Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Hypoplasia of the corpus callosum, Abnormal mucociliary clearance, Atelecta... OMIM:619466
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:615411
Asbestos Intoxication
Reduced vital capacity, Ground-glass opacification, Reduced forced vital capacity, Respiratory fa... ORPHA:2302
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Simpli... OMIM:604317
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Abnormal respiratory system physiolog... ORPHA:70589
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Ataxia, Cystic pattern on pulmonary HRCT, Ground-glass opacification, Oxyge... OMIM:610978
Lissencephaly 1
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:607432
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Agyria, Lissencephaly, Death in infancy, Pachygyria OMIM:300067
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Cerebral dysmyelination, Feeding difficulties, Respiratory insufficiency, Central apnea, Death in... OMIM:611722
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Agenesis of corpus callosum, Abnormality of ... OMIM:617542
Acute Interstitial Pneumonia
Interlobular septal thickening, Pulmonary infiltrates, Hypoxemia, Nodular pattern on pulmonary HR... ORPHA:79126
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia OMIM:600348
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Nonproductive cough, Crackles, Abnormality of the gastrointestinal tract, Generalized abn... ORPHA:2902
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Simplified gyral pattern, Pachygyria,... ORPHA:1083
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Recurrent u... ORPHA:60032
Ciliary Dyskinesia, Primary, 21
Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Bronchiectasis, Neonatal... OMIM:615294
Pulmonary Blastoma
Pulmonary infiltrates, Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Dyspnea ORPHA:64741
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Distal sensory impairment, Cough, Respiratory failure requiring assisted ve... ORPHA:90117
Immunodeficiency 95
Respiratory distress, Ground-glass opacification, Recurrent viral upper respiratory tract infecti... OMIM:619773
Bronchogenic Cyst
Abnormal stomach morphology, Abdominal pain, Abnormal esophagus morphology, Abnormal pleura morph... ORPHA:2357
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Cyanosis, Intraalve... OMIM:265120
Idiopathic Acute Eosinophilic Pneumonia
Pulmonary infiltrates, Abnormal eosinophil morphology, Abdominal pain, Respiratory insufficiency,... ORPHA:724
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Microcephaly, Neonatal death, Abnormal cortical gyration, Polymicrogyria, Aplasia/Hypoplasia of t... OMIM:619602
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Atelectasis, Chronic sinusitis, Bronchiectasis, Recurrent respirat... OMIM:253240
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Pachygyria, Gray matter heterotopia ORPHA:1084
Phosphoserine Aminotransferase Deficiency
Apnea, Feeding difficulties, Cyanotic episode, Death in infancy, Secondary microcephaly OMIM:610992
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Ground-glass opacification, Cough, Nodular pattern on pulmonary HRCT ORPHA:60026
Lissencephaly 3
Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly, Pachygyria OMIM:611603
Ciliary Dyskinesia, Primary, 29
Atelectasis, Ciliary dyskinesia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria ORPHA:101029
Pontocerebellar Hypoplasia, Type 1C
Cerebral cortical atrophy, Feeding difficulties, Respiratory insufficiency, Hypoplasia of the cor... OMIM:616081
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Wheezing, Atelectasis, Bronchitis, Upper airway obstruction, Esophagit... ORPHA:3348
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Cyanosis, Tachypnea, Atelectasis, Pneumonia, Respiratory tract infection, Hypoxe... ORPHA:70587
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Ciliary Dyskinesia, Primary, 33
Cough, Chronic rhinitis, Recurrent lower respiratory tract infections, Atelectasis, Recurrent bro... OMIM:616726
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Atelectasis, Abnormal pulmonary ... ORPHA:70588
Gerstmann-Straussler-Scheinker Syndrome
Acroparesthesia, Morphological abnormality of the pyramidal tract, Paresthesia, Gait ataxia, Dyse... ORPHA:356
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Atelect... OMIM:615067
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Ataxia, Feeding difficulties, Cyanosis, Inspiratory stridor, Dys... OMIM:207950
Spinocerebellar Ataxia, X-Linked 4
Ataxia, Morphological abnormality of the pyramidal tract OMIM:301840
Chudley-Mccullough Syndrome
Hydrocephalus, Gray matter heterotopia, Polymicrogyria OMIM:604213
Familial Congenital Mirror Movements
Morphological abnormality of the corticospinal tract, Agenesis of corpus callosum ORPHA:238722
Huntington Disease-Like 3
Ataxia, Frontal cortical atrophy, Morphological abnormality of the pyramidal tract, Chorea, Cauda... OMIM:604802
Dystonia 9
Paresthesia, Choreoathetosis, Morphological abnormality of the pyramidal tract, Episodic ataxia OMIM:601042
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Death in childhood, Respiratory failure, Recurrent respiratory infections OMIM:253300
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Cerebral atrophy, Aspiration pneumonia, Nasogastric tube f... OMIM:619057
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ataxia, Cerebral atrophy, Dysphagia, Gastrointestinal dysmotility, Respiratory failure OMIM:618637
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly, Occipital encephalocele ORPHA:352682
Spinocerebellar Ataxia 13
Progressive cerebellar ataxia, Limb ataxia, Morphological abnormality of the pyramidal tract, Lim... OMIM:605259
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Cerebral atrophy, Feeding difficulties, Paucity of anterior horn motor neurons, Micr... OMIM:611890
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Pulmonary edema, Tachypnea, Atelectasis, Neonatal respiratory distress, Dys... OMIM:267450
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
High palate, Abnormal basal ganglia morphology, Small basal ganglia, Normal pressure hydrocephalu... ORPHA:300570
Congenital Neuronal Ceroid Lipofuscinosis
Cerebral hypoplasia, Apnea, Central sleep apnea, Microcephaly, Neonatal respiratory distress, Neu... ORPHA:168486
Aicardi-Goutieres Syndrome 1
Leukoencephalopathy, Acrocyanosis, Petechiae, Multiple gastric polyps, Basal ganglia calcificatio... OMIM:225750
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Hydrocephalus OMIM:618709
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Anorexia, Nonproductive cough, Cyanosis, Crackles, Ground-glass ... ORPHA:1302
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Dysphagi... ORPHA:266
Dihydropyrimidinase Deficiency
Feeding difficulties in infancy, Anal atresia, Morphological abnormality of the pyramidal tract, ... OMIM:222748
Primary Ciliary Dyskinesia
Hydrocephalus, Airway obstruction, Anomalous pulmonary venous return, Intestinal malrotation, Whe... ORPHA:244
Spinocerebellar Ataxia 10
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Morphological abnormal... OMIM:603516
Parkinsonism-Dystonia 1, Infantile-Onset
Gastroesophageal reflux, Constipation, Feeding difficulties, Morphological abnormality of the pyr... OMIM:613135
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Morphological abnormality of the corticospinal tract, Dys... OMIM:607225
Cholesterol Pneumonia
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia OMIM:215030
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebral cortical atrophy, Feeding difficulties, Polymicrogyria, Hypoplasia of the corpus callosu... OMIM:618291
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Hypoxemia, Diffuse reticular or finely nod... ORPHA:79127
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Atelectasis, Recurrent bronchitis, Chronic sinusitis OMIM:300455
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea, Hydrocephalus, Agenesis of corpus callosum, Meckel diverticulum OMIM:300864
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Desquamative interstitial pneumonitis, Cyanosis, Recurrent upper respirator... OMIM:263000
Pontocerebellar Hypoplasia, Type 4
Feeding difficulties, Microcephaly, Death in infancy, Dysphagia, Respiratory failure OMIM:225753
Bullous Dystrophy, Hereditary Macular Type
Microcephaly, Death in childhood, Acrocyanosis OMIM:302000
Spinocerebellar Ataxia 8
Dysphagia, Progressive cerebellar ataxia, Morphological abnormality of the pyramidal tract OMIM:608768
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Cerebral cortical atrophy, Impaired vibration sensation in the lower limbs, Hypoplasia of... OMIM:604360
Neuralgic Amyotrophy
Paresthesia, Respiratory insufficiency, Acrocyanosis, Cleft palate ORPHA:2901
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:617201
3-Methylglutaconic Aciduria, Type Viii
Apnea, Cerebral atrophy, Feeding difficulties, Poor suck, Hypoplasia of the corpus callosum, Deat... OMIM:617248
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Bronc... ORPHA:1303
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Cerebral cortical atrophy, Impaired vibratory sensation, Episodic vomit... OMIM:238970
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Apnea, Hydrocephalus, Ataxia, Aqueductal stenosis, Feeding difficulties, Cyanos... ORPHA:1136
Hypoxemia, Multiple pulmonary cysts, Nonproductive cough, Respiratory insufficiency, Interstitial... ORPHA:723
Nemaline Myopathy 8
Gastrostomy tube feeding in infancy, Dysphagia, Respiratory failure, Death in infancy OMIM:615348
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Ataxia, Cerebral atrophy, Microcephaly, Respiratory insufficiency, Neonatal death, Respira... OMIM:610127
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Feeding difficulties, Poor suck, Death in infancy, Thin corpus callosum, Respiratory failure OMIM:616277
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, High palate, Gastroesophageal reflux, Cleft palate, Respiratory insufficien... OMIM:614399
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Dysphagia, Exertional dyspnea, Pulmonary fibrosis ORPHA:254361
Amyotrophic Lateral Sclerosis 8
Dysphagia, Amyotrophic lateral sclerosis, Morphological abnormality of the pyramidal tract OMIM:608627
Laryngotracheal Angioma
Respiratory distress, Apnea, Feeding difficulties, Cyanosis, Vomiting, Cough, Wheezing, Intercost... ORPHA:137935
Adult Krabbe Disease
Ataxia, Acroparesthesia, Morphological abnormality of the corticospinal tract, Morphological abno... ORPHA:206448
Neuropathy, Ataxia, And Retinitis Pigmentosa
Ataxia, Corticospinal tract atrophy OMIM:551500
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Congenital Muscular Dystrophy With Intellectual Disability
Cerebral cortical atrophy, Feeding difficulties, Microcephaly, Respiratory insufficiency, Hypopla... ORPHA:370968
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Cyanosis, Chorea, Central apnea, Choreoathetosis, Progressive microcephaly ORPHA:71277
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Atelectasis... ORPHA:922
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Ataxia, Gastroesophageal reflux, Central sleep apnea, Chorea, Focal T2 ... ORPHA:70472
Multiple Mitochondrial Dysfunctions Syndrome 3
High palate, Cerebral atrophy, Feeding difficulties, Microcephaly, Respiratory insufficiency, Pol... OMIM:615330
Idiopathic Pulmonary Fibrosis
Gastroesophageal reflux, Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary inters... ORPHA:2032
Dystonia 16
Dysphagia, Morphological abnormality of the pyramidal tract OMIM:612067
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Sleep apnea, Pseudobulbar paralysis, Degeneration of anterior horn... OMIM:105400
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Mitochondrial Complex I Deficiency, Nuclear Type 10
Leukoencephalopathy, Apnea, Ataxia, Feeding difficulties, Dysmetria, Central hypoventilation, Dys... OMIM:618233
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Abdominal distention, Vomiting, Microvillus inclusio... OMIM:619445
Avian Influenza
Respiratory distress, Pulmonary infiltrates, Miscarriage, Abdominal pain, Nonproductive cough, Di... ORPHA:454836
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Microcephaly, Median cleft lip and palate, Dyspnea, Respiratory failure ORPHA:1832
Cyanosis And Hepatic Disease
Dyspnea, Cyanosis OMIM:219400
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pulmonary infiltrates, Nonproductive cough, Pleural empyema, Acute infectio... ORPHA:36238
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Feeding difficulties in infancy, Recurrent pneum... ORPHA:254875
Abnormality of neuronal migration, Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Apnea, Central Sleep
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration OMIM:207720
Giant Axonal Neuropathy 1, Autosomal Recessive
Morphological abnormality of the pyramidal tract, Vomiting, Distal sensory impairment OMIM:256850
Chronic Pneumonitis Of Infancy
Respiratory distress, Diffuse reticular or finely nodular infiltrations, Cyanosis, Ground-glass o... ORPHA:91359
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Recurrent aspiration pneumonia, Dysphagia, Respiratory fa... ORPHA:2590
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Leukoencephalopathy, Cerebral atrophy, Morphological abnormality of the pyramidal tract, Hypoplas... ORPHA:83629
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Respiratory insufficiency, Vomiting, Death in infancy, Respiratory failure OMIM:614299
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia, Respiratory failure OMIM:619887
L-2-Hydroxyglutaric Aciduria
Leukoencephalopathy, Corpus callosum atrophy, Morphological abnormality of the pyramidal tract OMIM:236792
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Myotubular Myopathy With Abnormal Genital Development
High palate, Respiratory distress, Feeding difficulties, Neonatal death, Atelectasis, Death in in... OMIM:300219
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Tracheoesophageal fistula, Pulmonary hypoplasia, Pneumonia... ORPHA:95430
Parkinson-Dementia Syndrome
Morphological abnormality of the pyramidal tract OMIM:260540
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Cerebral atrophy, Feeding difficulties, Death in childhood, Respiratory insufficiency, Neonatal d... OMIM:245400
Idiopathic Pulmonary Hemosiderosis
Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Crackles, Reticular pattern on pulmonar... ORPHA:99931
Hereditary Methemoglobinemia
Temporal cortical atrophy, Small basal ganglia, Frontal cortical atrophy, Microcephaly, Cyanosis,... ORPHA:621
Sinusitis, Abnormal jejunum morphology, Apical pulmonary opacity, Pleural empyema, Cough, Pleurit... ORPHA:449280
Laryngotracheoesophageal Cleft
Impaired oropharyngeal swallow response, Cyanosis, Cough, Aspiration, Neonatal respiratory distre... ORPHA:2004
Combined Oxidative Phosphorylation Deficiency 28
Poor appetite, Respiratory failure, Abdominal pain OMIM:616794
Interstitial Lung Disease 1
Interlobular septal thickening, Usual interstitial pneumonia, Crackles, Ground-glass opacificatio... OMIM:619611
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Malabsorption, Abdominal distention, Abdominal pain, Vomiting, Nausea, Abnormal small ... ORPHA:103907
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum, Corticospinal tract hypoplasia, Age... OMIM:307000
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure, Feeding difficul... OMIM:605711
Acute Lung Injury
Respiratory distress, Pulmonary infiltrates, Abnormal pulmonary interstitial morphology, Tachypne... ORPHA:178320
Waardenburg Syndrome Type 3
Atelectasis, Microcephaly, Acrocyanosis, Tracheomalacia ORPHA:896
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Primary Pulmonary Hypoplasia
Apnea, Asthma, Cleft palate, Microcephaly, Cyanosis, Tachypnea, Pneumothorax, Pulmonary hypoplasi... ORPHA:2257
Pyruvate Dehydrogenase E1-Beta Deficiency
Ataxia, Hypoplasia of the corpus callosum, Short corpus callosum, Corticospinal tract hypoplasia,... ORPHA:255138
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Cyanosis, Elevated pulmon... ORPHA:199241
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Intraalveolar phospholipid accumulation, Decreased DLCO, Cough, Pneumonia, Restrictive ... OMIM:610910
Trehalase Deficiency
Malabsorption, Abdominal distention, Abdominal pain, Diarrhea, Vomiting ORPHA:103909
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Morphological abnormality of the pyramidal tract, Vomiting, Chorea, Gait ataxia, Dysphagia OMIM:607483
Neurodegeneration With Brain Iron Accumulation 2A
Ataxia, Cerebral atrophy, Morphological abnormality of the pyramidal tract OMIM:256600
Lissencephaly 5
Hydrocephalus, Gray matter heterotopia, Type II lissencephaly, Subcortical band heterotopia, Occi... OMIM:615191
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Malabsorption, Ataxia, Constipation, Abdominal distention, Abdominal pain, Abnormal cerebral whit... OMIM:613662
Hyperekplexia 4
High palate, Respiratory failure, Cerebral atrophy OMIM:618011
Decreased liver function, Cerebral atrophy, Abnormality of the gastrointestinal tract, Protein-lo... ORPHA:79327
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Asthma, Pulmonary infiltrates, Sinusitis, Chronic pulmonary obstruction, Hypersensitivity pneumon... ORPHA:1163
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Gastroesophageal reflux, Chronic pulmonary obstruction, Cyanosis, Cough, Pl... ORPHA:2414
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates OMIM:235900
Combined Oxidative Phosphorylation Defect Type 23
Abnormal basal ganglia MRI signal intensity, Cyanosis, Stridor, Feeding difficulties in infancy, ... ORPHA:444013
Vacterl Association With Hydrocephalus
Anal atresia, Hydrocephalus, Aqueductal stenosis, Respiratory insufficiency, Respiratory failure,... OMIM:276950
Spastic Paraplegia 3, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Hypoplasia of the corpus callosum, Impaired vib... OMIM:182600
Hepatic Veno-Occlusive Disease
Respiratory failure, Jaundice, Abdominal pain ORPHA:890
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Dysphagia, Amyotrophic lateral sclerosis, Respiratory failure, Tongue atrophy OMIM:613435
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Microcephaly, Diarrhea, Nausea, Dysphagia, Dyspnea, Poor appetite, Respiratory failure, Respirato... ORPHA:352447
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory insufficiency, Respiratory failure OMIM:613869
Spastic Paraplegia 8, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs OMIM:603563
Melena, Gastritis, Unusual gastrointestinal infection, Diarrhea, Vomiting, Acute infectious pneum... ORPHA:73263
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Abnormal cortical gyration, Pulmonary hypoplasia, Neonatal respiratory distress, Dysphagia, Respi... OMIM:616867
Pulmonary Alveolar Microlithiasis
Ground-glass opacification, Hypoxemia, Respiratory failure, Interlobular septal thickening, Oxyge... ORPHA:60025
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Cerebral cortical atr... ORPHA:488627
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Holoprosencephaly, Intestinal malrotation, Respiratory insufficiency, Anencephaly,... OMIM:269860
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Gastroesophageal reflux, Macroglossia, Respiratory insufficiency, Recurrent lower respiratory tra... ORPHA:258
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Pulmonary infiltrates, Elevated bronchoalveolar lavage fluid lymphocyte proportio... OMIM:612387
Neuromyelitis Optica Spectrum Disorder
Somatic sensory dysfunction, Nausea, Respiratory failure ORPHA:71211
Subependymal Nodular Heterotopia
Myelomeningocele, Gray matter heterotopia, Nasofrontal encephalocele, Polymicrogyria, Meningocele... ORPHA:101030
Snakebite Envenomation
Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory paralysis, Epistaxis, Diarrhea, Eryt... ORPHA:449285
Brain-Lung-Thyroid Syndrome
Respiratory distress, Asthma, Ataxia, Recurrent respiratory infections, Cavum septum pellucidum, ... ORPHA:209905
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Chronic rhinitis, Atelectasis, Recurrent bronchitis, Ciliary dyskine... OMIM:244400
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Feeding difficulties, Central hypoventilation, Episodic vomiting, Chronic constipation, Re... OMIM:619483
Spastic Paraplegia 2, X-Linked
Degeneration of the lateral corticospinal tracts, Dysmetria OMIM:312920
Hydrocephalus, Pulmonary infiltrates, Chylothorax, Abdominal pain, Cough, Pneumothorax, Atelectas... ORPHA:538
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
Niemann-Pick Disease, Type C2
Ataxia, Prolonged neonatal jaundice, Jaundice, Death in childhood, Respiratory insufficiency, Neu... OMIM:607625
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pulmonary infiltrates, Pulmonary edema, Pneumonia, Hypoxemia, Dyspnea, ... ORPHA:70578
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Ground-gla... ORPHA:133
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Spastic Paraplegia 7, Autosomal Recessive
Cerebral cortical atrophy, Dysmetria, Impaired vibration sensation in the lower limbs, Dysdiadoch... OMIM:607259
Allergic Bronchopulmonary Aspergillosis
Asthma, Cerebral cortical atrophy, Abnormal eosinophil morphology, Respiratory insufficiency, Cou... ORPHA:1164
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Diarrhea, Cough, Pneumothorax, Pul... ORPHA:411703
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Cyanosis, Crackles, Intraalveolar phospholipid accumulation, Decreased DLCO... ORPHA:747
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Chronic rhiniti... OMIM:608647
Diffuse Alveolar Hemorrhage
Irregular septal thickening on pulmonary HRCT, Airway obstruction, Pulmonary venous hypertension,... ORPHA:90060
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Decreased liver function, Apnea, Ataxia, Poor suck, Central hypoventilation... ORPHA:70474
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Dysmetria, Dysdiadochokinesis, Chorea, Dysphagia, Impaired proprio... ORPHA:98755
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Feeding difficulties, Recurrent respiratory infections, Death in childhood, Diarrhea, Respiratory... OMIM:618278
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... ORPHA:60033
Autosomal Dominant Spastic Paraplegia Type 19
Degeneration of the lateral corticospinal tracts, Impaired proprioception, Limb ataxia, Impaired ... ORPHA:100999
Frontotemporal Dementia With Motor Neuron Disease
Progressive cerebellar ataxia, Abnormal lower motor neuron morphology, Degeneration of the latera... ORPHA:275872
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Hepatocellular carcinoma,... OMIM:613490
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Ataxia, Cerebral atrophy, Gait ataxia, Caudate atrophy, Resp... ORPHA:363400
Narp Syndrome
Ataxia, Cerebral cortical atrophy, Abnormal basal ganglia MRI signal intensity, Progressive gait ... ORPHA:644
Postsynaptic Congenital Myasthenic Syndromes
High palate, Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Exertio... ORPHA:98913
Isolated Polycystic Liver Disease
Abdominal distention, Gastroesophageal reflux, Abdominal pain, Respiratory insufficiency, Feeding... ORPHA:2924
Encephalopathy, Ethylmalonic
Ataxia, Petechiae, Feeding difficulties, Focal T2 hyperintense basal ganglia lesion, Death in inf... OMIM:602473
Laryngeal Abductor Paralysis
Dysphagia, Microcephaly, Stridor, Cyanosis OMIM:150260
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Nasogastric tube feeding, Hypoplasia of the corpus callosum, Cyanotic episode, Feeding difficulti... ORPHA:284417
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Lujo Hemorrhagic Fever
Abdominal cramps, Respiratory distress, Odynophagia, Nonproductive cough, Diarrhea, Fulminant hep... ORPHA:319213
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Leukoencephalopathy, Ataxia, Intestinal bleeding, Cerebral calcification, Retinal telangiectasia,... OMIM:612199
Autosomal Dominant Hyper-Ige Syndrome
Cleft palate, Eosinophilia, Generalized abnormality of skin, Cough, Atelectasis, Recurrent respir... ORPHA:2314
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Autosomal Dominant Spastic Paraplegia Type 8
Degeneration of the lateral corticospinal tracts, Limb dysmetria, Limb ataxia, Impaired vibration... ORPHA:100989
Congenital Myasthenic Syndrome
High palate, Nasal regurgitation, Ataxia, Episodic respiratory distress, Gastroesophageal reflux,... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
High palate, Nasal regurgitation, Ataxia, Episodic respiratory distress, Gastroesophageal reflux,... ORPHA:98914
Malignant Atrophic Papulosis
Telangiectasia of the skin, Pain insensitivity, Abdominal pain, Peritonitis, Gastrointestinal inf... ORPHA:679
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Apnea, Narrow palate, Basal ganglia cysts, Diarrhea, Microcephaly, Vomiting, Polymic... OMIM:608836
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy, Feeding difficulties OMIM:618240
Immunodeficiency 54
Adrenocorticotropic hormone excess, Respiratory insufficiency, Microcephaly, Respiratory failure,... OMIM:609981
Farber Disease
Respiratory distress, Feeding difficulties, Nodular pattern on pulmonary HRCT, Hepatic failure, D... ORPHA:333
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:228940
Leigh Syndrome
Ataxia, Focal substantia nigra T2 hyperintensity, Respiratory insufficiency, Abnormal pattern of ... OMIM:256000
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Esophageal Atresia
Respiratory distress, Cleft palate, Tracheoesophageal fistula, Vomiting, Pyloric stenosis, Pulmon... ORPHA:1199
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Ataxia, Cerebral atrophy, Death in childhood, Tachypnea, Abnormal periventricular white matter mo... OMIM:615838
Spastic Paraplegia 4, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs OMIM:182601
Autosomal Dominant Spastic Paraplegia Type 38
Degeneration of the lateral corticospinal tracts, Frontotemporal cerebral atrophy, Impaired vibra... ORPHA:171617
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Leukoencephalopathy, Ataxia, Death in childhood, Myelopathy, Bradypnea, Cerebral white matter atr... OMIM:617186
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Bloody diarrhea, Duodenal atresia, Enterocolitis, Intestinal atresia, Intestinal malrotation, Dea... OMIM:243150
Eosinophilic Granulomatosis With Polyangiitis
Asthma, Malabsorption, Pulmonary infiltrates, Gastroesophageal reflux, Sinusitis, Abdominal pain,... ORPHA:183
Autosomal Dominant Spastic Paraplegia Type 42
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs ORPHA:171863
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dysphagia, Respiratory fai... OMIM:613954
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Abdominal distention, Feeding difficulties, Hepatic failure, Hypoplasia of the corpus callosum, D... OMIM:618528
Autosomal Dominant Spastic Paraplegia Type 37
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs ORPHA:171612
Intermediate Nemaline Myopathy
Dysphagia, Respiratory failure, High, narrow palate ORPHA:171433
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Narrow palate, Dysmetria, Basal ganglia calcification, Distal sensory impairment, Gait at... OMIM:616505
Combined Oxidative Phosphorylation Deficiency 52
Anorexia, Respiratory failure, Death in infancy OMIM:619386
Mercury Poisoning
Respiratory distress, Episodic abdominal pain, Anorexia, Interstitial pneumonitis, Episodic vomit... ORPHA:330021
Congenital Pancreatic Cyst
Abdominal distention, Abdominal pain, Anorexia, Vomiting, Jaundice ORPHA:313906
Atresia Of Small Intestine
Abdominal distention, Feeding difficulties, Intestinal malrotation, Vomiting, Intestinal hypoplas... ORPHA:1201
Intestinal Dysmotility Syndrome
High palate, Abdominal distention, Feeding difficulties, Projectile vomiting, Diarrhea, Decreased... OMIM:620045
Riddle Syndrome
Ataxia, Abdominal pain, Microcephaly, Diarrhea, Conjunctival telangiectasia, Erythema, Abnormal p... ORPHA:420741
Leigh Syndrome
Ataxia, Feeding difficulties, Hepatic failure, Abnormal basal ganglia MRI signal intensity, Encep... ORPHA:506
Hsd10 Disease, Infantile Type
Abnormal basal ganglia morphology, Cerebral atrophy, Microcephaly, Cyanosis, Diffuse cerebral atr... ORPHA:391428
Congenital Sucrase-Isomaltase Deficiency
Diarrhea, Abdominal distention, Vomiting, Abdominal colic ORPHA:35122
Restrictive Dermopathy 2
Respiratory distress, Gastroesophageal reflux, Feeding difficulties, Cyanosis, Rectal prolapse OMIM:619793
Pulmonary Hemosiderosis
Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Transient pulmonary infiltrates, ... OMIM:178550
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
High palate, Sleep apnea, Duodenal atresia, Gastroesophageal reflux, Feeding difficulties, Microc... OMIM:616975
Whim Syndrome
Sinusitis, Limb ataxia, Recurrent upper respiratory tract infections, Atelectasis, Abnormality of... ORPHA:51636
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary infiltrates, Interstitial pneumonitis, Intraalveolar phospholipid accumulation, Chronic... ORPHA:217563
Congenital Tracheal Stenosis
Respiratory distress, Anal atresia, Duodenal atresia, Abnormal stomach morphology, Morphological ... ORPHA:141127
Autosomal Dominant Spastic Paraplegia Type 12
Limb ataxia, Impaired vibration sensation in the lower limbs, Degeneration of the lateral cortico... ORPHA:100993
Congenital Short Bowel Syndrome
Abdominal distention, Intestinal atresia, Steatorrhea, Projectile vomiting, Intestinal malrotatio... OMIM:615237
Legionnaires Disease
Pulmonary infiltrates, Ataxia, Abdominal pain, Anorexia, Respiratory insufficiency, Diarrhea, Abn... ORPHA:549
Mitochondrial Neurogastrointestinal Encephalomyopathy
Leukoencephalopathy, Gastroesophageal reflux, Abdominal distention, Abdominal pain, Atrophic musc... ORPHA:298
Volvulus Of Midgut
Abdominal distention, Constipation, Neonatal intestinal obstruction, Intestinal malrotation, Volv... OMIM:193250
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Constipation, Degeneration of anterior horn cells, Tachypnea, Inspiratory stridor, Ventilator dep... OMIM:604320
Proximal Spinal Muscular Atrophy
Constipation, Gastroesophageal reflux, Recurrent infections due to aspiration, Hypoventilation, P... ORPHA:70
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Pachygyria, Gray matter heterotopia, Polymicrogyria ORPHA:99802
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Diarrhea, Vomiting, Tachypnea, Nausea, Pleural effusion, Hypoxemia, Poor appetit... ORPHA:542323
Acquired Methemoglobinemia
Respiratory distress, Abdominal pain, Cyanosis, Vomiting, Hypoxemia, Dyspnea ORPHA:464453
Colonic Atresia
Colonic atresia, Abdominal distention OMIM:303650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Holoprosencephaly, Pachygyria, Respiratory insufficiency, Polymicrogyria, Type II ... OMIM:253800
Sepsis In Premature Infants
Decreased liver function, Petechiae, Abdominal distention, Enterocolitis, Cyanosis, Diarrhea, Abn... ORPHA:90051
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... OMIM:619079
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
High palate, Decreased liver function, Leukoencephalopathy, Respiratory distress, Ataxia, Death i... OMIM:220110
Secondary Short Bowel Syndrome
Malabsorption, Constipation, Enterocolitis, Abdominal distention, Steatorrhea, Small intestinal d... ORPHA:95427
Arthrogryposis Multiplex Congenita 6
Death in childhood, Respiratory failure, Neonatal death, Death in infancy OMIM:619334
Microform Holoprosencephaly
Asthma, Duodenal atresia, Cleft palate, Holoprosencephaly, Panhypopituitarism, Microcephaly, Agen... ORPHA:280200
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Pachygyria, Polymicrogyria, Lissencephaly, Simplified gyral pattern,... OMIM:616212
Choanal Atresia
Respiratory distress, Feeding difficulties, Tracheomalacia, Cyanosis, Abnormal nasal mucus secret... ORPHA:137914
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Sleep apnea, Macroglossia, Respiratory insufficiency, Orthopnea, Feeding di... ORPHA:365
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Tube feeding, Cerebral atrophy, Feeding difficulties, Death in childhood, Microcephaly, Primary m... OMIM:619847
Respiratory distress, Pulmonary infiltrates, Cough, Abnormal pulmonary thoracic imaging finding, ... ORPHA:3392
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Leber Congenital Amaurosis
Abnormality of neuronal migration, Encephalocele ORPHA:65
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Ataxia, Abdominal pain, Peritonitis, Diarrhea, Erythema, Intestinal obstruction, Purpu... ORPHA:343
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Pulmonary infiltrates, Colitis, Chronic diarrhea, Ulcerative colitis, Bronchiect... OMIM:618394
Niemann-Pick Disease, Type B
Diffuse reticular or finely nodular infiltrations, Abnormal pulmonary interstitial morphology, De... OMIM:607616
Surfactant Metabolism Dysfunction, Pulmonary, 5
Interlobular septal thickening, Respiratory insufficiency, Intraalveolar phospholipid accumulatio... OMIM:614370
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Xerostomia, Abnormal respiratory system physiology, Motor neuron a... ORPHA:803
Ethylmalonic Encephalopathy
Ataxia, Petechiae, Abnormal basal ganglia MRI signal intensity, Diarrhea, Acrocyanosis ORPHA:51188
Pulmonary Arteriovenous Malformation
Hypoxemia, Hemothorax, Pleural empyema, Cyanosis, Pulmonary hemorrhage, Cough, Pulmonary arterial... ORPHA:2038
Primary Effusion Lymphoma
Dyspnea, Pleural effusion, Abdominal distention, Abdominal pain ORPHA:48686
Hypoadrenocorticism, Familial
Feeding difficulties in infancy, Apnea, Cyanosis, Vomiting OMIM:240200
Eosinophilia, Familial
Eosinophilia, Recurrent bronchitis, Pulmonary infiltrates OMIM:131400
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis, Gastroesophageal reflux ORPHA:1949
Thoracic Dysplasia-Hydrocephalus Syndrome
Ataxia, Respiratory failure, Communicating hydrocephalus ORPHA:1861
Adiposis Dolorosa
Abdominal distention, Painful subcutaneous lipomas, Constipation OMIM:103200
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Aplasia/Hypoplasia of the tongue, Dyspnea, Respiratory failure, Recurrent r... ORPHA:2759
Meckel Syndrome 14
Abdominal distention, Holoprosencephaly, Occipital encephalocele, Cyanosis, Pneumothorax, Pulmona... OMIM:619879
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia ORPHA:370980
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cerebral cortical atrophy, Microcephaly, Death in infancy, Respiratory failure, Aplasia/Hypoplasi... ORPHA:1194
Tetrasomy 5P
High palate, Respiratory distress, Hydrocephalus, Cyanosis, Pulmonary hypoplasia, Pulmonary arter... ORPHA:3309
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Ataxia, Cerebral cortical atrophy, Feeding difficulties, Hypoplasia of the corpus callosum, Respi... ORPHA:496641
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Intraalveolar phospholipid accumulation, Reduced ... OMIM:300770
Lymphoid Interstitial Pneumonia
Pulmonary venous hypertension, Subpleural interstitial thickening, Hypoxemia, Multiple pulmonary ... ORPHA:79128
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Malabsorption, Pulmonary infiltrates, Gastroesophageal reflux, Abnorm... ORPHA:220393
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Microcephaly, Truncal ataxia, Hypoplasia of the corpus callosum, Abnormal cerebral white matter m... OMIM:614407
Stromme Syndrome
Hydrocephalus, Duodenal atresia, Cleft palate, Intestinal malrotation, Microcephaly, Jejunal atre... OMIM:243605
Infantile Krabbe Disease
Respiratory distress, Gastroesophageal reflux, Feeding difficulties, Vomiting, Diffuse cerebral a... ORPHA:206436
Breath-Holding Spells
Cyanosis OMIM:607578
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Abdominal distention, Death in childhood, Death in infancy, Secondary... OMIM:619423
Hirschsprung Disease, Susceptibility To, 1
Constipation, Abdominal distention, Enterocolitis, Vomiting, Abnormality of enteric ganglion morp... OMIM:142623
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Polymicrogyria, Lissencephaly, Pachygyria ORPHA:300573
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
High palate, Respiratory distress, Hydrocephalus, Bruising susceptibility, Tracheomalacia, Repeat... ORPHA:536467
Emphysema, Hereditary Pulmonary
Chronic pulmonary obstruction, Chronic bronchitis, Emphysema OMIM:130700
Anti-Glomerular Basement Membrane Disease
Respiratory insufficiency, Pulmonary infiltrates, Purpura, Cough ORPHA:375
22Q11.2 Deletion Syndrome
Hydrocephalus, Constipation, Cleft palate, Anorectal anomaly, Gastrointestinal hemorrhage, Anal a... ORPHA:567
Bickerstaff Brainstem Encephalitis
Recurrent gastroenteritis, Ataxia, Sensory ataxia, Hypercapnia, Respiratory failure requiring ass... ORPHA:79138
3-Methylglutaconic Aciduria Type 7
Abnormal basal ganglia morphology, Cerebral atrophy, Feeding difficulties, Choreoathetosis, Prima... ORPHA:445038
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Autosomal Dominant Spastic Paraplegia Type 41
Degeneration of the lateral corticospinal tracts ORPHA:320355
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia ORPHA:2512
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
Tricuspid Atresia
Cyanosis, Pulmonary artery atresia ORPHA:1209
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Macroglossia, Multifocal hyperintensity of cerebral white matter on MRI, Re... ORPHA:308552
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory insufficiency, Respiratory failure, Communicating hydrocephalus OMIM:273730
Cystic Echinococcosis
Abdominal symptom, Asthma, Urticaria, Pulmonary cyst, Multiple pulmonary cysts, Abnormal subpleur... ORPHA:400
Nephronophthisis-Like Nephropathy 2
Bronchiectasis, Pulmonary infiltrates, Recurrent respiratory infections, Cough OMIM:619468
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea, Ataxia, Abdominal distention, Chorea, Frontotemporal cerebral atrophy ORPHA:79097
Combined Oxidative Phosphorylation Deficiency 4
Microcephaly, Respiratory failure, Death in infancy, Polymicrogyria OMIM:610678
Diarrhea 7, Protein-Losing Enteropathy Type
Diarrhea, Vomiting, Villous atrophy, Protein-losing enteropathy, Abdominal colic OMIM:615863
Buerger Disease
Paresthesia, Acrocyanosis ORPHA:36258
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Ataxia, Microcephaly, Cyanosis, Choreoathetosis, Protruding tongue, Gait ataxia, Thin corp... OMIM:619580
Thyroid Hemiagenesis
Abdominal distention, Constipation, Jaundice, Macroglossia ORPHA:95719
Hereditary Motor And Sensory Neuropathy, Type Iic
Distal sensory impairment, Respiratory failure, Intercostal muscle weakness, Stridor, Obstructive... OMIM:606071
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Abdominal distention, Constipation, Macroglossia, Feeding difficulties in i... ORPHA:226313
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Respiratory failure, Bruising susceptibility, Recurrent respiratory infections ORPHA:3226
Fryns Syndrome
High palate, Ectopic anus, Anal atresia, Duodenal atresia, Gastroesophageal reflux, Aganglionic m... ORPHA:2059
Immunodeficiency 27A
Pulmonary infiltrates, Anorexia, Diarrhea, Abnormal bronchus physiology, Pneumonia OMIM:209950
Pelizaeus-Merzbacher Disease, Connatal Form
Ataxia, Nasogastric tube feeding, Respiratory failure, Macrogyria, Confluent hyperintensity of ce... ORPHA:280210
Boutonneuse Fever
Petechiae, Abdominal pain, Diarrhea, Nausea, Respiratory failure ORPHA:83313
Eosinophilic Gastroenteritis
Asthma, Malabsorption, Abdominal pain, Steatorrhea, Eosinophilia, Diarrhea, Abnormality of the ga... ORPHA:2070
Fanconi Anemia, Complementation Group B
Hydrocephalus, Duodenal atresia, Tracheoesophageal fistula, Hypoplasia of the corpus callosum, Ab... OMIM:300514
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Triosephosphate Isomerase Deficiency
Respiratory distress, Cerebral atrophy, Jaundice, Respiratory insufficiency, Death in adolescence... OMIM:615512
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Mitochondrial Complex I Deficiency, Nuclear Type 1
Leukoencephalopathy, Apnea, Ataxia, Hepatic failure, Focal T2 hypointense basal ganglia lesion, M... OMIM:252010
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diarrhea, Subcortical white matter calcifications, Vomiting, Diffuse cerebral atrophy, Respirator... ORPHA:3240
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Microcephaly, Cyanosis OMIM:250800
Congenital Multicore Myopathy With External Ophthalmoplegia
High palate, Feeding difficulties, Pneumonia, Abnormal respiratory system physiology, Respiratory... ORPHA:98905
Waldenström Macroglobulinemia
Malabsorption, Pulmonary infiltrates, Urticaria, Ataxia, Anorexia, Cutis marmorata, Respiratory i... ORPHA:33226
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Abdominal pain, Bruising susceptibility, Cyanosis, Volvulus ORPHA:335
Motor Neuropathy, Peripheral, With Dysautonomia
Achalasia, Cyanosis OMIM:252320
Niemann-Pick Disease, Type A
Constipation, Diffuse reticular or finely nodular infiltrations, Vomiting, Athetosis, Feeding dif... OMIM:257200
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Microlissencephaly, 4-layered lissencephaly ORPHA:89844
Vascular Hyalinosis
Malabsorption, Cerebral calcification, Diarrhea, Hematochezia, Protein-losing enteropathy, Premat... OMIM:277175
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Cerebral calcification, Polymicrogyria, Hypoplasia of the corpus callosum, Agyria,... OMIM:616538
Ethylene Glycol Poisoning
Ataxia, Episodic respiratory distress, Gastritis, Pulmonary edema, Cyanosis, Vomiting, Tachypnea,... ORPHA:31826
Double Outlet Right Ventricle
Cleft palate, Feeding difficulties, Intestinal malrotation, Cyanosis, Tachypnea, Pulmonary artery... ORPHA:3426
Structural Heart Defects And Renal Anomalies Syndrome
Microcephaly, Cyanosis, Partial agenesis of the corpus callosum, Partial anomalous pulmonary veno... OMIM:617478
Histiocytoid Cardiomyopathy
Hydrocephalus, Pulmonary edema, Cleft palate, Cyanosis, Vomiting, Tachypnea, Cough, Agenesis of c... ORPHA:137675
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, High, narrow palate, Feeding difficulties, Microcephaly, Dyspnea, Respirato... ORPHA:2707
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Gray matter heterotopia, Anencephaly, Type II lissencephaly, Occipital encephalocele OMIM:615287
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Constipation, Gastroesophageal reflux, Abdominal pain, Intest... ORPHA:263665
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Achalasia, Acrocyanosis ORPHA:2400
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Feeding difficulties, Vomiting, Cardiorespiratory arrest, Restrictive v... ORPHA:26791
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Necrotizing enterocolitis, Intestinal ... OMIM:619350
Sandestig-Stefanova Syndrome
High palate, Primary microcephaly, Respiratory failure, Hypoplasia of the corpus callosum OMIM:618804
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Porphyria Due To Ala Dehydratase Deficiency
Abdominal distention, Constipation, Abdominal pain, Respiratory insufficiency, Diarrhea, Episodic... ORPHA:100924
Achondrogenesis, Type Ib
Abdominal distention, Respiratory insufficiency, Stillbirth OMIM:600972
Acromelic Frontonasal Dysostosis
Periventricular nodular heterotopia, Hypopituitarism, Gray matter heterotopia, Encephalocele OMIM:603671
Hypocomplementemic Urticarial Vasculitis
Airway obstruction, Ataxia, Abdominal pain, Diarrhea, Cough, Angioedema, Restrictive ventilatory ... ORPHA:36412
Goodpasture Syndrome
Pulmonary infiltrates, Increased DLCO, Nodular pattern on pulmonary HRCT, Cyanosis, Crackles, Pul... OMIM:233450
Granulomatous Disease, Chronic, X-Linked
Cough, Atelectasis, Rectal abscess, Recurrent pneumonia, Air bronchogram, Pleural effusion OMIM:306400
Peripartum Cardiomyopathy
Asthma, Abdominal pain, Paroxysmal dyspnea, Crackles, Orthopnea, Dyspnea, Exertional dyspnea, Pul... ORPHA:563
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration, Hydrocephalus, Holoprosencephaly, Encephalocele ORPHA:93274
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Pulmonary infiltrates OMIM:607685
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Respiratory failure, Basal ganglia calcification OMIM:135100
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly OMIM:615219
Alpha-1-Antitrypsin Deficiency
Jaundice, Emphysema, Hepatic failure ORPHA:60
Niemann-Pick Disease Type C
Pulmonary infiltrates, Ataxia, Frontal cortical atrophy, Cerebral atrophy, Feeding difficulties, ... ORPHA:646
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Elevated fecal osmolality, Abdominal distention, Abnormal large inte... ORPHA:92050
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Abdominal distention, Intestinal malrotation, Vomiting, Feeding difficulties in infancy, Pyloric ... OMIM:300048
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Nocturnal hypoventilation, Respiratory failure, Reduced vital capacity OMIM:603689
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Urticaria, Vasculitis in the skin, Cutis marmorata, Vomiting, Malabsorption... ORPHA:3260
Relapsing Polychondritis
Erythema, Abnormal pattern of respiration, Cough, Atelectasis, Purpura, Recurrent aphthous stomat... ORPHA:728
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Ataxia, Impaired vibratory sensation, Morphological abnormality of the pyramidal tract, Distal se... OMIM:302900
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Asthma, Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation ... ORPHA:293987
Smith-Magenis Syndrome
Constipation, Gastroesophageal reflux, Cleft palate, Microcephaly, Feeding difficulties in infanc... ORPHA:819
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Gray matter heterotopia, Encephalocele, Polymicrogyria, Type II lissencephaly, Agy... OMIM:614643
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hydrocephalus ORPHA:1895
Holoprosencephaly 13, X-Linked
Duodenal atresia, Gastroesophageal reflux, Median cleft palate, Alobar holoprosencephaly, Cleft p... OMIM:301043
Paralytic ileus, Anorexia, Vomiting, Respiratory failure requiring assisted ventilation, Nausea, ... ORPHA:2912
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis, Cerebral atrophy, Hepatic failure OMIM:261680
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Dyspnea, Abdominal distention OMIM:174050
Zollinger-Ellison Syndrome
Pituitary growth hormone cell adenoma, Pituitary adenoma, Elevated circulating growth hormone con... ORPHA:913
Cap Polyposis
Abdominal distention, Constipation, Abdominal pain, Diarrhea, Hematochezia, Colorectal polyposis,... ORPHA:160148
Metatropic Dysplasia
Respiratory insufficiency, Respiratory failure OMIM:156530
Walker-Warburg Syndrome
Hydrocephalus, Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal... ORPHA:899
Abdominal distention, Macroglossia, Constipation, Feeding difficulties ORPHA:95713
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Pulmonary hypoplasia, Respiratory failure OMIM:617895
Congenital Muscular Dystrophy With Cerebellar Involvement
Decreased thalamic volume, Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Type II lissen... ORPHA:370959
Severe Congenital Nemaline Myopathy
Dysphagia, Pulmonary hypoplasia, Respiratory failure ORPHA:171430
Fanconi Anemia, Complementation Group W
Microcephaly, Duodenal atresia, Abnormal periventricular white matter morphology, Decreased respo... OMIM:617784
Ataxia, Dysmetria, Steatorrhea, Impaired vibratory sensation, Positive Romberg sign, Vomiting, Ga... ORPHA:14
Meckel Syndrome, Type 8
Microcephaly, Encephalocele, Abdominal distention, Cleft palate OMIM:613885
Bloom Syndrome
Recurrent gastroenteritis, Neoplasm of the colon, Esophageal neoplasm, Gastroesophageal reflux, R... ORPHA:125
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Gray matter heterotopia OMIM:164180
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Abdominal distention, Diarrhea, Vomiting, Neonatal death, Protein-losin... OMIM:608104
Letterer-Siwe Disease
Pulmonary infiltrates, Abdominal distention, Stomatitis, Dyspnea, Jaundice OMIM:246400
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure, Feeding difficul... OMIM:613845
Inflammatory Pseudotumor Of The Liver
Neoplasm of the liver, Abdominal distention, Abdominal pain, Vomiting, Nausea ORPHA:90003
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Gastroesophageal r... ORPHA:3342
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic failure, Respiratory insufficiency, Microcephaly, Cyanosis, Sudden episodic apnea ORPHA:159
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal... ORPHA:2211
S-Adenosylhomocysteine Hydrolase Deficiency
Microcephaly, Hepatocellular carcinoma, Hypoplasia of the corpus callosum, Hyperintensity of cere... ORPHA:88618
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebral hypoplasia, Duodenal atresia, Cerebral atrophy, Hypoplasia of the frontal lobes, Microce... ORPHA:468631
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Cerebral atrophy, Hepatic failure, Microcephaly, Respiratory failure, Diffuse whit... OMIM:259720
Friedreich Ataxia 2
Ataxia, Morphological abnormality of the pyramidal tract, Impaired vibratory sensation OMIM:601992
Pulmonary infiltrates, Sinusitis, Air crescent sign, Peritonitis, Parenchymal consolidation, Grou... ORPHA:228119
Spondylocostal Dysostosis 1, Autosomal Recessive
Abdominal distention, Death in infancy, Recurrent respiratory infections, Protuberant abdomen OMIM:277300
Eosinophilic Fasciitis
Paresthesia, Eosinophilia, Acrocyanosis, Abnormal eosinophil morphology ORPHA:3165
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Cyanosis, Respiratory failure requiring assisted ventilation, ... ORPHA:555874
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Alpha-Heavy Chain Disease
Malabsorption, Abnormality of the small intestine, Abdominal pain ORPHA:100025
Pitt-Hopkins Syndrome
Sleep apnea, Ataxia, Hiatus hernia, Constipation, Gastroesophageal reflux, Feeding difficulties, ... ORPHA:2896
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Feeding difficulties, Cyanosis, Crackles, Elevated pulmonary arter... ORPHA:1329
Nephronophthisis 2
Pulmonary hypoplasia, Respiratory insufficiency, Respiratory failure OMIM:602088
Neurocutaneous Melanocytosis
Abnormality of neuronal migration, Death in infancy, Meningocele ORPHA:2481
Rajab Interstitial Lung Disease With Brain Calcifications 1
High palate, Decreased liver function, Gastroesophageal reflux, Cerebral atrophy, Feeding difficu... OMIM:613658
Muscular Dystrophy, Duchenne Type
Respiratory failure, Restrictive ventilatory defect, Hypoventilation, Respiratory insufficiency d... OMIM:310200
Jacobsen Syndrome
Ectopic anus, Duodenal atresia, Constipation, Cerebral atrophy, Intestinal malrotation, Feeding d... ORPHA:2308
Malignant Peritoneal Mesothelioma
Ileus, Abdominal distention, Abdominal pain, Peritonitis, Dyspnea ORPHA:168811
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis OMIM:610773
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Miscarriage, Hemothorax, Pulmonary hemorrhage, Hematochezia, ... OMIM:187300
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea OMIM:606824
Peroxisome Biogenesis Disorder 4A (Zellweger)
Feeding difficulties in infancy, Respiratory failure, Death in infancy OMIM:614862
Oculocerebrorenal Syndrome Of Lowe
Malabsorption, Narrow palate, Constipation, Gastroesophageal reflux, Respiratory insufficiency, F... ORPHA:534
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Microcephaly, Hypoplasia of the corpus callosum, Dysphagia, Respiratory failure OMIM:617301
Friedreich Ataxia And Congenital Glaucoma
Ataxia, Morphological abnormality of the pyramidal tract, Impaired vibratory sensation OMIM:229310
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Abdominal pain, Anorexia, Diarrhea, Xerostomia, Vomiting, Hematochezia, Glossitis,... OMIM:175500
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Constipation, Cleft palate, Large basal ganglia, Pulmonary artery sling, Hypoplasia of the corpus... ORPHA:261552
Congenital Fiber-Type Disproportion Myopathy
High palate, Feeding difficulties, Hypoxemia, Weakness of muscles of respiration, Aspiration pneu... ORPHA:2020
Cerebral dysmyelination, Adrenocorticotropic hormone excess, Atrophy/Degeneration involving the c... ORPHA:139399
Absence Of The Pulmonary Artery
Pulmonary edema, Nonproductive cough, Cyanosis, Orthopnea, Abnormal pulmonary thoracic imaging fi... ORPHA:980
Cocaine Intoxication
Respiratory distress, Bloody diarrhea, Colitis, Pulmonary infiltrates, Pulmonary edema, Abdominal... ORPHA:90068
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Griscelli Syndrome Type 2
Pulmonary infiltrates, Petechiae, Premature graying of hair, Nausea and vomiting, Jaundice ORPHA:79477
Respiratory distress, Ataxia, Miscarriage, Jaundice, Abdominal pain, Peritonitis, Diarrhea, Vomit... ORPHA:533
Drug Reaction With Eosinophilia And Systemic Symptoms
Pulmonary infiltrates, Acute hepatic failure, Eosinophilia, Interstitial pneumonitis, Erythema, C... ORPHA:139402
Nijmegen Breakage Syndrome
Anal atresia, Cleft palate, Microcephaly, Cutaneous photosensitivity, Anal stenosis, Recurrent pn... ORPHA:647
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Melena, Petechiae, Pulmonary edema, Hematemesis, Abdominal pain, Epistaxis,... ORPHA:340
Oculogastrointestinal Muscular Dystrophy
Malabsorption, Abnormal gastric mucosa morphology, Abdominal distention, Abnormality of the gastr... ORPHA:1876
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Hydrocephalus, Feeding difficulties, Absent septum pellucidum, Microcephaly... ORPHA:2556
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory insufficiency, Respiratory failure, Hypercapnia OMIM:267480
Puerto Rican Infant Hypotonia Syndrome
High palate, Narrow palate, Abdominal distention, Constipation, Chronic constipation OMIM:600096
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Nonarteriosclerotic cerebral calcification, Emphysema, Hepatic failure OMIM:210050
X-Linked Acrogigantism
Abnormality of the pituitary gland, Decreased thyroid-stimulating hormone level, Adrenocorticotro... ORPHA:300373
Congenital Hypothyroidism
Sinusitis, Abdominal distention, Constipation, Macroglossia, Tracheoesophageal fistula, Anterior ... ORPHA:442
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Dravet Syndrome
Progressive gait ataxia, Cyanotic episode ORPHA:33069
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Cleft palate, Hypoplasia of the corpus callosum, Polymicrogyria, Abnormal cerebral white matter m... ORPHA:500150
Combined Oxidative Phosphorylation Deficiency 3
Ataxia, Respiratory insufficiency, Death in childhood, Feeding difficulties in infancy, Respirato... OMIM:610505
Chylomicron Retention Disease
Abdominal distention, Steatorrhea, Diarrhea, Vomiting, Fat malabsorption, Impaired proprioception ORPHA:71
Al Amyloidosis
Abdominal distention, Macroglossia, Bruising susceptibility, Nonproductive cough, Xerostomia, Abn... ORPHA:85443
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Cer... ORPHA:801
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Anomalous pulmonary venous return, Tachypnea ORPHA:860
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Constipation, Gastroesophageal reflux, Recurrent infections due to aspiration, Diarrhea, Vomiting... OMIM:223900
Permanent Congenital Hypothyroidism
Abdominal distention, Constipation, Macroglossia, Feeding difficulties, Jaundice ORPHA:226292
Fryns Syndrome
Anal atresia, Duodenal atresia, Aganglionic megacolon, Chylothorax, Cleft palate, Intestinal malr... OMIM:229850
Mitchell-Riley Syndrome
Malabsorption, Duodenal atresia, Intestinal malrotation, Diarrhea, Anteriorly placed anus, Jejuna... OMIM:615710
Hydrocephalus, Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal... ORPHA:35107
Feeding difficulties in infancy, Respiratory insufficiency, Emphysema ORPHA:436
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Tarp Syndrome
Apnea, Cleft palate, Glossoptosis, Cyanosis, Abnormal duodenum morphology, Tongue nodules, Pulmon... ORPHA:2886
Graft Versus Host Disease
Recurrent gastroenteritis, Pulmonary infiltrates, Abdominal pain, Diarrhea, Vomiting, Stomatitis,... ORPHA:39812
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Intestinal atresia, Thin corpus callosum, Dysmetria, Inflammation of the large intestine,... OMIM:619708
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
High palate, Microcephaly, Cyanosis ORPHA:3304
Telangiectasia of the skin, Lung adenocarcinoma, Abnormal eosinophil morphology, Diffuse reticula... ORPHA:221
Wolman Disease
Abdominal distention, Steatorrhea, Hepatic failure, Esophageal varix, Malnutrition, Nausea and vo... ORPHA:75233
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Primary Hepatic Neuroendocrine Carcinoma
Neoplasm of the liver, Abdominal distention, Episodic abdominal pain, Anorexia, Diarrhea, Neoplas... ORPHA:100085
Criss-Cross Heart
Respiratory insufficiency, Feeding difficulties, Cyanosis ORPHA:1461
Poems Syndrome
Increased circulating prolactin concentration, Hyperesthesia, Pleural effusion, Restrictive venti... ORPHA:2905
Respiratory distress, Anorexia, Nonproductive cough, Peritonitis, Vomiting, Pneumothorax, Pleurit... ORPHA:31204
Unilateral Polymicrogyria
Perisylvian polymicrogyria, Apnea, Pseudobulbar paralysis, Microcephaly, Cyanosis, Cortical dyspl... ORPHA:268943
Anterior Cutaneous Nerve Entrapment Syndrome
Recurrent infection of the gastrointestinal tract, Abdominal distention, Abdominal pain, Anorexia... ORPHA:51890
Sarcoidosis, Susceptibility To, 1
Pulmonary infiltrates, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, An... OMIM:181000
Hereditary Bullous Dystrophy, Macular Type
Microcephaly, Acrocyanosis, Pneumonia ORPHA:1867
Mitochondrial Trifunctional Protein Deficiency
Poor suck, Respiratory insufficiency, Feeding difficulties in infancy, Chronic hepatic failure, R... ORPHA:746
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Decreased nasal nitric oxide, Duodenal atresia, Chronic sinusitis OMIM:619608
Thanatophoric Dysplasia
Hydrocephalus, Gray matter heterotopia ORPHA:2655
Atrial Septal Defect, Ostium Primum Type
Airway obstruction, Cyanosis, Abnormal respiratory system physiology, Tachypnea, Pulmonary artery... ORPHA:99106
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Diarrhea, Abdominal distention, Hematochezia ORPHA:103910
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Feeding difficulties, Respiratory insufficiency, Secondary microcephaly... OMIM:618329
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Anal atresia, Duodenal atresia, Cleft palate, Intestinal malrotation, Tracheoesophageal fistula, ... OMIM:265380
Epidermodysplasia Verruciformis, Susceptibility To, 4
Facial erythema, Stomatitis, Emphysema OMIM:618307
Granulomatosis With Polyangiitis
Pulmonary infiltrates, Sinusitis, Respiratory insufficiency, Hemosiderin-laden macrophages in bro... OMIM:608710
Primary Peritoneal Carcinoma
Abdominal distention, Constipation, Abdominal pain, Peritonitis, Nausea and vomiting ORPHA:168829
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Respiratory failure, Feeding difficulties OMIM:609015
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Malabsorption, Steatorrhea, Duodenal ulcer, Cutaneous photosensitivity, Chronic diarrhea ORPHA:3217
Dysostosis Multiplex, Ain-Naz Type
Thin corpus callosum, Abdominal distention OMIM:619345
Chronic Graft Versus Host Disease
Airway obstruction, Diarrhea, Erythema, Wheezing, Bronchiolitis obliterans, Abdominal pain, Anore... ORPHA:99921
Intellectual Developmental Disorder, Autosomal Dominant 53
Thick corpus callosum, Duodenal atresia, Intestinal malrotation, Microcephaly, Hyperintensity of ... OMIM:617798
Chand Syndrome
Atelectasis, Bifid tongue, Cleft palate, Ataxia ORPHA:1401
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Duodenal atresia, Tracheoesophageal fistula, Microcephaly, Spina bifida occulta, Esophageal atres... OMIM:619227
Joubert Syndrome 30