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