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Gene: Celsr3 MGI:1858236

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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:
cadherin, EGF LAG seven-pass G-type receptor 3
Synonyms:
Fmi1,  Adgrc3,  flamingo

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 Celsr3 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Celsr3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:615411
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... ORPHA:2302
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Cough, A... ORPHA:70589
Lissencephaly 1
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:607432
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Tachypnea,... OMIM:610978
Lissencephaly, X-Linked, 1
Death in infancy, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:300067
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Abnormality of the anterior commissure, Hydrocephalus, Agen... OMIM:617542
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle... ORPHA:79126
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Cerebral dysmyelination, Respiratory insufficiency, Feeding diff... OMIM:611722
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Abnormal pulmonary thoracic imaging finding, Crackles,... ORPHA:2902
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:1083
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Feeding difficulties, Respiratory failure, Hypoplasia of the corpus ca... OMIM:616081
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Somatic sensory dysfunction, Nasogastric tube... ORPHA:90117
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Abnormal cortical gyration, Microcephaly, Aplasia/Hypoplasia of the pyramidal tract, Neonatal dea... OMIM:619602
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Lissencephaly 3
Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr... OMIM:611603
Familial Congenital Mirror Movements
Agenesis of corpus callosum, Abnormal corticospinal tract morphology ORPHA:238722
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Pachygyria, Agyria ORPHA:1084
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... OMIM:619773
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... ORPHA:70587
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration ORPHA:101029
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... ORPHA:70588
Gerstmann-Straussler-Scheinker Syndrome
Dysesthesia, Abnormal pyramidal tract morphology, Gait ataxia, Paresthesia, Acroparesthesia ORPHA:356
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... OMIM:265120
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Cerebral atrophy, Respiratory failure, Focal T2 hyperintense thala... OMIM:619057
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Chiari Malformation Type Ii
Cyanosis, Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Feeding difficulties, Cervical m... OMIM:207950
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy... OMIM:600638
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Degeneration of the lateral corticospinal tracts, Impaired distal vibration sensation, Im... OMIM:604360
Perching Syndrome
Respiratory distress, Cyanosis, Feeding difficulties, High palate, Dysphagia OMIM:617055
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hydrocephalus, Polymicrogyria OMIM:604213
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ataxia, Gastrointestinal dysmotility, Cerebral atrophy, Respiratory failure, Dysphagia OMIM:618637
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly ORPHA:352682
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Feeding difficulties in infancy, Partial agenesis of the corpus callosum, Simplif... ORPHA:300570
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Microcephaly, Respiratory insufficiency due to muscle wea... OMIM:611890
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration OMIM:618709
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Intestinal malrotation, Pulmon... ORPHA:244
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... OMIM:263000
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Ground-glass opacification, Atelectasis, Abdominal distention, Chronic diarrhea, Dyspne... OMIM:620233
High Altitude Pulmonary Edema
Nausea and vomiting, Orthopnea, Cyanosis, Anorexia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Coug... ORPHA:330012
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormality of the anterior commissure, Pachygyria, Thin corpus callosum, Dysphagia ORPHA:572013
Phosphoserine Aminotransferase Deficiency
Death in infancy, Apnea, Feeding difficulties, Secondary microcephaly, Cyanotic episode OMIM:610992
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Anorexia, Crackles, Ground-glass opacific... ORPHA:1302
Lissencephaly 9 With Complex Brainstem Malformation
Microcephaly, Hypoplastic anterior commissure, Feeding difficulties, Lissencephaly, Hypoplasia of... OMIM:618325
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis, Microcephaly OMIM:302000
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency, Paresthesia, Cleft palate ORPHA:2901
Pyruvate Dehydrogenase E1-Alpha Deficiency
Microcephaly, Cerebral atrophy, Apneic episodes precipitated by illness, fatigue, stress, Basal g... OMIM:312170
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Microcephaly, Neuronal loss in the cerebral cortex, Respira... ORPHA:168486
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Microcephaly, Feeding difficulties, Respiratory failure, Dysphagia OMIM:225753
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Nemaline Myopathy 8
Death in infancy, Respiratory failure, Gastrostomy tube feeding in infancy, Dysphagia OMIM:615348
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,... OMIM:604317
C1Q Deficiency 2
Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory... OMIM:620321
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence OMIM:300717
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Cleft palate, Respiratory insufficiency, Restrictive ventilatory defect, Re... OMIM:614399
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Simplified gyral pattern, Respiratory insufficiency OMIM:618328
Congenital Myopathy 14
Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Feeding difficulties, ... OMIM:618414
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Apnea, Feeding difficulties, Respiratory failure, Poor suck, Thin corpus callosum OMIM:616277
Spastic Paraplegia 8, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Dysphagia, Degeneration of the lateral corticosp... OMIM:603563
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Pulmonary fibrosis, Dysphagia, Bronchiolitis, Exertional dyspnea ORPHA:254361
Neuropathy, Ataxia, And Retinitis Pigmentosa
Corticospinal tract atrophy, Ataxia OMIM:551500
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Respiratory tract infection, Abdominal distention, Secre... OMIM:619445
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... ORPHA:723
Adult Krabbe Disease
Somatic sensory dysfunction, Ataxia, Abnormal pyramidal tract morphology, Impaired tactile sensat... ORPHA:206448
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Apnea, Intercostal retractions, Wheezing, Feeding difficulties, S... ORPHA:137935
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis, Ataxia, Chorea, Choreoathetosis, Progressive microcephaly ORPHA:71277
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Congenital Muscular Dystrophy With Intellectual Disability
Microcephaly, Abnormality of the tongue muscle, Respiratory insufficiency, Feeding difficulties, ... ORPHA:370968
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Ataxia, Microcephaly, Respiratory insufficiency, Cerebral atrophy, Respiratory failure, Ne... OMIM:610127
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Atelectasis, Feeding difficulties, High palate, Neonatal ... OMIM:300219
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... ORPHA:79127
Hydrocephalus, Congenital, X-Linked
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age... OMIM:307000
Band Heterotopia
Gray matter heterotopia, Hydrocephalus, Subcortical band heterotopia, Polymicrogyria OMIM:600348
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis, Acrocyanosis, Microcephaly ORPHA:896
Pontocerebellar Hypoplasia Type 1
Ataxia, Congenital laryngeal stridor, Feeding difficulties, Degeneration of anterior horn cells, ... ORPHA:2254
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal tracts, Degeneration of ... OMIM:105400
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Feeding difficulties in infancy, Respiratory insufficiency due to muscle we... ORPHA:254875
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phosp... OMIM:610910
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness, Respira... ORPHA:2590
Pyruvate Dehydrogenase E1-Beta Deficiency
Ataxia, Periventricular cysts, Hypoplasia of the corpus callosum, Short corpus callosum, Corticos... ORPHA:255138
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Microcephaly, Dyspnea, Respiratory failure, Median cleft lip and palate ORPHA:1832
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal pyramidal tract morphology, Hypoplasia of the corpus callosum, Leukoencephalopathy, Cere... ORPHA:83629
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Abdominal pain, Productive cough, Nonproductive cou... ORPHA:454836
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Ataxia, Chorea, Respiratory failure, Gastroesophageal reflux, Decreased liver function, Abnormal ... ORPHA:70472
Spastic Paraplegia 3, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Hypoplasia of the corpus callosum, Degeneration ... OMIM:182600
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... ORPHA:2004
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida, Abnormality of neuronal migration ORPHA:945
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Microcephaly, A... ORPHA:2257
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Pulmonary... ORPHA:36238
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... ORPHA:91359
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Cerebral atrophy, Fee... OMIM:245400
Spastic Paraplegia 7, Autosomal Recessive
Spastic ataxia, Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in... OMIM:607259
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Poor appetite, Abdominal pain OMIM:616794
Hereditary Methemoglobinemia
Cyanosis, Microcephaly, Temporal cortical atrophy, Exertional dyspnea, Athetosis, Frontal cortica... ORPHA:621
Spastic Paraplegia 2, X-Linked
Dysmetria, Degeneration of the lateral corticospinal tracts OMIM:312920
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Central hypoventilation, Ataxia, Leukoencephalopathy, Feeding difficulties, Dysmetria, Res... OMIM:618233
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Gastroesophageal reflux, Cough, Pu... ORPHA:2414
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis... ORPHA:95430
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Feeding difficulties in infancy, Simplified gyral pattern, Lateral ventricle dilatation, Lissence... ORPHA:284417
Spastic Paraplegia 6, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Degeneration of the lateral corticospinal tracts OMIM:600363
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... ORPHA:103907
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Abnormal cortical gyration, Respiratory failure, Pulmonary hypopla... OMIM:616867
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Trehalase Deficiency
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting ORPHA:103909
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Multiple Mitochondrial Dysfunctions Syndrome 3
Microcephaly, Cerebral atrophy, Feeding difficulties, Respiratory insufficiency, Respiratory fail... OMIM:615330
Alg1-Cdg
Abnormality of the gastrointestinal tract, Chronic diarrhea, Cerebral atrophy, Respiratory failur... ORPHA:79327
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory system physiology,... ORPHA:449280
Narp Syndrome
Abnormal basal ganglia MRI signal intensity, Ataxia, Progressive gait ataxia, Corticospinal tract... ORPHA:644
Idiopathic Pulmonary Hemosiderosis
Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Ground-glass o... ORPHA:99931
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Ataxia, Abdominal pain, Malabsorption, Abdominal distention, Gastr... OMIM:613662
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Ty... OMIM:615191
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Autosomal Dominant Spastic Paraplegia Type 73
Impaired vibration sensation in the lower limbs, Degeneration of the lateral corticospinal tracts ORPHA:444099
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure, Abdominal pain ORPHA:890
Combined Oxidative Phosphorylation Defect Type 23
Abnormal basal ganglia MRI signal intensity, Cyanosis, Feeding difficulties in infancy, Abnormal ... ORPHA:444013
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Neurona... ORPHA:275872
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhin... OMIM:244400
Hyperekplexia 4
Respiratory failure, High palate, Cerebral atrophy OMIM:618011
Short-Rib Thoracic Dysplasia 12
Intestinal malrotation, Hamartoma of tongue, Atelectasis, Hydrocephalus, Anencephaly, Respiratory... OMIM:269860
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Acute Lung Injury
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... ORPHA:178320
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth, A... OMIM:276950
Autosomal Dominant Spastic Paraplegia Type 19
Impaired vibration sensation in the lower limbs, Impaired proprioception, Limb ataxia, Degenerati... ORPHA:100999
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Protruding tongue, Atelectasis, Intercostal muscle weakness, Respiratory insuffi... ORPHA:258
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Abnormality of neuronal migration, Gray m... ORPHA:101030
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Tongue atrophy, Respiratory failure, Dysphagia OMIM:613435
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Thin corpus callosum OMIM:620326
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Cyanosis, Dysplastic corpus callosum, ... ORPHA:488627
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Ataxia, Neurofibrillary tangles, Jaundice, Respi... OMIM:607625
Autosomal Dominant Spastic Paraplegia Type 8
Impaired vibration sensation in the lower limbs, Limb dysmetria, Limb ataxia, Degeneration of the... ORPHA:100989
Snakebite Envenomation
Epistaxis, Angioedema, Erythema, Neuromuscular dysphagia, Diarrhea, Pseudobulbar paralysis, Respi... ORPHA:449285
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... OMIM:608647
Zygomycosis
Sinusitis, Acute infectious pneumonia, Air crescent sign, Unusual gastrointestinal infection, Col... ORPHA:73263
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Ground-glass opacification, Pulmonary cap... ORPHA:199241
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ataxia, M... OMIM:618426
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Atelectasis, Odynophagia, Fulminant hepatitis, Diarrhea, Nonprodu... ORPHA:319213
Spastic Paraplegia 4, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Degeneration of the lateral corticospinal tracts OMIM:182601
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory insufficiency due to muscle weakness, Perisylvian polymicrogyria, Feed... OMIM:618291
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Microcephaly, Feeding difficulties, Macroglossia, Abnormal cerebral white matter morphology, Rest... OMIM:606612
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Nausea, Somatic sensory dysfunction ORPHA:71211
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Central hypoventilation, Feeding difficulties, Chronic constipation, Respiratory failure, ... OMIM:619483
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Abdominal pain, Atelectasis, Hydro... ORPHA:538
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Poor appetite, Microcephaly, Respiratory insufficiency due to muscle weakness, Dyspnea, Diarrhea,... ORPHA:352447
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Eosinophilia, Atelectasis, Cleft palate, Cough, Generalized abn... ORPHA:2314
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Encephalopathy, Ethylmalonic
Death in infancy, Ataxia, Chronic diarrhea, Feeding difficulties, Focal T2 hyperintense basal gan... OMIM:602473
Autosomal Dominant Spastic Paraplegia Type 42
Impaired vibration sensation in the lower limbs, Degeneration of the lateral corticospinal tracts ORPHA:171863
Immunodeficiency 54
Recurrent respiratory infections, Microcephaly, Respiratory insufficiency, Adrenocorticotropic ho... OMIM:609981
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Diarrhea, Tachypnea, Respiratory insufficiency, Fe... OMIM:618278
Neuropathy, Congenital Hypomyelinating, 3
Microcephaly, Narrow palate, Respiratory insufficiency, Respiratory failure, Gastroesophageal ref... OMIM:618186
Autosomal Dominant Spastic Paraplegia Type 37
Impaired vibration sensation in the lower limbs, Degeneration of the lateral corticospinal tracts ORPHA:171612
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hypoplasia of the pyramidal tract, Pachygyria, Hydrocephalus, Respiratory insuffic... OMIM:253800
Spinocerebellar Ataxia Type 1
Chorea, Impaired proprioception, Dysmetria, Progressive cerebellar ataxia, Respiratory failure, D... ORPHA:98755
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... ORPHA:60025
Laryngeal Abductor Paralysis
Stridor, Microcephaly, Cyanosis, Dysphagia OMIM:150260
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev... ORPHA:70578
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... ORPHA:2924
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Esophageal Atresia
Respiratory distress, Bronchitis, Feeding difficulties in infancy, Gastrointestinal dysmotility, ... ORPHA:1199
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Pain insensitivity, Telangi... ORPHA:679
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Caudate atrophy, Ataxia, Cerebral atrophy, Gait ataxia, Resp... ORPHA:363400
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Progeroid facial appearance, Pyloric stenosis, Rectal prolapse, Atelectasis, Re... OMIM:613177
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... ORPHA:747
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Ataxia, Tachypnea, Respiratory insufficiency, Respiratory... OMIM:614299
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ataxia, Mi... ORPHA:209905
Farber Disease
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... ORPHA:333
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Recurrent respiratory infections, Intestinal obstruction, Death in infancy, Jejunal atresia, Inte... OMIM:243150
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Microcephaly, Cerebral atrophy, Feeding difficulties, Dysphagia, Death in childhood, Lateral vent... OMIM:619847
Mercury Poisoning
Respiratory distress, Anorexia, Dyspnea, Episodic abdominal pain, Abnormal cerebral white matter ... ORPHA:330021
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Feeding difficulties, Respiratory failure, Stillbirth, Decreased liver function... OMIM:614922
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Intracerebral periventricular calcifications, Neonatal respiratory distress, Ap... OMIM:608836
Autosomal Dominant Spastic Paraplegia Type 38
Frontotemporal cerebral atrophy, Impaired vibration sensation in the lower limbs, Degeneration of... ORPHA:171617
Riddle Syndrome
Conjunctival telangiectasia, Ataxia, Pneumonia, Bronchitis, Abdominal pain, Microcephaly, Neonata... ORPHA:420741
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo... OMIM:620296
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Bowel incontinence, Megalencephaly, Hydrocephalus, Respirato... OMIM:616482
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Ataxia, Tachypnea, Cerebral atrophy, Respiratory failure, Death in childhood, Abnormal periventri... OMIM:615838
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Ataxia, Intermittent episodes ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Ataxia, Intermittent episodes ... ORPHA:98914
Autosomal Dominant Spastic Paraplegia Type 12
Bowel incontinence, Degeneration of the lateral corticospinal tracts, Impaired vibration sensatio... ORPHA:100993
Leigh Syndrome
Ataxia, Respiratory insufficiency, Respiratory failure, Focal substantia nigra T2 hyperintensity,... OMIM:256000
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Cyanosis, Microcephaly, Gastrointestinal dysmotility, Cerebral atrophy,... ORPHA:391428
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Basal ganglia calcification, Narrow palate, Gait ataxia, Dysmetria, Distal sensory impair... OMIM:616505
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebral white matter atrophy, Ataxia, Myelopathy, Leukoencephalopathy, Cervical myelopathy, Brad... OMIM:617186
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Abnormal stomach morphology, Neonatal asphyxia, Abnormal lung mor... ORPHA:141127
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... ORPHA:1201
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory failure, Dysph... OMIM:613954
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Feedi... ORPHA:137914
Congenital Pancreatic Cyst
Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting ORPHA:313906
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Intestinal obstruction, Recurrent intrapulmonary hemorrhage, Cutis marmorata... ORPHA:183
Intermediate Nemaline Myopathy
High, narrow palate, Respiratory failure, Dysphagia ORPHA:171433
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Pneumonia, Respiratory tract infection, Atelectas... ORPHA:51636
Primary Effusion Lymphoma
Dyspnea, Abdominal distention, Pleural effusion, Abdominal pain ORPHA:48686
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Leukoencephalopathy, Feeding difficulties, Respirato... OMIM:605711
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure, Anorexia OMIM:619386
Leigh Syndrome
Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Ataxia, Gastrointest... ORPHA:506
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Ataxia, Abdominal pain, Feeding difficulties, Respiratory failure, Dysphagia OMIM:620166
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Lissencephaly, Pachygyria, Polymicrogyria ORPHA:300573
Restrictive Dermopathy 2
Respiratory distress, Cyanosis, Rectal prolapse, Feeding difficulties, Gastroesophageal reflux OMIM:619793
Car T Cell Therapy-Associated Cytokine Release Syndrome
Poor appetite, Diarrhea, Tachypnea, Hypoxemia, Respiratory failure, Vomiting, Pleural effusion, N... ORPHA:542323
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Microlissencephaly, Lissenceph... OMIM:616212
Volvulus Of Midgut
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... OMIM:193250
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure, Feeding difficulties OMIM:618240
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Gastroparesis, Recurrent infections due to aspira... ORPHA:70
Acquired Methemoglobinemia
Respiratory distress, Cyanosis, Abdominal pain, Dyspnea, Hypoxemia, Vomiting ORPHA:464453
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Abdominal distention, Jaundice, Gastrointestinal dysmot... ORPHA:90051
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Tachypnea, Degeneration of anterior horn cells, Respiratory failure, Constipation, Inspiratory st... OMIM:604320
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Gastrointestinal infarctions, Pleural em... ORPHA:2038
Congenital Heart Block
Feeding difficulties in infancy, Pleural effusion, Cyanosis, Crackles ORPHA:60041
Adiposis Dolorosa
Abdominal distention, Constipation, Painful subcutaneous lipomas OMIM:103200
Hypoadrenocorticism, Familial
Feeding difficulties in infancy, Cyanosis, Vomiting, Apnea OMIM:240200
Hemimegalencephaly
Gray matter heterotopia, Pachygyria, Polymicrogyria ORPHA:99802
Autosomal Dominant Spastic Paraplegia Type 41
Degeneration of the lateral corticospinal tracts ORPHA:320355
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Poor appetite, Abdominal... ORPHA:298
Sarcoidosis, Susceptibility To, 2
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infi... OMIM:612387
Microform Holoprosencephaly
Microcephaly, Asthma, Panhypopituitarism, Cleft palate, Holoprosencephaly, Agenesis of corpus cal... ORPHA:280200
Ethylmalonic Encephalopathy
Abnormal basal ganglia MRI signal intensity, Ataxia, Diarrhea, Acrocyanosis, Petechiae ORPHA:51188
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microcephaly, Hypoplastic anterior commissure, Furrowed tongue, Feeding difficulties, Gastroesoph... OMIM:616975
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Meckel Syndrome 14
Occipital encephalocele, Cyanosis, Abdominal distention, Pneumothorax, Cardiorespiratory arrest, ... OMIM:619879
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Pericallosal lipoma, Cyanosis, Hydrocepha... ORPHA:3309
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Leukoencephalopat... OMIM:220110
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Gastroesophageal reflux, Apnea ORPHA:1949
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Bowel incontinence, Respiratory tract infection, Atelectasis, Fe... ORPHA:365
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Ataxia, Abdominal pain, Diarrhea, Erythema, ... ORPHA:343
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Atelectasis, Hydrocephalus, Respiratory insufficie... ORPHA:536467
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Microcephaly, Simplified gyral pattern, Abnormal cerebral white matter morphology, Hypoplasia of ... OMIM:614407
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Ataxia, Bowel incontinence, Recurrent pneumon... ORPHA:496641
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Gastrostomy tube feeding in infancy, Dysphagia, Feeding d... OMIM:620278
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Aplasia/Hypoplasia of the tongue, Dyspnea... ORPHA:2759
Amyotrophic Lateral Sclerosis
Nausea and vomiting, Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Xerostomia, Ab... ORPHA:803
Leber Congenital Amaurosis
Encephalocele, Abnormality of neuronal migration ORPHA:65
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Abnormal basal ganglia morphology, Cerebral atrophy, Feeding difficulties, Choreoat... ORPHA:445038
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory failure, Ataxia ORPHA:1861
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Multifocal hyperintensity of cerebral white matter on MRI, Respiratory fail... ORPHA:308552
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria ORPHA:370980
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Respiratory failure, C... ORPHA:1194
Combined Oxidative Phosphorylation Deficiency 53
Death in infancy, Dysplastic corpus callosum, Abdominal distention, Secondary microcephaly, Death... OMIM:619423
Stromme Syndrome
Jejunal atresia, Intestinal malrotation, Microcephaly, Hydrocephalus, Cleft palate, Stillbirth, A... OMIM:243605
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Ataxia, Pneumonia, Hypercapnia, Respiratory t... ORPHA:79138
Infantile Krabbe Disease
Respiratory distress, Diffuse cerebral atrophy, Hypointensity of cerebral white matter on MRI, Na... ORPHA:206436
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Recurrent pneumonia, Cleft palate, Respiratory failure, High palat... OMIM:620249
Aicardi-Goutieres Syndrome 1
Intracerebral periventricular calcifications, Microcephaly, Feeding difficulties in infancy, Basa... OMIM:225750
Breath-Holding Spells
Cyanosis OMIM:607578
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Death in infancy, Subcortical heterotopia, Agyria, Hydrocephalus, Gray matter hete... OMIM:614643
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Jaundice, Cerebral atrophy, Feeding difficulties, Hypopnea, Respiratory ... OMIM:617248
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Aganglionic megacolon, Intestinal malrotation, Bowel incontinence, M... ORPHA:567
Fanconi Anemia, Complementation Group B
Death in infancy, Esophageal atresia, Hydrocephalus, Abnormal lung lobation, Tracheoesophageal fi... OMIM:300514
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Recurrent respiratory infections, Respiratory failure, Bruising susceptibility ORPHA:3226
Smith-Magenis Syndrome
Microcephaly, Feeding difficulties in infancy, Impaired pain sensation, Cleft palate, Aplasia/Hyp... ORPHA:819
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria ORPHA:2512
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Simplified gyral pattern, Periventricular heterotopia OMIM:616171
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea, Ataxia, Microcephaly, Protruding tongue, Gait ataxia, Choreoathetosis, Thin corp... OMIM:619580
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea, Ataxia, Abdominal distention, Chorea, Frontotemporal cerebral atrophy ORPHA:79097
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Cleft palate, Ectopic anus, High palate, Gastroeso... ORPHA:2059
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Meconium ileus, Respiratory insufficiency, Feeding difficulties, Hyperintensity ... OMIM:617239
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Buerger Disease
Acrocyanosis, Paresthesia ORPHA:36258
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure, Polymicrogyria, Microcephaly OMIM:610678
Pelizaeus-Merzbacher Disease, Connatal Form
Ataxia, Confluent hyperintensity of cerebral white matter on MRI, Macrogyria, Respiratory failure... ORPHA:280210
Double Outlet Right Ventricle
Cyanosis, Intestinal malrotation, Submucous cleft hard palate, Tachypnea, Cleft palate, Feeding d... ORPHA:3426
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Pachygyria, Abnormality of neuronal migration OMIM:608840
Boutonneuse Fever
Abdominal pain, Diarrhea, Respiratory failure, Nausea, Petechiae ORPHA:83313
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Allergic rhinitis, Eosinophilia, Malabsorption, Abdomi... ORPHA:2070
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting OMIM:615863
Histiocytoid Cardiomyopathy
Cyanosis, Hydrocephalus, Tachypnea, Cleft palate, Vomiting, Cough, Agenesis of corpus callosum, P... ORPHA:137675
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pneumonia, Abnormal respiratory system physiology, Feeding diff... ORPHA:98905
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Thyroid Hemiagenesis
Macroglossia, Jaundice, Constipation, Abdominal distention ORPHA:95719
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Cyanosis, Apnea, Ataxia, Microcephaly, Feeding difficulties in infancy, Focal T... OMIM:252010
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Abnormality of neuronal migration OMIM:300049
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Microcephaly, Partial agenesis of the corpus callosum, Partial anomal... OMIM:617478
Ethylene Glycol Poisoning
Cyanosis, Gastritis, Ataxia, Abnormal pattern of respiration, Tachypnea, Episodic respiratory dis... ORPHA:31826
Congenital Fibrinogen Deficiency
Cyanosis, Abdominal pain, Volvulus, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Vascular Hyalinosis
Cerebral calcification, Malabsorption, Diarrhea, Premature graying of hair, Hematochezia, Protein... OMIM:277175
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Apnea, Ataxia, Dyspnea, Respiratory failure, Pulmonary hy... OMIM:615636
Sandestig-Stefanova Syndrome
Respiratory failure, High palate, Hypoplasia of the corpus callosum, Primary microcephaly OMIM:618804
Relapsing Polychondritis
Atelectasis, Dyspnea, Erythema, Anteriorly placed anus, Recurrent aphthous stomatitis, Cough, Abn... ORPHA:728
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... OMIM:615512
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis, Microcephaly OMIM:250800
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly ORPHA:89844
Multiple Acyl-Coa Dehydrogenase Deficiency
Reye syndrome-like episodes, Dyspnea, Cardiorespiratory arrest, Feeding difficulties, Restrictive... ORPHA:26791
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Recurrent pneumonia, Air bronchogram, Rectal abscess, Cough, Pleural effusion OMIM:306400
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Achalasia, Acrocyanosis ORPHA:2400
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... ORPHA:263665
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebral calcification, Hydrocephalus, Respiratory failure, Hypoplasia of the corpus callosum, Po... OMIM:616538
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Microcephaly, High, narrow palate, Dyspnea, Feeding difficulties, Respirato... ORPHA:2707
Alpha-1-Antitrypsin Deficiency
Jaundice, Emphysema, Hepatic failure ORPHA:60
Bloom Syndrome
Pneumonia, Bronchitis, Poor appetite, Esophageal neoplasm, Respiratory tract infection, Chronic p... ORPHA:125
Nephronophthisis 2
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency OMIM:602088
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s... OMIM:300048
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea, Cerebral atrophy, Hepatic failure OMIM:261680
Achondrogenesis, Type Ib
Abdominal distention, Stillbirth, Respiratory insufficiency OMIM:600972
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diffuse cerebral atrophy, Diarrhea, Respiratory failure, Vomiting, Subcortical white matter calci... ORPHA:3240
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Dyspnea, Abdominal distention OMIM:174050
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia, Dysphagia ORPHA:171430
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Holoprosencephaly, Abnormality of neuronal migration ORPHA:93274
Porphyria Due To Ala Dehydratase Deficiency
Increased fecal coproporphyrin 3, Abdominal pain, Abdominal distention, Diarrhea, Respiratory ins... ORPHA:100924
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Simplified gyral pattern, Periventricular heterotopia OMIM:618273
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Distal sensory impairment, Intercostal muscle weakness OMIM:606071
Peripartum Cardiomyopathy
Orthopnea, Crackles, Abdominal pain, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pu... ORPHA:563
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... ORPHA:160148
Adrenomyeloneuropathy
Cerebral dysmyelination, Bowel incontinence, Dysesthesia, Atrophy/Degeneration involving the cort... ORPHA:139399
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cerebral calcification, Intestinal malrotation, Microcephaly, Cough, Tachypnea, Esophageal varix,... OMIM:613658
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Spondylocostal Dysostosis 1, Autosomal Recessive
Recurrent respiratory infections, Abdominal distention, Protuberant abdomen, Death in infancy OMIM:277300
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Hydrocephalus, Decreased thalamic volume, Gray matter heterotopia, Polym... ORPHA:370959
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Microcephaly, Alobar holoprosencephaly, Submucous cleft hard palate, Cleft... OMIM:301043
Edinburgh Malformation Syndrome
Hydrocephalus, Abnormality of neuronal migration ORPHA:1895
Poliomyelitis
Respiratory failure requiring assisted ventilation, Anorexia, Paralytic ileus, Respiratory failur... ORPHA:2912
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Hiatus hernia, Pyl... ORPHA:3342
Glutathionuria
Gray matter heterotopia OMIM:231950
Mosaic Variegated Aneuploidy Syndrome 1
Hypodysplasia of the corpus callosum, Feeding difficulties in infancy, Microcephaly, Hydrocephalu... OMIM:257300
Athyreosis
Macroglossia, Constipation, Abdominal distention, Feeding difficulties ORPHA:95713
Goodpasture Syndrome
Cyanosis, Nodular pattern on pulmonary HRCT, Crackles, Ground-glass opacification, Increased DLCO... OMIM:233450
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Hypocomplementemic Urticarial Vasculitis
Nausea and vomiting, Ataxia, Abdominal pain, Dyspnea, Angioedema, Emphysema, Diarrhea, Restrictiv... ORPHA:36412
Abetalipoproteinemia
Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Chronic diarrhea, Impaired ... ORPHA:14
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Abdominal pain, Malabsorption ORPHA:100025
Congenital Disorder Of Glycosylation, Type Ih
Death in infancy, Abdominal distention, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased... OMIM:608104
Fanconi Anemia, Complementation Group W
Abnormal periventricular white matter morphology, Microcephaly, Decreased response to growth horm... OMIM:617784
Walker-Warburg Syndrome
Abnormal cortical gyration, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Macrogy... ORPHA:899
Niemann-Pick Disease Type C
Ataxia, Jaundice, Abnormal lung morphology, Chorea, Cerebral atrophy, Feeding difficulties, Respi... ORPHA:646
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Feeding difficulties in infancy, Abdominal distention, Macroglossia, Consti... ORPHA:226313
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Fibrodysplasia Ossificans Progressiva
Basal ganglia calcification, Respiratory failure, Respiratory insufficiency OMIM:135100
Neurocutaneous Melanocytosis
Death in infancy, Meningocele, Abnormality of neuronal migration ORPHA:2481
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Microcephaly, Respiratory insufficiency, Hepatic failure ORPHA:159
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno... ORPHA:555874
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Microcephaly, Respiratory failure, Hypoplasia of the corpus callosum, Dysphagia OMIM:617301
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Death in infancy, Malabsorption, Feeding difficulties in infanc... ORPHA:534
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Orbital encephalocele OMIM:164180
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Pituitary null... ORPHA:913
Mitchell-Riley Syndrome
Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly placed anus, Acholic... OMIM:615710
S-Adenosylhomocysteine Hydrolase Deficiency
Microcephaly, Respiratory failure, Hypoplasia of the corpus callosum, Hepatocellular carcinoma, H... ORPHA:88618
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Feeding di... ORPHA:1329
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:187300
Eosinophilic Fasciitis
Acrocyanosis, Paresthesia, Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Cerebral atrophy, Lobar holoprosencep... ORPHA:468631
Osteopetrosis, Autosomal Recessive 5
Microcephaly, Diffuse white matter abnormalities, Hydrocephalus, Cerebral atrophy, Respiratory fa... OMIM:259720
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:617201
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption OMIM:606824
Jacobsen Syndrome
Recurrent respiratory infections, Death in infancy, Intestinal malrotation, Spina bifida, Feeding... ORPHA:2308
Malignant Peritoneal Mesothelioma
Abdominal pain, Dyspnea, Abdominal distention, Peritonitis, Ileus ORPHA:168811
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Abnormal cortical gyration, Exencephaly, Abnormality of neuronal migration, Macrog... ORPHA:2211
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Feeding difficulties in infancy, Diarrhea, Decreased sens... OMIM:223900
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Poor appetite, Respiratory insufficiency due to mu... ORPHA:2020
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Decreased response to growth hormone stimulation test, Central hypoven... ORPHA:293987
Dravet Syndrome
Progressive gait ataxia, Cyanotic episode ORPHA:33069
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Tachypnea, Anomalous pulmonary venous return ORPHA:860
Pitt-Hopkins Syndrome
Aganglionic megacolon, Ataxia, Hiatus hernia, Microcephaly, Feeding difficulties, Aplasia/Hypopla... ORPHA:2896
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematoche... OMIM:175500
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency, Feeding difficul... OMIM:613845
Listeriosis
Respiratory distress, Somatic sensory dysfunction, Ataxia, Pneumonia, Miscarriage, Abdominal pain... ORPHA:533
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Microcephaly, Abdominal distention, Cleft palate OMIM:613885
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Hydrocephalus, Feeding difficulties, Macroglossia, Pleural... OMIM:261740
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Hepatic failure, Nonarteriosclerotic cerebral calcification OMIM:210050
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Anal stenosis, Recurrent respiratory infections, Microcephaly... ORPHA:647
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Emphysema, Facial erythema OMIM:618307
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cleft hard palate, Large basal ganglia, Abnormality of the pulmonary artery, Agenesis of corpus c... ORPHA:261552
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Feeding difficulties in infancy, Gastrointestinal dysmotility, Simplifi... ORPHA:500150
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Ataxia, Feeding difficulties in infancy, Dyspnea, Respiratory insufficiency, Re... OMIM:610505
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Abdominal pain, Hematemesis, Dyspnea, Diarrhea, Melen... ORPHA:340
Peroxisome Biogenesis Disorder 4A (Zellweger)
Feeding difficulties in infancy, Death in infancy, Respiratory failure OMIM:614862
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia, Microcephaly ORPHA:1867
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Protein-losing enteropathy, Chronic sinusitis OMIM:613502
Tarp Syndrome
Cyanosis, Apnea, Cleft palate, Glossoptosis, Pulmonary hypoplasia, Abnormal duodenum morphology, ... ORPHA:2886
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Chand Syndrome
Atelectasis, Bifid tongue, Ataxia, Cleft palate ORPHA:1401
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Microcephaly, Cortical dysplasi... ORPHA:268943
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cleft palate, Stillbirth, Pulm... OMIM:229850
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Orthopnea, Cyanosis, Abnormal pulmonary thoracic imaging findin... ORPHA:980
Nocardiosis
Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Peritonitis, Em... ORPHA:31204
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Pulmonary embolism, Feeding difficulties in infancy, Colitis, Vomiting, Cou... ORPHA:3260
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent respiratory infections, Cerebral white matter atrophy, Abdominal distention, Hypoperist... OMIM:619365
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, High palate, Microcephaly ORPHA:3304
Wolman Disease
Nausea and vomiting, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea, Hepatic f... ORPHA:75233
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Absent septum pellucidum, Microcephaly, Dyspnea, Hydrocephalus, Erythema, F... ORPHA:2556
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Paresthesia, Hy... ORPHA:2905
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Abdominal distention, Diarrhea, Dyspnea, Intermittent jaundice, Neoplasm of the lung, N... ORPHA:100085
Desmosterolosis
Abnormal cortical gyration, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Macrogy... ORPHA:35107
Anterior Cutaneous Nerve Entrapment Syndrome
Somatic sensory dysfunction, Anorexia, Abdominal pain, Abdominal distention, Impaired tactile sen... ORPHA:51890
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... ORPHA:99106
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy ORPHA:103910
Chylomicron Retention Disease
Abdominal distention, Diarrhea, Impaired proprioception, Vomiting, Steatorrhea, Fat malabsorption ORPHA:71
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Apnea, Microcephaly, Abnormal lung lobation, Cleft palate, Aplasia/Hypoplas... ORPHA:1052
Criss-Cross Heart
Cyanosis, Respiratory insufficiency, Feeding difficulties ORPHA:1461
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, Feeding difficulties, Respiratory failure, Secondary microcephaly, Dec... OMIM:618329
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Radio-Renal Syndrome
Respiratory distress, High, narrow palate, Dyspnea, Respiratory failure, Chylothorax, Pleural eff... ORPHA:3015
Dermatomyositis
Recurrent respiratory infections, Abnormal eosinophil morphology, Telangiectasia of the skin, Gas... ORPHA:221
Primary Peritoneal Carcinoma
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation ORPHA:168829
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Kallmann Syndrome-Heart Disease Syndrome
Midgut malrotation, Pulmonary artery hypoplasia, Cyanosis, Cleft palate ORPHA:2326
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Neonatal respiratory distress, Intestinal malrotation, Esophageal atresia, Pulmonary artery steno... OMIM:265380
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Malabsorption, Chronic diarrhea, Steatorrhea, Cutaneous photosensitivity ORPHA:3217
Mitochondrial Trifunctional Protein Deficiency
Feeding difficulties in infancy, Respiratory insufficiency, Respiratory failure, Poor suck, Chron... ORPHA:746
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoventilation, Death in infancy, Microcephaly, Abdominal distention, Feeding difficulties, Gast... OMIM:620275
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency, Feeding difficulties OMIM:609015
Al Amyloidosis
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Gastroparesis, Abdominal ... ORPHA:85443
Miller-Dieker Lissencephaly Syndrome
Microcephaly, Midline brain calcifications, Cleft palate, Lissencephaly, Hypoplasia of the corpus... OMIM:247200
Gaucher Disease, Type Ii
Death in infancy, Apnea, Cough, Cerebral atrophy, Feeding difficulties, Stridor, Gastroesophageal... OMIM:230900
Ovarian Fibroma
Abdominal distention, Pleural effusion, Peritonitis, Abdominal pain ORPHA:314473
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Hypoventilation, Spontaneous pneumothorax, Jaund... ORPHA:731
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention, Thin corpus callosum OMIM:619345
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Microcephaly, Gastrointestinal dysmotility, Thick corpus callosum, Hyperi... OMIM:617798
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Microcephaly, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Spina b... OMIM:619227
Familial Dysautonomia
Recurrent respiratory infections, Ataxia, Abnormal pleura morphology, Impaired pain sensation, Fe... ORPHA:1764
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Decreased nasal nitric oxide, Chronic sinusitis, Intestinal malrotation, Duodenal atresia OMIM:619608
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis OMIM:604571
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Achondrogenesis Type 1A
Aplasia/Hypoplasia of the lungs, Abdominal distention ORPHA:93299
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Abdominal distention, Jaundice, Hypoplasia of the corpus callosum, Thi... OMIM:618528
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Letterer-Siwe Disease
Abdominal distention, Jaundice, Dyspnea, Pulmonary infiltrates, Stomatitis OMIM:246400
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Diarrhea, Death in childhood, Protein-losing enteropathy, Vomiting, Steatorrhea,... OMIM:602579
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Absent septum pellucidum, Microcephaly, Abnormal cerebral white matter morpholo... OMIM:300868
Thanatophoric Dysplasia, Type I
Neonatal death, Gray matter heterotopia, Hydrocephalus OMIM:187600
Lead Poisoning
Somatic sensory dysfunction, Miscarriage, Anorexia, Abdominal pain, Abdominal distention, Asthma,... ORPHA:330015
Thanatophoric Dysplasia
Gray matter heterotopia, Hydrocephalus ORPHA:2655
Martinez-Frias Syndrome
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Duoden... OMIM:601346
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Feeding difficulties, Protein-losing enteropathy, Spontaneous pneumothorax OMIM:618154
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:600376
Methemoglobinemia And Ambiguous Genitalia
Cyanosis, Elevated circulating luteinizing hormone level OMIM:250790
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Bilateral trilobed lung, Cyanosis, Posteriorly placed anus, Aqueductal sten... OMIM:306955
Peroxisome Biogenesis Disorder 13A (Zellweger)
Neonatal death, Gray matter heterotopia, Polymicrogyria OMIM:614887
Alternating Hemiplegia Of Childhood
Abnormality of the gastrointestinal tract, Respiratory distress, Apnea, Ataxia, Anorexia, Oral-ph... ORPHA:2131
Focal Dermal Hypoplasia
Acute hepatic failure, Telangiectasia of the skin, Spina bifida, Abdominal pain, Erythema, Aplasi... ORPHA:2092
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Abdominal pain, Abdominal distention, Ileus, Neoplasm of the lung ORPHA:83469
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Cortical dysplasia, Pituitary adenoma, Noncomm... ORPHA:805
Joubert Syndrome
Encephalocele, Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration ORPHA:475
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Li... OMIM:615219
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... OMIM:155310
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Esophageal stricture, Pneumothorax, Malnutrition, Gastr... ORPHA:79404
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure, Cerebral cortical atrophy, Dysgyria OMIM:620327
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Fraser Syndrome 2
Intestinal malrotation, Abdominal distention, Rectal atresia, Respiratory failure, Anal atresia OMIM:617666
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... OMIM:277320
Duodenal Atresia
Abnormality of the pulmonary artery, Duodenal atresia ORPHA:1203
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Celiac Disease, Susceptibility To, 1
Cerebral calcification, Ataxia, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, V... OMIM:212750
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous... ORPHA:99104
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
Nephrotic Syndrome, Type 1
Pyloric stenosis, Neonatal respiratory distress, Gastroesophageal reflux, Abdominal distention OMIM:256300
Digeorge Syndrome
Microcephaly, High, narrow palate, Atelectasis, Recurrent pneumonia, Chronic pulmonary obstructio... OMIM:188400
Acute Intermittent Porphyria
Nausea and vomiting, Somatic sensory dysfunction, Abdominal pain, Abdominal distention, Diarrhea,... ORPHA:79276
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abdominal distention, Hepatocellular carcinoma ORPHA:369
Mosaic Variegated Aneuploidy Syndrome 2
Microcephaly, Abnormal lung lobation, Decreased response to growth hormone stimulation test, Duod... OMIM:614114
Congenital Contractural Arachnodactyly
Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia ORPHA:115
Liver Failure, Infantile, Transient
Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal distention, J... OMIM:613070
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Intestinal atresia ORPHA:3405
3C Syndrome
Death in infancy, Hydrocephalus, Abnormality of neuronal migration ORPHA:7
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Intestinal malrotation, Pulmonary artery hypoplasia, Total anomalous pulmonary venous r... OMIM:616749
Galloway-Mowat Syndrome
Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration ORPHA:2065
Neu-Laxova Syndrome
Abnormal cortical gyration, Spina bifida, Pachygyria, Abnormality of neuronal migration, Macrogyr... ORPHA:2671
Fanconi Anemia, Complementation Group F
Microcephaly, Pneumonia, Decreased response to growth hormone stimulation test, Duodenal atresia OMIM:603467
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... ORPHA:99050
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Intestinal pseudo-obstruction, Decreased resp... ORPHA:273
Qazi-Markouizos Syndrome
High, narrow palate, Chronic constipation, Abdominal distention ORPHA:3010
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Respiratory distress, Pain insensitivity, Ataxia, Reye syndrome-like episo... OMIM:256810
Myasthenia Gravis
Dyspnea, Acrocyanosis, Paresthesia, Dysphagia ORPHA:589
Smith-Lemli-Opitz Syndrome
Diffuse cerebral atrophy, Partial agenesis of the corpus callosum, Gastrointestinal dysmotility, ... OMIM:270400
Ovarian Hyperstimulation Syndrome
Nausea and vomiting, Abdominal pain, Abdominal distention, Increased circulating gonadotropin lev... ORPHA:64739
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Abnormality of neuronal migration ORPHA:2318
Costello Syndrome
Pyloric stenosis, Hydrocephalus, Pneumothorax, Cerebral atrophy, Respiratory insufficiency, Macro... OMIM:218040
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Lis... ORPHA:63259
Ovarian Fibrothecoma
Abdominal distention, Pleural effusion, Peritonitis, Abdominal pain ORPHA:314478
Colonic Atresia
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Acquired Purpura Fulminans
Hepatic failure, Acrocyanosis, Macular purpura ORPHA:49566
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Vomiting, Cerebral atrophy, Death in childhood OMIM:618252
Lethal Acantholytic Erosive Disorder
Respiratory failure, Fragile skin, Cleft palate ORPHA:158687
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Dyrk1A-Related Intellectual Disability Syndrome
Anterior pituitary hypoplasia, Microcephaly, Pyloric stenosis, Feeding difficulties, Gastroesopha... ORPHA:464306
Williams Syndrome
Rectal prolapse, Dysmetria, Gastroesophageal reflux, Spina bifida occulta, Prematurely aged appea... ORPHA:904
X-Linked Acrogigantism
Enlarged pituitary gland, Ataxia, Elevated circulating growth hormone concentration, Abdominal di... ORPHA:300373
Plasminogen Deficiency, Type I
Hydrocephalus, Recurrent upper respiratory tract infections, Duodenal ulcer OMIM:217090
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Abdominal pain, Abdominal distention, Diarrhea, Dyspne... ORPHA:93552
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer, Ataxia ORPHA:3350
Cog8-Cdg
Spontaneous hematomas, Ataxia, Protein-losing enteropathy, Progressive microcephaly ORPHA:95428
Mpi-Cdg
Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased liver func... ORPHA:79319
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Duodenal ulcer, Gastritis, Bronchitis, Pneumonia, Anorexia, Abdominal pain, Diar... OMIM:619381
Carnitine Palmitoyltransferase Ii Deficiency
Polymicrogyria, Hydrocephalus, Pachygyria, Abnormality of neuronal migration ORPHA:157
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Death in infancy, Abdominal distention, Pulmonary lymphangiectasia, Cleft palate, High palate, Pr... OMIM:235255
Cirrhosis, Familial
Abdominal distention, Jaundice, Fulminant hepatitis, Esophageal varix, Pulmonary arterial hyperte... OMIM:215600
Duodenal Atresia
Duodenal atresia OMIM:223400
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Microcephaly, Feeding difficulties, Posterior pituitary hypoplasia, Gastroesophageal reflux, Vomi... ORPHA:464311
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Miscarriage, Microcephaly, Pulmonary artery stenosis, Feeding difficulties, Spinal dysraphism, Ma... ORPHA:96334
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Macroglossia, Respiratory failure, Feeding difficulties ORPHA:254528
Refractory Celiac Disease
Villous atrophy, Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Protein-losing en... ORPHA:398063
Microvillus Inclusion Disease
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea ORPHA:2290
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Polymicrogyria, Hypothalamic hamartoma OMIM:619775
Peritoneal Cystic Mesothelioma
Abdominal distention, Peritonitis, Constipation, Abdominal pain ORPHA:168816
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Ileal atresia, Abdominal distention, Peritoni... OMIM:619351
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Ear-Patella-Short Stature Syndrome
Respiratory distress, Microcephaly, High, narrow palate, Dyspnea, Submucous cleft hard palate, Cl... ORPHA:2554
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus OMIM:219730
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Vici Syndrome
Gray matter heterotopia, Death in infancy ORPHA:1493
Immunodeficiency 31C
Recurrent respiratory infections, Villous atrophy, Diarrhea, Bronchiectasis, Gastrointestinal eos... OMIM:614162
Castleman Disease
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Abdominal... ORPHA:160
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Hydrocephalus, Lissencephaly OMIM:617822
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... OMIM:270420
Inflammatory Pseudotumor Of The Liver
Abdominal pain, Abdominal distention, Neoplasm of the liver, Vomiting, Nausea ORPHA:90003
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Zollinger-El... ORPHA:652
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... OMIM:610655
Platyspondylic Dysplasia, Torrance Type
Abdominal distention, Pulmonary hypoplasia, Cleft palate ORPHA:85166
Van Maldergem Syndrome 1
Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ... OMIM:601390
Feingold Syndrome
Esophageal atresia, Microcephaly, Duodenal atresia ORPHA:1305
Sarcoidosis, Susceptibility To, 1
Anorexia, Cough, Dyspnea, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary i... OMIM:181000
Necrotizing Enterocolitis
Apnea, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting ORPHA:391673
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Nausea and vomiting, Death in infancy, Intestinal malr... ORPHA:2241
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria OMIM:617397
Metachromatic Leukodystrophy
Ataxia, Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Feeding dif... ORPHA:512
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Emp... OMIM:242700
Thyroid Hypoplasia
Macroglossia, Jaundice, Constipation, Abdominal distention ORPHA:95720
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Abdominal pain, Gastrointestinal inflamma... ORPHA:48435
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Hydrocephalus ORPHA:1860
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Neonatal death, Frontal polymicrogyria, Pachygyria, Gray matter heterotopia OMIM:620024
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Polymicrogyria, Hydrocephalus, Pachygyria, Abnormality of neuronal migration ORPHA:228308
Common Variable Immunodeficiency
Recurrent respiratory infections, Pneumonia, Recurrent bronchitis, Gastrointestinal stroma tumor,... ORPHA:1572
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Periventricular heterotopia OMIM:619833
Lysosomal Acid Lipase Deficiency
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Jaundi... ORPHA:275761
Coffin-Siris Syndrome 1
Recurrent respiratory infections, Cutis marmorata, Intestinal malrotation, Duodenal ulcer, Microc... OMIM:135900
Lymphatic Malformation 7
Respiratory distress, Abdominal distention, Chylothorax, Pleural effusion, Pulmonary edema OMIM:617300
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Man1B1-Cdg
Periventricular heterotopia ORPHA:397941
Metachromatic Leukodystrophy, Late Infantile Form
Feeding difficulties in infancy, Abdominal distention, Gait ataxia, Progressive gait ataxia, Punc... ORPHA:309256
Coffin-Lowry Syndrome
Death in early adulthood, Abnormality of neuronal migration ORPHA:192
Peripheral Primitive Neuroectodermal Tumor
Nausea and vomiting, Somatic sensory dysfunction, Anorexia, Abdominal distention, Jaundice, Episo... ORPHA:370348
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... ORPHA:2929
Radio-Tartaglia Syndrome
Gray matter heterotopia OMIM:619312
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion, Periventricular heterotopia OMIM:618929
Combined Immunodeficiency-Enteropathy Spectrum
Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Gastrointestinal atresia, B... ORPHA:436252
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia OMIM:614105
16P13.11 Microdeletion Syndrome
Holoprosencephaly, Abnormality of neuronal migration ORPHA:261236
Distal Deletion 12Q
Microcephaly, Impaired pain sensation, High, narrow palate, Esophageal atresia, Pyloric stenosis,... ORPHA:96149
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Abdominal pain, High, narrow palate, Rectal prolapse, Adenomatous co... ORPHA:79076
Holoprosencephaly 14
Periventricular heterotopia, Aqueductal stenosis, Alobar holoprosencephaly, Hydrocephalus, Gray m... OMIM:619895
Aortic Arch Interruption
Respiratory distress, Cyanosis, Feeding difficulties in infancy, Tachypnea, Aortopulmonary window... ORPHA:2299
Hereditary Fructose Intolerance
Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Constipation, Vomiting, Chronic hepatic... ORPHA:469
Cardiac Valvular Dysplasia 2
Central cyanosis, Pulmonary artery dilatation OMIM:620067
Schimke Immuno-Osseous Dysplasia
Abdominal distention, Abnormal intestine morphology, Pulmonary arterial hypertension, Ischemic st... ORPHA:1830
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:99125
Metachromatic Leukodystrophy, Adult Form
Bowel incontinence, Abdominal distention, Chorea, Progressive gait ataxia, Neoplasm of the gallbl... ORPHA:309271
Myhre Syndrome
Ataxia, Microcephaly, Respiratory insufficiency, Cleft palate, Respiratory failure OMIM:139210
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus, Abnormality of neuronal migration ORPHA:1454
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting ORPHA:35710
Menke-Hennekam Syndrome 2
Chronic constipation, Recurrent upper respiratory tract infections, Duodenal ulcer OMIM:618333
Feingold Syndrome Type 1
Jejunal atresia, Microcephaly, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duoden... ORPHA:391641
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Abdominal distention, Wh... ORPHA:97214
Truncus Arteriosus
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... ORPHA:3384
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Diarrhea 10, Protein-Losing Enteropathy Type
Death in infancy, Recurrent upper respiratory tract infections, Secretory diarrhea, Feeding diffi... OMIM:618183
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Duodenal atresia ORPHA:3004
Double Outlet Left Ventricle
Pulmonary artery stenosis, Cyanosis, Tachypnea ORPHA:3427
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... ORPHA:220460
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abdominal distention, Pulmonary lymphangiectasia, High palate, Protein-losing enteropathy, Hepati... ORPHA:1655
Holoprosencephaly
Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Spinal dysraphism, Holoprosencep... ORPHA:2162
Pagod Syndrome
Encephalocele, Death in infancy, Spina bifida, Meningocele, Abnormality of neuronal migration ORPHA:991
Mowat-Wilson Syndrome
Aganglionic megacolon, Pulmonary artery sling, Microcephaly, Aplasia/Hypoplasia of the cerebral w... OMIM:235730
Gonadoblastoma
Abdominal distention, Abdominal pain ORPHA:206484
Primary Biliary Cholangitis
Celiac disease, Abdominal distention, Jaundice, Gastrointestinal inflammation, Dermatographic urt... ORPHA:186
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration ORPHA:163681
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Abdominal distention, Microcolon OMIM:619362
Acromelic Frontonasal Dysostosis
Encephalocele, Gray matter heterotopia, Hypopituitarism, Periventricular nodular heterotopia OMIM:603671
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Feingold Syndrome 1
Jejunal atresia, Microcephaly, Esophageal atresia, Gastrointestinal atresia, Tracheoesophageal fi... OMIM:164280
Cutis Laxa, Autosomal Dominant 1
Prematurely aged appearance, Progeroid facial appearance, Poor wound healing, Dyspnea, Bronchiect... OMIM:123700
Mirizzi Syndrome
Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, Nausea ORPHA:521219
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Gallbladder Neuroendocrine Tumor
Anorexia, Biliary tract neoplasm, Abdominal distention, Episodic abdominal pain, Intermittent jau... ORPHA:100086
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration, Hypothalamic hamartoma ORPHA:2754
Bilateral Perisylvian Polymicrogyria
Ectopic posterior pituitary, Perisylvian predominant thick cortex pachygyria, Abnormality of neur... ORPHA:98889
Hereditary Spherocytosis
Abdominal distention, Jaundice, Ataxia, Abdominal pain ORPHA:822
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Polymicrogyria, Death in childhood OMIM:214100
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia OMIM:618870
Metachromatic Leukodystrophy, Juvenile Form
Abdominal distention, Progressive gait ataxia, Punctate periventricular T2 hyperintense foci ORPHA:309263
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Periventricular heterotopia OMIM:618476
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Esophageal atresia, Abdominal distention, Respiratory insufficiency, Ectopic anus, Pulmonary hypo... ORPHA:93271
Aicardi-Goutières Syndrome
Cerebral calcification, Cutis marmorata, Microcephaly, Porencephalic cyst, Multifocal cerebral wh... ORPHA:51
Van Maldergem Syndrome 2
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia OMIM:615546
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Viss Syndrome
Chronic gastritis, Prominent superficial blood vessels, High, narrow palate, High palate, Gastroe... OMIM:619472
Aicardi Syndrome
Spina bifida, Dilated third ventricle, Gray matter heterotopia, Pachygyria, Polymicrogyria OMIM:304050
Heterotaxy, Visceral, 5, Autosomal
Bilateral trilobed lung, Intestinal malrotation, Partial anomalous pulmonary venous return, Cereb... OMIM:270100
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Hiatus hernia, Nausea, Rectal prolapse, Chronic ... ORPHA:287
Pancreatoblastoma
Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Vomiting ORPHA:677
Charge Syndrome
Anal stenosis, Decreased response to growth hormone stimulation test, Microcephaly, Esophageal at... OMIM:214800
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, High palate, Pulmonary a... ORPHA:740
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Kasabach-Merritt Syndrome
Respiratory distress, Abdominal pain, Abdominal distention, Hypopnea, Hepatic hemangioma, Petechi... ORPHA:2330
Wilson Disease
Acute hepatic failure, Hepatocellular carcinoma, Abdominal distention, Jaundice, Hypoesthesia, Es... OMIM:277900
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy, Abdominal distention, Jaundice, Hepatic failure OMIM:617156
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Anorexia, Or... ORPHA:95455
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Abdominal distention, Poor appetite, Malabsorption OMIM:227810
Familial Visceral Myopathy
Abdominal distention, Aganglionic megacolon, Cleft palate, Microcephaly ORPHA:2604
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Aganglionic megacolon, Abdominal distention, Abnormal tongue... ORPHA:653
Bohring-Opitz Syndrome
Gray matter heterotopia OMIM:605039
Orofaciodigital Syndrome I
Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Hypothalami... OMIM:311200
Otopalatodigital Syndrome, Type Ii
Spina bifida, Hydrocephalus, Respiratory insufficiency, Cleft palate, Respiratory failure, Stillb... OMIM:304120
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abdominal distention, Congenital pyloric atresia, Skin fragility with non-scarring blistering, Vo... ORPHA:158684
6Q Terminal Deletion Syndrome
Gray matter heterotopia, Polymicrogyria, Abnormality of neuronal migration, Periventricular heter... ORPHA:75857
Diets-Jongmans Syndrome
Feeding difficulties in infancy, Thick corpus callosum, Duodenal atresia OMIM:618846
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Microcephaly, Dyspnea, Submucous cleft hard palate, Cleft palate, Respiratory failure, Bifid uvula ORPHA:2636
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Colitis, Steatorrhea, Exocrine pancreatic insuffi... ORPHA:309031
Hypermobile Ehlers-Danlos Syndrome
Nausea and vomiting, Apnea, Malabsorption, Gastrointestinal dysmotility, Anorectal anomaly, Gastr... ORPHA:285
Polyembryoma
Abdominal distention, Abdominal pain ORPHA:180229
Donohue Syndrome
Abdominal distention OMIM:246200
Familial Adenomatous Polyposis
Cholangiocarcinoma, Duodenal polyposis, Stomach cancer, Pituitary adenoma, Adenomatous colonic po... ORPHA:733
Currarino Syndrome
Anal stenosis, Perianal abscess, Gastrointestinal obstruction, Abdominal distention, Chronic cons... OMIM:176450
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Hiatus hernia, Dysesthesia, Pneumothorax, Cleft palate, High palate, Cons... OMIM:601776
Townes-Brocks Syndrome 1
Anal stenosis, Rectoperineal fistula, Microcephaly, Hydrocephalus, Tracheoesophageal fistula, Gas... OMIM:107480
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Intestinal bleeding, High pala... ORPHA:261584
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly, Gray matter het... OMIM:615287
Fanconi-Bickel Syndrome
Abdominal distention, Hepatic failure, Hepatocellular carcinoma ORPHA:2088
Biliary, Renal, Neurologic, And Skeletal Syndrome
Pulmonary artery dilatation, Recurrent respiratory infections, Anterior pituitary hypoplasia, Aqu... OMIM:619534
Gardner Syndrome
Duodenal polyposis, Ampulla of Vater carcinoma, Adenomatous colonic polyposis, Esophageal carcino... ORPHA:79665
Koolen-De Vries Syndrome
Gray matter heterotopia OMIM:610443
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention, Upper airway obstruction ORPHA:93352
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Secretory diarrhea, Elevated stool chloride content OMIM:214700
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Hydrocephalus OMIM:305450
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in infancy, Abnormal cortical gyration, Hydrocephalus, Microlissencephaly, Gray matter hete... OMIM:210710
Liver Disease, Severe Congenital
Chronic gastritis, Pneumonia, Abdominal distention, Jaundice, Malnutrition, Dependency on parente... OMIM:619991
Ulbright-Hodes Syndrome
Respiratory distress, Pneumothorax, Respiratory failure, High palate, Pulmonary hypoplasia ORPHA:3404
Junctional Epidermolysis Bullosa With Pyloric Atresia
Nausea and vomiting, Abdominal distention, Congenital pyloric atresia, Intestinal atresia ORPHA:79403
Cerebrofacioarticular Syndrome
Gray matter heterotopia ORPHA:314679
Thyroid Ectopia
Macroglossia, Jaundice, Constipation, Abdominal distention ORPHA:95712
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cerebral calcification, Cyanosis, Feeding difficulties, Encephalomalacia, V... ORPHA:51608
Apc-Related Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Adenomatous colonic polyposis, Esophageal carcinoma, Multiple gastric polyps,... ORPHA:247806
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Abnormality of neuronal migration ORPHA:3186
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:618918
Fraser Syndrome 1
Encephalocele, Abnormal small intestine morphology, Abnormal cortical gyration, Microcephaly, Mye... OMIM:219000
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia ORPHA:261250
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Familial Adenomatous Polyposis 4
Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma OMIM:617100
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Abdominal distention, Pulmonary hypoplasia, Anal atresia OMIM:271520
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia ORPHA:453499
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Stillbirth, Severe hydrocephalus OMIM:236680
Familial Adenomatous Polyposis 1
Duodenal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Desmoid tumors, Small... OMIM:175100
Cardiac Valvular Dysplasia 1
Pulmonary artery atresia, Cyanosis OMIM:212093
Hypoplasminogenemia
Hydrocephalus, Duodenal ulcer ORPHA:722
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention OMIM:602557
Fontaine Progeroid Syndrome
Death in infancy, Periventricular heterotopia, Hydrocephalus, Gray matter heterotopia, Neonatal d... OMIM:612289
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Polymicrogyria, Holoprosencephaly OMIM:618820
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia OMIM:618733
Coffin-Lowry Syndrome
Cutis marmorata, Microcephaly, Rectal prolapse, Narrow palate, High palate, Acrocyanosis OMIM:303600
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Hypothyroidism, Congenital, Nongoitrous, 2
Feeding difficulties in infancy, Abdominal distention, Stridor, Macroglossia, Constipation OMIM:218700
Arima Syndrome
Gray matter heterotopia, Occipital meningocele OMIM:243910
Vici Syndrome
Gray matter heterotopia OMIM:242840
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia OMIM:276300
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata ORPHA:416
Spondyloocular Syndrome
Duodenal ulcer OMIM:605822
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Cyanosis ORPHA:216694
Leprechaunism
Reduced subcutaneous adipose tissue, Microcephaly, Abdominal distention, Rectal prolapse, Megarectum ORPHA:508
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gray matter heterotopia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gray matter heterotopia ORPHA:352665
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Periventricular heterotopia, Simplified gyral pattern, Holoprosencephaly... OMIM:615948
Orofaciodigital Syndrome Type 14
Dilated third ventricle, Periventricular heterotopia ORPHA:434179
Proteus Syndrome
Gray matter heterotopia ORPHA:744
Atresia Of Urethra
Abdominal distention ORPHA:105
Pyknoachondrogenesis
Abdominal distention ORPHA:3003
Genitopatellar Syndrome
Pachygyria, Periventricular heterotopia OMIM:606170
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Polymicrogyria, Periventricular heterotopia ORPHA:261537
Mowat-Wilson Syndrome
Polymicrogyria, Periventricular heterotopia ORPHA:2152

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 Celsr3

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 Celsr3.

No publications found that use IMPC mice or data for Celsr3.

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MGI Allele Allele Type Produced
Celsr3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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