Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Upper airway obst... |
ORPHA:141152 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Death in infancy, Wide anterior fontanel, Death in childhood, Pulmonary arterial hypertension, Le... |
OMIM:619064 |
Perching Syndrome |
|
Respiratory distress, Cyanosis, High palate, Dysphagia |
OMIM:617055 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Micrognathia, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respirat... |
ORPHA:1832 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea, Dental crowding, Micrognathia, Narrow mouth, Dental malocclusion, Te... |
OMIM:614669 |
Gaba-Transaminase Deficiency |
|
Lethargy, Retrognathia, Death in childhood |
OMIM:613163 |
Orofacial Cleft 13 |
|
Oligodontia, Retrognathia, Cleft soft palate, Micrognathia |
OMIM:613857 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... |
ORPHA:2521 |
Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency, Cleft palate, Narrow mouth |
ORPHA:2901 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Death in infancy, Impulsivity, Aggressive behavior, Lethargy |
OMIM:605899 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Respiratory insufficiency, Cleft palate, Restrictive ventilatory defect, Re... |
OMIM:614399 |
Tetrasomy 5P |
|
Respiratory distress, Cyanosis, Micrognathia, Wide anterior fontanel, High palate, Long philtrum,... |
ORPHA:3309 |
Craniosynostosis 2 |
|
Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Metopic synostosi... |
OMIM:604757 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Wide anterior fontanel, Cleft palate, High p... |
OMIM:619736 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Thin upper lip vermilion, ... |
OMIM:615042 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Wide mouth, Widely spaced teeth, Micrognathia |
OMIM:300934 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy, Respiratory insufficiency, Death in childhood |
OMIM:618224 |
Potocki-Shaffer syndrome |
|
Delayed cranial suture closure |
DECIPHER:34 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Micrognathia, Asthma, Tachypnea, Pneumothorax, Cl... |
ORPHA:2257 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Micrognathia, Wide anterior fontanel, Abnormality of the elbow, Cleft palate, Flat acetabular roo... |
ORPHA:163649 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Micrognathia |
OMIM:300580 |
Pontocerebellar Hypoplasia, Type 6 |
|
Lethargy, Apnea, Narrow palate, Death in childhood |
OMIM:611523 |
Chromosome 16Q22 Deletion Syndrome |
|
Prominent metopic ridge, Micrognathia, Wide anterior fontanel, High palate, Wormian bones |
OMIM:614541 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To... |
ORPHA:2863 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Wormian bones, Dental crowding, Carious teeth, Wide anterior ... |
OMIM:269300 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Lethargy, Cyanosis |
ORPHA:71277 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Anorexia |
ORPHA:79283 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Micrognathia, Wide anterior fontanel, Pierre... |
OMIM:217980 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Micrognathia, Upper airway obstruction, High palate, Hypodontia, Narrow mou... |
OMIM:612776 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy, Abnormal repetitive mannerisms |
OMIM:616341 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Wide anterior fontanel, Delayed eruption of permanent teeth, Joint contracture ... |
OMIM:113000 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Macroglossia, Micrognathia |
ORPHA:1423 |
Hao-Fountain Syndrome |
|
Large fontanelles, Delayed cranial suture closure |
OMIM:616863 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Anorexia, Crackles, Nonproductive cough, ... |
ORPHA:1302 |
Oromandibular Dystonia |
|
Respiratory distress, Abnormality of the temporomandibular joint, Abnormal mandible morphology, B... |
ORPHA:93958 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Lethargy, Respiratory insufficiency due to muscle weakness, Dysphagia |
OMIM:613561 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Micrognathia, Cleft hard palate, Knee flexion contracture, Genu valgum, Fixed elbow flexion, Disl... |
ORPHA:166016 |
Early Myoclonic Encephalopathy |
|
Lethargy, Dysphagia |
ORPHA:1935 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Lethargy |
ORPHA:26792 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Respiratory distress, Cyanosis, Rectal prolapse, Hypoplastic facial bones |
OMIM:619793 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Wide anterior fontanel |
OMIM:601356 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... |
ORPHA:36238 |
Coffin-Siris Syndrome 11 |
|
Prominent metopic ridge, Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide... |
OMIM:618779 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Mandibular prognathia, Prominent metopic ridge, Short philtrum, Cleft palate |
ORPHA:85317 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Hyperactivity |
OMIM:274270 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Joint dislocation, Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Abn... |
ORPHA:3201 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Apnea |
OMIM:610992 |
Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy, Sinusitis, Cough |
ORPHA:163703 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Respiratory distress, Retrognathia, Dentinogenesis i... |
ORPHA:166272 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Lethargy, Aggressive behavior |
OMIM:237310 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... |
ORPHA:98913 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Obtuse angle of mandible, Micrognathia, Wide anterior fontanel, High palate, Wormian bones |
ORPHA:85184 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Auriculocondylar Syndrome |
|
Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of t... |
ORPHA:137888 |
Glut1 Deficiency Syndrome 1 |
|
Lethargy, Paroxysmal lethargy |
OMIM:606777 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Congenital Myasthenic Syndrome |
|
Microretrognathia, Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insuffic... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Microretrognathia, Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insuffic... |
ORPHA:98914 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Neuromuscular dysphagia, Depression, Bradykinesia, Apathy |
ORPHA:240085 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte... |
OMIM:619751 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
Severe Canavan Disease |
|
Lethargy, Oral-pharyngeal dysphagia |
ORPHA:314911 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Birk-Barel Syndrome |
|
Microretrognathia, Reduced subcutaneous adipose tissue, Tented upper lip vermilion, High palate, ... |
OMIM:612292 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Large posterior fontanelle, Abnormal dental morphology, Abnormal dental enamel morphology, Tarsal... |
ORPHA:85199 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Lethargy, Apnea, Death in childhood |
OMIM:618225 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Micrognathia, High, narrow palate, Dyspnea, Wide mouth, Abnormal upper lip ... |
ORPHA:2707 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Death in childhood |
OMIM:618683 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Gomez-Lopez-Hernandez Syndrome |
|
Craniosynostosis, Wide anterior fontanel, Thin vermilion border, High palate, Wormian bones, Smoo... |
OMIM:601853 |
Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth, Lethargy |
OMIM:617105 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, High palate, Lethargy, Inspiratory stridor, Irregular res... |
OMIM:604377 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Lethargy, Respiratory failure, Anorexia, Death in infancy |
OMIM:619386 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Tongue fasciculations, Respiratory insufficiency |
ORPHA:238329 |
High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Anorexia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Wide anterior fontanel, Jaundice, Neonatal death |
OMIM:231680 |
Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Micrognathia, Cleft palate, Neonatal death, Retrognathia |
OMIM:615524 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Macroglossia, High pala... |
ORPHA:254864 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Lethargy, Apnea, Respiratory insufficiency, Dysphagia |
OMIM:618226 |
Pyruvate Dehydrogenase Deficiency |
|
Dyspnea, Tachypnea, High palate, Long philtrum, Lethargy |
ORPHA:765 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Wide anterior fontanel, Respiratory failure, Neonatal death,... |
OMIM:616482 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Tongue nodules, Downtur... |
OMIM:620107 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy |
ORPHA:622 |
Grant Syndrome |
|
Joint dislocation, Micrognathia, Open bite, Large fontanelles, Wormian bones, Abnormal palate mor... |
ORPHA:2097 |
Parietal Foramina 1 |
|
Wormian bones, Cleft palate, Cleft upper lip |
OMIM:168500 |
Coffin-Siris Syndrome 6 |
|
Micrognathia, High, narrow palate, Deep philtrum, Cleft palate, Short philtrum, Wormian bones, Re... |
OMIM:617808 |
Lethal Infantile Mitochondrial Myopathy |
|
Lethargy, Neonatal respiratory distress |
ORPHA:254857 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Aggressive behavior, Wide anterior fontanel, Pyloric stenosis, Submucou... |
ORPHA:457279 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy |
ORPHA:26 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Lethargy, Respiratory failure, Long philtrum, Apneic episodes precipitated by illness, fatigue, s... |
OMIM:312170 |
Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Synovitis, Popl... |
OMIM:601492 |
Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
Developmental And Epileptic Encephalopathy 40 |
|
Lethargy |
OMIM:617065 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Macroglossia, Wormian bones, Congenital hip dislocation |
OMIM:614450 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia, Micrognathia, Aglossia, Cleft palate, Narrow mouth, Mandibu... |
OMIM:202650 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Lethargy, Tachypnea, Pulmonary arterial hypertension, Micrognathia |
OMIM:614857 |
Grant Syndrome |
|
Wormian bones, Micrognathia |
OMIM:138930 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Thin vermilion border, Short philtrum, Micrognathia |
ORPHA:261304 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Micrognathia, High, narrow palate, Telangiectasia, Smooth philtrum |
OMIM:608799 |
1p36 microdeletion syndrome |
|
Delayed cranial suture closure |
DECIPHER:18 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, High palate, Neonatal death, Retrognathia |
OMIM:300219 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy, Apnea, Respiratory insufficiency |
OMIM:618228 |
Moebius Syndrome |
|
Respiratory distress, Micrognathia, Abnormality of the dentition, High palate, Dysphagia, Bifid u... |
OMIM:157900 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Lethargy |
OMIM:610498 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Cyanosis, Cough, Dyspnea, Stridor, Choking episodes, Impaired orop... |
ORPHA:2004 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Micrognathia |
ORPHA:1143 |
Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... |
ORPHA:2302 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Death in infancy, Micrognathia, Wide anterior fontanel, Jaundice, Cleft palate, Death in adolesce... |
OMIM:614866 |
8Q22.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Abnormality of the dentition, Hypoplasia of the maxill... |
ORPHA:178303 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Wormian bones, Dentinogenesis... |
OMIM:613849 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones |
ORPHA:2773 |
Benign Samaritan Congenital Myopathy |
|
Lethargy, Abnormal respiratory system physiology, Narrow mouth |
ORPHA:324581 |
Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Cleft soft palate, Smooth philtrum, Micrognathia |
OMIM:614526 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Micrognathia, Wide anterior fontanel, Wormian bones, Dentinogenesis imperfecta |
OMIM:259420 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Idiopathic Congenital Hypothyroidism |
|
Macroglossia, Lethargy, Prolonged neonatal jaundice |
ORPHA:95717 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure... |
OMIM:614299 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Lethargy, Death in childhood |
OMIM:246900 |
Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Cough, Dysphagia |
ORPHA:77260 |
Osteogenesis Imperfecta, Type Iv |
|
Wormian bones, Otosclerosis, Dentinogenesis imperfecta |
OMIM:166220 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough |
OMIM:263000 |
Dihydropyrimidinase Deficiency |
|
Lethargy, Anal atresia |
OMIM:222748 |
Lowry-Maclean Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, ... |
ORPHA:2409 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Bifid uvula, Cleft palate, Micrognathia |
OMIM:606164 |
Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Submucous cl... |
OMIM:613805 |
Evans Syndrome |
|
Epistaxis, Dyspnea, Jaundice, Lethargy, Bruising susceptibility, Petechiae |
ORPHA:1959 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Everted upper lip vermilion, Apnea, Micrognathia, Narrow mouth, Apathy, Eve... |
OMIM:608013 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Central Diabetes Insipidus |
|
Lethargy, Polydipsia, Anorexia, Depression |
ORPHA:178029 |
Hyperlysinuria With Hyperammonemia |
|
Lethargy, Malabsorption |
OMIM:238750 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Dysphagia, Cough, Pleural ... |
ORPHA:50251 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Lethargy, Anorexia |
ORPHA:79312 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Respiratory distress, Dysphagia |
ORPHA:89844 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Metopic suture patent to nasal root, Premature posterior fontanelle closure, Multiple suture cran... |
ORPHA:3369 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Micrognathia, Abnormality of the de... |
OMIM:616331 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Submucous cleft ... |
ORPHA:2712 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Large fontanelles, Unilateral cleft lip, Abnormality of the wrist, Delayed... |
ORPHA:2511 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, High palate, Pneumonia |
ORPHA:596 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Tented upper lip vermilion, Apnea, Micrognathia, Deep phil... |
ORPHA:314655 |
Frontofacionasal Dysplasia |
|
Cleft upper lip, Orofacial cleft, Malar flattening, Bifid uvula, Hypoplasia of the frontal bone |
OMIM:229400 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy |
OMIM:617900 |
Ogden Syndrome |
|
Microretrognathia, High, narrow palate, Everted upper lip vermilion, Lethargy |
ORPHA:276432 |
Cree Mental Retardation Syndrome |
|
Large fontanelles, Cleft soft palate, Micrognathia |
OMIM:606851 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Lethargy, Breathing dysregulation, Hypoventilation |
OMIM:618232 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... |
ORPHA:2414 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy |
OMIM:613002 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Mandibular prognathia, Respiratory distress, Death in infancy, Death in childhood, Respiratory fa... |
OMIM:620278 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Lethargy, Agitation, Abnormal repetitive mannerisms |
ORPHA:927 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Cyanosis, High palate, Micrognathia |
ORPHA:3304 |
Hereditary Methemoglobinemia |
|
Lip discoloration, Cyanosis, Exertional dyspnea |
ORPHA:621 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... |
OMIM:617412 |
Dysostosis, Stanescu Type |
|
Persistent open anterior fontanelle, Abnormal dental enamel morphology, Abnormality of the dentit... |
ORPHA:1798 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Lethargy, Agitation |
ORPHA:276608 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea, Impulsivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Attention... |
OMIM:619580 |
Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,... |
OMIM:252100 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode, Micrognathia |
ORPHA:284417 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Cleft soft palate, Micrognathia, Abnormality of the dentition, Gingival overgrowth, Long philtrum... |
OMIM:618529 |
Cyclic Vomiting Syndrome |
|
Lethargy, Attention deficit hyperactivity disorder, Anorexia |
OMIM:500007 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress |
OMIM:615993 |
Six2-Related Frontonasal Dysplasia |
|
Metopic synostosis, Wide anterior fontanel, Prominent palatine ridges, Premature posterior fontan... |
ORPHA:488437 |
Isolated Exencephaly |
|
Abnormal facial skeleton morphology, Hypoplasia of the frontal bone |
ORPHA:563612 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the knee, Cleft soft palate, Micrognathia, Genu valgum, Irregular acetabular roof,... |
ORPHA:93316 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, Large ... |
ORPHA:2780 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration, High palate |
OMIM:620011 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Lethargy, Agitation, Polyphagia |
ORPHA:276556 |
Diaphanospondylodysostosis |
|
Respiratory distress, Cleft palate |
ORPHA:66637 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... |
OMIM:610921 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Wide cranial sutures, Tented upper lip vermilion, Micrognathia, Hypoplasia o... |
OMIM:601390 |
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies |
|
Mandibular prognathia, High, narrow palate, Thick vermilion border, Everted lower lip vermilion, ... |
OMIM:619880 |
Amish Lethal Microcephaly |
|
Death in infancy, Cleft soft palate, Micrognathia |
ORPHA:99742 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Wide cranial sutures, High palate, Lambdoidal craniosynostosis, Wormian bones,... |
OMIM:616294 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Apneic episodes in infancy |
OMIM:610006 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion,... |
ORPHA:329178 |
Synaptic Congenital Myasthenic Syndromes |
|
Mandibular prognathia, Hypoventilation, Respiratory distress, Neonatal respiratory distress, Resp... |
ORPHA:98915 |
Osteogenesis Imperfecta, Type V |
|
Wormian bones, Anterior radial head dislocation, Dentinogenesis imperfecta, Limited pronation/sup... |
OMIM:610967 |
Pycnodysostosis |
|
Persistent open anterior fontanelle, Delayed eruption of primary teeth, Persistence of primary te... |
OMIM:265800 |
Hydrolethalus |
|
Micrognathia, Submucous cleft hard palate, Gingival cleft, Cleft palate, Unilateral cleft lip, Re... |
ORPHA:2189 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Death in infancy, Respiratory distress, Long philtrum, Dentinogenesis ... |
OMIM:184260 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Wormian bones, Dentinogenesis imperfecta |
ORPHA:166277 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, C... |
OMIM:114300 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Lethargy, Agitation, Polyphagia |
ORPHA:276575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Lethargy, Agitation, Polyphagia |
ORPHA:276580 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Lethargy, Respiratory insufficiency |
ORPHA:28 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Lethargy, Agitation, Polyphagia |
ORPHA:324575 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Polydipsia |
ORPHA:30925 |
Orofaciodigital Syndrome Type 10 |
|
Cleft soft palate, Accessory oral frenulum, Micrognathia, Tarsal synostosis, Long philtrum, Metat... |
ORPHA:2756 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Bradykinesia, Respiratory distress, Dysphagia |
ORPHA:240103 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Dyspnea... |
OMIM:211530 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Submucous cleft hard palate, Thick lower lip vermilion, Head-banging, Wide... |
OMIM:619103 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Lethargy, Tachypnea, Anorexia |
ORPHA:79242 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Respiratory failure, Stillbirth, Tongue fasciculations, Death in childhood, Neo... |
OMIM:614922 |
Heart And Brain Malformation Syndrome |
|
Prominent metopic ridge, Camptodactyly of finger, Wide anterior fontanel, Cleft lip, Thick lower ... |
OMIM:616920 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Carious teeth, Thick vermilion border, Widely spaced teeth, Respiratory distress |
OMIM:617102 |
Thyroid Dyshormonogenesis 1 |
|
Macroglossia, Lethargy |
OMIM:274400 |
Fibrochondrogenesis 1 |
|
Wide anterior fontanel, Narrow mouth, Cleft palate, Widely patent coronal suture, Stillbirth, Lon... |
OMIM:228520 |
Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Delayed eruption of primary teeth,... |
ORPHA:763 |
Osteogenesis Imperfecta, Type I |
|
Wormian bones, Otosclerosis, Dentinogenesis imperfecta |
OMIM:166200 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Lethargy |
ORPHA:289916 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Lethargy |
ORPHA:101150 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Thin upper lip vermilion, Long philtrum |
OMIM:614741 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Cutis marmorata, Micrognathia, Malabsorption, Wide ante... |
ORPHA:235 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Wormian bones |
ORPHA:2787 |
Choanal Atresia |
|
Respiratory distress, Cyanosis, Upper airway obstruction, Choking episodes, Tracheomalacia, Chron... |
ORPHA:137914 |
Classic Galactosemia |
|
Lethargy, Jaundice, Attention deficit hyperactivity disorder, Depression |
ORPHA:79239 |
Schilbach-Rott Syndrome |
|
Micrognathia, Submucous cleft hard palate, Attention deficit hyperactivity disorder, Narrow mouth... |
OMIM:164220 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Hypoplasia of the maxilla, Cleft palate, Aplasia/Hypoplasia of the frontal sinuses, Hypoplasia of... |
ORPHA:306542 |
Otosclerosis 8 |
|
Otosclerosis |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis |
OMIM:608244 |
Antley-Bixler Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Narrow mouth, Cleft palate, Hypoplasia of the zygomati... |
ORPHA:83 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Swollen lip, Angioedema, Erythema, Upper airway obstruction, ... |
ORPHA:100057 |
Tetanus |
|
Respiratory distress, Trismus, Tachypnea, Dysphagia |
ORPHA:3299 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Lethargy, Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy, Anorexia |
ORPHA:49827 |
Radio-Renal Syndrome |
|
Respiratory distress, Micrognathia, High, narrow palate, Dyspnea, Downturned corners of mouth, Re... |
ORPHA:3015 |
Orofaciodigital Syndrome Xvii |
|
High, narrow palate, Prominent metopic ridge, Retrognathia, Median cleft lip |
OMIM:617926 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... |
OMIM:610913 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, High palate, Short ph... |
OMIM:620001 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... |
OMIM:265120 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Thin upper lip vermilion, Micrognathia, Carious teeth, Alveolar ridge overg... |
ORPHA:177907 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Intestinal edema, Abnormal soft palate morphology, Dyspnea, U... |
ORPHA:100050 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure... |
OMIM:605711 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Persistent open anterior fontanelle, Congenital hip dislocation, Wide anterior fontanel, Long phi... |
ORPHA:357058 |
Multifocal Atrial Tachycardia |
|
Dyspnea, Lethargy, Tachypnea |
ORPHA:3282 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Death in infancy, Necrotizing enterocolitis, Respiratory arrest, Tachypnea, Lethargy |
OMIM:201475 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Wide cranial sutures, Dental crowding, Micrognathia, Hypoplasia of the... |
OMIM:257850 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Lethargy, Dysphagia |
OMIM:233910 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Dyspnea, Res... |
ORPHA:2759 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Neonatal respiratory distress, Apnea, Narrow palate, Respiratory insufficiency,... |
OMIM:608836 |
Double Outlet Right Ventricle |
|
Cyanosis, Intestinal malrotation, Submucous cleft hard palate, Tachypnea, Cleft palate, Narrow mouth |
ORPHA:3426 |
Crigler-Najjar Syndrome |
|
Lethargy, Jaundice |
ORPHA:205 |
Silver-Russell Syndrome 2 |
|
Downturned corners of mouth, Delayed closure of the anterior fontanelle, Micrognathia |
OMIM:618905 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Trismus, Submucous cleft hard palate, Branchial fistula |
OMIM:609166 |
Potocki-Shaffer Syndrome |
|
Downturned corners of mouth, Wormian bones, Short philtrum |
OMIM:601224 |
Acute Interstitial Pneumonia |
|
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... |
ORPHA:79126 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Hy... |
ORPHA:264675 |
W Syndrome |
|
Elbow dislocation, Submucous cleft hard palate, Agenesis of maxillary central incisor, Cubitus va... |
ORPHA:2804 |
Familial Thyroid Dyshormonogenesis |
|
Macroglossia, Lethargy, Prolonged neonatal jaundice |
ORPHA:95716 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, High palate, Tongue fasciculations, Respiratory insufficiency |
ORPHA:1145 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Tracheoesophageal fistula, Dysphagia, Upper airway obstruction, St... |
ORPHA:142 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy |
OMIM:603896 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Delayed closure of the anterior fontanelle, ... |
OMIM:607812 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Prominent metopic ridge, Tented upper lip vermilion, Exaggerate... |
OMIM:608670 |
Hartsfield Syndrome |
|
Cleft palate, Median cleft lip, Hypoplasia of the frontal bone, Cleft upper lip |
OMIM:615465 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis, Dysphagia |
OMIM:150260 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Micrognathia, Esophageal atresia, Deep philtrum, Cleft palate, Malar flatte... |
OMIM:610536 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Crackles, Dyspnea, Asthma, Wheezing, Bronchiectasis, Chronic cough, Pul... |
OMIM:620233 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Dental crowding, Micrognathia, Hypoplasia of teeth, High palate, Narrow... |
OMIM:608612 |
Meningococcal Meningitis |
|
Neonatal respiratory distress, Anorexia, Lethargy, Petechiae, Purpura |
ORPHA:33475 |
Osteogenesis Imperfecta, Type Ix |
|
Wormian bones, Dentinogenesis imperfecta |
OMIM:259440 |
Esophageal Atresia |
|
Respiratory distress, Barrett esophagus, Cyanosis, Intestinal malrotation, Pyloric stenosis, Clef... |
ORPHA:1199 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short phi... |
OMIM:619950 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Frontal open bite, Micrognathia, Delayed closure of the anterior fontanelle, Wide anterior fontan... |
OMIM:225410 |
Stickler Syndrome, Type I |
|
Arthropathy, Micrognathia, Osteoarthritis, Pierre-Robin sequence, Submucous cleft hard palate, Cl... |
OMIM:108300 |
Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Smooth philtrum, Tented upper lip vermilion, Cleft soft pala... |
OMIM:615582 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primar... |
ORPHA:438216 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Lethargy |
OMIM:212140 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Cleft palate, Narrow palate, Anteriorly placed anus, Tooth agenesis, Hypopl... |
ORPHA:1555 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... |
ORPHA:884 |
Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Open mouth, Dental malocclusion, Wide cranial sutures |
OMIM:619149 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Wide cranial sutures, Tented upper lip vermilion, Micrognathia, Hypoplasia o... |
OMIM:615546 |
Dengue Fever |
|
Epistaxis, Cardiorespiratory arrest, Gingival bleeding, Lethargy, Bruising susceptibility, Petechiae |
ORPHA:99828 |
Hemochromatosis, Type 2A |
|
Lethargy |
OMIM:602390 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Mandibular aplasia, Microglossia, Respiratory distress, Narrow mouth |
ORPHA:990 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia... |
ORPHA:1452 |
Cole-Carpenter Syndrome 1 |
|
Wormian bones, Micrognathia, Microdontia, Coronal craniosynostosis, Dentinogenesis imperfecta, Or... |
OMIM:112240 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Dyspnea, Subm... |
ORPHA:2554 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Apnea, Hamartoma of tongue, Micrognathia, Submucous cleft soft pal... |
ORPHA:2751 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Lethargy |
ORPHA:254913 |
Riboflavin Deficiency |
|
Lethargy |
OMIM:615026 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al... |
ORPHA:178320 |
Pachyonychia Congenita |
|
Respiratory distress, Natal tooth, Angular cheilitis, Advanced eruption of teeth, Oral leukoplakia |
ORPHA:2309 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance |
OMIM:619466 |
Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
Campomelic Dysplasia |
|
Respiratory distress, Irregular dentition, Neonatal respiratory distress, Apnea, Micrognathia, Ca... |
OMIM:114290 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Episodic tachypnea, Pneumonia, Jaundice, Tachypnea, Anteriorly placed anus,... |
ORPHA:26793 |
Idiopathic Intracranial Hypertension |
|
Lethargy, Depression |
ORPHA:238624 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Exertional dyspnea |
ORPHA:42 |
Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Tented upper lip vermilion, Narrow palate, Agenesis of permanent teeth, Hi... |
OMIM:618644 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... |
OMIM:610910 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Wormian bones, Stillbirth |
OMIM:259410 |
Congenital Tracheomalacia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... |
ORPHA:95430 |
Propionic Acidemia |
|
Lethargy, Tachypnea, Apnea |
OMIM:606054 |
Hjv Or Hamp-Related Hemochromatosis |
|
Lethargy |
ORPHA:79230 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Unilateral cleft palate, Submucous cleft hard palate, Unilateral cleft lip, Micrognathia |
OMIM:619122 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Cutis marmorata, Intestinal malrotation, Velopharyngeal insufficiency, ... |
OMIM:614701 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Large fontanelles, Submucous cleft hard palate, High palate, Micrognathia |
OMIM:222765 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Tented upper lip vermilion, Thick vermilion border, High palate, Attention ... |
OMIM:619383 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Natal tooth, Gingival overgrowth, Narrow palate, Anteriorly placed anus, Hi... |
OMIM:123790 |
Diaphanospondylodysostosis |
|
Respiratory distress, Micrognathia, Respiratory insufficiency, Cleft palate, Tracheomalacia |
OMIM:608022 |
Typhoid |
|
Lethargy, Epistaxis, Cough |
ORPHA:99745 |
Citrullinemia Type I |
|
Lethargy, Tachypnea |
ORPHA:247525 |
Dravet Syndrome |
|
Bradykinesia, Obsessive-compulsive trait, Cyanotic episode, Impulsivity |
ORPHA:33069 |
Tarp Syndrome |
|
Cyanosis, Apnea, Micrognathia, Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Gl... |
ORPHA:2886 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Osteogenesis Imperfecta, Type Xxii |
|
Wormian bones, Dentinogenesis imperfecta |
OMIM:619795 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Cyanosis, Paroxysmal bursts of laughter, Dysphagia |
ORPHA:391428 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Retrognathia, Short philtrum, Cleft soft palate, Smooth philtrum |
ORPHA:293725 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Lethargy |
OMIM:236270 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
Sweeney-Cox Syndrome |
|
Prominent metopic ridge, Micrognathia, Wide anterior fontanel, Velopharyngeal insufficiency, High... |
OMIM:617746 |
Scrub Typhus |
|
Dyspnea, Lethargy, Restrictive ventilatory defect, Cough |
ORPHA:83317 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Thin upper lip vermilion, High, narrow palate, Submucous cleft hard palate,... |
OMIM:612863 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi... |
ORPHA:1071 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Respiratory insufficiency, Lethargy, Pleural effusion, Petec... |
OMIM:617397 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Neonatal respiratory distress, Cleft soft palate, Micrognathia, Carious teeth, Cle... |
OMIM:117650 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Lethargy, Respiratory insufficiency |
ORPHA:27 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy |
OMIM:618120 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy, Respiratory arrest |
OMIM:600649 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
Osteogenesis Imperfecta, Type Vii |
|
Death in infancy, Wide cranial sutures, Protrusio acetabuli, Wide anterior fontanel, Long philtru... |
OMIM:610682 |
Nipah Virus Disease |
|
Respiratory distress, Anorexia, Cough |
ORPHA:99825 |
Gapo Syndrome |
|
Delayed closure of the anterior fontanelle, Micrognathia, Wide anterior fontanel, High, narrow pa... |
OMIM:230740 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Submucous cleft hard palate, Bifid uvula |
OMIM:619239 |
Congenital Heart Block |
|
Pleural effusion, Cyanosis, Crackles |
ORPHA:60041 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... |
ORPHA:1329 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Limited elbow movement, Sagittal craniosynostos... |
OMIM:101200 |
Craniosynostosis 4 |
|
Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Metopic synostosis, Corona... |
OMIM:600775 |
Alobar Holoprosencephaly |
|
Central apnea, Median cleft lip, Abnormal pattern of respiration, Cleft palate, Depression, High ... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Median cleft lip, Abnormal pattern of respiration, Cleft palate, Depression, High ... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Median cleft lip, Abnormal pattern of respiration, Cleft palate, Depression, High ... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Central apnea, Median cleft lip, Abnormal pattern of respiration, Cleft palate, Depression, High ... |
ORPHA:220386 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Dyspnea, Lethargy, Apnea, Hyperventilation |
OMIM:229700 |
Otosclerosis 1 |
|
Otosclerosis |
OMIM:166800 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Cleft soft palate, Micrognathia, Hypoxemia, Submucous cleft soft palate, Pulmonary arterial hyper... |
ORPHA:2282 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Lethargy |
OMIM:250620 |
Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Hiatus hernia, Aggressive behavior, Wide mouth, Self-injurious behavior, S... |
ORPHA:2896 |
Central Neurocytoma |
|
Lethargy, Depression |
ORPHA:73256 |
Meckel Syndrome 14 |
|
Microretrognathia, Cyanosis, Micrognathia, Pneumothorax, Cardiorespiratory arrest, Retrognathia |
OMIM:619879 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... |
OMIM:610978 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Cyanosis, Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Thin upper lip vermilion, Recurrent pneumonia, Short philtrum, Lethargy |
OMIM:607143 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Hip contracture, Wide cranial sutures, Interphalangeal joint contractu... |
OMIM:259600 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Tracheoesophageal fistula, High palate, Stomatitis, Lethargy, Glossitis |
OMIM:277380 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Lethargy |
ORPHA:2394 |
Native American Myopathy |
|
Micrognathia, Cleft palate, Respiratory insufficiency, Downturned corners of mouth, High palate, ... |
ORPHA:168572 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Thin upper lip vermilion, Xerostomia, Downturned corners of mouth, Skin-picking, Abnormal temper ... |
ORPHA:398079 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth... |
OMIM:305100 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Silver-Russell Syndrome 1 |
|
Downturned corners of mouth, Delayed cranial suture closure, Micrognathia |
OMIM:180860 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Intestinal malrotation, Respiratory distress |
ORPHA:2140 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Respiratory distress, Aganglionic megacolon, Micrognathia, Wide anteri... |
ORPHA:798 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Narrow mou... |
ORPHA:1051 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis |
ORPHA:444013 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Thin upper lip vermilion, Impulsivity, Xerostomia, Downturned corners of mouth, Abnormal temper t... |
ORPHA:398069 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Prominent superficial veins, Pyloric stenosis, Dyspnea, Gingival overgrowth... |
ORPHA:363705 |
Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Enterocolitis, Abnorm... |
ORPHA:90051 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Gingival bleeding, Volvulus, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Lethargy, Anorexia |
OMIM:611590 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Lethargy |
OMIM:238970 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Lethargy, Glossitis, Cleft palate |
ORPHA:79284 |
Cdags Syndrome |
|
Delayed cranial suture closure, Sagittal craniosynostosis, Rectourethral fistula, Large fontanell... |
OMIM:603116 |
Insulinoma |
|
Lethargy, Polyphagia |
ORPHA:97279 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cough |
ORPHA:86812 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Tented upper lip vermilion, Dental crowding, Micrognathia, Triangular mouth... |
OMIM:620369 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Micrognathia, Pyloric stenosis, Recurrent pneumonia, Death in childhood, Ma... |
OMIM:613848 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress, Delayed eruption of primary teeth, Micrognat... |
OMIM:119600 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Trichinellosis |
|
Trismus, Apathy, Lethargy, Dysphagia |
ORPHA:863 |
Susac Syndrome |
|
Lethargy, Apathy |
ORPHA:838 |
Mandibuloacral Dysplasia |
|
Dental crowding, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, High palate, Dela... |
ORPHA:2457 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Macroglossia, Prolonged neonatal jaundice |
ORPHA:226313 |
Lateral Meningocele Syndrome |
|
Prominent metopic ridge, Dental crowding, Micrognathia, High, narrow palate, High palate, Wormian... |
ORPHA:2789 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Wormian bones, Unilateral cleft lip, Cleft palate, Micrognathia |
OMIM:616897 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Thin upper lip vermilion, Hyperactivity, Dental crowding, Impulsivity, Micr... |
OMIM:180849 |
Saethre-Chotzen Syndrome |
|
Proximal radio-ulnar synostosis, Craniosynostosis, Hypoplasia of the maxilla, Open bite, Narrow p... |
ORPHA:794 |
Restrictive Dermopathy 1 |
|
Natal tooth, Prominent superficial blood vessels, Micrognathia, Wide anterior fontanel, Submucous... |
OMIM:275210 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Unilateral cleft palate, Craniosynostosis, Abnormality of the dentition, H... |
ORPHA:1299 |
Tularemia |
|
Respiratory distress, Pneumonia, Oral ulcer, Cough, Pleural effusion |
ORPHA:3392 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia |
ORPHA:97285 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Delayed cranial suture closure, Micrognathia |
ORPHA:1129 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Gingival cleft, Cl... |
ORPHA:2588 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea, High palate, Retrognathia |
ORPHA:79330 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Malar flattening, Cleft palate, Micrognathia |
OMIM:613309 |
Greig Cephalopolysyndactyly Syndrome |
|
Craniosynostosis, Joint contracture of the hand, Delayed cranial suture closure, Metopic synostosis |
OMIM:175700 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Infantile Liver Failure Syndrome 2 |
|
Lethargy, Jaundice |
OMIM:616483 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Lethargy |
OMIM:251000 |
Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Abnormal eating behavior, Aggressive behavior, Lethargy, Mania |
ORPHA:247585 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Restlessness, Hypodontia |
ORPHA:544503 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Apnea, Anorexia, Jaundice, Tachypnea, Apathy, Lethargy |
ORPHA:20 |
1Q44 Microdeletion Syndrome |
|
Prominent metopic ridge, Exaggerated cupid's bow, Intestinal malrotation, Micrognathia, Thin verm... |
ORPHA:238769 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate |
OMIM:620183 |
Cirrhosis, Familial |
|
Lethargy, Jaundice, Esophageal varix, Pulmonary arterial hypertension |
OMIM:215600 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Wormian bones, Abnormality of the knee, Abnormality of the ankle |
ORPHA:970 |
Chiari Malformation Type Ii |
|
Cyanosis, Inspiratory stridor, Dysphagia |
OMIM:207950 |
Glutaric Acidemia Type 3 |
|
Lethargy, Impulsivity |
ORPHA:35706 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Fused cervical verteb... |
OMIM:619227 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, High... |
OMIM:220110 |
Marbach-Rustad Progeroid Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Eruption failure, Hypodontia, Narrow mouth, Worm... |
OMIM:619322 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO |
ORPHA:747 |
Craniosynostosis 6 |
|
Bicoronal synostosis, Craniosynostosis, Delayed cranial suture closure, Right unilambdoid synostosis |
OMIM:616602 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, High palate |
OMIM:619272 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Deep philtrum, Large fontanelles, Flat acetabular roof, Death in childhood, Wor... |
OMIM:613320 |
Opitz-Kaveggia Syndrome |
|
Anal stenosis, Dental crowding, Intestinal malrotation, Delayed closure of the anterior fontanell... |
OMIM:305450 |
Cholera |
|
Miscarriage, Tachypnea, Aspiration pneumonia, Palmoplantar cutis laxa, Lethargy, Hyperventilation |
ORPHA:173 |
Frank-Ter Haar Syndrome |
|
Thin upper lip vermilion, Micrognathia, Wide anterior fontanel, Dental malocclusion, Gingival ove... |
OMIM:249420 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Hi... |
OMIM:224690 |
Ebola Hemorrhagic Fever |
|
Cough, Lethargy, Dyspnea, Dysphagia |
ORPHA:319218 |
Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormalit... |
ORPHA:2753 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Thin upper lip vermilion, Vertebral fusion, Tented upper lip vermilion, Dental crowding, Delayed ... |
OMIM:268310 |
Hypercalcemia, Infantile, 1 |
|
Lethargy |
OMIM:143880 |
Buratti-Harel Syndrome |
|
Velopharyngeal insufficiency, Submucous cleft hard palate, Recurrent pneumonia, High palate, Bifi... |
OMIM:619314 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Death in childhood, Lethargy, Erythema, Aggressive behavior |
OMIM:618321 |
Adnp Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Aggressive behavior, Oral-pharyngeal dysphagia, T... |
ORPHA:404448 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Pierre-Robin sequence, Cleft palate, Restrictive ventilatory defect, Malar ... |
OMIM:183900 |
Otosclerosis 4 |
|
Otosclerosis |
OMIM:611571 |
Isovaleric Acidemia |
|
Lethargy |
OMIM:243500 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Jaundice, Pulmonary arterial hypertension, Stomatitis, ... |
ORPHA:79282 |
Tenorio Syndrome |
|
Mandibular prognathia, Wide mouth, Macroglossia, Recurrent aphthous stomatitis, Delayed cranial s... |
OMIM:616260 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Lethargy, Tongue thrusting, Apnea, Cardiorespiratory arrest |
OMIM:608643 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Carious teeth, Delayed cranial suture closure |
ORPHA:93324 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
Velocardiofacial Syndrome |
|
Aggressive behavior, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequ... |
OMIM:192430 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa... |
OMIM:300990 |
Kniest Dysplasia |
|
Respiratory distress, Malar flattening, Tracheomalacia, Cleft palate |
OMIM:156550 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Aggressive behavior, Submucous cleft hard palate, Downturned corners of... |
OMIM:619680 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Tachypnea, Cleft palate, Cough, Lethargy |
ORPHA:137675 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Osteogenesis Imperfecta, Type Xviii |
|
Wormian bones, Abnormality of the dentition, Micrognathia |
OMIM:617952 |
Osteogenesis Imperfecta, Type Viii |
|
Wormian bones, Wide anterior fontanel, Dentinogenesis imperfecta |
OMIM:610915 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Lethargy, Agitation |
ORPHA:263455 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Lethargy, Apnea |
OMIM:210200 |
White-Sutton Syndrome |
|
Mandibular prognathia, Micrognathia, Cleft palate, Downturned corners of mouth, Thin vermilion bo... |
OMIM:616364 |
Genetic Transient Congenital Hypothyroidism |
|
Macroglossia, Lethargy, Prolonged neonatal jaundice |
ORPHA:226316 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Dental crowding, Micrognathia, Cleft palate, High palate, Long philtrum, Wormia... |
OMIM:130720 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Intestinal obstruction, Sinusitis, Cutis marmorata, Malabsorption, Cough, Asthma, Respiratory ins... |
ORPHA:183 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Trismus, Recurrent pneumonia, Micrognathia |
OMIM:616271 |
Osteogenesis Imperfecta, Type Xiii |
|
Dentinogenesis imperfecta, Thin vermilion border, Long philtrum, Wormian bones, Limitation of kne... |
OMIM:614856 |
Posterior Urethral Valve |
|
Lethargy, Retrognathia |
ORPHA:93110 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent metopic ridge, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of cani... |
ORPHA:364577 |
Slc35A1-Cdg |
|
Hypoxemia, Pneumonia, Respiratory distress, Subcutaneous hemorrhage |
ORPHA:238459 |
Immunodeficiency 49 |
|
Wormian bones, Natal tooth, Short philtrum, Micrognathia |
OMIM:617237 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Depression, Macroglossia, Attention deficit hyperactivity disorder, Prolonged neonatal jaundice, ... |
ORPHA:90674 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure, Dysphagia |
OMIM:620166 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Intestinal malrotation, Cleft palate, High palate, Tracheomalacia, Malar fl... |
ORPHA:93259 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Micrognathia, Carious teeth, Respiratory insuffici... |
ORPHA:536467 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... |
ORPHA:199241 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Wide cranial sutures, Congenital hip dislocation, Large fontanelles, Hip dislocation, Narrow mout... |
OMIM:219150 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Thick lower lip vermilion, Acrocyanosis, Long philtrum |
OMIM:614407 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High palate, Thick v... |
OMIM:618106 |
Desmosterolosis |
|
Intestinal malrotation, Micrognathia, Submucous cleft hard palate, Cleft palate, Narrow mouth, Re... |
ORPHA:35107 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress |
OMIM:616733 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Midgut malrotation, Cyanosis, Short lingual frenulum, Cleft palate |
ORPHA:2326 |
Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Micrognathia, Trismus, Submucous cleft hard palate, Cleft palate, Th... |
ORPHA:2671 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, High palate |
OMIM:271225 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hypoplasia of the maxilla, Wormian bones, Periodontitis |
OMIM:231070 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood |
OMIM:615597 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure, Tongue fascicu... |
OMIM:252010 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Movement abnormality of the tongue, Open mouth, Dysphagia |
ORPHA:98805 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... |
ORPHA:2038 |
Ethylene Glycol Poisoning |
|
Cyanosis, Gastritis, Tachypnea, Episodic respiratory distress, Addictive alcohol use, Abnormal pa... |
ORPHA:31826 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia |
OMIM:606763 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Smooth philtrum, Abnormality of the dentition, Cleft palate, Long philtrum,... |
OMIM:300968 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Bipolar affective disorder, Respiratory insufficiency, Depression, Bradykinesia, Dysphagia, Letha... |
ORPHA:254892 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Lethargy, Hypogeusia, Perianal erythema, Perioral erythema |
OMIM:201100 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Lethargy, Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Obsessive-compulsive trait, Dysphagia |
OMIM:160900 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Flexion contracture of finger, Micrognathia, Hypoplasia of the maxilla... |
OMIM:601812 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Wormian bones, Abnormal dental enamel morphology, Micrognathia |
ORPHA:2050 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Micrognathia, Hip dislocation, Tooth malposition, Delayed cranial sutu... |
ORPHA:2484 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Respiratory distress, Hypoplasia of the maxilla... |
OMIM:166250 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Lethargy |
ORPHA:156 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Lethargy, Dysphagia |
OMIM:607483 |
Methylcobalamin Deficiency Type Cble |
|
Lethargy |
ORPHA:2169 |
Aicardi-Goutieres Syndrome 1 |
|
Erythema, Multiple gastric polyps, Prolonged neonatal jaundice, Acrocyanosis, Self-mutilation, Pe... |
OMIM:225750 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Nar... |
OMIM:154500 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Prematurely aged appearance, Telangiectasia of the skin, Hiatus hernia, Pyl... |
ORPHA:3342 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Generalized abnormality of skin, Esophageal varix, Respiratory insufficiency |
ORPHA:367 |
Wrinkly Skin Syndrome |
|
Microretrognathia, Delayed eruption of teeth, Congenital hip dislocation, Wormian bones, Delayed ... |
OMIM:278250 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Hyperactivity, Neonatal respiratory distress, Abnormal eating behavior, Ast... |
ORPHA:209905 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Lethargy, Pneumothorax |
OMIM:620306 |
Holocarboxylase Synthetase Deficiency |
|
Lethargy, Tachypnea, Hyperventilation |
OMIM:253270 |
Hutchinson-Gilford Progeria Syndrome |
|
Delayed eruption of teeth, Prominent superficial blood vessels, Cyanosis, Dental crowding, Short ... |
ORPHA:740 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Cardiorespiratory arrest |
OMIM:212138 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Macroglossia, Lethargy, Prolonged neonatal jaundice |
ORPHA:90673 |
Diamond-Blackfan Anemia |
|
Cleft soft palate, Micrognathia, Cleft lip, High palate, Adenocarcinoma of the colon, Lethargy |
ORPHA:124 |
Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:60025 |
Necrotizing Enterocolitis |
|
Lethargy, Apnea |
ORPHA:391673 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis, Tachypnea |
ORPHA:860 |
Carnitine Palmitoyltransferase I Deficiency |
|
Lethargy |
OMIM:255120 |
Chitayat Syndrome |
|
Respiratory distress, Thick vermilion border, Tracheomalacia |
OMIM:617180 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea |
OMIM:261680 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Central hypoventilation, Aggressive behavior, Celiac disease, Asthma, ... |
ORPHA:293987 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Abnormal dental enamel morphology, High, narrow palate, Submucous cleft ha... |
ORPHA:2658 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Prominent metopic ridge, Micrognathia, Large fontanelles, Osteochondrosis, Wide mouth, Thin vermi... |
ORPHA:2995 |
Osteogenesis Imperfecta, Type Xi |
|
Protrusio acetabuli, Wormian bones, Dentinogenesis imperfecta |
OMIM:610968 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Elbow dislocation, Large fontanelles, Delayed cranial suture closure |
ORPHA:2249 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Intestinal malrotation, Cleft palate, High palate, Tracheomalacia, Anal atr... |
ORPHA:93260 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Exaggerated cupid's bow, Anorexia, Aggressive behavior, Oral-pharyng... |
ORPHA:2131 |
Alg9-Cdg |
|
Microretrognathia, Thin upper lip vermilion, Villous atrophy, Prominent metopic ridge, Delayed cr... |
ORPHA:79328 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Congenital hip dislocation, Large fontanelles, High palate, Long philtrum, Wormian bones |
OMIM:612940 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Cardiofaciocutaneous Syndrome 1 |
|
Micrognathia, Open bite, Abnormality of the dentition, Deep philtrum, Submucous cleft hard palate... |
OMIM:115150 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Micrognathia, Hip dislocation, Cleft palate,... |
OMIM:309350 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Apnea, Dental crowding, Micrognathia, Deep philtrum, Facial erythema, Down... |
OMIM:619503 |
Mitochondrial Trifunctional Protein Deficiency |
|
Lethargy, Respiratory failure, Respiratory insufficiency |
ORPHA:746 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Dental crowding, Micrognathia, Elbow flexion contracture, Hypoplasia of teeth, High palate, Wormi... |
OMIM:248370 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Anorexia, Malabsorption, Erythema, Death in childhood, Steatorrhea, Lethargy |
OMIM:557000 |
Mercury Poisoning |
|
Respiratory distress, Anorexia, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent pneumonia, Macroglossia, Thick vermilion border, Death in childhood |
OMIM:617303 |
1Q41Q42 Microdeletion Syndrome |
|
Submucous cleft hard palate, Thick vermilion border, Cleft palate |
ORPHA:250999 |
Biotinidase Deficiency |
|
Respiratory distress, Lethargy, Apnea, Hyperventilation |
ORPHA:79241 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... |
OMIM:618426 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Lethargy |
OMIM:251110 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Selective tooth agenesis, Micrognathia, High, narrow palate, Supernumerary tooth, De... |
OMIM:234100 |
Biotinidase Deficiency |
|
Lethargy, Tachypnea, Apnea |
OMIM:253260 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Intestinal obstruction, Erythema, Urticaria, Recurrent aphthous stomatitis, Acrocyanosis, Purpura |
ORPHA:343 |
Osteogenesis Imperfecta, Type Xvi |
|
Microretrognathia, Tooth agenesis, Wormian bones |
OMIM:616229 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Long philtrum |
OMIM:617895 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Lethargy, Jaundice, Tachypnea |
OMIM:615751 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Acrocyanosis, Tented upper lip vermilion |
ORPHA:896 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Micrognathia, Abnormality of the dentition, Humeroradial synostosis, Micro... |
OMIM:151050 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... |
OMIM:615512 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Dysphagia, Aggressive behavior |
ORPHA:488627 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Silver-Russell Syndrome |
|
Dental crowding, Micrognathia, Downturned corners of mouth, Thin vermilion border, Delayed crania... |
ORPHA:813 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Thin upper lip vermilion, Hip contracture, Micrognathia, Knee flexion contracture, Oligodontia, H... |
OMIM:210730 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Lethargy, Apathy |
ORPHA:465508 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Lethargy |
OMIM:237300 |
Arboleda-Tham Syndrome |
|
Microretrognathia, Mandibular prognathia, Respiratory distress, Neonatal respiratory distress, Th... |
OMIM:616268 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Lethargy, Depression, Prolonged neonatal jaundice |
ORPHA:99832 |
Hennekam-Beemer Syndrome |
|
Camptodactyly of finger, Micrognathia, Thick lower lip vermilion, High palate, Delayed cranial su... |
ORPHA:2135 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Lethargy, Jaundice, Death in infancy |
OMIM:617156 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Hyperactivity, Micrognathia, Carious teeth, Velopharyngeal insufficien... |
OMIM:223370 |
Late-Onset Isolated Acth Deficiency |
|
Celiac disease, Lethargy, Anorexia |
ORPHA:199299 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Lethargy |
OMIM:201450 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Abnormal stomach morphology, Neonatal asphyxia, Dyspnea, Wheezing... |
ORPHA:141127 |
Maple Syrup Urine Disease |
|
Lethargy |
OMIM:248600 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Lethargy |
ORPHA:2089 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Thin upper lip vermilion, Hip contracture, Deep philtrum, Submucous cleft hard palate, Thin lower... |
OMIM:619194 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Lethargy |
OMIM:251100 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... |
ORPHA:2250 |
Renal Hypoplasia, Bilateral |
|
Lethargy, Neonatal respiratory distress |
ORPHA:97362 |
Schwartz-Jampel Syndrome |
|
Death in infancy, Pursed lips, Hip contracture, Protrusio acetabuli, Micrognathia, Elbow dislocat... |
ORPHA:800 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Wide cranial sutures, Dental crowding, Limited elbow movement, Micrognathia, D... |
OMIM:614008 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
Viss Syndrome |
|
Chronic gastritis, Prominent superficial blood vessels, Micrognathia, High, narrow palate, High p... |
OMIM:619472 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Arthropathy, Large fontanelles, Arthritis, High palate, Wormian bones |
OMIM:259100 |
Bruck Syndrome 2 |
|
Wormian bones, Pterygium, Elbow flexion contracture, Knee flexion contracture |
OMIM:609220 |
Encephalitis Lethargica |
|
Lethargy, Hyperventilation |
ORPHA:83600 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona... |
ORPHA:99106 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Aggressive behavior, Cleft upper lip, Wide anterior fontanel, Self-mutilation, Submucous cleft ha... |
OMIM:607872 |
Osteoporosis-Pseudoglioma Syndrome |
|
Wormian bones |
ORPHA:2788 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Cleft soft palate, Aggressive behavior, Pyloric stenosis, Supernumerary tooth, Widely spaced teet... |
ORPHA:268261 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Malabsorption, Intestinal perforation, Cough, Erythema, Tracheoesophageal f... |
ORPHA:537 |
Sifrim-Hitz-Weiss Syndrome |
|
Flat acetabular roof, Anteriorly placed anus, Fused cervical vertebrae, Wormian bones, Bifid uvula |
OMIM:617159 |
Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Enlargement of the wr... |
ORPHA:289157 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Macroglossia, Pleural effusion |
OMIM:261740 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lethargy, Apnea |
ORPHA:395 |
Zttk Syndrome |
|
Craniosynostosis, Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft hard p... |
OMIM:617140 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the anterior fontanelle... |
ORPHA:2962 |
D-Bifunctional Protein Deficiency |
|
Micrognathia, Large fontanelles, High palate, Long philtrum, Retrognathia, Delayed cranial suture... |
OMIM:261515 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Prominent metopic ridge, Dental crowding, Sagit... |
OMIM:614188 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Respiratory insufficiency, Cyanosis, Apnea, Meconium ileus |
OMIM:617239 |
Menkes Disease |
|
Wormian bones, Death in childhood |
OMIM:309400 |
Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
Doors Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Short lingual frenulum, Abnormality of the dentit... |
ORPHA:79500 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Wide anterior fontanel, Pyloric stenosis, Hip dislocation, Joint subluxation, Small bowel diverti... |
ORPHA:90349 |
Marshall-Smith Syndrome |
|
Microretrognathia, Eclabion, Prominence of the premaxilla, Irregular dentition, Wormian bones, Cr... |
OMIM:602535 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
Marden-Walker Syndrome |
|
Micrognathia, Pyloric stenosis, Submucous cleft hard palate, Cleft palate, Attention deficit hype... |
ORPHA:2461 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Micrognathia, Submucous cleft hard palate, Cleft palate, Solitary median maxill... |
OMIM:301043 |
Cardiofaciocutaneous Syndrome |
|
Submucous cleft hard palate, Excessive wrinkled skin, High palate, Hypoplasia of the zygomatic bo... |
ORPHA:1340 |
Trisomy 10P |
|
Wide cranial sutures, Micrognathia, Orofacial cleft, Abnormal lip morphology, Thin vermilion bord... |
ORPHA:171929 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
Cocaine Intoxication |
|
Respiratory distress, Intestinal perforation, Wheezing, Tachypnea, Pneumothorax, Colitis, Agitati... |
ORPHA:90068 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Erosion of oral mucosa, Pneumonia, Abnormal oral mucosa morphology, Dyspnea... |
ORPHA:79404 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormality of taste sensation, Restlessness, Sinusitis, Pneumonia, Lethargy |
ORPHA:68 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... |
ORPHA:555874 |
Rodrigues Blindness |
|
Ectodermal dysplasia, Nasal flaring, Tooth malposition |
OMIM:268320 |
Tolchin-Le Caignec Syndrome |
|
Micrognathia, Submucous cleft hard palate, High palate, Attention deficit hyperactivity disorder,... |
OMIM:618971 |
Hajdu-Cheney Syndrome |
|
Intestinal malrotation, Micrognathia, Open bite, Abnormality of the dentition, Abnormal mandible ... |
ORPHA:955 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Cutis marmorata, Malabsorption, Pulmonary embolism, Cough, Angioedema, Dysp... |
ORPHA:3260 |
Hajdu-Cheney Syndrome |
|
Intestinal malrotation, Micrognathia, Dental malocclusion, Genu valgum, Crowded carpal bones, Hig... |
OMIM:102500 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth |
OMIM:151210 |
Limb-Mammary Syndrome |
|
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Malar flatte... |
ORPHA:69085 |
Walker-Warburg Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:899 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Cleft of chin, Cleft palate, Narrow palate, Radioulnar synostosis, Lam... |
OMIM:101400 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Cutis marmorata, Rectal prolapse, Thick lower lip vermilion, Dental malocc... |
OMIM:303600 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Nonproductive cough, Rhinitis, Dysphagia, Ecchymosis, Purpura |
ORPHA:319213 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Medulloblastoma |
|
Lethargy, Adenomatous colonic polyposis |
ORPHA:616 |
Ogden Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Everted upper lip vermilion, Congenital hip dislocat... |
OMIM:300855 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... |
ORPHA:365 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Lethargy |
ORPHA:71212 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Abnormal dental enamel morphology, Micrognathia, Dyspnea, Erythema, Respira... |
ORPHA:2556 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Abnormality of the dentition, Trismus, Asthma, Smooth tongue |
ORPHA:3206 |
Isolated Arrhinia |
|
Respiratory distress, Hypoplasia of the nasal bone |
ORPHA:1134 |
Aymé-Gripp Syndrome |
|
Thin upper lip vermilion, Prominent metopic ridge, Craniosynostosis, Narrow mouth, Large fontanel... |
ORPHA:1272 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... |
ORPHA:99104 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Wormian bones |
OMIM:619638 |
Myasthenia Gravis |
|
Dyspnea, Acrocyanosis, Dysphagia |
ORPHA:589 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Lethargy |
OMIM:277410 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Isolated Complex I Deficiency |
|
Lethargy, Respiratory insufficiency |
ORPHA:2609 |
Primary Hyperoxaluria |
|
Cutis marmorata, Abnormality of the dentition, Rootless teeth, Abnormal dental pulp morphology, A... |
ORPHA:416 |
Bruck Syndrome |
|
Wormian bones, Pterygium |
ORPHA:2771 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Micrognathia, Intra-oral hyperpigmentation, Narrow mouth, Genu valgum, High palate, Short philtru... |
OMIM:619127 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor |
OMIM:615595 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Lethargy, Smooth philtrum |
OMIM:277400 |
Achondroplasia |
|
Respiratory distress, Malar flattening, Upper airway obstruction, Death in infancy |
OMIM:100800 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Smooth philtrum, Delayed cranial suture closure,... |
OMIM:601088 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Impulsivity, Aggressive behavior, High, narrow palate, Wide mouth, Short philtru... |
OMIM:300967 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Long philtrum |
ORPHA:50810 |
Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Celiac disease, Jaundice, Esophageal varix, Bilateral ... |
OMIM:301068 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Attention deficit hyperactivity disorder, Submucous cleft hard palate, Compulsive behaviors, Depr... |
OMIM:618891 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Bifid uvula, Craniosynostosis, Micrognathia |
OMIM:601374 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Pneumonia, Tachypnea, Ecchymosis |
ORPHA:36234 |
Curry-Jones Syndrome |
|
Bicoronal synostosis, Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip p... |
OMIM:601707 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Miscarriage, Ulnar deviation of the wrist, Int... |
ORPHA:96334 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Gastritis, Pneumonia, Malabsorption, Ileus, Urticaria, Interstitial pneumon... |
ORPHA:37042 |
Japanese Encephalitis |
|
Respiratory distress, Anorexia, Respiratory paralysis, Abnormal pattern of respiration, Irregular... |
ORPHA:79139 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Wormian bones, High palate |
OMIM:300232 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Stridor, Macroglossia, Thick vermilion border, Pulmonary arterial hypertens... |
ORPHA:505248 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Wormian bones, Large fontanelles, High palate, Abnormality of the dentition |
ORPHA:90153 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Micrognathia, Pyloric stenosis, Cleft palate, Narrow mouth, Retrognathia |
ORPHA:83617 |
Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure |
ORPHA:206436 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, D... |
ORPHA:210122 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Median cleft lip, Accessory oral frenulum, Supernumerary tooth, Aplasia of ... |
OMIM:617088 |
8Q24.3 Microdeletion Syndrome |
|
Microretrognathia, Branchial cyst, Hyperactivity, Respiratory distress, Thin upper lip vermilion,... |
ORPHA:508488 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Bruising susceptibility, Cleft soft palate |
OMIM:614557 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
Osteogenesis Imperfecta, Type Ii |
|
Wormian bones, Large fontanelles |
OMIM:166210 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Microretrognathia, Thin upper lip vermilion, Joint dislocation, Intestinal malrotation, Hiatus he... |
OMIM:601776 |
Mgat2-Cdg |
|
Respiratory distress, Open mouth, Dental crowding, Stereotypical hand wringing |
ORPHA:79329 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Anorexia, Or... |
ORPHA:95455 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Cleft palate, Downturned corners of mouth, Respiratory failure, Thin v... |
ORPHA:500150 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive beha... |
ORPHA:805 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Lethargy |
OMIM:210210 |
Absence Of The Pulmonary Artery |
|
Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni... |
ORPHA:980 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Macroglossia, Lethargy, Prolonged neonatal jaundice |
ORPHA:226307 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Micrognathia, Dyspnea, Submucous cleft hard palate, Cleft palate, Respiratory failure, Thick verm... |
ORPHA:2636 |
Eosinophilic Fasciitis |
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Acrocyanosis |
ORPHA:3165 |
Hereditary Fructose Intolerance |
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Lethargy, Jaundice |
ORPHA:469 |
Q Fever |
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Respiratory distress, Pneumonia, Anorexia, Cough, Pleural effusion, Purpura |
ORPHA:781 |
Otopalatodigital Syndrome, Type Ii |
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Congenital hip dislocation, Delayed closure of the anterior fontanelle, Micrognathia, Wide anteri... |
OMIM:304120 |
Criss-Cross Heart |
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Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
Marburg Hemorrhagic Fever |
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Anorexia, Aggressive behavior, Nonproductive cough, Jaundice, Lethargy, Bruising susceptibility, ... |
ORPHA:99826 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
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Submucous cleft hard palate, Bifid uvula |
OMIM:617660 |
Kufor-Rakeb Syndrome |
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Bradykinesia, Apathy, Difficulty in tongue movements, Dysphagia, Lethargy |
ORPHA:306674 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Stridor, Macroglossia, Lethargy |
OMIM:218700 |
Transcobalamin Ii Deficiency |
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Lethargy |
OMIM:275350 |
Inhalational Anthrax |
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Respiratory distress, Dyspnea |
ORPHA:247257 |
Eisenmenger Syndrome |
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Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul... |
ORPHA:97214 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
Lysinuric Protein Intolerance |
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Oral aversion, Respiratory insufficiency, Lethargy, Steatorrhea |
ORPHA:470 |
Cutis Laxa, Autosomal Dominant 3 |
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Wormian bones, Hip dislocation, Delayed cranial suture closure |
OMIM:616603 |
Congenital Enterovirus Infection |
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Respiratory distress, Pleural effusion |
ORPHA:292 |
Fucosidosis |
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Acrocyanosis, Vascular skin abnormality, Abnormality of the dentition |
ORPHA:349 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
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Macroglossia, Delayed cranial suture closure |
OMIM:613038 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
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Lethargy, Tachypnea |
ORPHA:415 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
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Arthropathy, Sclerotic cranial sutures, Arthritis, Carpal osteolysis, Pterygium |
ORPHA:371428 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Respiratory distress, Apnea, Orofacial cleft, Aggressive behavior |
ORPHA:17 |
Farber Disease |
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Respiratory distress, Respiratory insufficiency |
ORPHA:333 |
Familial Hypoaldosteronism |
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Lethargy |
ORPHA:427 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
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Thin upper lip vermilion, Aggressive behavior, Asthma, Nasal flaring, Downturned corners of mouth... |
ORPHA:466943 |
Poems Syndrome |
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Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... |
ORPHA:2905 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
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Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Bifid uvula, Retrognathia, Ne... |
ORPHA:3047 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
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Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... |
OMIM:610655 |
Diamond-Blackfan Anemia 1 |
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Cleft upper lip, Micrognathia, Cleft palate, High palate, Colon cancer, Retrognathia, Delayed cra... |
OMIM:105650 |
Hemorrhagic Fever-Renal Syndrome |
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Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Agitation, Cough, Ecchy... |
ORPHA:340 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:274150 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
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Respiratory distress, Stomatitis |
OMIM:612852 |
Exercise-Induced Malignant Hyperthermia |
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Crackles, Tachypnea, Hypocapnia, Lethargy, Flushing |
ORPHA:466650 |
Unilateral Polymicrogyria |
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Pseudobulbar paralysis, Cyanosis, Apnea, Epistaxis |
ORPHA:268943 |
Congenital Disorder Of Deglycosylation 1 |
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Respiratory distress, Restlessness, Oral-pharyngeal dysphagia, Impaired oropharyngeal swallow res... |
OMIM:615273 |
Ulbright-Hodes Syndrome |
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Respiratory distress, Micrognathia, Pneumothorax, Respiratory failure, Thin vermilion border, Hig... |
ORPHA:3404 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
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Respiratory distress, Pulmonary arterial hypertension |
ORPHA:2519 |
Double Outlet Left Ventricle |
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Cyanosis, Tachypnea, Orofacial cleft |
ORPHA:3427 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Thin upper lip vermilion, Micrognathia, Downturned corners of mouth, Glossoptosis, Macroglossia, ... |
ORPHA:444077 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Intestinal malrotation, Cleft soft palate, Genu valgum, Downturned corners of mouth, Smooth philtrum |
OMIM:619321 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
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Lethargy |
OMIM:201470 |
Heterotaxy, Visceral, 1, X-Linked |
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Respiratory distress, Cyanosis, Posteriorly placed anus, Anal atresia, Duodenal atresia |
OMIM:306955 |
Multiple Endocrine Neoplasia Type 1 |
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Duodenal ulcer, Peptic ulcer, Anorexia, Gingival fibromatosis, Depression, Lethargy |
ORPHA:652 |
Glycine Encephalopathy |
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Lethargy, Respiratory acidosis, Breathing dysregulation |
ORPHA:407 |
Menkes Disease |
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Tarsal synostosis, Malabsorption, Micrognathia, Wormian bones, Chondrocalcinosis, Abnormal palate... |
ORPHA:565 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Delayed cranial suture closure, Craniosynostosis, Micrognathia, Thick vermilion border, Microdont... |
OMIM:620005 |
Shwachman-Diamond Syndrome 1 |
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Respiratory distress, Neonatal respiratory distress, Steatorrhea |
OMIM:260400 |
Nocardiosis |
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Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Pneumo... |
ORPHA:31204 |
Heterotaxy, Visceral, 7, Autosomal |
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Cyanosis, Intestinal malrotation |
OMIM:616749 |
Coffin-Siris Syndrome 12 |
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Micrognathia, Celiac disease, Velopharyngeal insufficiency, Submucous cleft hard palate, Ridged c... |
OMIM:619325 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Decreased sensitivity to hypoxemia, Acrocyanosis, Hypogeusia |
OMIM:223900 |
Classical Ehlers-Danlos Syndrome |
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Abnormality of the temporomandibular joint, Prematurely aged appearance, Poor wound healing, Hiat... |
ORPHA:287 |
Cardiomyopathy, Familial Hypertrophic, 4 |
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Respiratory distress, Dyspnea |
OMIM:115197 |
Holoprosencephaly 2 |
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Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary ... |
OMIM:157170 |
Wiedemann-Rautenstrauch Syndrome |
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Reduced subcutaneous adipose tissue, Natal tooth, Prominent scalp veins, Thin upper lip vermilion... |
ORPHA:3455 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Death in infancy, Cyanosis |
OMIM:617478 |
Citrullinemia, Classic |
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Lethargy |
OMIM:215700 |
Neuromuscular Oculoauditory Syndrome |
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Respiratory distress, Aspiration |
OMIM:618733 |
Wrinkly Skin Syndrome |
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Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the anterior fontanelle... |
ORPHA:2834 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
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Lethargy |
OMIM:311250 |
Paroxysmal Nocturnal Hemoglobinuria |
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Pulmonary embolism, Dyspnea, Jaundice, Dysphagia, Lethargy |
ORPHA:447 |
Microphthalmia, Syndromic 2 |
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Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Submucous cleft har... |
OMIM:300166 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Mandibular prognathia, Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnorma... |
ORPHA:261537 |
Argininosuccinic Aciduria |
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Lethargy |
OMIM:207900 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
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Wormian bones, Joint subluxation, Hip dislocation |
OMIM:617821 |
Restrictive Dermopathy |
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Natal tooth, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Temporomandibula... |
ORPHA:1662 |
Neuroocular Syndrome |
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Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spaced teeth, Atten... |
OMIM:619539 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
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Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:256810 |
Listeriosis |
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Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure |
ORPHA:533 |
Mowat-Wilson Syndrome |
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Mandibular prognathia, Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnorma... |
ORPHA:2152 |
Aortic Arch Interruption |
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Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea |
ORPHA:2299 |
Osteogenesis Imperfecta, Type Xxi |
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Wormian bones |
OMIM:619131 |
Yunis-Varon Syndrome |
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Wide cranial sutures, Premature loss of primary teeth, Micrognathia, Abnormality of dental struct... |
ORPHA:3472 |
Glycerol Kinase Deficiency |
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Downturned corners of mouth, Lethargy |
OMIM:307030 |
Cryptococcosis |
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Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion |
ORPHA:1546 |
Hypermobile Ehlers-Danlos Syndrome |
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Apnea, Malabsorption, Abnormality of the dentition, Abnormality of the gingiva, Gingival overgrow... |
ORPHA:285 |
Plague |
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Respiratory distress, Chapped lip, Anorexia, Enterocolitis, Depression, Acute infectious pneumoni... |
ORPHA:707 |
Osteogenesis Imperfecta |
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Delayed eruption of teeth, Abnormality of dental color, Intestinal obstruction, Abnormal dental e... |
ORPHA:666 |
Lymphatic Malformation 7 |
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Respiratory distress, Pleural effusion, Chylothorax |
OMIM:617300 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Carious teeth, Delayed cranial suture closure, Persistence of primary teeth |
ORPHA:93325 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Respiratory distress, Thin upper lip vermilion, Abnormality of the dentition, Gingival overgrowth... |
ORPHA:480880 |
Hunter-Macdonald Syndrome |
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Thin upper lip vermilion, Premature osteoarthritis, Large fontanelles, Short philtrum, Cubitus va... |
OMIM:611962 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Mandibular prognathia, Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnorma... |
ORPHA:261552 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Apnea, Dyspnea, Episodic respiratory distress, Dysphagia, Hyperventilation |
ORPHA:255210 |
Hyperparathyroidism, Transient Neonatal |
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Respiratory distress |
OMIM:618188 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Anteriorly placed anus, High palate, Delayed cranial suture closure, Smooth philtrum |
OMIM:618653 |
Occipital Horn Syndrome |
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Hiatus hernia, High, narrow palate, Large fontanelles, Hip dislocation, Genu valgum, Esophagitis,... |
ORPHA:198 |
Dermatomyositis |
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Telangiectasia of the skin, Gastrointestinal stroma tumor, Erythema, Respiratory insufficiency, A... |
ORPHA:221 |
Goodpasture Syndrome |
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Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... |
OMIM:233450 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
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Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea |
ORPHA:99050 |
Hydranencephaly |
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Lethargy |
ORPHA:2177 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
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Large fontanelles, Delayed cranial suture closure, Long philtrum |
ORPHA:2211 |
Colchicine Poisoning |
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Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
Cardiac Valvular Dysplasia 2 |
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Central cyanosis |
OMIM:620067 |
Pallister-Killian Syndrome |
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Tented upper lip vermilion, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Cam... |
OMIM:601803 |
Fructose Intolerance, Hereditary |
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Lethargy, Jaundice |
OMIM:229600 |
Coccidioidomycosis |
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Respiratory distress, Pneumonia, Pleural empyema, Cough, Exudative pleural effusion |
ORPHA:228123 |
Kasabach-Merritt Syndrome |
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Respiratory distress, Hypopnea, Petechiae, Purpura |
ORPHA:2330 |
Postinfectious Vasculitis |
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Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Vasculitis in the skin, Acrocyanosis |
ORPHA:48435 |
Scimitar Syndrome |
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Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough |
ORPHA:185 |
Gitelman Syndrome |
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Respiratory distress, Polydipsia, Salt craving |
ORPHA:358 |
Schinzel-Giedion Midface Retraction Syndrome |
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Wormian bones, Macroglossia, Metopic suture patent to nasal root, Widely patent fontanelles and s... |
OMIM:269150 |
Familial Dysautonomia |
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Acrocyanosis |
ORPHA:1764 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis, Narrow mouth... |
OMIM:614748 |
Mowat-Wilson Syndrome |
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Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ... |
OMIM:235730 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Respiratory distress, Recurrent pneumonia, Thin vermilion border, Long philtrum, Retrognathia |
ORPHA:99646 |
Leptospirosis |
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Respiratory distress, Anorexia, Jaundice, Cough, Pleural effusion |
ORPHA:509 |
Aicardi-Goutières Syndrome |
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Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice |
ORPHA:51 |
Congenital Total Pulmonary Venous Return Anomaly |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... |
ORPHA:99125 |
Cebalid Syndrome |
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High palate, Polyphagia |
OMIM:618774 |
Pineoblastoma |
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Lethargy |
ORPHA:251909 |
Hyperoxaluria, Primary, Type I |
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Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Autosomal Dominant Cutis Laxa |
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Genu recurvatum, Hip dislocation, Small bowel diverticula, Wormian bones, Delayed cranial suture ... |
ORPHA:90348 |
Truncus Arteriosus |
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Cyanosis, Tachypnea |
ORPHA:3384 |
Pmm2-Cdg |
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Mandibular prognathia, Respiratory distress, Thin upper lip vermilion, Abnormal subcutaneous fat ... |
ORPHA:79318 |
Generalized Arterial Calcification Of Infancy |
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Respiratory distress, Pulmonary arterial hypertension, Cyanosis |
ORPHA:51608 |
Yunis-Varon Syndrome |
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Thin upper lip vermilion, Wide cranial sutures, Congenital hip dislocation, Premature loss of pri... |
OMIM:216340 |
1P36 Deletion Syndrome |
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Camptodactyly of finger, Pyloric stenosis, Narrow mouth, Abnormal intestine morphology, Long phil... |
ORPHA:1606 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Respiratory distress, Intestinal malrotation |
ORPHA:2255 |
Cardiac Valvular Dysplasia 1 |
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Cyanosis |
OMIM:212093 |
Congenitally Corrected Transposition Of The Great Arteries |
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Cyanosis |
ORPHA:216694 |
Alström Syndrome |
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Respiratory distress, Abnormality of dental color, Dorsocervical fat pad, Chronic pulmonary obstr... |
ORPHA:64 |
Meningioma, Familial, Susceptibility To |
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OMIM:607174 |