Not currently registered for phenotyping at IMPC

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

Gene Summary

potassium inwardly-rectifying channel, subfamily J, member 2
Kir2.1,  IRK1,  Kcnf1

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Kcnj2 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.

The table below shows human diseases associated to Kcnj2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Kcnj2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Isolated Congenital Hypoglossia/Aglossia
Micrognathia, Cleft palate, Temporomandibular joint ankylosis, Microglossia, Upper airway obstruc... ORPHA:141152
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency, Oral-pharyngeal dysphagia, Hypoplasia of the max... ORPHA:99772
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Tongue edema, Pharyngeal edema, Angioedema, Swollen lip, Erythema, Facial edema, Upper airway obs... ORPHA:100057
Orofacial Cleft 13
Micrognathia, Oligodontia, Cleft soft palate, Malar flattening, Retrognathia OMIM:613857
Pierre Robin Syndrome
Micrognathia, Neonatal respiratory distress, Cleft palate, Pierre-Robin sequence, Glossoptosis, U... OMIM:261800
Cholesterol Pneumonia
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis OMIM:215030
Perching Syndrome
Respiratory distress, Dysphagia, High palate OMIM:617055
Isolated Pierre Robin Syndrome
Micrognathia, Neonatal respiratory distress, Cleft palate, Glossoptosis, Upper airway obstruction ORPHA:718
Lethal Osteosclerotic Bone Dysplasia
Micrognathia, Median cleft lip and palate, Mandibular aplasia, Gingival overgrowth, Respiratory d... ORPHA:1832
Diarrhea 2, With Microvillus Atrophy
Abnormal intestine morphology, Death in infancy, Villous atrophy, Dehydration OMIM:251850
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Dysphagia, High palate, Cleft palate, Respiratory insufficiency, Respiratory failure, Respiratory... OMIM:614399
Neuralgic Amyotrophy
Acrocyanosis, Cleft palate, Narrow mouth, Respiratory insufficiency ORPHA:2901
Cleft Lip/Palate
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... ORPHA:199306
Chronic Hiccup
Dehydration, Abnormal eating behavior ORPHA:396
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Chronic pulmonary obstruction, Ascites, Pulmonary arterial hypertension, Cough,... ORPHA:2414
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Gilbert Syndrome
Dehydration, Jaundice OMIM:143500
Laryngotracheal Angioma
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions ORPHA:137935
Lactase Deficiency, Congenital
Lactose intolerance, Dehydration, Decreased small intestinal mucosa lactase level OMIM:223000
Hereditary Angioedema Type 1
Tongue edema, Dysphagia, Inspiratory stridor, Pharyngeal edema, Intestinal edema, Edema of the do... ORPHA:100050
Lethal Recessive Chondrodysplasia
Micrognathia, Macroglossia, Edema, Polyhydramnios, Respiratory distress ORPHA:1423
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Micrognathia, Respiratory insufficiency due to muscle weakness, Polyhydra... OMIM:300580
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Stridor, Choking episodes, Cough, Impaired oropharyngeal swallow r... ORPHA:2004
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Bradycardia, Tachycardia, Cyanosis, Pulmonary edema, Cardiac arr... ORPHA:70587
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Edema, Recurrent pneumonia, Dehydration OMIM:616069
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Respiratory distress, Cyanosis, Low-output congestive heart failure ORPHA:91130
Bronchopulmonary Dysplasia
Wheezing, Right ventricular failure, Central apnea, Hyperoxemia, Abnormal respiratory system phys... ORPHA:70589
Asbestos Intoxication
Wheezing, Restrictive ventilatory defect, Hypoxemia, Right ventricular failure, Edema, Exertional... ORPHA:2302
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Edema, Respiratory distress, Pulmonary edema, Dyspnea, ... OMIM:267450
Solar Urticaria
Wheezing, Syncope, Abnormal lip morphology, Angioedema, Edema, Dermatographic urticaria, Urticari... ORPHA:97230
Recurrent Respiratory Papillomatosis
Wheezing, Syncope, Dysphagia, Stridor, Respiratory insufficiency, Tachypnea, Choking episodes, Up... ORPHA:60032
Auriculocondylar Syndrome 3
Retrognathia, Micrognathia, Bifid uvula, Glossoptosis OMIM:615706
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Micrognathia, Cleft palate, Mandibular prognathia, Bifid uvula, Retrognathia, Submucous cleft har... ORPHA:2521
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Pleural Mesothelioma
Dysphagia, Abnormal respiratory system physiology, Cough, Respiratory distress, Abnormal cardiova... ORPHA:50251
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Tachypnea, Supraventricular tachycardia, Hydrops... ORPHA:45452
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Dehydration, Pulmonic stenosis ORPHA:79159
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Hypodontia, Maxillozygomatic hypoplasia, Malar flattening, Delayed e... ORPHA:2972
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Cleft palate, Bifid uvula OMIM:258320
Hypoglossia With Situs Inversus
Hypodontia, High palate, Micrognathia, Microglossia, Upper airway obstruction, Respiratory distre... OMIM:612776
Myasthenic Syndrome, Congenital, 6, Presynaptic
Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respi... OMIM:254210
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions, Reduced for... ORPHA:91359
Split-Hand/Foot Malformation 3
High palate, Cleft palate, Narrow mouth, Hypoplasia of the maxilla, Microretrognathia OMIM:246560
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Cough, Respiratory distress, Cyanosis, Respiratory failure OMIM:263000
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Cryptogenic Organizing Pneumonia
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Cough, Respiratory distress,... ORPHA:1302
Intellectual Developmental Disorder, X-Linked 90
High palate, Malar flattening, Bifid uvula OMIM:300850
Adducted Thumbs Syndrome
High, narrow palate, Dysphagia, Cleft palate, High palate, Respiratory insufficiency, Velopharyng... OMIM:201550
Combined Oxidative Phosphorylation Deficiency 47
Dysphagia, Dehydration, Long philtrum OMIM:618958
Leukodystrophy, Hypomyelinating, 17
Widely spaced teeth, Respiratory distress, Gingival overgrowth, Mandibular prognathia OMIM:618006
Gaucher Disease Type 2
Dysphagia, Abnormal pattern of respiration, Cough, Respiratory distress, Cardiac arrest ORPHA:77260
Familial Cold Urticaria
Urticaria, Erythema, Dehydration, Polydipsia ORPHA:47045
Arthrogryposis, Distal, Type 1C
Cleft palate, High palate, Thin vermilion border, Bifid uvula, Pursed lips, Cleft lip, Increased ... OMIM:619110
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Primary Pulmonary Hypoplasia
Abnormal breath sound, Hypoxemia, Micrognathia, Cleft palate, Neonatal respiratory distress, Tach... ORPHA:2257
Congenital Disorder Of Glycosylation, Type Iu
Micrognathia, Neonatal respiratory distress, High palate, Death in infancy, Respiratory distress,... OMIM:615042
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Agnathia-Otocephaly Complex
Micrognathia, Cleft palate, Aglossia, Mandibular aplasia, Microglossia, Respiratory distress, Nar... OMIM:202650
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Dysphagia, Velopharyngeal insufficiency OMIM:617732
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respi... OMIM:605809
Maxillonasal Dysplasia
Cleft palate, Microdontia, Open bite, Mandibular prognathia, Hypoplasia of the maxilla, Tooth age... ORPHA:1248
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Auriculocondylar Syndrome
Mandibular condyle aplasia, Micrognathia, Cleft palate, Dental crowding, Obstructive sleep apnea,... ORPHA:137888
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Death in infancy, Tachypnea, Neonatal death, Apnea, Pulmonary arte... OMIM:265120
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Respiratory distress, Death in infancy OMIM:604377
Congenital Disorder Of Glycosylation, Type Iy
Widely spaced teeth, Respiratory distress, Micrognathia, Wide mouth OMIM:300934
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Epilepsy, Pyridoxine-Dependent
Respiratory distress, Neonatal respiratory distress OMIM:266100
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Crackles, Tachypnea, Cough, Tachycardia, Respiratory distress, Acute infectious pneumo... ORPHA:264675
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Exertional dyspne... ORPHA:99103
Severe Acute Respiratory Syndrome
Hypoxemia, Cough, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, Dyspnea... ORPHA:140896
Acute Interstitial Pneumonia
Hypoxemia, Hypertension, Crackles, Pericardial effusion, Bronchiectasis, Tachypnea, Cyanosis, Dec... ORPHA:79126
Anencephaly 2
Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
Autosomal Agammaglobulinemia
Sinusitis, High palate, Bronchiectasis, Cough, Malabsorption, Dehydration ORPHA:33110
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration, Respiratory insufficiency ORPHA:28
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Hypoxemia, Pericardial effusion, Pedal edema, Exertional dyspnea, Elev... ORPHA:199241
Choanal Atresia
Choking episodes, Chronic sinusitis, Upper airway obstruction, Respiratory distress, Cyanosis, Ab... ORPHA:137914
Acquired Methemoglobinemia
Hypoxemia, Syncope, Palpitations, Tachycardia, Respiratory distress, Cyanosis, Dyspnea, Arrhythmia ORPHA:464453
Myotubular Myopathy With Abnormal Genital Development
High palate, Death in infancy, Neonatal death, Polyhydramnios, Respiratory distress, Retrognathia... OMIM:300219
Transient Neonatal Diabetes Mellitus
Macroglossia, Dehydration ORPHA:99886
Congenital Myasthenic Syndrome
Respiratory arrest, Dysphagia, High palate, Apneic episodes precipitated by illness, fatigue, str... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Dysphagia, High palate, Apneic episodes precipitated by illness, fatigue, str... ORPHA:98914
Satb2-Associated Syndrome Due To A Pathogenic Variant
Micrognathia, Smooth philtrum, High palate, Cleft palate, Celiac disease, Long philtrum, Dysphagi... ORPHA:576283
Enteric Anendocrinosis
Portal hypertension, Dehydration, Malabsorption ORPHA:83620
Laryngeal Abductor Paralysis
Cyanosis, Stridor, Dysphagia OMIM:150260
Acute Lung Injury
Shock, Hypoxemia, Pneumonia, Tachypnea, Edema, Respiratory distress, Respiratory failure, Diffuse... ORPHA:178320
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency, Tongue fasciculations ORPHA:238329
Van Der Woude Syndrome 1
Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Bifid uvula OMIM:119300
Harlequin Ichthyosis
Sudden cardiac death, Eclabion, Respiratory insufficiency, Dehydration ORPHA:457
Atrial Septal Defect, Ostium Primum Type
Syncope, Abnormal respiratory system physiology, Third heart sound, Exertional dyspnea, Abnormall... ORPHA:99106
Birk-Barel Syndrome
Dysphagia, High palate, Short philtrum, Reduced subcutaneous adipose tissue, Bifid uvula, Tented ... OMIM:612292
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Dehydration, Cardiomyopathy ORPHA:79312
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Syncope, Posteriorly placed tongue, Pierre-Robin sequence, Tac... OMIM:192445
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Premature loss of teeth, Thin vermilion border, Short philtrum OMIM:156510
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Neonatal respiratory distress, Death in infancy, Nonspecific interstitial pneumonia, T... OMIM:610921
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, High palate, Exertional dyspnea, Cyanosis, Orthopnea, Reduced vit... ORPHA:98913
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Protein-losing enteropathy, Hematochezia, Dehydration ORPHA:103910
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
High palate, Macroglossia, Respiratory distress, Ventilator dependence with inability to wean, Re... ORPHA:254864
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Hypoxemia, Systolic heart murmur, Bidirectional shunt, Tricuspid regur... ORPHA:439
Pulmonary Arteriovenous Malformation
Hypoxemia, Telangiectasia, Palpitations, Epistaxis, Pulmonary arterial hypertension, Cough, Pulmo... ORPHA:2038
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Dental Anomalies And Short Stature
Widely spaced teeth, Microdontia, Oligodontia, Mandibular prognathia, Amelogenesis imperfecta, Hy... OMIM:601216
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Dehydration OMIM:143860
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Micrognathia, Short philtrum, Thin vermilion border, Respiratory distress, Oligohydramnios ORPHA:261304
Hypercalcemia, Infantile, 1
Thick lower lip vermilion, Aortic valve stenosis, Dehydration, Pulmonic stenosis OMIM:143880
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla ORPHA:2776
X-Linked Centronuclear Myopathy
High palate, Pneumonia, Polyhydramnios, Respiratory distress, Respiratory failure requiring assis... ORPHA:596
Stickler Syndrome, Type Ii
High, narrow palate, Micrognathia, Cleft palate, Pierre-Robin sequence, Malar flattening, Bifid u... OMIM:604841
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Nonspecific interstitial pneumoni... OMIM:610913
Staphylococcal Necrotizing Pneumonia
Shock, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distres... ORPHA:36238
Pulmonary Non-Tuberculous Mycobacterial Infection
Chronic pulmonary obstruction, Crackles, Pericardial effusion, Bronchiectasis, Pneumothorax, Coug... ORPHA:411703
Oromandibular Dystonia
Abnormal lip morphology, Dysphagia, Impaired mastication, Abnormal mandible morphology, Respirato... ORPHA:93958
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Micrognathia, Death in infancy, Dehydration, Jaundice OMIM:208085
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Pneumonia, Cough, Cyanosis, Decreased DLCO, Restrictive ventilatory defect, Dyspnea OMIM:610910
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent U wave, Syncope, Micrognathia, High palate, Cleft palate, Delayed eruption of permanent... OMIM:170390
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal lip morphology, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Polyhydra... ORPHA:2759
Mandibulofacial Dysostosis With Alopecia
Micrognathia, Cleft palate, Glossoptosis, Delayed eruption of primary teeth, Everted lower lip ve... OMIM:616367
Reticular Dysgenesis
Dehydration, Malabsorption ORPHA:33355
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Hypoxemia, Reduced forced expiratory volume in one second, Pneumonia, Bronchiectasis, Decreased f... ORPHA:1303
20P12.3 Microdeletion Syndrome
Long philtrum, Malar flattening, Narrow mouth, Hypoplasia of the maxilla, Wolff-Parkinson-White s... ORPHA:261295
Robinow Syndrome, Autosomal Dominant 2
Micrognathia, Dental crowding, Long philtrum, Cleft soft palate, Gingival overgrowth, Thin upper ... OMIM:616331
Double Outlet Right Ventricle
Cleft palate, Tachypnea, Tachycardia, Intestinal malrotation, Pulmonic stenosis, Cyanosis, Narrow... ORPHA:3426
Central Diabetes Insipidus
Dehydration, Polydipsia ORPHA:178029
Oculocerebrofacial Syndrome, Kaufman Type
High, narrow palate, Abnormal lip morphology, Smooth philtrum, Micrognathia, Wide mouth, Microdon... ORPHA:2707
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Dehydration, Respiratory insufficiency ORPHA:27
Orofaciodigital Syndrome Type 5
High, narrow palate, Hypodontia, Aganglionic megacolon, Agenesis of canine, Absent cupid's bow, C... ORPHA:2919
Death in infancy, Delayed eruption of teeth, Respiratory distress, Dentinogenesis imperfecta, Ret... ORPHA:166272
Glycogen Storage Disease Of Heart, Lethal Congenital
Ascites, Macroglossia, Bradycardia, Cardiomyopathy, Cyanosis, Pulmonary edema, Congestive heart f... OMIM:261740
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Dysphagia, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respirato... ORPHA:254875
Idiopathic Bronchiectasis
Wheezing, Productive cough, Crackles, Abnormal respiratory system physiology, Bronchiectasis, Hal... ORPHA:60033
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Thin upper lip vermilion, Long philtrum OMIM:614741
Meconium Aspiration Syndrome
Wheezing, Hypoxemia, Pulmonary insufficiency, Atelectasis, Pneumothorax, Pulmonary arterial hyper... ORPHA:70588
Familial Nasal Acilia
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Dyspnea, Atelectasis ORPHA:922
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Respiratory distress, Pulmo... OMIM:617300
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Spastic Paraplegia 81, Autosomal Recessive
Cleft palate, Bifid uvula OMIM:618768
Succinic Acidemia
Respiratory distress OMIM:600335
Rapp-Hodgkin Syndrome
Anhidrotic ectodermal dysplasia, Hypodontia, Cleft palate, Microdontia, Cleft upper lip, Velophar... OMIM:129400
Complete Atrioventricular Septal Defect
Wheezing, Right ventricular failure, Left-to-right shunt, Abnormal P wave, Crackles, Systolic hea... ORPHA:1329
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis OMIM:619466
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hypertension, Esophageal varix, Neonatal death, Oligohydramnios, Portal hypertension, Dehydration OMIM:263200
Aarskog-Scott Syndrome
Cleft palate, Long philtrum, Cleft upper lip, Delayed eruption of teeth, Everted lower lip vermil... ORPHA:915
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Paroxysmal dyspnea, Stridor, Cyanosis, Congestive heart failure, Sev... ORPHA:444013
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Hypodontia, Glossoptosis, Abnormal mandible morphology, Arrhythmia, Submucou... ORPHA:3201
Secondary Short Bowel Syndrome
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Polyphagia, Volvulus,... ORPHA:95427
Alternating Hemiplegia Of Childhood
Dysphagia, Abnormal T-wave, Cardiac conduction abnormality, Apnea, Cardiomyopathy, Respiratory di... ORPHA:2131
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Hypoplasia of the maxilla, Smooth philtrum, Thin upper lip vermilion, Widely-spaced incisors OMIM:618737
Gaucher Disease, Perinatal Lethal
Everted upper lip vermilion, Micrognathia, Dysphagia, Nonimmune hydrops fetalis, Petechiae, Ascit... OMIM:608013
Lethal Omphalocele-Cleft Palate Syndrome
Cleft palate, Cleft soft palate, Bifid uvula, Unilateral cleft lip, Retrognathia ORPHA:2736
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Cleft palate, Long philtrum ORPHA:90653
Lujan-Fryns Syndrome
Micrognathia, High palate, Short philtrum, Abnormality of the dentition, Hypoplasia of the maxill... ORPHA:776
Distal Xq28 Microduplication Syndrome
Thick lower lip vermilion, High palate, Short lingual frenulum, Epistaxis, Open mouth, Asthma, Up... ORPHA:293939
Congenital Disorder Of Glycosylation, Type Ie
Telangiectasia, High, narrow palate, Micrognathia, Smooth philtrum, Respiratory distress OMIM:608799
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Familial Renal Glucosuria
Dehydration ORPHA:69076
Nager Syndrome
Abnormal palate morphology, Micrognathia, Cleft palate, Wide mouth, Respiratory insufficiency, Hy... ORPHA:245
Hypomandibular Faciocranial Dysostosis
Micrognathia, Aglossia, Malar flattening, Pursed lips, Hypoplasia of the maxilla OMIM:241310
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening OMIM:122880
Propionic Acidemia
Tachypnea, Apnea, Cardiomyopathy, Dehydration, Cerebellar hemorrhage OMIM:606054
Craniofaciofrontodigital Syndrome
Pyloric stenosis, Gastrointestinal hemorrhage, Prominent superficial veins, Aortic valve stenosis... ORPHA:363705
Respiratory distress, Cleft palate ORPHA:66637
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Generalized Pseudohypoaldosteronism Type 1
Wheezing, Hypovolemic shock, Cough, Dehydration, Arrhythmia ORPHA:171876
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Cleft palate, Bifid uvula ORPHA:506353
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Anaplastic Thyroid Carcinoma
Dysphagia, Stridor, Cough, Upper airway obstruction, Respiratory distress, Tracheoesophageal fist... ORPHA:142
Respiratory distress, Congenital laryngeal stridor OMIM:150280
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Anal atresia ORPHA:93950
Breath-Holding Spells
Cyanosis OMIM:607578
Beta-Ketothiolase Deficiency
Hypertension, Tachypnea, Edema, Cough, Oral aversion, Dehydration, Hypotension ORPHA:134
Temple Syndrome
Micrognathia, High palate, Cleft palate, Short philtrum, Bifid uvula OMIM:616222
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy ORPHA:26792
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal palate morphology, Hypoplasia of the maxilla, Malar flattening, Respiratory insufficiency ORPHA:93262
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Syncope, Left-to-right shunt, Pneumonia, Systolic heart murmur, Palpit... ORPHA:99104
Frontonasal Dysplasia 1
Hypoplastic frontal sinuses, Median cleft palate, Widely-spaced maxillary central incisors, Hypop... OMIM:136760
Burn-Mckeown Syndrome
Micrognathia, Cleft palate, Short philtrum, Cleft upper lip, Mandibular prognathia, Thin vermilio... OMIM:608572
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum ORPHA:93945
Orofaciodigital Syndrome V
Aganglionic megacolon, Cleft palate, Bifid uvula, Lobulated tongue, Median cleft lip OMIM:174300
Netherton Syndrome
Malabsorption, Urticaria, Asthma, Emphysema, Dehydration ORPHA:634
Micrognathia, Cleft palate, Gingival cleft, Bifid uvula, Polyhydramnios, Unilateral cleft lip, Re... ORPHA:2189
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Syncope, Prominent U wave, Oligodontia, Ventricular arrhythmia, Thin uppe... ORPHA:37553
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress, Intestinal malrotation ORPHA:2140
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Bifid uvula OMIM:601492
Myotonic Dystrophy 1
Dysphagia, Atrial fibrillation, Polyhydramnios, Respiratory distress, Atrial flutter, First degre... OMIM:160900
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Micrognathia, Temporomandibular joint ankylosis, Bifid uvula, Episodic tachy... ORPHA:2872
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Alveolar process hypoplasia, Maxillozygomatic hypoplasia, Eruption failure, Multiple non-erupting... OMIM:273050
Brown-Vialetto-Van Laere Syndrome 1
Dysphagia, Stridor, Respiratory insufficiency, Respiratory distress, Tongue atrophy, Nocturnal hy... OMIM:211530
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate, Micrognathia, Polyhydramnios ORPHA:93316
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Crowded maxillary incisors ORPHA:397973
Diamond-Blackfan Anemia 6
Micrognathia, Cleft palate, Mitral regurgitation, Cleft upper lip, Bifid uvula, Retrognathia, Tra... OMIM:612561
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency OMIM:610773
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Micrognathia, Oligohydramnios, Respiratory insufficiency due to muscle weak... ORPHA:1143
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Nonimmune hydrops fetalis, Esophageal varix, Respiratory insufficiency, A... ORPHA:367
Congenital Tufting Enteropathy
Villous atrophy, Malabsorption, Anal atresia, Abnormal small intestinal mucosa morphology, Abnorm... ORPHA:92050
Thyroid Lymphoma
Dysphagia, Stridor, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:97285
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, High palate OMIM:300676
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Micrognathia, Hypertension OMIM:166300
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Portal hypertension, Dehydration, Malabsorption, Polydipsia ORPHA:213
Isovaleric Acidemia
Dehydration, Cerebellar hemorrhage OMIM:243500
Tetrasomy 5P
Micrognathia, High palate, Long philtrum, Pulmonary arterial hypertension, Respiratory distress, ... ORPHA:3309
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia ORPHA:240085
Lamellar Ichthyosis
Abnormality of the dentition, Dehydration, Everted lower lip vermilion ORPHA:313
Childhood Apraxia Of Speech
Submucous cleft hard palate, High, narrow palate, Drooling ORPHA:209908
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Smooth philtrum, Neonatal respiratory distress, Short philtrum, Death in infancy, Mandibular prog... OMIM:618622
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, High palate ORPHA:85279
Hypoxemia, Pneumonia, Pulmonary hemorrhage, Subcutaneous hemorrhage, Respiratory distress ORPHA:238459
Radio-Renal Syndrome
High, narrow palate, Micrognathia, Respiratory distress, Downturned corners of mouth, Retrognathi... ORPHA:3015
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Narrow mouth ORPHA:1529
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Moebius Syndrome
Micrognathia, High palate, Dysphagia, Bifid uvula, Respiratory distress, Abnormality of the denti... OMIM:157900
Microvillus Inclusion Disease
Hypovolemia, Villous atrophy, Abnormality of small intestinal villus morphology, Dehydration ORPHA:2290
Netherton Syndrome
Abnormal intestine morphology, Allergic rhinitis, Villous atrophy, Angioedema, Hypernatremic dehy... OMIM:256500
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Synaptic Congenital Myasthenic Syndromes
Dysphagia, Neonatal respiratory distress, High palate, Respiratory insufficiency, Impaired mastic... ORPHA:98915
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Mandibular aplasia, Microglossia, Polyhydramnios, Respiratory distress, Narrow mouth ORPHA:990
Colchicine Poisoning
Myocarditis, Dehydration, Cardiogenic shock, Respiratory distress, Cardiorespiratory arrest, Cong... ORPHA:31824
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Hypertension, Oligohydramnios OMIM:616733
Esophageal Atresia
Pyloric stenosis, Restrictive ventilatory defect, Dysphagia, Cleft palate, Chronic pulmonary obst... ORPHA:1199
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Cleft palate, Microdontia, Microglossia, Narrow mouth, Hypoplasia of the maxilla, Mi... ORPHA:1307
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Micrognathia, High palate, Deep philtrum, Polyhydramnios, Respiratory distress, Thin upper lip ve... ORPHA:329178
Chitayat Syndrome
Respiratory distress, Tracheomalacia, Thick vermilion border, Polyhydramnios OMIM:617180
Glucose/Galactose Malabsorption
Hypertonic dehydration, Malabsorption OMIM:606824
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Micrognathia, High palate, Apnea, Deep philtrum, Tented upper lip vermilion, Respiratory distress... ORPHA:314655
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Cleft palate, Bifid uvula OMIM:303400
Sepsis In Premature Infants
Abnormal respiratory system physiology, Petechiae, Edema, Tachycardia, Bradycardia, Jaundice, Cya... ORPHA:90051
Paternal Uniparental Disomy Of Chromosome 6
Micrognathia, High palate, Neonatal respiratory distress, Macroglossia, Gingival overgrowth, Olig... ORPHA:96191
Hypertension, Dysphagia, Tachypnea, Tachycardia, Bradycardia, Respiratory distress, Trismus ORPHA:3299
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Dysphagia, Respiratory insuffi... ORPHA:183
Brachycephaly, Trichomegaly, And Developmental Delay
Thick lower lip vermilion, High palate, Supernumerary tooth, Thin vermilion border, Bifid uvula, ... OMIM:617412
Jackson-Weiss Syndrome
Mandibular prognathia, Abnormal palate morphology, Hypoplasia of the maxilla ORPHA:1540
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Restrictive ventilatory defect, Hypoplasia of the maxilla, High palate OMIM:218000
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla OMIM:608432
Coffin-Siris Syndrome 11
High palate, Wide mouth, Cleft soft palate, Esophageal atresia, Bifid uvula, Downturned corners o... OMIM:618779
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Midgut malrotation, Pulmonary insufficiency, Cleft palate, Short lingual ... ORPHA:2326
Corticosterone Methyloxidase Type I Deficiency
Dehydration, Hypotension OMIM:203400
Hypovolemic shock, Palmoplantar cutis laxa, Tachypnea, Tachycardia, Dehydration, Hyperventilation... ORPHA:173
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Paroxysmal dyspnea, Myocarditis, Crackles, Exe... ORPHA:563
Cardioacrofacial Dysplasia 1
Diastema, Short philtrum, Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla OMIM:619142
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Crackles, Cough, Cyanosis, Decreased DLCO, Restrictive ventilatory defect, Dyspnea ORPHA:747
Multiple Epiphyseal Dysplasia, Lowry Type
Micrognathia, Cleft hard palate ORPHA:166016
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration, Cardiomyopathy, Cerebellar hemorrhage OMIM:251000
Zimmermann-Laband Syndrome 3
Thick lower lip vermilion, High palate, Gingival overgrowth, Bifid uvula OMIM:618658
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Long philtrum, Tricuspid regurgitation, Thick vermilion border, Hypoplasia of the maxilla, Micror... ORPHA:228396
Dopamine Beta-Hydroxylase Deficiency
Syncope, Rhinitis, Orthostatic hypotension, Orthostatic syncope, Abnormal EKG, Dyspnea, Dehydration ORPHA:230
Corticosterone Methyloxidase Type Ii Deficiency
Orthostatic hypotension, Dehydration OMIM:610600
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Dehydration, Hypotension OMIM:264350
Hereditary Methemoglobinemia
Lip discoloration, Exertional dyspnea, Cyanosis ORPHA:621
Avian Influenza
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Respiratory distress, Con... ORPHA:454836
Pneumonia, Cough, Tachycardia, Respiratory distress, Oral ulcer, Pleural effusion ORPHA:3392
Crouzon Disease
Narrow palate, Hypoplasia of the maxilla, Respiratory insufficiency ORPHA:207
Idiopathic/Heritable Pulmonary Arterial Hypertension
Syncope, Palpitations, Elevated jugular venous pressure, Pulmonary arterial hypertension, Tricusp... ORPHA:422
Congenital Fibrinogen Deficiency
Gingival bleeding, Volvulus, Tachycardia, Subcutaneous hemorrhage, Cyanosis, Internal hemorrhage,... ORPHA:335
Mandibulofacial Dysostosis-Microcephaly Syndrome
Micrognathia, Cleft palate, Accessory oral frenulum, Malar flattening, Hypoplasia of the maxilla ORPHA:79113
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Micrognathia, High palate, Pulmonic stenosis, Cyanosis, Thin upper lip vermilion ORPHA:3304
Congenital Tracheomalacia
Wheezing, Productive cough, Neonatal respiratory distress, Stridor, Respiratory insufficiency, Tr... ORPHA:95430
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Dehydration, Hypotension ORPHA:556030
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Smooth philtrum, Stomatitis, Subdural hemorrhage, Pulmonary arterial hype... ORPHA:79282
Branchial cyst, Hypertension, Micrognathia, Polydipsia, Dehydration ORPHA:2260
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Tachypnea, Edema, Apnea, Cardiac arrest, Dehydration, Hypotension, Jaundice ORPHA:20
Primary Dystonia, Dyt4 Type
Respiratory distress, Dysphagia, Movement abnormality of the tongue, Open mouth ORPHA:98805
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, High palate, Respiratory insufficiency, Tongue fasciculations ORPHA:1145
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Ethylene Glycol Poisoning
Shock, Hypertension, Episodic respiratory distress, Prolonged QT interval, Abnormal pattern of re... ORPHA:31826
Bifid Uvula
Cleft lip, Bifid uvula, Submucous cleft soft palate ORPHA:99771
Amish Lethal Microcephaly
Cleft soft palate, Micrognathia, Death in infancy ORPHA:99742
Nipah Virus Disease
Respiratory distress, Cough, Hypotension ORPHA:99825
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Micrognathia, Cleft palate, Malar flattening OMIM:108721
Mohr Syndrome
Agenesis of central incisor, High palate, Cleft palate, Micrognathia, Tongue nodules, Accessory o... OMIM:252100
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Submucous cleft hard palate, Pulmonic stenosis OMIM:619239
Coffin-Lowry Syndrome
Widely spaced teeth, Thick lower lip vermilion, Hypodontia, High palate, Death in early adulthood... ORPHA:192
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Cleft palate, Macroglossia, Bifid uvula, Cutis marmorata, Retrognath... OMIM:612938
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Stridor, Pneumonia, Pneumothorax, Edema, Bradycardia, Abnormal oral mucos... ORPHA:79404
Intestinal Botulism
Dysphagia, Death in infancy, Xerostomia, Respiratory insufficiency due to muscle weakness, Dyspnea ORPHA:178481
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Micrognathia, Long philtrum, Abnormal dental ... OMIM:257850
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Tachypnea, Cough, Respiratory distr... OMIM:610978
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration, Hypotension OMIM:177735
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Restrictive ventilatory defect, Hypoxemia, Respiratory insufficiency, ... ORPHA:60025
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, High palate, Generalized edema OMIM:271225
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Abnormal QRS complex, Abnormality of blood circulation, Tachypnea, Tachycardia, Cyanos... ORPHA:860
Osteolysis Syndrome, Recessive
Hypoplasia of the maxilla OMIM:259610
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cerebral hemorrhage, Ischemic stroke, Conjunctival telangiectasia, Spontaneous, recurrent epistax... OMIM:610655
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Dysphagia ORPHA:240103
Laryngeal Web, Familial
Respiratory distress, Stridor OMIM:150360
Martsolf Syndrome 1
Micrognathia, High palate, Short philtrum, Tooth malposition, Cardiomyopathy, Cardiac arrest, Con... OMIM:212720
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, High palate, Smooth philtrum, Long philtrum, Tricuspid regurgitation, Respir... OMIM:612863
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Submucous cleft hard palate, Trismus OMIM:609166
Hypomandibular Faciocranial Dysostosis
Cleft palate, Death in infancy, Maxillozygomatic hypoplasia, Aplasia/Hypoplasia of the tongue, Bi... ORPHA:1790
Melanocytic Nevus Syndrome, Congenital
Long philtrum, Deep philtrum, Everted lower lip vermilion, Open mouth, Prominence of the premaxilla OMIM:137550
Respiratory distress ORPHA:673
Micrognathia, Cleft palate, Respiratory insufficiency, Respiratory distress, Increased nuchal tra... OMIM:608022
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Cardiac conduction abnormality, Exertional dyspnea, Supraventricular arrhyth... ORPHA:99105
Lowry-Maclean Syndrome
Pyloric stenosis, High, narrow palate, Midgut malrotation, Cleft palate, Micrognathia, Talon cusp... ORPHA:2409
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Pericardial effusion, Pneumonia, Tachypnea, Atriov... ORPHA:26793
Osteootohepatoenteric Syndrome
Villous atrophy, Ileoileal intussusception, Asthma, Prolonged neonatal jaundice, Dehydration OMIM:619377
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Median cleft lip, High palate, Bifid uvula OMIM:155145
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Pericardial effusion, Systolic heart murmur, Tachypnea, Tricuspid regurgitation, Cyano... ORPHA:555874
Telangiectasia, Hereditary Hemorrhagic, Type 1
Spontaneous, recurrent epistaxis, Melena, Exertional dyspnea, Transient ischemic attack, Nasal mu... OMIM:187300
Absence Of The Pulmonary Artery
Hypocapnia, Reduced ejection fraction, Systolic heart murmur, Bronchiectasis, Atrial fibrillation... ORPHA:980
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Respiratory distress, Widely spaced teeth OMIM:617102
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Temtamy Preaxial Brachydactyly Syndrome
Hypodontia, Micrognathia, Microdontia, Oligodontia, Talon cusp, Tooth malposition, Widely-spaced ... ORPHA:363417
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough, Cardiomyopathy ORPHA:86812
Cystic Fibrosis
Rectal prolapse, Reduced forced expiratory volume in one second, Bronchiectasis, Decreased forced... OMIM:219700
Histiocytoid Cardiomyopathy
Cleft palate, Atrial fibrillation, Tachypnea, Atrioventricular block, Ventricular tachycardia, Su... ORPHA:137675
Emanuel Syndrome
Micrognathia, High palate, Cleft palate, Ectopic anus, Dysphagia, Long philtrum, Submucous cleft ... ORPHA:96170
Kagami-Ogata Syndrome
Micrognathia, Long philtrum, Pulmonary arterial hypertension, Polyhydramnios, Pulmonic stenosis, ... OMIM:608149
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Criss-Cross Heart
Respiratory insufficiency, Tricuspid stenosis, Supravalvular aortic stenosis, Mitral stenosis, Pu... ORPHA:1461
Congenital Tracheal Stenosis
Wheezing, Fetal ascites, Meckel diverticulum, Duodenal atresia, Duodenal stenosis, Abnormal stoma... ORPHA:141127
Keipert Syndrome
Tented upper lip vermilion, Hypoplasia of the maxilla, Exaggerated cupid's bow ORPHA:2662
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Respiratory distress, Prolonged neonatal jaundice, Bradycardia ORPHA:226313
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Cyanosis OMIM:252320
Oculofaciocardiodental Syndrome
Abnormal palate morphology, Cleft palate, Oligodontia, Long philtrum, Solitary median maxillary c... ORPHA:2712
Arterial Tortuosity Syndrome
Pyloric stenosis, Dilated cardiomyopathy, Myocarditis, Hypertrophic cardiomyopathy, Hypertension,... ORPHA:3342
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Hypodontia, High palate, Prominent superficial veins, Bifid uvula, Delayed eruption of teeth, Den... OMIM:612350
Aortic Arch Interruption
Shock, Hypertension, Systolic heart murmur, Tachypnea, Aortic regurgitation, Tricuspid regurgitat... ORPHA:2299
Carious teeth, Hypodontia, High palate, Delayed eruption of permanent teeth, Micrognathia, Obstru... ORPHA:763
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Micrognathia, Cleft palate, Bifid uvula, Delayed eruption of teeth, Retrogna... ORPHA:2780
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Dysphagia, Microretrognathia ORPHA:89844
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Micrognathia, Cleft palate, Neonatal respiratory distress, Pierre-Robin sequence, Cardiomyopathy,... OMIM:217980
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia OMIM:601809
Telangiectasia, Hereditary Hemorrhagic, Type 2
Spontaneous, recurrent epistaxis, Melena, Transient ischemic attack, Nasal mucosa telangiectasia,... OMIM:600376
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Micrognathia, Smooth philtrum, Esophageal atresia OMIM:614526
Kleefstra Syndrome 2
Bifid uvula, Everted lower lip vermilion OMIM:617768
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Odontogenic neoplasm, Death in infancy, Abnormal dental enamel morphology, Delayed... ORPHA:534
Neuroleptic Malignant Syndrome
Hypertension, Dysphagia, Excessive salivation, Dehydration, Hypertensive crisis, Drooling, Tachyc... ORPHA:94093
Ear-Patella-Short Stature Syndrome
High, narrow palate, Micrognathia, Cleft palate, Mandibular aplasia, Bifid uvula, Respiratory dis... ORPHA:2554
Premature Aging Syndrome, Penttinen Type
Hypoplasia of the maxilla, Micrognathia, Thin vermilion border, Delayed eruption of teeth OMIM:601812
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Dehydration OMIM:251110
Odontochondrodysplasia 1
Death in infancy, Long philtrum, Delayed eruption of teeth, Respiratory distress, Dentinogenesis ... OMIM:184260
8Q22.1 Microdeletion Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft hard palate, Long philtrum ORPHA:178303
Adult Acute Respiratory Distress Syndrome
Shock, Hypoxemia, Pneumonia, Abnormal blood gas level, Vasculitis, Pulmonary edema, Respiratory f... ORPHA:70578
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, High, narrow palate, Micrognathia, Short phil... OMIM:216550
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Progeroid facial appearance, Hypoplasia of the maxilla OMIM:608154
Ciliary Dyskinesia, Primary, 2
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Respiratory distress, Immotile cilia OMIM:606763
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Pyloric stenosis, Micrognathia, High palate, Cleft palate, Short philtrum, Bifid uvula, Narrow mouth ORPHA:96184
Craniolenticulosutural Dysplasia
Carious teeth, High palate, Smooth philtrum, Microdontia, Wide mouth, Long philtrum, Premature lo... ORPHA:50814
Schilbach-Rott Syndrome
Bifid uvula, Micrognathia, Narrow mouth, Submucous cleft hard palate OMIM:164220
Autosomal Recessive Centronuclear Myopathy
High palate, Respiratory insufficiency, Bifid uvula, Narrow mouth, Retrognathia ORPHA:169186
Marshall Syndrome
Thick lower lip vermilion, Micrognathia, High palate, Cleft palate, Long philtrum, Hypoplastic fr... ORPHA:560
Pde4D Haploinsufficiency Syndrome
Micrognathia, Short philtrum, Long philtrum, Mandibular prognathia, Malar flattening, Abnormal de... ORPHA:439822
Renal Dysplasia-Limb Defects Syndrome
Micrognathia, High palate, Pneumothorax, Neonatal death, Thin vermilion border, Respiratory distr... OMIM:266910
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Polyhydramnios OMIM:618188
Chiari Malformation Type Ii
Cyanosis, Dysphagia, Inspiratory stridor OMIM:207950
Familial Dilated Cardiomyopathy
Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, Palpitations, Reduced ejection... ORPHA:217607
Apert Syndrome
Hypertension, Cleft palate, Ectopic anus, Respiratory insufficiency, Mandibular prognathia, Esoph... ORPHA:87
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Respiratory insufficiency, Macroglossia, Respiratory insufficiency d... ORPHA:308552
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Acrocyanosis, Intestinal obstruction, Gastrointestinal hemorrhage, Vasculitis, Urticari... ORPHA:343
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Orofaciodigital Syndrome Type 2
Peg-shaped maxillary lateral incisors, Agenesis of central incisor, Cleft palate, High palate, Mi... ORPHA:2751
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Myocarditis, Hypovolemic shock, Pneumonia, Acute colitis, Intestinal perforation, Urticaria, Para... ORPHA:810
Renal Hypoplasia
Hypertension, Dehydration, Polydipsia ORPHA:93101
Myhre Syndrome
Hypertension, Abnormal lip morphology, Cleft palate, Mandibular prognathia, Gingival cleft, Thin ... ORPHA:2588
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Dehydration OMIM:251100
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Micrognathia, High palate, Short philtrum, Deep philtrum, Open mouth, Thin upper lip vermilion, H... OMIM:309520
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Thick lower lip vermilion, Long philtrum, Atrioventricular block, Bradycardia, Acrocyanosis OMIM:614407
Carnitine-Acylcarnitine Translocase Deficiency
Sudden episodic apnea, Respiratory insufficiency, Ventricular tachycardia, Cardiomyopathy, Cyanos... ORPHA:159
Cowden Syndrome 5
Micrognathia, High palate, Furrowed tongue, Colonic diverticula, Narrow mouth, Subcutaneous lipom... OMIM:615108
Treacher-Collins Syndrome
Micrognathia, Cleft palate, High palate, Wide mouth, Open bite, Respiratory insufficiency, Rectov... ORPHA:861
High palate, Edema, Apnea, Polyhydramnios, Respiratory distress, Pulmonary edema, Hypoventilation... ORPHA:79330
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension, Cleft palate, Hypoplasia of the zygomatic bone, Malar flattening, Narrow palate, Re... ORPHA:1555
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, High palate, Antenatal intracerebral hemorrhage, Respiratory insufficienc... OMIM:608836
Oculopharyngodistal Myopathy 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, High palate,... OMIM:164310
Cri-Du-Chat Syndrome
Thick lower lip vermilion, High palate, Short philtrum, Abnormal respiratory system physiology, B... OMIM:123450
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Widely spaced teeth, High palate, Wide mouth, Microdontia, Macroglossia, Accessory oral frenulum,... OMIM:266920
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Hypodontia, Edema of the dorsum of hands, Edema of the dorsum of feet ORPHA:544503
Zimmermann-Laband Syndrome
Hypodontia, High palate, Cleft palate, Wide mouth, Micrognathia, Macroglossia, Supernumerary toot... ORPHA:3473
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla, Cleft palate OMIM:614261
Axenfeld-Rieger Syndrome, Type 2
Hypodontia, Short philtrum, Microdontia, Mandibular prognathia, Everted lower lip vermilion, Hypo... OMIM:601499
Tricuspid Atresia
Cyanosis ORPHA:1209
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Smooth philtrum, Cleft palate, Long philtrum, Velopharyngeal insufficiency, Thin vermilion border... OMIM:614701
Congenital Enterovirus Infection
Myocarditis, Fetal ascites, Pericardial effusion, Cardiomyopathy, Polyhydramnios, Respiratory dis... ORPHA:292
Arthrogryposis, Distal, Type 3
Micrognathia, High palate, Cleft palate, Bifid uvula, Submucous cleft hard palate OMIM:114300
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Pericardial effusion, Ascites, Atrioventricular block, Left... OMIM:115197
Mandibulofacial Dysostosis, Guion-Almeida Type
Micrognathia, Cleft palate, Malar flattening, Esophageal atresia, Deep philtrum, Respiratory dist... OMIM:610536
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Dehydration OMIM:560000
Meier-Gorlin Syndrome 4
Thick lower lip vermilion, Micrognathia, Narrow mouth, Hypoplasia of the maxilla, Emphysema OMIM:613804
Lujo Hemorrhagic Fever
Myocarditis, Shock, Ecchymosis, Dysphagia, Crackles, Rhinitis, Subconjunctival hemorrhage, Bradyc... ORPHA:319213
Eisenmenger Syndrome
Wheezing, Right ventricular failure, Syncope, Left-to-right shunt, Ventricular arrhythmia, Exerti... ORPHA:97214
Dend Syndrome
Downturned corners of mouth, Dehydration, Long philtrum ORPHA:79134
Buratti-Harel Syndrome
High palate, Velopharyngeal insufficiency, Bifid uvula, Recurrent pneumonia, Submucous cleft hard... OMIM:619314
Nablus Mask-Like Facial Syndrome
High palate, Smooth philtrum, Long philtrum, Narrow mouth, Thin upper lip vermilion, Retrognathia... OMIM:608156
Waardenburg Syndrome Type 3
Tented upper lip vermilion, Tracheomalacia, Acrocyanosis, Atelectasis ORPHA:896
Spondyloepiphyseal Dysplasia Congenita
Cleft palate, Pierre-Robin sequence, Malar flattening, Bifid uvula, Respiratory distress, Restric... OMIM:183900
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Hypodontia, Everted upper lip vermilion, Microdontia, Rhinitis, Conical tooth, Abnormal oral muco... OMIM:305100
Cowden Syndrome 6
Micrognathia, High palate, Furrowed tongue, Colonic diverticula, Narrow mouth, Subcutaneous lipom... OMIM:615109
Acrofacial Dysostosis, Cincinnati Type
Hypoplasia of the maxilla, Micrognathia, Cleft palate, Retrognathia OMIM:616462
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cyanosis, Dysphagia ORPHA:391428
Craniosynostosis And Dental Anomalies
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of teeth OMIM:614188
Acrocephalopolysyndactyly Type Iii
Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening, Dental crowding OMIM:101120
Dysostosis, Stanescu Type
Carious teeth, Abnormal palate morphology, Macroglossia, Hypoplasia of the zygomatic bone, Abnorm... ORPHA:1798
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, Mitral regurgitation, Tricuspid regurg... ORPHA:75249
Kniest Dysplasia
Respiratory distress, Tracheomalacia, Cleft palate, Malar flattening OMIM:156550
Tetrasomy 12P
Long philtrum, Thick upper lip vermilion, Delayed eruption of teeth, Anal atresia, Abnormal soft ... ORPHA:884
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal palate morphology, Narrow mouth, Prominence of the premaxilla, Malar flattening ORPHA:2412
Craniosynostosis 2
Cleft soft palate, Supernumerary tooth OMIM:604757
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Micrognathia, High palate, Smooth philtrum, Diastema, Mandibular prognathia, Furrowed tongue, Thi... OMIM:300534
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft lip, Unilateral cleft palate, Micrognathia, Submucous cleft hard palate OMIM:619122
Diamond-Blackfan Anemia 10
Respiratory distress, Micrognathia, Cleft palate, Malar flattening OMIM:613309
Pai Syndrome
Median cleft lip, Cleft palate, Bifid uvula, Abnormal oral frenulum morphology ORPHA:1993
Temple Syndrome
Bifid uvula, Polyphagia ORPHA:254516
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, High palate, Bradycardia, Pulmonary arterial hypertension OMIM:619272
Orofaciodigital Syndrome Iii
Microdontia, Tongue nodules, Supernumerary tooth, Bifid uvula, Bifid tongue OMIM:258850
Rodrigues Blindness
Tooth malposition, Nasal flaring, Ectodermal dysplasia OMIM:268320
Eosinophilic Fasciitis
Acrocyanosis, Edema, Muscular edema ORPHA:3165
Axenfeld-Rieger Syndrome
Hypodontia, Microdontia, Everted lower lip vermilion, Hypoplasia of the maxilla, Anal stenosis ORPHA:782
Branchioskeletogenital Syndrome
Carious teeth, Premature loss of teeth, Short philtrum, Mandibular prognathia, Thin vermilion bor... ORPHA:1299
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Xerostomia, Cough, Abnormality of dental morphology, Thick vermilion border, Abnormali... ORPHA:238468
Progeria-Short Stature-Pigmented Nevi Syndrome
Hypodontia, Micrognathia, Lack of facial subcutaneous fat, Progeroid facial appearance, Bifid uvu... ORPHA:2959
Diffuse Cutaneous Systemic Sclerosis
Carious teeth, Dysphagia, Xerostomia, Pulmonary arterial hypertension, Hypertensive crisis, Malab... ORPHA:220393
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Micrognathia, Submucous cleft hard palate, Bifid uvula, Delayed eruption of teeth, Polyhydramnios... OMIM:300990
Atrioventricular Septal Defect 3
Hypertension, Pulmonary arterial hypertension, Cyanosis, Congestive heart failure, First degree a... OMIM:600309
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Cleft upper lip, Cleft palate, Bifid uvula OMIM:300958
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Palpebral edema, Polyhydramnios, Long philtrum ORPHA:50810
Cocaine Intoxication
Wheezing, Ventricular arrhythmia, Pulmonary edema, Diffuse alveolar hemorrhage, Hyperventilation,... ORPHA:90068
Angelman Syndrome
Widely spaced teeth, Wide mouth, Macroglossia, Mandibular prognathia, Drooling, Hypoplasia of the... OMIM:105830
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Widely spaced teeth, Hypodontia, Cleft palate, Cleft upper lip, Conical tooth, Selective tooth ag... OMIM:106260
Hyperphosphatasia-Intellectual Disability Syndrome
Telangiectasia, Micrognathia, Aganglionic megacolon, High palate, Short philtrum, Mandibular prog... ORPHA:247262
Pfeiffer Syndrome Type 2
High palate, Cleft palate, Malar flattening, Intestinal malrotation, Anal atresia, Respiratory di... ORPHA:93259
Van Den Ende-Gupta Syndrome
High, narrow palate, High palate, Cleft palate, Stridor, Malar flattening, Everted lower lip verm... OMIM:600920
Wolcott-Rallison Syndrome
Dehydration, Ascites, Jaundice ORPHA:1667
Mercury Poisoning
Hypertension, Interstitial pneumonitis, Tachycardia, Respiratory distress, Respiratory failure, D... ORPHA:330021
Stickler Syndrome, Type I
Cleft palate, Pierre-Robin sequence, Malar flattening, Bifid uvula, Submucous cleft hard palate OMIM:108300
Marshall-Smith Syndrome
Hypertension, Irregular dentition, Eclabion, Short philtrum, Recurrent aspiration pneumonia, Obst... OMIM:602535
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Leigh Syndrome With Cardiomyopathy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Dysphagia, Mitral regurgitation, Cardiac con... ORPHA:70474
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
High palate, Tented upper lip vermilion, Abnormality of primary teeth, Respiratory distress, Thin... ORPHA:438216
Cleidocranial Dysplasia
High, narrow palate, Micrognathia, High palate, Cleft palate, Delayed eruption of permanent teeth... OMIM:119600
Campomelic Dysplasia
Micrognathia, Cleft palate, Tracheobronchomalacia, Apnea, Polyhydramnios, Respiratory distress OMIM:114290
Meckel Syndrome 12
Micrognathia, Oligohydramnios, Bifid uvula OMIM:616258
Van Maldergem Syndrome 1
Irregular dentition, High palate, Micrognathia, Malar flattening, Anal atresia, Tented upper lip ... OMIM:601390
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, High palate, Respiratory insufficiency due to muscle weakness, Exert... OMIM:220110
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Cree Mental Retardation Syndrome
Cleft soft palate, Micrognathia OMIM:606851
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension, Palmoplantar cutis laxa, Malar flattening, Narrow palate, Respiratory distress, Nar... OMIM:123790
Crouzon Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Dental crowding, Sleep apnea OMIM:123500
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hypertrophic cardiomyopathy, High palate, Long philtrum, Tented upper lip vermilion, Respiratory ... OMIM:619383
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypertonic dehydration, Polydipsia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypertonic dehydration, Polydipsia OMIM:304800
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Micrognathia, Smooth philtrum, Cleft palate, Long philtrum, Bifid uvula, Deep philtrum, Intestina... ORPHA:404440
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Micrognathia, Cyanotic episode ORPHA:284417
Open bite, Mandibular prognathia, Delayed eruption of teeth, Open mouth, Hypoplasia of the maxilla ORPHA:950
Cerebrofacioarticular Syndrome
Irregular dentition, Micrognathia, Pulmonic stenosis, Tracheomalacia, Narrow mouth, Anteriorly pl... ORPHA:314679
Ascites, Respiratory insufficiency due to muscle weakness, Erythema, Malabsorption, Subcutaneous ... ORPHA:97282
Hutchinson-Gilford Progeria Syndrome
Mitral stenosis, Delayed eruption of teeth, Raynaud phenomenon, Generalized abnormality of skin, ... ORPHA:740
Tarp Syndrome
Micrognathia, Cleft palate, Alveolar ridge overgrowth, Pierre-Robin sequence, Tongue nodules, Apn... ORPHA:2886
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea OMIM:261680
Idiopathic Pulmonary Arterial Hypertension
Syncope, Palpitations, Pulmonary arterial hypertension, Tricuspid regurgitation, Elevated pulmona... ORPHA:275766
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Dysphagia, Respiratory insufficiency, Macroglossia, Impaired mastica... ORPHA:365
Inhalational Anthrax
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension ORPHA:247257
Loeys-Dietz Syndrome 4
High, narrow palate, High palate, Pneumothorax, Bifid uvula, Eosinophilic infiltration of the eso... OMIM:614816
Van Maldergem Syndrome 2
Irregular dentition, High palate, Micrognathia, Malar flattening, Tented upper lip vermilion, Dow... OMIM:615546
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Smooth philtrum, Short philtrum, Cleft soft palate, Oligohydramnios, Retrognathia ORPHA:293725
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Thick lower lip vermilion, Wide mouth, Mandibular prognathia, Unilateral cleft lip, Unilateral cl... OMIM:619103
Elsahy-Waters Syndrome
Thick lower lip vermilion, High palate, Long philtrum, Mandibular prognathia, Malar flattening, B... OMIM:211380
W Syndrome
Broad uvula, Agenesis of maxillary central incisor, Upper lip pit, Submucous cleft hard palate ORPHA:2804
Geroderma Osteodysplasticum
Progeroid facial appearance, Mandibular prognathia, Malar flattening, Periodontitis, Hypoplasia o... OMIM:231070
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea, Protruding tongue, Drooling OMIM:619580
Prader-Willi Syndrome Due To Translocation
Carious teeth, Micrognathia, High palate, Cleft palate, Wide mouth, Triangular-shaped open mouth,... ORPHA:177907
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress, Long philtrum OMIM:617895
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Widely spaced teeth, Hypodontia, Cleft palate, Micrognathia, Abnormal dental enamel morphology, D... ORPHA:1071
Nasolacrimal Duct Cyst
Abnormal breath sound, Paroxysmal dyspnea, Stridor, Episodic respiratory distress, Intercostal re... ORPHA:141083
Cowden Syndrome 1
Micrognathia, High palate, Furrowed tongue, Colonic diverticula, Narrow mouth, Subcutaneous lipom... OMIM:158350
Pearson Syndrome
Dysphagia, Cutaneous photosensitivity, Cardiac conduction abnormality, Median cleft lip and palat... ORPHA:699
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Micrognathia, Cleft palate, Pierre-Robin sequence, Pulmonary arterial hyp... OMIM:614921
Toxic Epidermal Necrolysis
Dysphagia, Excessive salivation, Polydipsia, Intestinal perforation, Erythema, Malabsorption, Cou... ORPHA:537
Lysosomal Acid Lipase Deficiency
Esophageal varix, Ascites, Pulmonary arterial hypertension, Steatorrhea, Hypovolemia, Dehydration... ORPHA:275761
Diarrhea 1, Secretory Chloride, Congenital
Dehydration, Polyhydramnios OMIM:214700
Multiple Carboxylase Deficiency
Tachypnea, Respiratory distress ORPHA:148
Spinocerebellar Ataxia, X-Linked 3
Episodic hypoventilation, Dysphagia, Death in infancy, Episodic respiratory distress OMIM:301790
Osteopathia Striata With Cranial Sclerosis
Thick lower lip vermilion, Micrognathia, High palate, Cleft palate, Pierre-Robin sequence, Cleft ... OMIM:300373
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Neonatal asphyxia, Dehydration, Hypotension ORPHA:90791
Loeys-Dietz Syndrome 5
Smooth philtrum, High palate, Cleft palate, Mitral regurgitation, Cleft soft palate, Reduced subc... OMIM:615582
Limb-Mammary Syndrome
Hypodontia, Cleft palate, Bifid uvula OMIM:603543
Pfeiffer Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Dental crowding OMIM:101600
Cerebrocostomandibular Syndrome