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Gene: Mn1 MGI:1261813

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

meningioma 1

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Mn1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Mn1 (2 diseases)
Human diseases predicted to be associated with Mn1 (815 diseases)

The table below shows human diseases associated to Mn1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cebalid Syndrome		High palate, Polyphagia	OMIM:618774
Meningioma, Familial, Susceptibility To			OMIM:607174

The table below shows human diseases predicted to be associated to Mn1 by phenotypic similarity.

Disease	Matching phenotypes	Source
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	Micrognathia, Dyspnea, Submucous cleft hard palate, Cleft palate, Respiratory failure, Thick verm...	ORPHA:2636
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Hereditary Fructose Intolerance	Lethargy, Jaundice	ORPHA:469
Q Fever	Respiratory distress, Pneumonia, Anorexia, Cough, Pleural effusion, Purpura	ORPHA:781
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Delayed closure of the anterior fontanelle, Micrognathia, Wide anteri...	OMIM:304120
Criss-Cross Heart	Cyanosis, Respiratory insufficiency	ORPHA:1461
Marburg Hemorrhagic Fever	Anorexia, Aggressive behavior, Nonproductive cough, Jaundice, Lethargy, Bruising susceptibility, ...	ORPHA:99826
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Submucous cleft hard palate, Bifid uvula	OMIM:617660
Kufor-Rakeb Syndrome	Bradykinesia, Apathy, Difficulty in tongue movements, Dysphagia, Lethargy	ORPHA:306674
Hypothyroidism, Congenital, Nongoitrous, 2	Stridor, Macroglossia, Lethargy	OMIM:218700
Transcobalamin Ii Deficiency	Lethargy	OMIM:275350
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Eisenmenger Syndrome	Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul...	ORPHA:97214
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,...	OMIM:600376
Lysinuric Protein Intolerance	Oral aversion, Respiratory insufficiency, Lethargy, Steatorrhea	ORPHA:470
Cutis Laxa, Autosomal Dominant 3	Wormian bones, Hip dislocation, Delayed cranial suture closure	OMIM:616603
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Fucosidosis	Acrocyanosis, Vascular skin abnormality, Abnormality of the dentition	ORPHA:349
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Macroglossia, Delayed cranial suture closure	OMIM:613038
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Lethargy, Tachypnea	ORPHA:415
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Arthropathy, Sclerotic cranial sutures, Arthritis, Carpal osteolysis, Pterygium	ORPHA:371428
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Apnea, Orofacial cleft, Aggressive behavior	ORPHA:17
Farber Disease	Respiratory distress, Respiratory insufficiency	ORPHA:333
Familial Hypoaldosteronism	Lethargy	ORPHA:427
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Aggressive behavior, Asthma, Nasal flaring, Downturned corners of mouth...	ORPHA:466943
Poems Syndrome	Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter...	ORPHA:2905
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Bifid uvula, Retrognathia, Ne...	ORPHA:3047
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta...	OMIM:610655
Diamond-Blackfan Anemia 1	Cleft upper lip, Micrognathia, Cleft palate, High palate, Colon cancer, Retrognathia, Delayed cra...	OMIM:105650
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Agitation, Cough, Ecchy...	ORPHA:340
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:274150
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Stomatitis	OMIM:612852
Exercise-Induced Malignant Hyperthermia	Crackles, Tachypnea, Hypocapnia, Lethargy, Flushing	ORPHA:466650
Unilateral Polymicrogyria	Pseudobulbar paralysis, Cyanosis, Apnea, Epistaxis	ORPHA:268943
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Restlessness, Oral-pharyngeal dysphagia, Impaired oropharyngeal swallow res...	OMIM:615273
Ulbright-Hodes Syndrome	Respiratory distress, Micrognathia, Pneumothorax, Respiratory failure, Thin vermilion border, Hig...	ORPHA:3404
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension	ORPHA:2519
Double Outlet Left Ventricle	Cyanosis, Tachypnea, Orofacial cleft	ORPHA:3427
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Micrognathia, Downturned corners of mouth, Glossoptosis, Macroglossia, ...	ORPHA:444077
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Cleft soft palate, Genu valgum, Downturned corners of mouth, Smooth philtrum	OMIM:619321
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Lethargy	OMIM:201470
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Cyanosis, Posteriorly placed anus, Anal atresia, Duodenal atresia	OMIM:306955
Multiple Endocrine Neoplasia Type 1	Duodenal ulcer, Peptic ulcer, Anorexia, Gingival fibromatosis, Depression, Lethargy	ORPHA:652
Glycine Encephalopathy	Lethargy, Respiratory acidosis, Breathing dysregulation	ORPHA:407
Menkes Disease	Tarsal synostosis, Malabsorption, Micrognathia, Wormian bones, Chondrocalcinosis, Abnormal palate...	ORPHA:565
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Delayed cranial suture closure, Craniosynostosis, Micrognathia, Thick vermilion border, Microdont...	OMIM:620005
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress, Steatorrhea	OMIM:260400
Nocardiosis	Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Pneumo...	ORPHA:31204
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Intestinal malrotation	OMIM:616749
Coffin-Siris Syndrome 12	Micrognathia, Celiac disease, Velopharyngeal insufficiency, Submucous cleft hard palate, Ridged c...	OMIM:619325
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Decreased sensitivity to hypoxemia, Acrocyanosis, Hypogeusia	OMIM:223900
Classical Ehlers-Danlos Syndrome	Abnormality of the temporomandibular joint, Prematurely aged appearance, Poor wound healing, Hiat...	ORPHA:287
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Holoprosencephaly 2	Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary ...	OMIM:157170
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Natal tooth, Prominent scalp veins, Thin upper lip vermilion...	ORPHA:3455
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Cyanosis	OMIM:617478
Citrullinemia, Classic	Lethargy	OMIM:215700
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Aspiration	OMIM:618733
Wrinkly Skin Syndrome	Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the anterior fontanelle...	ORPHA:2834
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Lethargy	OMIM:311250
Paroxysmal Nocturnal Hemoglobinuria	Pulmonary embolism, Dyspnea, Jaundice, Dysphagia, Lethargy	ORPHA:447
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Submucous cleft har...	OMIM:300166
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnorma...	ORPHA:261537
Argininosuccinic Aciduria	Lethargy	OMIM:207900
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Wormian bones, Joint subluxation, Hip dislocation	OMIM:617821
Restrictive Dermopathy	Natal tooth, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Temporomandibula...	ORPHA:1662
Neuroocular Syndrome	Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spaced teeth, Atten...	OMIM:619539
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:256810
Listeriosis	Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure	ORPHA:533
Mowat-Wilson Syndrome	Mandibular prognathia, Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnorma...	ORPHA:2152
Aortic Arch Interruption	Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea	ORPHA:2299
Osteogenesis Imperfecta, Type Xxi	Wormian bones	OMIM:619131
Yunis-Varon Syndrome	Wide cranial sutures, Premature loss of primary teeth, Micrognathia, Abnormality of dental struct...	ORPHA:3472
Glycerol Kinase Deficiency	Downturned corners of mouth, Lethargy	OMIM:307030
Cryptococcosis	Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion	ORPHA:1546
Hypermobile Ehlers-Danlos Syndrome	Apnea, Malabsorption, Abnormality of the dentition, Abnormality of the gingiva, Gingival overgrow...	ORPHA:285
Plague	Respiratory distress, Chapped lip, Anorexia, Enterocolitis, Depression, Acute infectious pneumoni...	ORPHA:707
Osteogenesis Imperfecta	Delayed eruption of teeth, Abnormality of dental color, Intestinal obstruction, Abnormal dental e...	ORPHA:666
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax	OMIM:617300
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Delayed cranial suture closure, Persistence of primary teeth	ORPHA:93325
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Thin upper lip vermilion, Abnormality of the dentition, Gingival overgrowth...	ORPHA:480880
Hunter-Macdonald Syndrome	Thin upper lip vermilion, Premature osteoarthritis, Large fontanelles, Short philtrum, Cubitus va...	OMIM:611962
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnorma...	ORPHA:261552
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Dyspnea, Episodic respiratory distress, Dysphagia, Hyperventilation	ORPHA:255210
Hyperparathyroidism, Transient Neonatal	Respiratory distress	OMIM:618188
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Anteriorly placed anus, High palate, Delayed cranial suture closure, Smooth philtrum	OMIM:618653
Occipital Horn Syndrome	Hiatus hernia, High, narrow palate, Large fontanelles, Hip dislocation, Genu valgum, Esophagitis,...	ORPHA:198
Dermatomyositis	Telangiectasia of the skin, Gastrointestinal stroma tumor, Erythema, Respiratory insufficiency, A...	ORPHA:221
Goodpasture Syndrome	Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ...	OMIM:233450
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea	ORPHA:99050
Hydranencephaly	Lethargy	ORPHA:2177
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Large fontanelles, Delayed cranial suture closure, Long philtrum	ORPHA:2211
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
Cardiac Valvular Dysplasia 2	Central cyanosis	OMIM:620067
Pallister-Killian Syndrome	Tented upper lip vermilion, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Cam...	OMIM:601803
Fructose Intolerance, Hereditary	Lethargy, Jaundice	OMIM:229600
Coccidioidomycosis	Respiratory distress, Pneumonia, Pleural empyema, Cough, Exudative pleural effusion	ORPHA:228123
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea, Petechiae, Purpura	ORPHA:2330
Postinfectious Vasculitis	Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Vasculitis in the skin, Acrocyanosis	ORPHA:48435
Scimitar Syndrome	Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough	ORPHA:185
Gitelman Syndrome	Respiratory distress, Polydipsia, Salt craving	ORPHA:358
Schinzel-Giedion Midface Retraction Syndrome	Wormian bones, Macroglossia, Metopic suture patent to nasal root, Widely patent fontanelles and s...	OMIM:269150
Familial Dysautonomia	Acrocyanosis	ORPHA:1764
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis, Narrow mouth...	OMIM:614748
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ...	OMIM:235730
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Recurrent pneumonia, Thin vermilion border, Long philtrum, Retrognathia	ORPHA:99646
Leptospirosis	Respiratory distress, Anorexia, Jaundice, Cough, Pleural effusion	ORPHA:509
Aicardi-Goutières Syndrome	Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice	ORPHA:51
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy...	ORPHA:99125
Cebalid Syndrome	High palate, Polyphagia	OMIM:618774
Pineoblastoma	Lethargy	ORPHA:251909
Hyperoxaluria, Primary, Type I	Acrocyanosis, Cutis marmorata	OMIM:259900
Autosomal Dominant Cutis Laxa	Genu recurvatum, Hip dislocation, Small bowel diverticula, Wormian bones, Delayed cranial suture ...	ORPHA:90348
Truncus Arteriosus	Cyanosis, Tachypnea	ORPHA:3384
Pmm2-Cdg	Mandibular prognathia, Respiratory distress, Thin upper lip vermilion, Abnormal subcutaneous fat ...	ORPHA:79318
Generalized Arterial Calcification Of Infancy	Respiratory distress, Pulmonary arterial hypertension, Cyanosis	ORPHA:51608
Yunis-Varon Syndrome	Thin upper lip vermilion, Wide cranial sutures, Congenital hip dislocation, Premature loss of pri...	OMIM:216340
1P36 Deletion Syndrome	Camptodactyly of finger, Pyloric stenosis, Narrow mouth, Abnormal intestine morphology, Long phil...	ORPHA:1606
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Intestinal malrotation	ORPHA:2255
Cardiac Valvular Dysplasia 1	Cyanosis	OMIM:212093
Congenitally Corrected Transposition Of The Great Arteries	Cyanosis	ORPHA:216694
Alström Syndrome	Respiratory distress, Abnormality of dental color, Dorsocervical fat pad, Chronic pulmonary obstr...	ORPHA:64
Meningioma, Familial, Susceptibility To		OMIM:607174

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mn1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mn1.

No publications found that use IMPC mice or data for Mn1.

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MGI Allele	Allele Type	Produced
Mn1^{tm445122(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Mn1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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