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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
Atelectasis, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Recurrent respirator... OMIM:619466
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:615411
Lissencephaly 1
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:607432
Lissencephaly, X-Linked, 1
Death in infancy, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly OMIM:300067
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Fusion of the left and right thalami, Hydrocephalus, Agen... OMIM:617542
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Microlissencephaly
Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Lissencephaly, ... ORPHA:1083
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... ORPHA:2302
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Death in infancy, Cerebral dysmyelination, Hyperintensity of cerebral ... OMIM:611722
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... ORPHA:79126
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Neonatal respiratory distress, Elevated bronchoalveolar lavage fluid neutrophil proportion, Atele... OMIM:610978
Pontocerebellar Hypoplasia, Type 1C
Cerebral cortical atrophy, Respiratory insufficiency, Death in childhood, Hypoplasia of the corpu... OMIM:616081
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Aplasia/Hypoplasia of the pyramidal tract, Abnormal cortical gyration, Polymicrogyria, Neonatal d... OMIM:619602
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Lissencephaly 3
Polymicrogyria, Periventricular laminar heterotopia, Pachygyria, Agyria, Gray matter heterotopia,... OMIM:611603
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Cerebral atrophy, Nasogastric tube feeding, Aspiration pneumonia, ... OMIM:619057
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria ORPHA:101029
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:253300
Gerstmann-Straussler-Scheinker Syndrome
Acroparesthesia, Paresthesia, Gait ataxia, Abnormal pyramidal tract morphology, Dysesthesia ORPHA:356
Huntington Disease-Like 3
Chorea, Caudate atrophy, Frontal cortical atrophy, Abnormal pyramidal tract morphology, Ataxia, B... OMIM:604802
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Dysgenesis of the basal gangl... OMIM:600638
Familial Congenital Mirror Movements
Abnormal corticospinal tract morphology, Agenesis of corpus callosum ORPHA:238722
Immunodeficiency 95
Recurrent viral pneumonia, Ground-glass opacification, Recurrent viral upper respiratory tract in... OMIM:619773
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Abnormal ... ORPHA:2357
Bronchopulmonary Dysplasia
Atelectasis, Emphysema, Hyperoxemia, Abnormal lung morphology, Pulmonary sequestration, Respirato... ORPHA:70589
Spinocerebellar Ataxia 13
Limb ataxia, Gait ataxia, Limb dysmetria, Abnormal pyramidal tract morphology, Impaired distal vi... OMIM:605259
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Aspiration pneumonia, Distal sensory impairment, Nasogastric tube fe... ORPHA:90117
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hydrocephalus, Polymicrogyria OMIM:604213
Dystonia 9
Paresthesia, Abnormal pyramidal tract morphology, Choreoathetosis, Episodic ataxia OMIM:601042
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Hypoxemia, Respir... ORPHA:70587
Aicardi-Goutieres Syndrome 1
Leukoencephalopathy, Erythema, Cerebral atrophy, Intracerebral periventricular calcifications, Ba... OMIM:225750
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Cerebral atrophy, Gastrointestinal dysmotility, Ataxia, Dysphagia, Respiratory failure OMIM:618637
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Type II lissencephaly, Dysgyria, Hydrocephalus, Gray matter heterotopia ORPHA:352682
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal thalamus morphology, Lateral ventricle dilatation, Polymicrogyria, Type II lissencephaly... ORPHA:300570
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Cerebral atrophy, Neonatal death, Microcephaly, Respirato... OMIM:611890
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Hydrocephalus OMIM:618709
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Generalized abnormality of skin, Hypereosinophilia, Parenchymal consolidation, Pleur... ORPHA:2902
Spinocerebellar Ataxia 10
Limb ataxia, Gait ataxia, Dysmetria, Distal sensory impairment, Abnormal pyramidal tract morpholo... OMIM:603516
Spastic Paraplegia 11, Autosomal Recessive
Cerebral cortical atrophy, Impaired vibration sensation in the lower limbs, Abnormal periventricu... OMIM:604360
Meconium Aspiration Syndrome
Neonatal asphyxia, Atelectasis, Transient pulmonary infiltrates, Aspiration pneumonia, Pneumothor... ORPHA:70588
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Cyanosis, Agenesis of corpus callosum, Hydrocephalus, Spin... OMIM:207950
Parkinsonism-Dystonia 1, Infantile-Onset
Gastroesophageal reflux, Chorea, Constipation, Abnormal pyramidal tract morphology, Feeding diffi... OMIM:613135
Spastic Paralysis, Infantile-Onset Ascending
Abnormal corticospinal tract morphology, Dysphagia, Abnormal lower motor neuron morphology OMIM:607225
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Pachygyria, Thin corpus callosum, Dysphagia, Abnormality of the anterior commissure ORPHA:572013
Spinocerebellar Ataxia 8
Dysphagia, Abnormal pyramidal tract morphology, Progressive cerebellar ataxia OMIM:608768
Lissencephaly 9 With Complex Brainstem Malformation
Lissencephaly, Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Microcephaly, ... OMIM:618325
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Bullous Dystrophy, Hereditary Macular Type
Microcephaly, Acrocyanosis, Death in childhood OMIM:302000
Giant Axonal Neuropathy 1, Autosomal Recessive
Vomiting, Abnormal pyramidal tract morphology, Lateral ventricle dilatation, Distal sensory impai... OMIM:256850
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Microcephaly, Dysphagia, Respiratory failure, Feeding difficulties OMIM:225753
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar... OMIM:265120
Perching Syndrome
High palate, Dysphagia, Cyanosis, Feeding difficulties OMIM:617055
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:300717
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Gray matter heterotopia, Lissencep... OMIM:604317
L-2-Hydroxyglutaric Aciduria
Leukoencephalopathy, Corpus callosum atrophy, Abnormal pyramidal tract morphology, Ataxia OMIM:236792
Nemaline Myopathy 8
Dysphagia, Respiratory failure, Death in infancy, Gastrostomy tube feeding in infancy OMIM:615348
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Respiratory insufficiency, Esophagitis, ... ORPHA:3348
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Episodic ataxia, Basal ganglia cysts, Agenesis of corpus callosum, Microcephaly... OMIM:312170
C1Q Deficiency 2
Atelectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory tract infection... OMIM:620321
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Congenital Neuronal Ceroid Lipofuscinosis
Cerebral hypoplasia, Neonatal respiratory distress, Neuronal loss in the cerebral cortex, Agenesi... ORPHA:168486
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Atelectasis, Intestinal malrotation, Pulmonary situs ambiguus, Res... ORPHA:244
Neuropathy, Ataxia, And Retinitis Pigmentosa
Corticospinal tract atrophy, Ataxia OMIM:551500
Amyotrophic Lateral Sclerosis 8
Dysphagia, Abnormal pyramidal tract morphology, Amyotrophic lateral sclerosis OMIM:608627
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness, Recurre... ORPHA:2590
Adult Krabbe Disease
Abnormal corpus callosum morphology, Acroparesthesia, Somatic sensory dysfunction, Abnormal corti... ORPHA:206448
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Neonatal respiratory distress, Atelectasis OMIM:267450
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... OMIM:610913
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Gastroesophageal reflux, Groun... ORPHA:2032
Neuralgic Amyotrophy
Bifid uvula, Respiratory insufficiency, Paresthesia, Hypoesthesia, Acrocyanosis, Cleft palate ORPHA:2901
Recurrent Respiratory Papillomatosis
Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respiratory insuf... ORPHA:60032
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Cerebral cortical atrophy, Respiratory insufficiency, Abnormal ... ORPHA:370968
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Respiratory tr... OMIM:619445
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Congenital Myopathy 14
Nasogastric tube feeding, Death in infancy, Respiratory insufficiency due to muscle weakness, Hig... OMIM:618414
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Dysphagia, Respiratory failure, Respiratory insufficiency ORPHA:266
Dystonia 16
Dysphagia, Abnormal pyramidal tract morphology OMIM:612067
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Thin corpus callosum, Respiratory failure, Feeding difficulties, Poor suck OMIM:616277
Developmental And Epileptic Encephalopathy 71
Simplified gyral pattern, Respiratory failure, Respiratory insufficiency OMIM:618328
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Cerebral atrophy, Abnormal pyramidal tract morphology, Hypoplasia of the corpus callosum, Leukoen... ORPHA:83629
Amyotrophic Lateral Sclerosis 28
Dysphagia, Respiratory failure OMIM:620452
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Dysphagia, Atelectasis, Pulmonary fibrosis ORPHA:254361
Congenital Myopathy 10A, Severe Variant
Gastroesophageal reflux, Respiratory insufficiency, High palate, Dysphagia, Respiratory failure, ... OMIM:614399
Spastic Paraplegia 8, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs... OMIM:603563
Phosphoserine Aminotransferase Deficiency
Secondary microcephaly, Death in infancy, Cyanotic episode, Feeding difficulties OMIM:610992
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Cyanosis, Type II pneumocyte hypertrophy, Desquamat... OMIM:263000
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory insufficiency, Feeding difficulties in infancy, Respiratory insu... ORPHA:254875
Band Heterotopia
Gray matter heterotopia, Subcortical band heterotopia, Hydrocephalus, Polymicrogyria OMIM:600348
Ceroid Lipofuscinosis, Neuronal, 10
Cerebral atrophy, Respiratory insufficiency, Neonatal death, Microcephaly, Ataxia, Respiratory fa... OMIM:610127
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Dilated third ventricle, Lateral ventricle dilatation, Basal ganglia calcification, Cerebral calc... OMIM:620371
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Gastroesophageal reflux, Decreased liver function, Chorea, Focal T2 hyperintense basal ganglia le... ORPHA:70472
Dihydropyrimidinase Deficiency
Microcephaly, Abnormal cerebral white matter morphology, Abnormal pyramidal tract morphology, Ana... OMIM:222748
Basal Ganglia Disease, Biotin-Thiamine Responsive
Vomiting, Chorea, Abnormal basal ganglia morphology, Gait ataxia, Abnormal pyramidal tract morpho... OMIM:607483
Hydrocephalus, Congenital, X-Linked
Corticospinal tract hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum, Hydrocepha... OMIM:307000
Acalvaria
Abnormality of neuronal migration, Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Parkinson-Dementia Syndrome
Abnormal pyramidal tract morphology OMIM:260540
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Pontocerebellar Hypoplasia Type 1
Cerebral cortical atrophy, Feeding difficulties, Progressive microcephaly, Ataxia, Thin corpus ca... ORPHA:2254
Pneumocystosis
Respiratory insufficiency, Combined cystic and ground-glass pattern on pulmonary HRCT, Interstiti... ORPHA:723
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Waardenburg Syndrome Type 3
Microcephaly, Acrocyanosis, Atelectasis ORPHA:896
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Cerebral atrophy, Respiratory insufficiency, Focal T2 hyperintense... OMIM:245400
Classic Glucose Transporter Type 1 Deficiency Syndrome
Chorea, Cyanosis, Progressive microcephaly, Ataxia, Choreoathetosis ORPHA:71277
Myotubular Myopathy With Abnormal Genital Development
Atelectasis, Death in infancy, Neonatal death, High palate, Feeding difficulties OMIM:300219
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Abnormal cortical gyration, Neonatal respiratory distress, Dysphagia, Respiratory failure, Pulmon... OMIM:616867
Combined Oxidative Phosphorylation Deficiency 28
Abdominal pain, Respiratory failure, Poor appetite OMIM:616794
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Pseudobulbar paralysis, Degeneration of the lateral corticospinal ... OMIM:105400
Pyruvate Dehydrogenase E1-Beta Deficiency
Corticospinal tract hypoplasia, Periventricular cysts, Periventricular leukomalacia, Hypoplasia o... ORPHA:255138
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Nasogastric tube feeding, Hypoplasia of the corpus callosum, Gastro... ORPHA:284417
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Malabsorption, Abnormal small intestinal mucosa morphology, Nausea, Abdominal distentio... ORPHA:103907
Neurodegeneration With Brain Iron Accumulation 2A
Abnormal pyramidal tract morphology, Cerebral atrophy, Ataxia OMIM:256600
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Leukoencephalopathy, Intestinal bleeding, Oral leukoplakia, Premature graying of hair, Cerebral c... OMIM:612199
Alg1-Cdg
Protein-losing enteropathy, Decreased liver function, Cerebral atrophy, Abnormality of the gastro... ORPHA:79327
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Multiple Mitochondrial Dysfunctions Syndrome 3
Cerebral atrophy, Respiratory insufficiency, Polymicrogyria, Hypoplasia of the corpus callosum, M... OMIM:615330
Spastic Paraplegia 3, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs... OMIM:182600
Lethal Osteosclerotic Bone Dysplasia
Microcephaly, Median cleft palate, Respiratory failure ORPHA:1832
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Gastroesophageal reflux, Vomiting, Abnormal pulmonary interstitial morphology, Atelectasis, Groun... OMIM:620233
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:613869
Lissencephaly 5
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Subcortic... OMIM:615191
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Hepatic Veno-Occlusive Disease
Abdominal pain, Jaundice, Respiratory failure ORPHA:890
Short-Rib Thoracic Dysplasia 12
Lobulated tongue, Atelectasis, Respiratory insufficiency, Hamartoma of tongue, Intestinal malrota... OMIM:269860
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Hydrocephalus, Stillbirth, Aqueductal stenosis, Anal atresia, Respirat... OMIM:276950
Spastic Paraplegia 7, Autosomal Recessive
Cerebral cortical atrophy, Impaired vibration sensation in the lower limbs, Gait ataxia, Dysmetri... OMIM:607259
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ataxia, Intestinal pseudo-obstruction, Malnutrition, Malabsorption, Gastrointestinal dysmotility,... OMIM:613662
Hyperekplexia 4
High palate, Respiratory failure, Cerebral atrophy OMIM:618011
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Neurofibrillary tangles, Respiratory insufficiency, Death in child... OMIM:607625
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Dysphagia, Respiratory failure, Amyotrophic lateral sclerosis OMIM:613435
Subependymal Nodular Heterotopia
Occipital encephalocele, Polymicrogyria, Myelomeningocele, Abnormality of neuronal migration, Nas... ORPHA:101030
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Lateral ventricle dilatation, Cyanosis, Hypoplasia of the corpus callo... ORPHA:488627
Spastic Paraplegia 2, X-Linked
Degeneration of the lateral corticospinal tracts, Dysmetria OMIM:312920
Autosomal Dominant Spastic Paraplegia Type 73
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs ORPHA:444099
Spastic Paraplegia 6, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs OMIM:600363
Narp Syndrome
Ataxia, Cerebral cortical atrophy, Progressive gait ataxia, Corticospinal tract atrophy, Abnormal... ORPHA:644
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Hereditary Methemoglobinemia
Temporal cortical atrophy, Small basal ganglia, Cyanosis, Microcephaly, Frontal cortical atrophy,... ORPHA:621
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis ORPHA:922
Neuromyelitis Optica Spectrum Disorder
Nausea, Respiratory failure, Somatic sensory dysfunction ORPHA:71211
Avian Influenza
Pneumonia, Diarrhea, Vomiting, Ground-glass opacification, Pleural effusion, Pulmonary infiltrate... ORPHA:454836
Encephalopathy, Ethylmalonic
Focal T2 hyperintense basal ganglia lesion, Petechiae, Death in infancy, Ataxia, Chronic diarrhea... OMIM:602473
Autosomal Dominant Spastic Paraplegia Type 19
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs... ORPHA:100999
Mitochondrial Complex I Deficiency, Nuclear Type 10
Leukoencephalopathy, Dysmetria, Ataxia, Dysphagia, Respiratory failure, Feeding difficulties OMIM:618233
Immunodeficiency 54
Respiratory insufficiency, Adrenocorticotropic hormone excess, Microcephaly, Recurrent respirator... OMIM:609981
Staphylococcal Necrotizing Pneumonia
Pneumonia, Hypoxemia, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrates, Pneumot... ORPHA:36238
High Altitude Pulmonary Edema
Nausea and vomiting, Cyanosis, Pulmonary edema, Anorexia, Hypoxemia, Pulmonary opacity ORPHA:330012
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Autosomal Dominant Spastic Paraplegia Type 8
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs... ORPHA:100989
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebral cortical atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Respi... OMIM:618291
Frontotemporal Dementia With Motor Neuron Disease
Abnormal upper motor neuron morphology, Neuronal loss in the cerebral cortex, Degeneration of the... ORPHA:275872
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Diarrhea, Microcephaly, Respiratory insufficiency due to muscle weakness, Nausea, Dysphagia, Resp... ORPHA:352447
Allergic Bronchopulmonary Aspergillosis
Cerebral cortical atrophy, Abnormal eosinophil morphology, Respiratory insufficiency, Emphysema, ... ORPHA:1164
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Gastroesophageal reflux, Atelectasis, Respiratory insufficiency, Protruding tongue,... ORPHA:258
Neuropathy, Congenital Hypomyelinating, 3
Gastroesophageal reflux, Respiratory insufficiency, Hypoplasia of the corpus callosum, Neonatal d... OMIM:618186
Snakebite Envenomation
Erythema, Vomiting, Diarrhea, Neuromuscular dysphagia, Angioedema, Pseudobulbar paralysis, Hypopi... ORPHA:449285
Zygomycosis
Diarrhea, Pulmonary infiltrates, Ileitis, Colitis, Acute infectious pneumonia, Abdominal pain, Ai... ORPHA:73263
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Neonatal respiratory distress, Cyanosis, Microcephaly, Pneu... ORPHA:2257
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Neonatal respiratory distress, Recurrent sinusitis, Chronic bronchitis, Resp... OMIM:608647
Trehalase Deficiency
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain ORPHA:103909
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Microcephaly, Abnormal cerebral white matter morphology, Pachygyria, Macroglossia, Dysphagia, Res... OMIM:606612
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Respiratory insufficiency, Feeding difficul... ORPHA:2924
Scedosporiosis
Pneumonia, Abnormal jejunum morphology, Bronchitis, Apical pulmonary opacity, Pulmonary fibrosis,... ORPHA:449280
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Emphysema, Respiratory tract infection, Chronic bronchitis, Diffuse r... ORPHA:79127
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Vomiting, Diarrhea, Cerebral atrophy, Microcephaly, Jaundice, Respiratory failure, Feeding diffic... OMIM:250940
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Feeding difficulties in infancy, Respiratory failure, Abnormal basal ganglia MRI signal... ORPHA:444013
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Duodenal ... OMIM:243150
Severe Neurodegenerative Syndrome With Lipodystrophy
Cerebral atrophy, Gait ataxia, Reduced subcutaneous adipose tissue, Caudate atrophy, Ataxia, Resp... ORPHA:363400
Malignant Atrophic Papulosis
Pain insensitivity, Gastrointestinal hemorrhage, Intestinal fistula, Gastrointestinal infarctions... ORPHA:679
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Autosomal Dominant Spastic Paraplegia Type 38
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs... ORPHA:171617
Autosomal Dominant Spastic Paraplegia Type 42
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs ORPHA:171863
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation, Cerebral atrophy, Death in childhood, Microcephaly, Primary microce... OMIM:619847
Autosomal Dominant Spastic Paraplegia Type 37
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs ORPHA:171612
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Diarrhea, Atelectasis, Respiratory insufficiency, Death in childhood, Hypoplasia of the corpus ca... OMIM:618278
Spastic Paraplegia 4, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs OMIM:182601
Combined Oxidative Phosphorylation Deficiency 11
Cerebral cortical atrophy, Decreased liver function, Death in childhood, Death in infancy, Neonat... OMIM:614922
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass opacification, Nod... ORPHA:99931
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Parenchymal consolidation, Cyanosis, Pneumothorax, Anorexia, Hypoxemia ORPHA:1302
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Pulmonary infiltrates, Abnormal pulmonary interstitial mo... ORPHA:178320
Farber Disease
Recurrent upper respiratory tract infections, Hepatic failure, Atelectasis, Respiratory insuffici... ORPHA:333
Cutis Laxa, Autosomal Recessive, Type Ic
Pyloric stenosis, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Gastroesophageal ref... OMIM:613177
Congenital Myopathy 21 With Early Respiratory Failure
Lipoid pneumonia, Respiratory failure, Thin corpus callosum OMIM:620326
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Chorea, Dysmetria, Respiratory failure, Dysphagia, Dysdiadochokine... ORPHA:98755
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Basal ganglia calcification, Gait ataxia, Dysmetria, Distal sensory impairment, Ataxia, Narrow pa... OMIM:616505
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary infiltrates, Pulmonary edema, Abnormal blood gas level, Hypoxemia, Respirato... ORPHA:70578
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Cerebral atrophy, Abnormal basal ganglia morphology, Cyanosis, D... ORPHA:391428
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Leigh Syndrome, Nuclear
Respiratory insufficiency, Focal substantia nigra T2 hyperintensity, Respiratory failure, Ataxia OMIM:256000
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Atelectasis, Generalized abnormality of skin, Eosinophilia, Recurrent respiratory infections, Cle... ORPHA:2314
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Respiratory insufficiency, Type II lissencephaly, Agyria, Polymicrogyria, Encephalocele, Agenesis... OMIM:253800
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Recurrent bronchitis, Communicating hydrocephalus, Bronchiectasis OMIM:244400
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Neonatal respiratory distress, Diarrhea, Vomiting, Respiratory insufficiency, Poly... OMIM:608836
Small Bowel Atresia
Vomiting, Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia, Abdominal distention, F... ORPHA:1201
Lujo Hemorrhagic Fever
Vomiting, Diarrhea, Atelectasis, Ecchymosis, Purpura, Cerebral edema, Nausea, Abdominal cramps, F... ORPHA:319213
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Intestinal Dysmotility Syndrome
Decreased intestinal transit time, Diarrhea, Feeding difficulties, Abdominal distention, High pal... OMIM:620045
Congenital Pancreatic Cyst
Vomiting, Abdominal distention, Jaundice, Anorexia, Abdominal pain ORPHA:313906
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Dysphagia, Respiratory failure, Amyotrophic lateral scler... OMIM:613954
Intermediate Nemaline Myopathy
High, narrow palate, Dysphagia, Respiratory failure ORPHA:171433
Autosomal Dominant Spastic Paraplegia Type 12
Impaired vibration sensation in the lower limbs, Limb ataxia, Degeneration of the lateral cortico... ORPHA:100993
Riddle Syndrome
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Diarrhea, Erythema, Bronchitis, Recurrent sinu... ORPHA:420741
Congenital Sucrase-Isomaltase Deficiency
Vomiting, Diarrhea, Abdominal colic, Gastroesophageal reflux, Nausea, Constipation, Abdominal dis... ORPHA:35122
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Neonatal respiratory distress, Vomiting, Gastroesophageal reflux, Cerebral atrophy, Death in chil... OMIM:618426
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Laryngotracheoesophageal Cleft
Cyanosis, Recurrent respiratory infections, Neonatal respiratory distress, Impaired oropharyngeal... ORPHA:2004
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Petechiae, Vasculitis in ... OMIM:620296
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy, Anorexia OMIM:619386
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Neonatal respiratory distress, Cavum septum pellucidum, Chorea, Agenesis of ... ORPHA:209905
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Cerebral atrophy, Abnormal periventricular white matter morphology, Death in childhood, Ataxia, T... OMIM:615838
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis,... ORPHA:538
Polymicrogyria Due To Tubb2B Mutation
Polymicrogyria, Pachygyria, Gray matter heterotopia, Lissencephaly, Perisylvian polymicrogyria ORPHA:300573
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Intestinal mal... OMIM:615237
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Vomiting, Respiratory insufficiency, Death in infancy, Ataxia, Respiratory failure OMIM:614299
Congenital Pulmonary Lymphangiectasia
Gastroesophageal reflux, Pleural effusion, Cyanosis ORPHA:2414
Volvulus Of Midgut
Volvulus, Intestinal malrotation, Neonatal intestinal obstruction, Constipation, Abdominal disten... OMIM:193250
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Paroti... ORPHA:51636
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure, Feeding difficulties OMIM:618240
Lissencephaly 6 With Microcephaly
Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Pachygyria, Lissencephaly, Simpl... OMIM:616212
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Centrilobular ground-glass opacification on pulmonary HRCT, Interlob... ORPHA:199241
Central Hypoventilation Syndrome, Congenital, 3
Episodic vomiting, Feeding difficulties, Respiratory failure, Chronic constipation OMIM:619483
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cervical myelopathy, Leukoencephalopathy, Myelopathy, Death in childhood, Cerebral white matter a... OMIM:617186
Leigh Syndrome
Diffuse spongiform leukoencephalopathy, Hepatic failure, Abnormal basal ganglia MRI signal intens... ORPHA:506
Mercury Poisoning
Interstitial pneumonitis, Episodic abdominal pain, Abnormal cerebral white matter morphology, Epi... ORPHA:330021
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Esophagitis, Pancolitis, Duodenitis, Ileitis, Abnormal inte... OMIM:619079
Multiple Mitochondrial Dysfunctions Syndrome 1
Leukoencephalopathy, Respiratory insufficiency, Death in infancy, Neonatal death, Respiratory fai... OMIM:605711
Ethylmalonic Encephalopathy
Diarrhea, Petechiae, Ataxia, Acrocyanosis, Abnormal basal ganglia MRI signal intensity ORPHA:51188
Car T Cell Therapy-Associated Cytokine Release Syndrome
Vomiting, Diarrhea, Pleural effusion, Pulmonary edema, Nausea, Hypoxemia, Respiratory failure, Po... ORPHA:542323
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Recurrent respiratory... OMIM:610910
Pulmonary Alveolar Microlithiasis
Bronchitis, Interlobular septal thickening, Ground-glass opacification, Subpleural interstitial t... ORPHA:60025
Meckel Syndrome 14
Cardiorespiratory arrest, Occipital encephalocele, Cyanosis, Pneumothorax, Protuberant abdomen, A... OMIM:619879
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Gastroesophageal reflux, Hypoplasia of the corpus callosum, Neonatal death, Palmoplantar cutis la... OMIM:616482
Muscular Dystrophy, Congenital, With Or Without Seizures
Ataxia, Abdominal pain, Dysphagia, Respiratory failure, Feeding difficulties OMIM:620166
Adiposis Dolorosa
Painful subcutaneous lipomas, Constipation, Abdominal distention OMIM:103200
Mitochondrial Neurogastrointestinal Encephalomyopathy
Leukoencephalopathy, Diarrhea, Gastroesophageal reflux, Vomiting, Paresthesia, Nausea, Gastrointe... ORPHA:298
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ne... ORPHA:95430
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebral cortical atrophy, Recurrent pneumonia, Secondary microcephaly, Feeding difficulties, Chr... ORPHA:496641
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death OMIM:619334
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Hemimegalencephaly
Pachygyria, Gray matter heterotopia, Polymicrogyria ORPHA:99802
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypoplastic anterior commissure, Gastroesophageal reflux, Furrowed tongue, Hypoplasia of the corp... OMIM:616975
Wolman Disease
Acute hepatic failure, Vomiting, Death in infancy, Abdominal distention OMIM:620151
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Eosinophilic Granulomatosis With Polyangiitis
Gastroesophageal reflux, Respiratory insufficiency, Abnormal pleura morphology, Malabsorption, Na... ORPHA:183
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstru... ORPHA:343
3-Methylglutaconic Aciduria Type 7
Cerebral atrophy, Feeding difficulties, Abnormal basal ganglia morphology, Pneumothorax, Primary ... ORPHA:445038
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Hypoplasia of the corpus callosum, Microcephaly, Progressive microcephaly, Abnormal cerebral whit... OMIM:614407
Sarcoidosis, Susceptibility To, 2
Emphysema, Hypoxemia, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Abnormal pulmonary i... OMIM:612387
Congenital Myasthenic Syndrome
Gastroesophageal reflux, Nasal regurgitation, Intermittent episodes of respiratory insufficiency ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Gastroesophageal reflux, Nasal regurgitation, Intermittent episodes of respiratory insufficiency ... ORPHA:98914
Leber Congenital Amaurosis
Abnormality of neuronal migration, Encephalocele ORPHA:65
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Gastric varix, Panacinar emphysema, Bronchiectasis, Hepatocellular carcinoma OMIM:613490
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Gastroesophageal reflux, Gastroparesis, Recurrent infections due t... ORPHA:70
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory failure, Ataxia ORPHA:1861
Laryngeal Abductor Paralysis
Microcephaly, Dysphagia, Cyanosis OMIM:150260
Secondary Short Bowel Syndrome
Vomiting, Diarrhea, Volvulus, Malnutrition, Malabsorption, Villous atrophy, Abnormal small intest... ORPHA:95427
Autosomal Dominant Spastic Paraplegia Type 41
Degeneration of the lateral corticospinal tracts ORPHA:320355
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, High palate, Respiratory failure ORPHA:98913
Buerger Disease
Acrocyanosis, Paresthesia, Acroparesthesia, Livedo reticularis ORPHA:36258
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... OMIM:142623
Esophageal Atresia
Pyloric stenosis, Barrett esophagus, Gastroesophageal reflux, Vomiting, Bronchitis, Gastrointesti... ORPHA:1199
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Death in infancy, Microceph... ORPHA:1194
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Chylothorax, Nasogastric tube feeding, Death in childhood, Death in infancy, Gastrostomy tube fee... OMIM:620278
Combined Oxidative Phosphorylation Deficiency 53
Secondary microcephaly, Death in childhood, Death in infancy, Dysplastic corpus callosum, Abdomin... OMIM:619423
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Bruising susceptibility, Nausea and vomiting, Respiratory failure ORPHA:3226
Stromme Syndrome
Intestinal malrotation, Agenesis of corpus callosum, Jejunal atresia, Microcephaly, Hydrocephalus... OMIM:243605
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Bruising susceptibility, Atelectasis, Respiratory insufficiency, Hydrocephalus, High palate, Repe... ORPHA:536467
Fanconi Anemia, Complementation Group B
Abnormal lung lobation, Death in infancy, Hypoplasia of the corpus callosum, Tracheoesophageal fi... OMIM:300514
Breath-Holding Spells
Cyanosis OMIM:607578
Congenital Heart Block
Feeding difficulties in infancy, Pleural effusion, Cyanosis ORPHA:60041
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Polymicrogyria, Type II lissencephaly, Encephalocele, Death in infancy, Death in childhood, Hydro... OMIM:614643
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria ORPHA:2512
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Ventilator dependence with inability to wean, Constipation, Respiratory failure, Degeneration of ... OMIM:604320
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Boutonneuse Fever
Diarrhea, Petechiae, Nausea, Abdominal pain, Respiratory failure ORPHA:83313
Congenital Tracheal Stenosis
Neonatal asphyxia, Meckel diverticulum, Duodenal atresia, Abnormal lung lobation, Abnormal stomac... ORPHA:141127
Congenital Myopathy 10B, Mild Variant
Recurrent pneumonia, High palate, Dysphagia, Respiratory failure, Cleft palate OMIM:620249
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Bickerstaff Brainstem Encephalitis
Pneumonia, Sensory ataxia, Hypercapnia, Respiratory failure requiring assisted ventilation, Respi... ORPHA:79138
Infantile Krabbe Disease
Hyperesthesia, Vomiting, Gastroesophageal reflux, Abnormal periventricular white matter morpholog... ORPHA:206436
Fryns Syndrome
Cerebral cortical atrophy, Gastroesophageal reflux, Intestinal malrotation, Agenesis of corpus ca... ORPHA:2059
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Respiratory tract infection, Feeding difficulties in infancy, Respirat... ORPHA:308552
Restrictive Dermopathy 2
Cyanosis, Gastroesophageal reflux, Rectal prolapse, Feeding difficulties OMIM:619793
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Periventricular heterotopia, Simplified gyral pattern OMIM:616171
Microform Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Microcephaly, Holoprosencephaly, Duodenal atresi... ORPHA:280200
Tetrasomy 5P
Cyanosis, Pericallosal lipoma, Hydrocephalus, High palate, Recurrent respiratory infections, Pulm... ORPHA:3309
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Ataxia, Leukoencephalopathy, Decreased liver function, Death in childhood, Respiratory insufficie... OMIM:220110
Combined Oxidative Phosphorylation Deficiency 4
Microcephaly, Respiratory failure, Death in infancy, Polymicrogyria OMIM:610678
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Erythema, Pulmonary cyst, Diarrhea, Eosinophilic infiltration of the esophagus, Ab... OMIM:147060
Glycogen Storage Disease Due To Acid Maltase Deficiency
Atelectasis, Respiratory insufficiency, Respiratory tract infection, Feeding difficulties in infa... ORPHA:365
Primary Effusion Lymphoma
Abdominal pain, Pleural effusion, Abdominal distention ORPHA:48686
Pelizaeus-Merzbacher Disease, Connatal Form
Nasogastric tube feeding, Confluent hyperintensity of cerebral white matter on MRI, Ataxia, Pachy... ORPHA:280210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Laryngotracheal Angioma
Vomiting, Cyanosis, Feeding difficulties ORPHA:137935
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Vomiting, Diarrhea, Abdominal colic, Villous atrophy OMIM:615863
Ullrich Congenital Muscular Dystrophy
Respiratory failure ORPHA:75840
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Recurrent respiratory infections, Respiratory failure, Aplasia/Hypoplasia of the tongue ORPHA:2759
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy, Microcephaly, Partial anomalous pulmonary venous return, Partial agen... OMIM:617478
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Congenital Fibrinogen Deficiency
Bruising susceptibility, Volvulus, Subcutaneous hemorrhage, Cyanosis, Abdominal pain ORPHA:335
Necrotizing Enterocolitis
Diarrhea, Vomiting, Hypoactive bowel sounds, Cyanosis, Peritonitis, Abdominal rigidity, Abdominal... ORPHA:391673
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Vomiting, Diarrhea, Subcortical white matter calcifications, Diffuse cerebral atrophy, Respirator... ORPHA:3240
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Gastroesophageal reflux, Atelectasis, Abnormal lung lobation, Intest... ORPHA:567
Chronic Pneumonitis Of Infancy
Ground-glass opacification, Diffuse reticular or finely nodular infiltrations, Hypoxemia, Cyanosis ORPHA:91359
Sandestig-Stefanova Syndrome
High palate, Primary microcephaly, Respiratory failure, Hypoplasia of the corpus callosum OMIM:618804
Mitochondrial Complex I Deficiency, Nuclear Type 1
Leukoencephalopathy, Hepatic failure, Vomiting, Respiratory insufficiency, Focal T2 hyperintense ... OMIM:252010
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, High palate, Recurrent respiratory infections, Respiratory failure, Feeding difficulties ORPHA:98905
Hypophosphatasia
Emphysema, Feeding difficulties in infancy, Respiratory insufficiency ORPHA:436
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Intestinal pseudo-obstruction, Volvulus, Intestinal m... OMIM:619350
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Gastroesophageal reflux ORPHA:1949
Smith-Magenis Syndrome
Corticospinal tract hypoplasia, Gastroesophageal reflux, Impaired pain sensation, Aplasia/Hypopla... ORPHA:819
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Microlissencephaly, 4-layered lissencephaly ORPHA:89844
Vascular Hyalinosis
Hematochezia, Protein-losing enteropathy, Diarrhea, Premature graying of hair, Cerebral calcifica... OMIM:277175
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Diarrhea, Gastroesophageal reflux, Stercoral ulcer, Abnormal g... ORPHA:263665
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Nonarteriosclerotic cerebral calcification, Hepatic failure OMIM:210050
Hypoadrenocorticism, Familial
Feeding difficulties in infancy, Vomiting, Cyanosis OMIM:240200
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Achalasia ORPHA:2400
3-Methylglutaconic Aciduria, Type Viii
Cerebral atrophy, Secondary microcephaly, Death in infancy, Neonatal death, Respiratory arrest, H... OMIM:617248
Acquired Methemoglobinemia
Abdominal pain, Hypoxemia, Vomiting, Cyanosis ORPHA:464453
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Polymicrogyria, Cerebral calcification, Hypoplasia of the corpus callosum, Hydrocephalus, Agyria,... OMIM:616538
Myasthenic Syndrome, Congenital, 21, Presynaptic
Respiratory insufficiency, Cyanosis, Hyperintensity of cerebral white matter on MRI, Meconium ile... OMIM:617239
Severe Congenital Nemaline Myopathy
Dysphagia, Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota... OMIM:300048
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Gait ataxia, Cyanosis, Protruding tongue, Microcephaly, Ataxia, Thin corpus callosum, Choreoathet... OMIM:619580
Sepsis In Premature Infants
Vomiting, Diarrhea, Decreased liver function, Functional abnormality of the gastrointestinal trac... ORPHA:90051
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia OMIM:602088
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Facial erythema, Stomatitis OMIM:618307
Achondrogenesis, Type Ib
Abdominal distention, Stillbirth, Respiratory insufficiency OMIM:600972
Porphyria Due To Ala Dehydratase Deficiency
Diarrhea, Increased fecal coproporphyrin 3, Respiratory insufficiency, Nausea, Constipation, Epis... ORPHA:100924
Triosephosphate Isomerase Deficiency
Cerebral atrophy, Respiratory insufficiency, Death in infancy, Death in adolescence, Respiratory ... OMIM:615512
Double Outlet Right Ventricle
Intestinal malrotation, Feeding difficulties, Cyanosis, Submucous cleft hard palate, Pulmonary ar... ORPHA:3426
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Intraalveolar phospholipid accumulation, Cyanosis ORPHA:747
Spondylocostal Dysostosis 1, Autosomal Recessive
Death in infancy, Recurrent respiratory infections, Protuberant abdomen, Abdominal distention OMIM:277300
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration, Hydrocephalus, Holoprosencephaly, Encephalocele ORPHA:93274
Pulmonary Arteriovenous Malformation
Gastrointestinal infarctions, Pulmonary hemorrhage, Ischemic stroke, Hemothorax, Cyanosis, Telang... ORPHA:2038
Congenital Muscular Dystrophy With Cerebellar Involvement
Decreased thalamic volume, Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hydroc... ORPHA:370959
Congenital Tufting Enteropathy
Vomiting, Secretory diarrhea, Abnormal large intestinal mucosa morphology, Malabsorption, Villous... ORPHA:92050
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Periventricular heterotopia, Simplified gyral pattern OMIM:618273
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain, C... ORPHA:160148
Amyotrophic Lateral Sclerosis
Tongue atrophy, Xerostomia, Amyotrophic lateral sclerosis, Nausea and vomiting, Motor neuron atro... ORPHA:803
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test, Microcephaly, Abnormal periventricular whi... OMIM:617784
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Alobar holoprosencephaly, Gastroesophageal reflux, Median cleft pala... OMIM:301043
Poliomyelitis
Vomiting, Paresthesia, Paralytic ileus, Anorexia, Nausea, Dysphagia, Respiratory failure, Respira... ORPHA:2912
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia ORPHA:370980
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Vomiting, Diarrhea, Decreased liver function, Death in infancy, Neona... OMIM:608104
Mosaic Variegated Aneuploidy Syndrome 1
Cerebral hypoplasia, Agenesis of corpus callosum, Microcephaly, Feeding difficulties in infancy, ... OMIM:257300
Bloom Syndrome
Pneumonia, Gastroesophageal reflux, Bronchitis, Neoplasm of the colon, Stomach cancer, Respirator... ORPHA:125
Histiocytoid Cardiomyopathy
Vomiting, Cyanosis, Agenesis of corpus callosum, Pulmonary edema, Hydrocephalus, Cleft palate ORPHA:137675
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hydrocephalus ORPHA:1895
Athyreosis
Macroglossia, Constipation, Feeding difficulties, Abdominal distention ORPHA:95713
Abetalipoproteinemia
Ataxia, Impaired vibratory sensation, Vomiting, Positive Romberg sign, Gait ataxia, Dysmetria, Im... ORPHA:14
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Interstitial emphysema, Polymicrogyria, Dysmetria, Absent uv... OMIM:619708
Niemann-Pick Disease Type C
Hepatic failure, Cerebral atrophy, Aspiration pneumonia, Respiratory insufficiency, Chorea, Hypop... ORPHA:646
Multiple Acyl-Coa Dehydrogenase Deficiency
Vomiting, Cardiorespiratory arrest, Decreased liver function, Reye syndrome-like episodes, Dyspha... ORPHA:26791
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Multiple Mitochondrial Dysfunctions Syndrome 7
Decreased liver function, Secondary microcephaly, Respiratory failure requiring assisted ventilat... OMIM:620423
Glutathionuria
Gray matter heterotopia OMIM:231950
Rajab Interstitial Lung Disease With Brain Calcifications 1
Gastroesophageal reflux, Vomiting, Decreased liver function, Respiratory insufficiency, Emphysema... OMIM:613658
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Pulmonary hypoplasia OMIM:617895
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Respiratory ins... OMIM:615067
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Folinic Acid-Responsive Seizures
Chorea, Frontotemporal cerebral atrophy, Abdominal distention, Ataxia ORPHA:79097
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Atelectasis, Pleural effusion, Rectal abscess, Air bronchogram OMIM:306400
Fibrodysplasia Ossificans Progressiva
Basal ganglia calcification, Respiratory failure, Respiratory insufficiency OMIM:135100
Hypocomplementemic Urticarial Vasculitis
Diarrhea, Angioedema, Emphysema, Nausea and vomiting, Pleural effusion, Ataxia, Abdominal pain ORPHA:36412
Inflammatory Pseudotumor Of The Liver
Vomiting, Nausea, Neoplasm of the liver, Abdominal distention, Abdominal pain ORPHA:90003
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoplasia of the corpus callosum, Hyperintensity of cerebral white matter on MRI, Microcephaly, ... ORPHA:88618
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Orbital encephalocele OMIM:164180
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:617201
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebral hypoplasia, Duodenal atresia, Cerebral atrophy, Polymicrogyria, Abnormal periventricular... ORPHA:468631
Zollinger-Ellison Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diarrhea, Pituitary adenoma, Peptic ulcer, Pituitary p... ORPHA:913
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology, Paresthesia, Acrocyanosis ORPHA:3165
Joubert Syndrome 21
Occipital encephalocele, Encephalocele, Hypoplasia of the corpus callosum, Ataxia, Dysphagia, Res... OMIM:615636
Congenital Tricuspid Valve Dysplasia
Cyanosis, Respiratory failure, Hypoxemia, Anomalous pulmonary venous return, Respiratory failure ... ORPHA:555874
Dravet Syndrome
Progressive gait ataxia, Cyanotic episode ORPHA:33069
Osteopetrosis, Autosomal Recessive 5
Diffuse white matter abnormalities, Hepatic failure, Cerebral atrophy, Microcephaly, Hydrocephalu... OMIM:259720
Oculocerebrofacial Syndrome, Kaufman Type
High, narrow palate, Microcephaly, Respiratory failure, Feeding difficulties ORPHA:2707
Oculocerebrorenal Syndrome Of Lowe
Narrow palate, Gastroesophageal reflux, Atelectasis, Respiratory insufficiency, Malabsorption, De... ORPHA:534
Jacobsen Syndrome
Cerebral atrophy, Intestinal malrotation, Death in infancy, Agenesis of corpus callosum, Feeding ... ORPHA:2308
Neurocutaneous Melanocytosis
Abnormality of neuronal migration, Meningocele, Death in infancy ORPHA:2481
Joubert Syndrome 30
Gray matter heterotopia, Polymicrogyria OMIM:617622
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Intercostal muscle weakness, Distal sensory impairment OMIM:606071
Arterial Tortuosity Syndrome
Cardiorespiratory arrest, Gastroesophageal reflux, Esophagitis, Median cleft palate, Hiatus herni... ORPHA:3342
Alpha-Heavy Chain Disease
Abdominal pain, Malabsorption, Abnormal small intestine morphology ORPHA:100025
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Feeding difficulties in infancy,... ORPHA:500150
Ethylene Glycol Poisoning
Vomiting, Cyanosis, Pulmonary edema, Gastritis, Cerebral edema, Ataxia, Nausea ORPHA:31826
Nijmegen Breakage Syndrome
Recurrent pneumonia, Anal stenosis, Anorectal anomaly, Microcephaly, Anal atresia, Recurrent sino... ORPHA:647
Mitchell-Riley Syndrome
Diarrhea, Meckel diverticulum, Anteriorly placed anus, Intestinal malrotation, Malabsorption, Jej... OMIM:615710
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Adrenomyeloneuropathy
Distal sensory impairment, Cerebral dysmyelination, Adrenocorticotropic hormone excess, Dysesthes... ORPHA:139399
Meckel Syndrome, Type 8
Occipital encephalocele, Encephalocele, Microcephaly, Abdominal distention, Cleft palate OMIM:613885
Choanal Atresia
Recurrent respiratory infections, Cyanosis, Feeding difficulties ORPHA:137914
Glycine Encephalopathy With Normal Serum Glycine
Microcephaly, Dysphagia, Respiratory failure, Hypoplasia of the corpus callosum OMIM:617301
Eosinophilic Gastroenteritis
Hematochezia, Protein-losing enteropathy, Diarrhea, Vomiting, Malabsorption, Eosinophilia, Abnorm... ORPHA:2070
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hypoplastic anterior commissure, Lateral ventricle dilatation, Secondary microcephaly, Hypoplasia... ORPHA:261552
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Aspiration pneumonia, High palate, Intercostal muscle weakness, Respiratory insuffic... ORPHA:2020
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Carnitine-Acylcarnitine Translocase Deficiency
Microcephaly, Hepatic failure, Cyanosis, Respiratory insufficiency ORPHA:159
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Hydrocephalus, Pac... ORPHA:899
Chand Syndrome
Bifid tongue, Cleft palate, Atelectasis, Ataxia ORPHA:1401
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Cerebral white matter atrophy, Recurrent respiratory infections, Hypoperistalsis, Abdominal diste... OMIM:619365
Listeriosis
Pneumonia, Diarrhea, Vomiting, Somatic sensory dysfunction, Nausea, Peritonitis, Jaundice, Ataxia... ORPHA:533
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Peroxisome Biogenesis Disorder 4A (Zellweger)
Feeding difficulties in infancy, Respiratory failure, Death in infancy OMIM:614862
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Mhc Class I Deficiency 1
Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis OMIM:604571
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Bronchitis, Emphysema, Jaundice, Bronchiectasis, Hepatocellular carcinoma ORPHA:60
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Protein-losing enteropathy, Diarrhea, Xerostomia, Vomiting, Gastrointestinal carcin... OMIM:175500
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Cyanosis, Cerebral atrophy OMIM:261680
Combined Oxidative Phosphorylation Deficiency 3
Respiratory insufficiency, Death in childhood, Death in infancy, Feeding difficulties in infancy,... OMIM:610505
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal gastric mucosa morphology, ... ORPHA:1876
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Microcephaly, Acrocyanosis ORPHA:1867
Relapsing Polychondritis
Erythema, Anteriorly placed anus, Atelectasis, Recurrent aphthous stomatitis, Purpura ORPHA:728
Anterior Cutaneous Nerve Entrapment Syndrome
Hyperesthesia, Somatic sensory dysfunction, Anorexia, Recurrent infection of the gastrointestinal... ORPHA:51890
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory failure, Feeding difficulties, Respiratory insufficiency OMIM:613845
Fryns Syndrome
Chylothorax, Meckel diverticulum, Intestinal malrotation, Agenesis of corpus callosum, Aganglioni... OMIM:229850
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Microcephaly, High palate, Cyanosis ORPHA:3304
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Visceral Myopathy 1
Microcolon, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... OMIM:155310
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure OMIM:603689
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Chylomicron Retention Disease
Diarrhea, Vomiting, Abdominal distention, Steatorrhea, Fat malabsorption, Impaired proprioception ORPHA:71
Wolman Disease
Hepatic failure, Malnutrition, Nausea and vomiting, Abdominal distention, Steatorrhea, Esophageal... ORPHA:75233
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Recurrent upper respiratory tract infections, Cardiorespiratory arrest, Impaired pain sensation, ... ORPHA:293987
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Polymicrogyria, Encephalocele, Exencephaly, Abnormality of neuronal m... ORPHA:2211
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Diarrhea, Gastroesophageal reflux, Vomiting, Recurrent infections due to aspiration, Feeding diff... OMIM:223900
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Diarrhea, Protein-losing enteropathy, Abdominal distention ORPHA:103910
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Respiratory insufficiency, Secondary microcephaly, Respiratory failure,... OMIM:618329
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Cyanosis, Cleft palate, Midgut malrotation ORPHA:2326
Criss-Cross Heart
Cyanosis, Feeding difficulties, Respiratory insufficiency ORPHA:1461
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Familial Dysautonomia
Gastroesophageal reflux, Impaired pain sensation, Abnormal pleura morphology, Feeding difficultie... ORPHA:1764
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Hypoxemia, Anomalous pulmonary venous return ORPHA:860
Microphthalmia With Linear Skin Defects Syndrome
Erythema, Abnormal rectum morphology, Absent septum pellucidum, Agenesis of corpus callosum, Micr... ORPHA:2556
Primary Peritoneal Carcinoma
Nausea and vomiting, Peritonitis, Constipation, Abdominal distention, Abdominal pain ORPHA:168829
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Feeding difficulties, Respiratory insufficiency OMIM:609015
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Feeding difficulties in infancy, Constipation, Protuberant abdomen, Abdominal distention, Prolong... ORPHA:226313
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Neonatal respiratory distress, Pulmonary artery dilatation,... OMIM:265380
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Chronic hepatic failure, Feeding difficulties in infancy, Respiratory ... ORPHA:746
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Microcephaly, Gastrointestinal dysmotility, Hyperintensity of cerebral wh... OMIM:617798
Tarp Syndrome
Abnormal corpus callosum morphology, Cyanosis, Abnormal duodenum morphology, Glossoptosis, Tongue... ORPHA:2886
Poems Syndrome
Hyperesthesia, Increased circulating prolactin concentration, Paresthesia, Pleural effusion, Plet... ORPHA:2905
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Microcephaly, Cyanosis OMIM:250800
Desmoplastic Small Round Cell Tumor
Ileus, Nausea and vomiting, Abdominal distention, Abdominal pain, Neoplasm of the lung ORPHA:83469
Achondrogenesis Type 1A
Aplasia/Hypoplasia of the lungs, Abdominal distention ORPHA:93299
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Submucous cleft hard palate, Microcephaly, Tracheoesophageal fistula, Esophageal atresia, Spina b... OMIM:619227
Dysostosis Multiplex, Ain-Naz Type
Thin corpus callosum, Abdominal distention OMIM:619345
Thanatophoric Dysplasia, Type I
Gray matter heterotopia, Hydrocephalus, Neonatal death OMIM:187600
Miller-Dieker Lissencephaly Syndrome
Lissencephaly, Midline brain calcifications, Hypoplasia of the corpus callosum, Microcephaly, Cav... OMIM:247200
Glycogen Storage Disease Of Heart, Lethal Congenital
Pleural effusion, Cyanosis, Pulmonary edema, Hydrocephalus, Macroglossia, Feeding difficulties OMIM:261740
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Abdominal distention OMIM:174050
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Hydrocephalus, Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly, Simplified gy... OMIM:615219
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Duodenal Atresia
Duodenal atresia, Abnormality of the pulmonary artery ORPHA:1203
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Gastrointestinal hemorrhage, Spontaneous pneumothorax, Recurrent pneu... ORPHA:731
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Hepatic failure, Vomiting, Diarrhea, Villous atrophy, Death in childh... OMIM:602579
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Diarrhea, Vomiting, Pleural effusion, Petechiae, Ecchymosis, Pulmonary edema, Nausea, ... ORPHA:340
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Malabsorption, Chronic diarrhea, Steatorrhea, Duodenal ulcer, Cutaneous photosensitivity ORPHA:3217
Thanatophoric Dysplasia
Gray matter heterotopia, Hydrocephalus ORPHA:2655
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cerebral cortical atrophy, Lateral ventricle dilatation, Secondary microcephaly, Absent septum pe... OMIM:300868
Focal Dermal Hypoplasia
Erythema, Gastroesophageal reflux, Acute hepatic failure, Abnormality of the pulmonary vasculatur... ORPHA:2092
Pitt-Hopkins Syndrome
Small cerebral cortex, Gastroesophageal reflux, Aplasia/Hypoplasia of the corpus callosum, Esopha... ORPHA:2896
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebral cortical atrophy, Respiratory failure, Dysgyria OMIM:620327
Martinez-Frias Syndrome
Intestinal malrotation, Jejunal atresia, Tracheoesophageal fistula, Intestinal hypoplasia, Duoden... OMIM:601346
Desmosterolosis
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Hydrocephalus, Pac... ORPHA:35107
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Cyanosis OMIM:250790
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Pulmonary bulla, Pleural thickening, Recurrent lower respiratory tract infection... OMIM:619632
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hypoplasia of the corpus callosum, Abdominal distention, Jaundice, Thi... OMIM:618528
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Malabsorption, Chronic diarrhea, Abdominal distention OMIM:606824
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Polymicrogyria, Neonatal death OMIM:614887
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Ovarian Fibroma
Abdominal pain, Peritonitis, Pleural effusion, Abdominal distention ORPHA:314473
Visceral Myopathy, Familial, With External Ophthalmoplegia
Malnutrition, Gastroparesis, Abdominal distention, Abdominal pain, Spontaneous esophageal perfora... OMIM:277320
Fraser Syndrome 2
Intestinal malrotation, Rectal atresia, Abdominal distention, Anal atresia, Respiratory failure OMIM:617666
Mosaic Variegated Aneuploidy Syndrome
Abnormal lung lobation, Aplasia/Hypoplasia of the corpus callosum, Stomach cancer, Intestinal pol... ORPHA:1052
Joubert Syndrome
Abnormality of neuronal migration, Hydrocephalus, Encephalocele, Polymicrogyria ORPHA:475
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Friedreich Ataxia 2
Impaired vibratory sensation, Abnormal pyramidal tract morphology, Ataxia OMIM:601992
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, Intestinal malrotation, Cya... OMIM:616749
Down Syndrome
Narrow palate, Macroglossia, Gastroesophageal reflux, Impaired pain sensation, Protruding tongue,... ORPHA:870
Netherton Syndrome
Emphysema, Recurrent respiratory infections, Malabsorption, Urticaria ORPHA:634
Tuberous Sclerosis Complex
Pituitary adenoma, Generalized abnormality of skin, Pulmonary lymphangiomyomatosis, Respiratory t... ORPHA:805
Unilateral Polymicrogyria
Pseudobulbar paralysis, Nasogastric tube feeding, Cyanosis, Pulmonary arteriovenous malformation,... ORPHA:268943
Muscular Dystrophy, Duchenne Type
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:310200
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Spontaneous pneumothorax, Feeding difficulties OMIM:618154
Mosaic Variegated Aneuploidy Syndrome 2
Decreased response to growth hormone stimulation test, Microcephaly, Duodenal atresia, Abnormal l... OMIM:614114
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
Nephrotic Syndrome, Type 1
Pyloric stenosis, Neonatal respiratory distress, Gastroesophageal reflux, Abdominal distention OMIM:256300
Nocardiosis
Pneumonia, Vomiting, Emphysema, Pleural effusion, Peritonitis, Pneumothorax, Anorexia, Pleuritis,... ORPHA:31204
Celiac Disease, Susceptibility To, 1
Ataxia, Diarrhea, Vomiting, Celiac disease, Recurrent aphthous stomatitis, Cerebral calcification... OMIM:212750
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Gastroesophageal reflux, Abnormal large intestine morphol...