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:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Abnormality of the basal ganglia, Decreased thalamic volume, Hypoplasia of the olfactory bulb OMIM:618646

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Dandy-Walker Syndrome
Posterior fossa cyst at the fourth ventricle, Partial absence of cerebellar vermis, Dilated fourt... OMIM:220200
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypoplasia of the corpus callosum, Cerebral atrophy, Death in infancy, Apnea OMIM:618235
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Respiratory insufficiency, Cerebral dysmyelination, Respiratory failure, Death in ... OMIM:611722
Epilepsy, Early-Onset, Vitamin B6-Dependent
Secondary microcephaly, Ventriculomegaly, Apnea, Respiratory insufficiency OMIM:617290
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea, Hydrocephalus, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum, D... OMIM:300864
Cholesterol Pneumonia
Cough, Death in infancy, Pneumonia, Tachypnea, Cyanosis OMIM:215030
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Microcephaly, Death in childhood OMIM:302000
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Pachygyria, Ventriculomegaly, Neuronal loss in the cerebral cortex, C... ORPHA:168486
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Cerebral atrophy, Respiratory insufficiency, Cerebellar atrophy, Respiratory failure, Micr... OMIM:610127
Pontocerebellar Hypoplasia, Type 6
Apnea, Cerebral atrophy, Cerebellar hypoplasia, Cerebellar atrophy, Death in childhood, Microceph... OMIM:611523
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Inspiratory stridor, Dysphagia, Arnold-Chiari malformation, Cyanosis... OMIM:207950
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Joubert Syndrome 23
Tachypnea, Dysplastic corpus callosum, Apnea, Cerebellar dysplasia OMIM:616490
3-Methylglutaconic Aciduria, Type Viii
Apnea, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Death in infancy, R... OMIM:617248
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dysphagia, Ventriculomegaly, Episodic tachypnea, Cerebellar vermis hypoplasia, Apneic episodes in... ORPHA:163961
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor ORPHA:137935
Arnold-Chiari Malformation Type Ii
Apnea, Agenesis of corpus callosum, Inspiratory stridor, Ventriculomegaly, Dysphagia, Pneumonia, ... ORPHA:1136
Pontocerebellar Hypoplasia Type 4
Primary microcephaly, Respiratory failure requiring assisted ventilation, Olivopontocerebellar hy... ORPHA:166063
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Dysphagia, Respiratory insufficiency, Cerebellar atrophy, Leukoencephalopathy, Progressive... OMIM:618226
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Laryngeal Abductor Paralysis
Dysphagia, Microcephaly, Cyanosis, Stridor OMIM:150260
Laryngotracheoesophageal Cleft
Choking episodes, Dyspnea, Cough, Neonatal respiratory distress, Impaired oropharyngeal swallow r... ORPHA:2004
Pontocerebellar Hypoplasia Type 2
Apnea, Cerebellar cyst, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar vermis hy... ORPHA:2524
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Microcephaly, Apneic episodes in infancy, Cerebral atrophy, Cerebral white matter hypoplasia ORPHA:500545
Ravine Syndrome
Apnea, Abnormality of the basal ganglia ORPHA:99852
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, Cerebellar hypoplasia OMIM:615228
Bronchopulmonary Dysplasia
Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system physiology, Dyspnea, Cou... ORPHA:70589
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia cysts, Ventriculomegaly, Cerebral atrophy, Apneic episodes precipitated by illness,... OMIM:312170
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Leukodystrophy, Hypomyelinating, 4
Secondary microcephaly, Apnea OMIM:612233
Myasthenic Syndrome, Congenital, 6, Presynaptic
Sudden episodic apnea, Respiratory distress, Dysphagia, Respiratory insufficiency due to muscle w... OMIM:254210
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Hypoplasia of the corpus callosum, Cerebral atrophy, Central apnea, Cerebellar atrophy, Microcephaly ORPHA:320385
Joubert Syndrome 30
Apnea, Ventriculomegaly, Cerebellar atrophy, Tachypnea, Dandy-Walker malformation, Superior cereb... OMIM:617622
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Progressive microcephaly, Central apnea ORPHA:71277
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cough, Respiratory failure, Tachypnea, Cyanosis OMIM:263000
Glutamine Deficiency, Congenital
Apnea, Hypoplasia of the corpus callosum, Erythema, Neonatal respiratory distress, Neonatal death... OMIM:610015
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Respiratory insufficiency OMIM:618222
Coach Syndrome 2
Apneic episodes in infancy, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hydrocephalus OMIM:619111
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Cryptogenic Organizing Pneumonia
Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distress, Cough, Nonproductive cou... ORPHA:1302
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Dysphagia, Central hypoventilation, Respiratory failure, Leukoencephalopathy OMIM:618233
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Dyspnea, Death in infancy, Neonatal respiratory distress, Neonatal death, Respiratory fail... OMIM:265120
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Sudden episodic apnea, Respiratory distress, Dysphagia, Respiratory insufficiency due to muscle w... OMIM:605809
Hereditary Methemoglobinemia
Temporal cortical atrophy, Frontal cortical atrophy, Exertional dyspnea, Cerebellar atrophy, Smal... ORPHA:621
Hyperglycinemia, Lactic Acidosis, And Seizures
Microcephaly, Cerebral atrophy, Apnea, Respiratory insufficiency OMIM:614462
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic lesion, Dysphag... ORPHA:79264
Asbestos Intoxication
Restrictive ventilatory defect, Wheezing, Dyspnea, Late inspiratory crackles, Exertional dyspnea,... ORPHA:2302
Dandy-Walker Malformation With Postaxial Polydactyly
Posterior fossa cyst at the fourth ventricle, Partial absence of cerebellar vermis, Dilated fourt... OMIM:220220
Pontocerebellar Hypoplasia, Type 7
Apnea, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar hypoplasia, Progressive mi... OMIM:614969
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Death in infancy, Neonatal respi... OMIM:610921
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Apnea, Corpus callosum atrophy, Dysphagia, Ventriculomegaly, Leukoencephalopathy, Secondary micro... OMIM:608809
D-2-Hydroxyglutaric Aciduria 1
Apnea, Multifocal cerebral white matter abnormalities, Inspiratory stridor, Dilation of lateral v... OMIM:600721
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Posterior fossa cyst at the fourth ventricle, Partial absence of cerebellar vermis, Dilated fourt... OMIM:220219
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dysphagia, Dilation of lateral ventricles, C... ORPHA:488627
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebella... OMIM:617751
Pseudo-Torch Syndrome 3
Apnea, Abnormal cerebral white matter morphology, Death in infancy, Cerebellar hypoplasia, Respir... OMIM:618886
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Tachypnea, Neonatal respiratory dis... ORPHA:2257
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebral white matter hypoplasia... ORPHA:284417
Mitochondrial Complex I Deficiency, Nuclear Type 14
Secondary microcephaly, Apnea OMIM:618236
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Microcephaly, Cyanosis, Exertional dyspnea OMIM:250800
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea OMIM:616277
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Microcephaly, Progressive microcephaly, Death in infancy, Apnea OMIM:614498
Kcnq2-Related Epileptic Encephalopathy
Apnea, Facial erythema, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphol... ORPHA:439218
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Cereb... OMIM:614407
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Apnea, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:137754
Myoclonus, Intractable, Neonatal
Dysphagia, Microcephaly, Progressive leukoencephalopathy, Apnea OMIM:617235
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly, Central apnea OMIM:615031
Poretti-Boltshauser Syndrome
Abnormal periventricular white matter morphology, Cerebellar cyst, Cerebellar vermis hypoplasia, ... OMIM:615960
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Central hypoventilation, Respiratory insufficiency, Polymicrogyria, Progressive microcephaly OMIM:300673
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Agenesis of corpus callosum, Type II lissencephaly, Cerebella... ORPHA:370959
Gaucher Disease, Type Ii
Dysphagia, Apnea, Recurrent aspiration pneumonia, Cerebral atrophy OMIM:230900
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Respiratory insufficiency OMIM:617239
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Choanal Atresia
Choking episodes, Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Upper air... ORPHA:137914
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Pulmonary arterial ... ORPHA:2414
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Nasal flaring, Respiratory failure, Tachypnea, Hypoxemia, Cyanosis ORPHA:70587
Pulmonary Alveolar Proteinosis, Acquired
Restrictive ventilatory defect, Dyspnea, Cough, Pneumonia, Decreased DLCO, Hypoxemia, Cyanosis OMIM:610910
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Dyspnea, Respiratory distress, Bronchiectasis, Interstitial pneumonitis... OMIM:610913
Joubert Syndrome
Apnea, Aplasia/Hypoplasia of the corpus callosum, Episodic tachypnea, Cerebellar vermis hypoplasi... ORPHA:475
Joubert Syndrome 9
Apnea, Ventriculomegaly, Episodic tachypnea OMIM:612285
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Sleep apnea, Hypoplasia of the corpus callosum, Megalencephaly, Central apnea, Pulmonary arterial... OMIM:616482
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity, Respiratory failure, Paroxysmal dyspnea, Cyanosis, Strido... ORPHA:444013
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
Breath-Holding Spells
Cyanosis OMIM:607578
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Myasthenic Syndrome, Congenital, 24, Presynaptic
Dysphagia, Apnea, Respiratory insufficiency OMIM:618198
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Microcephaly, Ventriculomegaly, Apnea, Hyperventilation OMIM:617903
Joubert Syndrome With Renal Defect
Apnea, Hydrocephalus, Cerebellar vermis hypoplasia, Polymicrogyria, Abnormal pattern of respirati... ORPHA:220497
Joubert Syndrome 2
Thickened superior cerebellar peduncle, Hydrocephalus, Episodic tachypnea, Enlarged fossa interpe... OMIM:608091
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Apnea, Tachypnea, Absent septum pellucidum, Ventriculomegaly, Cerebellar vermis h... ORPHA:397715
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Diffuse white matter abnormalities, Basal ganglia gliosis, Ap... ORPHA:70474
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis, Cerebral atrophy OMIM:261680
Severe X-Linked Intellectual Disability, Gustavson Type
Cerebellar hypoplasia, Dilation of lateral ventricles, Dilated fourth ventricle, Apneic episodes ... ORPHA:3078
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Orthopnea, Respiratory failure, Cyanosis, Red... ORPHA:98913
Tenorio Syndrome
Cavum septum pellucidum, Apnea, Ventriculomegaly, Pneumonia, Cerebral cortical atrophy, Hydroceph... OMIM:616260
Nemaline Myopathy 2
Dysphagia, Apnea, Respiratory insufficiency due to muscle weakness OMIM:256030
Leigh Syndrome With Leukodystrophy
Apnea, Focal T2 hyperintense basal ganglia lesion ORPHA:255241
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Apnea, Progressive ventriculomegaly, Hypoplasia of the corpus callosum, Cerebral atrophy, Death i... OMIM:602613
Joubert Syndrome With Oculorenal Defect
Apnea, Aplasia/Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Tachypnea, Hydroc... ORPHA:2318
Joubert Syndrome 3
Episodic tachypnea, Cerebellar vermis hypoplasia, Central apnea, Enlarged fossa interpeduncularis... OMIM:608629
Acute Interstitial Pneumonia
Dyspnea, Bronchiectasis, Pleural effusion, Nonproductive cough, Crackles, Decreased DLCO, Atelect... ORPHA:79126
Hsd10 Disease, Infantile Type
Dysphagia, Cerebral atrophy, Frontotemporal cerebral atrophy, Abnormality of the basal ganglia, M... ORPHA:391428
Pancreatic And Cerebellar Agenesis
Apnea, Reduced subcutaneous adipose tissue, Cerebellar hypoplasia, Death in infancy, Microcephaly... OMIM:609069
Joubert Syndrome 7
Episodic tachypnea, Central apnea, Abnormal corpus callosum morphology, Tachypnea, Neonatal breat... OMIM:611560
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Apnea, Hypoplasia of the corpus callosum, Cerebellar atrophy, Abnormal cerebellum morphology, Mic... OMIM:618056
Joubert Syndrome With Ocular Defect
Apnea, Hydrocephalus, Cerebellar vermis hypoplasia, Polymicrogyria, Abnormal pattern of respirati... ORPHA:220493
Congenital Myasthenic Syndrome
Choking episodes, Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Dysp... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Choking episodes, Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Dysp... ORPHA:98914
Tetrasomy 5P
Respiratory distress, Lipoma of corpus callosum, Cerebellar hypoplasia, Pulmonary arterial hypert... ORPHA:3309
Auriculocondylar Syndrome 2
Apnea, Snoring OMIM:614669
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Hypoplasia of the corpus callosum, Ventriculomegaly, Dysphagia, Respiratory failure, Micro... OMIM:617301
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea OMIM:618225
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae, Abnormal basal ganglia MRI signal intensity ORPHA:51188
Encephalopathy, Ethylmalonic
Acrocyanosis, Focal T2 hyperintense basal ganglia lesion, Petechiae OMIM:602473
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Cardiorespiratory arrest, Bronchospasm, Abnormal pattern of respiration, Stridor OMIM:608800
Acquired Methemoglobinemia
Hypoxemia, Cyanosis, Dyspnea, Respiratory distress ORPHA:464453
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Apnea, Abnormal periventricular white matter morphology, Abnormal cerebral white matter morpholog... ORPHA:395
Peroxisome Biogenesis Disorder 11A (Zellweger)
Apnea, Polymicrogyria, Lissencephaly OMIM:614883
Infantile Neuroaxonal Dystrophy
Choking episodes, Abnormal cerebral white matter morphology, Iron accumulation in globus pallidus... ORPHA:35069
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Dilated fourth ventricle, Cerebellar atrophy, Diffuse cerebral atrophy, Cerebellar vermis atrophy ORPHA:1170
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Dyspnea, Cough, Crackles, Decreased DLCO, Hypoxemia, Cyanosis ORPHA:747
Buerger Disease
Acrocyanosis ORPHA:36258
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Basal ganglia cysts, Respiratory distress, Ventriculomegaly, Intracerebral periventricular... OMIM:608836
Waardenburg Syndrome Type 3
Acrocyanosis, Microcephaly, Tracheomalacia, Atelectasis ORPHA:896
Congenital Disorder Of Glycosylation, Type Ij
Microcephaly, Jaundice, Apnea, Respiratory insufficiency OMIM:608093
Aicardi-Goutieres Syndrome 1
Acrocyanosis, Purpura, Cerebral atrophy, Microcephaly, Prolonged neonatal jaundice, Basal ganglia... OMIM:225750
Gaucher Disease, Perinatal Lethal
Apnea, Respiratory distress, Purpura, Dysphagia, Ventriculomegaly, Desquamation of skin soon afte... OMIM:608013
2Q24 Microdeletion Syndrome
Central apnea ORPHA:1617
Plaa-Associated Neurodevelopmental Disorder
Apnea, Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly, Respir... ORPHA:521426
Spinocerebellar Ataxia, Autosomal Recessive 13
Dilated fourth ventricle, Cerebellar atrophy, Inferior vermis hypoplasia, Retrocerebellar cyst OMIM:614831
48,Xxyy Syndrome
Apnea, Ventriculomegaly, Asthma ORPHA:10
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Apnea, Hypoplasia of the corpus callosum, Ventriculomegaly, Dysphagia, Respiratory insufficiency,... OMIM:617527
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Microcephaly, Apneic episodes in infancy OMIM:610006
Joubert Syndrome 33
Apnea OMIM:617767
Autosomal Recessive Cutis Laxa Type 2A
Cerebellar malformation, Pachygyria, Thick cerebral cortex, Cerebellar vermis hypoplasia, Progero... ORPHA:357058
Joubert Syndrome 1
Episodic tachypnea, Cerebellar vermis hypoplasia, Central apnea, Enlarged fossa interpeduncularis... OMIM:213300
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Dilated fourth ventricle, Cerebellar vermis atrophy OMIM:619054
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea OMIM:619048
Tricuspid Atresia
Cyanosis ORPHA:1209
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Dilated fourth ventricle, Inferior vermis hypoplasia, Elon... ORPHA:370022
Atypical Rett Syndrome
Secondary microcephaly, Episodic tachypnea, Sudden episodic apnea, Abnormal pattern of respiration ORPHA:3095
Developmental And Epileptic Encephalopathy 90
Apneic episodes in infancy, Cerebral atrophy OMIM:301058
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Pulmonary Capillary Hemangiomatosis
Dyspnea, Elevated pulmonary artery pressure, Exertional dyspnea, Pleural effusion, Hemothorax, De... ORPHA:199241
Myasthenic Syndrome, Congenital, 20, Presynaptic
Dysphagia, Apnea, Stridor, Hypoventilation OMIM:617143
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Wieacker-Wolff Syndrome
Microcephaly, Cerebral atrophy, Apnea, Neonatal respiratory distress OMIM:314580
Carnitine-Acylcarnitine Translocase Deficiency
Microcephaly, Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Myotonia Fluctuans
Apnea, Stridor, Choking episodes ORPHA:99734
Wars2-Related Combined Oxidative Phosphorylation Defect
Abnormal periventricular white matter morphology, Dysphagia, Ventriculomegaly, Cerebral atrophy, ... ORPHA:572798
Pulmonary Arteriovenous Malformation
Dyspnea, Cough, Hemothorax, Epistaxis, Pleural empyema, Pulmonary arterial hypertension, Hypoxemi... ORPHA:2038
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis OMIM:252320
Unilateral Polymicrogyria
Pseudobulbar paralysis, Apnea, Epistaxis, Cortical dysplasia, Microcephaly, Cyanosis, Perisylvian... ORPHA:268943
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Microcephaly, Pneumonia ORPHA:1867
Propionic Acidemia
Tachypnea, Cerebral atrophy, Apnea OMIM:606054
Campomelic Dysplasia
Apnea, Tracheobronchomalacia, Hydrocephalus, Respiratory distress OMIM:114290
Histiocytoid Cardiomyopathy
Cerebellar malformation, Hydrocephalus, Cough, Tachypnea, Cyanosis, Agenesis of corpus callosum ORPHA:137675
Biotinidase Deficiency
Tachypnea, Diffuse cerebral atrophy, Apnea, Diffuse cerebellar atrophy OMIM:253260
Rett Syndrome
Cerebral cortical atrophy, Secondary microcephaly, Intermittent hyperventilation, Apnea OMIM:312750
Hypophosphatasia, Infantile
Apnea, Death in infancy, Stillbirth OMIM:241500
Bilateral Perisylvian Polymicrogyria
Pseudobulbar paralysis, Apnea, Dysphagia, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Ect... ORPHA:98889
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Rhombencephalosynapsis, Hypoplasia of the corpus callosum, Fusion of the left and right thalami, ... OMIM:619306
Dravet Syndrome
Cyanotic episode, Dysgenesis of the hippocampus ORPHA:33069
Microtia-Anotia
Holoprosencephaly OMIM:600674
Machado-Joseph Disease Type 1
Dysphagia, Dilated fourth ventricle, Degeneration of the striatum, Cerebellar atrophy, Substantia... ORPHA:276238
Machado-Joseph Disease Type 2
Dysphagia, Dilated fourth ventricle, Degeneration of the striatum, Cerebellar atrophy, Substantia... ORPHA:276241
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Respiratory distress, Ventriculomegaly, Episodic tachypnea, Apneic episodes in infancy, ... ORPHA:348
Orofaciodigital Syndrome Xvi
Apnea, Ventriculomegaly OMIM:617563
Eosinophilic Granulomatosis With Polyangiitis
Acrocyanosis, Purpura, Dysphagia, Cough, Respiratory insufficiency, Asthma, Cutis marmorata, Sinu... ORPHA:183
Sepsis In Premature Infants
Abnormal mucociliary clearance, Dyspnea, Purpura, Decreased pulmonary function, Jaundice, Petechi... ORPHA:90051
Joubert Syndrome 21
Dyspnea, Hypoplasia of the corpus callosum, Apnea, Elongated superior cerebellar peduncle OMIM:615636
Joubert Syndrome With Hepatic Defect
Aplasia/Hypoplasia of the cerebellum, Apnea, Aplasia/Hypoplasia of the corpus callosum, Cerebella... ORPHA:1454
Mosaic Variegated Aneuploidy Syndrome
Aplasia/Hypoplasia of the cerebellum, Apnea, Aplasia/Hypoplasia of the corpus callosum, Holoprose... ORPHA:1052
Central Hypoventilation Syndrome, Congenital, 1
Apnea, Hypoventilation, Hypercapnia, Central hypoventilation, Hypoxemia OMIM:209880
Shprintzen-Goldberg Syndrome
Apnea, Ventriculomegaly, Arnold-Chiari malformation, Microcephaly, Communicating hydrocephalus ORPHA:2462
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Occipital cortical atrophy, Polyphagia, Ventriculomegaly, Central apnea, Anterior pituitary hypop... ORPHA:98754
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Occipital cortical atrophy, Polyphagia, Ventriculomegaly, Central apnea, Anterior pituitary hypop... ORPHA:98793
Marshall-Smith Syndrome
Apnea, Cerebral atrophy, Macrogyria, Death in childhood, Pulmonary arterial hypertension, Recurre... OMIM:602535
Complete Atrioventricular Septal Defect
Wheezing, Elevated pulmonary artery pressure, Crackles, Pulmonary venous hypertension, Intercosta... ORPHA:1329
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Occipital cortical atrophy, Polyphagia, Ventriculomegaly, Central apnea, Anterior pituitary hypop... ORPHA:177904
Peroxisome Biogenesis Disorder 2A (Zellweger)
Apnea, Jaundice, Death in childhood OMIM:214110
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Microcephaly, Cyanosis ORPHA:3304
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Occipital cortical atrophy, Polyphagia, Ventriculomegaly, Central apnea, Anterior pituitary hypop... ORPHA:177901
Auriculocondylar Syndrome 1
Apnea, Snoring OMIM:602483
Ataxia-Telangiectasia-Like Disorder
Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis hypoplasia ORPHA:251347
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea, Hypoxemia, Cy... ORPHA:555874
Myotonia, Potassium-Aggravated
Apneic episodes in infancy, Stridor OMIM:608390
Machado-Joseph Disease Type 3
Dysphagia, Dilated fourth ventricle, Degeneration of the striatum, Cerebellar atrophy, Substantia... ORPHA:276244
Mucopolysaccharidosis Type 1
Apnea, Cough, Hydrocephalus, Sinusitis ORPHA:579
Fatal Familial Insomnia
Dysphagia, Apnea OMIM:600072
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea OMIM:616896
Ethylene Glycol Poisoning
Episodic respiratory distress, Abnormal pattern of respiration, Tachypnea, Cyanosis, Cerebral edema ORPHA:31826
Hermansky-Pudlak Syndrome 10
Microcephaly, Cerebral atrophy, Apnea OMIM:617050
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Gonadotropin deficiency, Hypoventilation, Cardiorespiratory arrest, Polyphagia, Polydipsia, Centr... ORPHA:293987
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Hypoventilation, Respiratory distress, Aspiration pneumonia, Recurrent pneumonia ORPHA:314655
Tarp Syndrome
Abnormal corpus callosum morphology, Apnea, Cyanosis, Cerebellar hypoplasia ORPHA:2886
Hyperekplexia 3
Apnea OMIM:614618
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Central apnea, Abnormal thalamic MRI signal intensity ORPHA:529808
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Central apnea, Abnormal thalamic MRI signal intensity ORPHA:529799
Prader-Willi-Like Syndrome
Occipital cortical atrophy, Polyphagia, Ventriculomegaly, Central apnea, Anterior pituitary hypop... ORPHA:398073
Fructose-1,6-Bisphosphatase Deficiency
Apnea, Dyspnea, Hyperventilation OMIM:229700
Congenital Fibrinogen Deficiency
Cyanosis, Subcutaneous hemorrhage, Bruising susceptibility ORPHA:335
Myasthenia Gravis
Acrocyanosis, Dysphagia, Dyspnea ORPHA:589
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Focal T2 hyperintense basal ganglia lesion, Episodic respiratory distress, Dyspnea, Dyspha... ORPHA:255210
Poems Syndrome
Acrocyanosis, Restrictive ventilatory defect, Pleural effusion, Respiratory insufficiency due to ... ORPHA:2905
Double Outlet Right Ventricle
Tachypnea, Cyanosis ORPHA:3426
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Cerebellar hypoplasia, Dilated fourth ventricle, Abnormal cortical gyration, Macrogyria, Microcep... OMIM:300749
Spinocerebellar Ataxia 2
Dysphagia, Dilated fourth ventricle, Olivopontocerebellar atrophy OMIM:183090
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Tachypnea, Jaundice, Leukoencephalopathy, Microcephaly ORPHA:20
Atrial Septal Defect, Ostium Secundum Type
Dyspnea, Exertional dyspnea, Increased pulmonary vascular resistance, Orthopnea, Pneumonia, Breat... ORPHA:99103
Bohring-Opitz Syndrome
Apnea, Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, Obstructive sleep apnea... ORPHA:97297
Osteopathia Striata With Cranial Sclerosis
Apnea, Tracheomalacia, Spina bifida occulta, Hydrocephalus, Partial agenesis of the corpus callosum OMIM:300373
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Esophageal Atresia
Restrictive ventilatory defect, Episodic respiratory distress, Chronic pulmonary obstruction, Res... ORPHA:1199
Aicardi-Goutières Syndrome
Acrocyanosis, Porencephalic cyst, Hypoplasia of the corpus callosum, Arrhinencephaly, Ventriculom... ORPHA:51
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Purpura, Urticaria, Erythema ORPHA:343
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Exertional dyspnea, Decreased pulmonary function, Pulmonary arterial hypertension, Tachy... ORPHA:99106
Semilobar Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Dysphagia, Abnormal hypothalamus physiology, Cen... ORPHA:220386
Alobar Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Dysphagia, Abnormal hypothalamus physiology, Cen... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Dysphagia, Abnormal hypothalamus physiology, Cen... ORPHA:93926
Lobar Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Dysphagia, Abnormal hypothalamus physiology, Cen... ORPHA:93924
Orofaciodigital Syndrome Type 6
Hypothalamic hamartoma, Apnea, Aplasia/Hypoplasia of the corpus callosum, Episodic tachypnea, Cer... ORPHA:2754
15Q11.2 Microdeletion Syndrome
Dilated fourth ventricle, Microcephaly, Thick cerebral cortex ORPHA:261183
Stuve-Wiedemann Syndrome
Pulmonary arterial hypertension, Apnea, Dysphagia, Respiratory insufficiency OMIM:601559
Hyperekplexia 1
Apnea, Aspiration OMIM:149400
Genitopatellar Syndrome
Microcephaly, Apnea, Agenesis of corpus callosum ORPHA:85201
Machado-Joseph Disease
Dysphagia, Dilated fourth ventricle, Cerebellar atrophy OMIM:109150
Spinocerebellar Ataxia 1
Dysphagia, Dilated fourth ventricle, Olivopontocerebellar atrophy, Spinocerebellar atrophy OMIM:164400
Arima Syndrome
Dyspnea, Occipital meningocele, Dilated fourth ventricle, Aplasia/Hypoplasia of the cerebellar ve... OMIM:243910
Alternating Hemiplegia Of Childhood
Apnea, Respiratory distress, Dysphagia, Flushing, Oral-pharyngeal dysphagia, Aspiration ORPHA:2131
Pitt-Hopkins Syndrome
Acrocyanosis, Sleep apnea, Aplasia/Hypoplasia of the corpus callosum, Small cerebral cortex, Abno... ORPHA:2896
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea ORPHA:1129
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Congenital Left Ventricular Aneurysm
Apnea ORPHA:1055
Slc39A8-Cdg
Cerebral cortical atrophy, Ventriculomegaly, Sudden episodic apnea, Cerebellar atrophy ORPHA:468699
Illum Syndrome
Apnea OMIM:208155
Atrial Septal Defect, Coronary Sinus Type
Dyspnea, Exertional dyspnea, Increased pulmonary vascular resistance, Pneumonia, Pulmonary arteri... ORPHA:99104
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Apnea OMIM:210200
Structural Heart Defects And Renal Anomalies Syndrome
Microcephaly, Cyanosis, Death in infancy, Partial agenesis of the corpus callosum OMIM:617478
Joubert Syndrome 5
Thickened superior cerebellar peduncle, Episodic tachypnea, Central apnea, Aplasia/Hypoplasia of ... OMIM:610188
Autosomal Recessive Malignant Osteopetrosis
Apnea, Chronic rhinitis, Pulmonary arterial hypertension, Bruising susceptibility, Hydrocephalus ORPHA:667
Xp21 Deletion Syndrome
Apneic episodes in infancy, Agenesis of corpus callosum ORPHA:261476
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Apnea, Respiratory insufficiency OMIM:614653
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Apnea, Respiratory distress, Cerebral atrophy, Leukoencephalopathy, Microcephaly, Abnormal basal ... ORPHA:17
Autosomal Recessive Spastic Paraplegia Type 77
Neuromuscular dysphagia, Sudden episodic apnea ORPHA:466722
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Congenital Tracheal Stenosis
Wheezing, Dyspnea, Respiratory distress, Neonatal asphyxia, Upper airway obstruction, Cyanosis ORPHA:141127
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Necrotizing Enterocolitis
Apnea ORPHA:391673
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Abnormality of the basal ganglia, Decreased thalamic volume, Hypoplasia of the olfactory bulb OMIM:618646
Atrioventricular Septal Defect 3
Pulmonary arterial hypertension, Cyanosis OMIM:600309
Schwartz-Jampel Syndrome
Apnea, Death in infancy, Respiratory insufficiency, Pulmonary arterial hypertension, Microcephaly ORPHA:800
Wolfram Syndrome
Cerebral cortical atrophy, Polydipsia, Central apnea, Respiratory insufficiency ORPHA:3463
Biotinidase Deficiency
Apnea, Respiratory distress, Hyperventilation ORPHA:79241
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Aromatic L-Amino Acid Decarboxylase Deficiency
Apnea, Cardiorespiratory arrest OMIM:608643
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Apnea, Hypoventilation, Central sleep apnea, Absent septum pellucidum, Abnormality of the anterio... ORPHA:438213
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Restrictive ventilatory defect, Dyspnea, Nail bed telangiectasia, Li... OMIM:187300
Brachytelephalangic Chondrodysplasia Punctata
Respiratory failure requiring assisted ventilation, Central apnea, Neonatal respiratory distress,... ORPHA:79345
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Decreased sensitivity to hypoxemia OMIM:223900
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis OMIM:261740
Hemangiomatosis, Cutaneous, With Associated Features
Acrocyanosis OMIM:234800
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Dyspnea, Lip telangiectasia, Spontaneous, recurrent epistaxis, Nasal... OMIM:610655
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Sleep apnea, Hemiballismus, Central apnea, Hyperventilation ORPHA:522077
Orofaciodigital Syndrome Type 14
Sleep apnea, Hypoplasia of the corpus callosum, Dilated fourth ventricle, Dilated third ventricle... ORPHA:434179
Goodpasture Syndrome
Restrictive ventilatory defect, Exertional dyspnea, Cough, Crackles, Increased DLCO, Tachypnea, C... OMIM:233450
Heterotaxy, Visceral, 1, X-Linked
Cyanosis, Respiratory distress OMIM:306955
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Dyspnea, Nail bed telangiectasia, Lip telangiectasia, Spontaneous, r... OMIM:600376
Dermatomyositis
Acrocyanosis, Respiratory insufficiency, Telangiectasia of the skin, Erythema, Pulmonary arterial... ORPHA:221
Familial Dysautonomia
Acrocyanosis ORPHA:1764
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea ORPHA:99050
Coffin-Lowry Syndrome
Acrocyanosis, Microcephaly, Ventriculomegaly, Cutis marmorata OMIM:303600
Hutchinson-Gilford Progeria Syndrome
Generalized abnormality of skin, Premature skin wrinkling, Exertional dyspnea, Prominent superfic... ORPHA:740
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Eisenmenger Syndrome
Wheezing, Respiratory distress, Exertional dyspnea, Increased pulmonary vascular resistance, Pulm... ORPHA:97214
Generalized Arterial Calcification Of Infancy
Respiratory distress, Encephalomalacia, Cerebral calcification, Pulmonary arterial hypertension, ... ORPHA:51608
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata ORPHA:416
Stüve-Wiedemann Syndrome
Apnea, Asthma, Respiratory distress ORPHA:3206
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Exertional dyspnea, Respiratory failure requiring assisted ventilation, Apn... ORPHA:99125
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Aplasia/Hypoplasia of the cerebellum, Respiratory distress, Hypoplasia of the corpus callosum, Ve... ORPHA:480880
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Apnea ORPHA:285
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
Truncus Arteriosus
Tachypnea, Cyanosis ORPHA:3384
Diethylstilbestrol Syndrome
Central apnea ORPHA:1916
Classical Ehlers-Danlos Syndrome
Acrocyanosis, Prematurely aged appearance, Poor wound healing, Fragile skin, Bruising susceptibil... ORPHA:287
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694

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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