955
Rett Syndrome
Intermittent hyperventilation, Apnea OMIM:312750
Congenital Left Ventricular Aneurysm
Apnea ORPHA:1055
Glass Syndrome
Hyperactivity, Restlessness, Apnea OMIM:612313
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Obstructive sleep apnea, Rhombencephalosynapsis, Cerebellar hypoplasia, Dilated fourth ventricle,... OMIM:619306
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal respiratory distress, Aspiration, Erythema, Apnea, Stridor OMIM:614653
Arima Syndrome
Dyspnea, Agenesis of cerebellar vermis, Occipital meningocele, Polydipsia, Tachypnea, Dilated fou... OMIM:243910
Absence Of The Pulmonary Artery
Pulmonary arterial hypertension, Dyspnea, Recurrent pneumonia, Bronchiectasis, Hypocapnia, Nonpro... ORPHA:980
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Bruising susceptibility, Hydrocephalus, Chronic rhinitis, Apnea ORPHA:667
Machado-Joseph Disease Type 3
Dysphagia, Cerebellar atrophy, Dilated fourth ventricle ORPHA:276244
Congenital Disorder Of Glycosylation, Type Ia
Death in childhood, Olivopontocerebellar hypoplasia, Death in infancy, Dilated fourth ventricle, ... OMIM:212065
Bohring-Opitz Syndrome
Ventriculomegaly, Apnea, Obstructive sleep apnea, Agenesis of corpus callosum, Dandy-Walker malfo... ORPHA:97297
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Polyphagia, Ventriculomegaly, Obstructive sleep apnea, Central apnea, Bulimia ORPHA:98754
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Aspiration pneumonia, Hypopnea, Restrictive ventilatory defect, Hypoventilation, Apnea, Dysphagia OMIM:619482
Semilobar Holoprosencephaly
Aspiration pneumonia, Hydrocephalus, Attention deficit hyperactivity disorder, Chronic lung disea... ORPHA:220386
Alobar Holoprosencephaly
Aspiration pneumonia, Hydrocephalus, Attention deficit hyperactivity disorder, Chronic lung disea... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Aspiration pneumonia, Hydrocephalus, Attention deficit hyperactivity disorder, Chronic lung disea... ORPHA:93926
Lobar Holoprosencephaly
Aspiration pneumonia, Hydrocephalus, Attention deficit hyperactivity disorder, Chronic lung disea... ORPHA:93924
Illum Syndrome
Apnea OMIM:208155
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary arterial hypertension, Dyspnea, Reduced FEV1/FVC ratio, Lip telangiectasia, Conjunctiva... OMIM:187300
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Polyphagia, Ventriculomegaly, Obstructive sleep apnea, Central apnea, Bulimia ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Polyphagia, Ventriculomegaly, Obstructive sleep apnea, Central apnea, Bulimia ORPHA:177904
Genitopatellar Syndrome
Agenesis of corpus callosum, Apnea ORPHA:85201
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Polyphagia, Ventriculomegaly, Obstructive sleep apnea, Central apnea, Bulimia ORPHA:177901
Orofaciodigital Syndrome Type 6
Episodic tachypnea, Cerebellar vermis hypoplasia, Apnea ORPHA:2754
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Apnea OMIM:210200
Mogs-Cdg
Respiratory distress, Hypoventilation, Apnea ORPHA:79330
Autosomal Recessive Spastic Paraplegia Type 77
Sudden episodic apnea, Neuromuscular dysphagia ORPHA:466722
Congenital Tracheal Stenosis
Dyspnea, Upper airway obstruction, Respiratory distress, Neonatal asphyxia, Cyanosis, Wheezing ORPHA:141127
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Tachypnea, Apnea ORPHA:20
Campomelic Dysplasia
Neonatal respiratory distress, Tracheomalacia, Spinal dysraphism, Hydrocephalus, Spina bifida, Ap... OMIM:114290
Prader-Willi-Like Syndrome
Polyphagia, Ventriculomegaly, Obstructive sleep apnea, Central apnea, Bulimia ORPHA:398073
15Q11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Dilated fourth ventricle ORPHA:261183
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polyphagia, Cardiorespiratory arrest, Hypoventilation, Central hypoventilation, Obstructive sleep... ORPHA:293987
Mitochondrial Dna-Associated Leigh Syndrome
Dyspnea, Hyperventilation, Apnea, Dysphagia, Episodic respiratory distress ORPHA:255210
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Hypoplasia of the pons, Intermittent hyperventilation, Dilated fourth ventricle, Cerebellar hypop... OMIM:300749
Poems Syndrome
Pulmonary arterial hypertension, Restrictive ventilatory defect, Respiratory insufficiency due to... ORPHA:2905
Zaki Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia OMIM:619648
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea ORPHA:79644
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Ogden Syndrome
Aspiration, Pulmonary arterial hypertension, Jaundice, Restrictive ventilatory defect, Minimal su... OMIM:300855
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Apnea, Hyperventilation OMIM:617799
Aromatic L-Amino Acid Decarboxylase Deficiency
Cardiorespiratory arrest, Apnea OMIM:608643
Xp21 Deletion Syndrome
Agenesis of corpus callosum, Apneic episodes in infancy ORPHA:261476
Necrotizing Enterocolitis
Apnea ORPHA:391673
Brachytelephalangic Chondrodysplasia Punctata
Neonatal respiratory distress, Respiratory failure requiring assisted ventilation, Central apnea,... ORPHA:79345
Fucosidosis
Vascular skin abnormality, Acrocyanosis ORPHA:349
Chronic Bilirubin Encephalopathy
Central apnea, Prolonged neonatal jaundice ORPHA:529808
Acute Bilirubin Encephalopathy
Central apnea, Prolonged neonatal jaundice ORPHA:529799
Schwartz-Jampel Syndrome
Pulmonary arterial hypertension, Respiratory insufficiency, Attention deficit hyperactivity disor... ORPHA:800
Telangiectasia, Hereditary Hemorrhagic, Type 4
Lip telangiectasia, Dyspnea, Tongue telangiectasia, Nasal mucosa telangiectasia, Palate telangiec... OMIM:610655
Hermansky-Pudlak Syndrome 10
Apnea OMIM:617050
Telangiectasia, Hereditary Hemorrhagic, Type 2
Pulmonary arterial hypertension, Dyspnea, Lip telangiectasia, Fingerpad telangiectases, Facial te... OMIM:600376
Aortic Arch Interruption
Respiratory distress, Cyanosis, Exertional dyspnea, Tachypnea ORPHA:2299
Slc39A8-Cdg
Sudden episodic apnea, Cerebellar atrophy, Ventriculomegaly ORPHA:468699
Goodpasture Syndrome
Increased DLCO, Restrictive ventilatory defect, Cough, Tachypnea, Cyanosis, Crackles, Exertional ... OMIM:233450
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased sensitivity to hypoxemia, Acrocyanosis OMIM:223900
Meckel Syndrome, Type 1
Hydrocephalus, Occipital encephalocele, Dandy-Walker malformation, Ventriculomegaly, Anencephaly,... OMIM:249000
Pitt-Hopkins Syndrome
Sleep apnea, Abnormal pattern of respiration, Acrocyanosis, Hyperventilation ORPHA:2896
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Aicardi-Goutières Syndrome
Prolonged neonatal jaundice, Ventriculomegaly, Cutis marmorata, Arrhinencephaly, Acrocyanosis ORPHA:51
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Pulmonary arterial hypertension, Exertional dyspnea ORPHA:99050
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea ORPHA:17
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Eisenmenger Syndrome
Pulmonary arterial hypertension, Hypoxemia, Respiratory distress, Increased pulmonary vascular re... ORPHA:97214
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Neonatal respiratory distress, Aspiration, Erythema, Facial erythema, Apnea, Dysphagia, Ventricul... OMIM:619503
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Sleep apnea, Central apnea, Hyperventilation ORPHA:522077
Hutchinson-Gilford Progeria Syndrome
Pulmonary arterial hypertension, Upper airway obstruction, Premature skin wrinkling, Cyanosis, Ge... ORPHA:740
Wolfram Syndrome
Respiratory insufficiency, Polydipsia, Central apnea ORPHA:3463
Orofaciodigital Syndrome Type 14
Partial agenesis of the corpus callosum, Dilated fourth ventricle, Sleep apnea, Dandy-Walker malf... ORPHA:434179
Dermatomyositis
Pulmonary arterial hypertension, Erythema, Respiratory insufficiency, Telangiectasia of the skin,... ORPHA:221
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Aspiration pneumonia, Central sleep apnea, Hypoventilation, Apnea, Dysphagia, Obstructive sleep a... ORPHA:438213
Familial Dysautonomia
Acrocyanosis ORPHA:1764
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Lateral ventricle dilatation OMIM:619869
Congenital Total Pulmonary Venous Return Anomaly
Pulmonary arterial hypertension, Respiratory distress, Paroxysmal dyspnea, Respiratory failure re... ORPHA:99125
Postinfectious Vasculitis
Palpable purpura, Pneumonia, Vasculitis in the skin, Cutis marmorata, Acrocyanosis ORPHA:48435
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis OMIM:259900
Stüve-Wiedemann Syndrome
Respiratory distress, Asthma, Apnea ORPHA:3206
Truncus Arteriosus
Cyanosis, Tachypnea ORPHA:3384
Coffin-Lowry Syndrome
Cutis marmorata, Acrocyanosis, Ventriculomegaly OMIM:303600
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Apnea ORPHA:285
Primary Hyperoxaluria
Cutis marmorata, Acrocyanosis ORPHA:416
Diethylstilbestrol Syndrome
Central apnea ORPHA:1916
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Dandy-Walker malformation, Ventriculomegaly, Respiratory distress, Aplasia/Hypoplasia of the cere... ORPHA:480880
Orofaciodigital Syndrome Type 2
Apnea, Tachypnea ORPHA:2751
Classical Ehlers-Danlos Syndrome
Poor wound healing, Bruising susceptibility, Ecchymosis, Prematurely aged appearance, Acrocyanosi... ORPHA:287
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cyanosis, Pulmonary arterial hypertension ORPHA:51608
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Pallister-Killian Syndrome
Ventriculomegaly, Apneic episodes in infancy, Stillbirth, Hyperventilation OMIM:601803
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
OMIM:618646

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 Gsx2

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 Gsx2.

No publications found that use IMPC mice or data for Gsx2.

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