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 predicted to be associated to Kcnj2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Temporomandibular joint ankylosis, Cleft palate, Aspiration pneumonia, Micr... ORPHA:141152
Cleft Velum
Velopharyngeal insufficiency, Aspiration pneumonia, Hypoplasia of the maxilla, Cleft soft palate,... ORPHA:99772
Pierre Robin Syndrome
Cleft palate, Glossoptosis, Micrognathia, Upper airway obstruction, Neonatal respiratory distress... OMIM:261800
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Pharyngeal edema, Facial edema, Tongue edema, Palpebral edema, Erythema, An... ORPHA:100057
Orofacial Cleft 13
Malar flattening, Retrognathia, Micrognathia, Oligodontia, Cleft soft palate OMIM:613857
Cholesterol Pneumonia
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia OMIM:215030
Perching Syndrome
High palate, Dysphagia, Respiratory distress OMIM:617055
Isolated Pierre Robin Syndrome
Cleft palate, Glossoptosis, Micrognathia, Upper airway obstruction, Neonatal respiratory distress ORPHA:718
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Gingival overgrowth, Retrognathia, Micrognathia, Gingival fibromatosis, Med... ORPHA:1832
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration, Villous atrophy, Death in infancy, Abnormal intestine morphology OMIM:251850
Neuralgic Amyotrophy
Respiratory insufficiency, Narrow mouth, Acrocyanosis, Cleft palate ORPHA:2901
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chylopericardium, Tricuspid regurgitation, Chronic pulmonary obstruction, P... ORPHA:2414
Chronic Hiccup
Dehydration, Abnormal eating behavior ORPHA:396
Cyanosis And Hepatic Disease
Dyspnea, Cyanosis OMIM:219400
Apnea, Central Sleep
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration OMIM:207720
Phosphoserine Aminotransferase Deficiency
Apnea, Death in infancy, Cyanotic episode OMIM:610992
Laryngotracheal Angioma
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Lactase Deficiency, Congenital
Dehydration, Decreased small intestinal mucosa lactase level, Lactose intolerance OMIM:223000
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Neonatal death, Dysphagia, Pulmonary arterial hyperte... OMIM:619751
Laryngotracheoesophageal Cleft
Impaired oropharyngeal swallow response, Cyanosis, Cough, Aspiration, Neonatal respiratory distre... ORPHA:2004
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Micrognathia, Polyhydramnios, Dilated cardiomyopathy, Respiratory insuffici... OMIM:300580
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia, Micrognathia, Polyhydramnios, Edema ORPHA:1423
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Dehydration, Recurrent pneumonia, Edema OMIM:616069
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis, Hypertrophic cardiomyopathy, Low-output congestive heart failure ORPHA:91130
Hereditary Angioedema Type 1
Intestinal edema, Pharyngeal edema, Urticaria, Dermatographic urticaria, Facial edema, Respirator... ORPHA:100050
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
High palate, Respiratory distress, Cleft palate, Respiratory insufficiency, Restrictive ventilato... OMIM:614399
Auriculocondylar Syndrome 3
Glossoptosis, Micrognathia, Retrognathia, Bifid uvula OMIM:615706
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Cleft palate, Retrognathia, Micrognathia, Bifid uvula, Mandibular prognathia, Submucous cleft har... ORPHA:2521
Solar Urticaria
Urticaria, Dermatographic urticaria, Syncope, Wheezing, Angioedema, Edema, Periorbital edema, Abn... ORPHA:97230
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Cyanosis, Tachycardia, Hypotension, Tachypnea, Respiratory failure, Pneumonia, H... ORPHA:70587
Pleural Mesothelioma
Respiratory distress, Cough, Abnormal cardiovascular system physiology, Pleural effusion, Dysphag... ORPHA:50251
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Hydrops f... ORPHA:45452
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dehydration, Dilated cardiomyopathy ORPHA:79159
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Bronchopulmonary Dysplasia
Respiratory distress, Hyperoxemia, Right ventricular failure, Abnormal respiratory system physiol... ORPHA:70589
Asbestos Intoxication
Oxygen desaturation on exertion, Reduced vital capacity, Exertional dyspnea, Nonproductive cough,... ORPHA:2302
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Syncope, Ta... ORPHA:60032
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Pulmonary edema, Tachypnea, Edema, Neonatal respiratory distress, Dyspnea OMIM:267450
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Cleft palate OMIM:258320
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Cough, Tachypnea, Intercostal retractions, Reduced forced vital c... ORPHA:91359
Split-Hand/Foot Malformation 3
High palate, Narrow mouth, Microretrognathia, Cleft palate, Hypoplasia of the maxilla OMIM:246560
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Cough, Tachypnea, Respiratory failure OMIM:263000
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Cryptogenic Organizing Pneumonia
Respiratory distress, Nonproductive cough, Cyanosis, Crackles, Wheezing, Pneumothorax, Cough, Res... ORPHA:1302
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Hypoglossia With Situs Inversus
High palate, Respiratory distress, Narrow mouth, Hypodontia, Micrognathia, Upper airway obstructi... OMIM:612776
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Primary Pulmonary Hypoplasia
Apnea, Asthma, Cleft palate, Micrognathia, Cyanosis, Tachypnea, Pneumothorax, Abnormal breath sou... ORPHA:2257
Intellectual Developmental Disorder, X-Linked 90
High palate, Bifid uvula, Malar flattening OMIM:300850
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... OMIM:254210
Combined Oxidative Phosphorylation Deficiency 47
Dysphagia, Dehydration, Long philtrum OMIM:618958
Gaucher Disease Type 2
Respiratory distress, Cough, Dysphagia, Abnormal pattern of respiration, Cardiac arrest ORPHA:77260
Familial Cold Urticaria
Dehydration, Urticaria, Erythema, Polydipsia ORPHA:47045
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Arthrogryposis, Distal, Type 1C
High palate, Narrow mouth, Pursed lips, Cleft palate, Thin vermilion border, Retrognathia, Bifid ... OMIM:619110
Congenital Disorder Of Glycosylation, Type Iu
High palate, Respiratory distress, Micrognathia, Death in infancy, Neonatal respiratory distress,... OMIM:615042
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Cerebrooculofacioskeletal Syndrome 1
Thin vermilion border, Micrognathia, Death in childhood, Dehydration, Long philtrum, Delayed erup... OMIM:214150
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... OMIM:605809
Congenital Disorder Of Glycosylation, Type Iy
Widely spaced teeth, Wide mouth, Micrognathia, Respiratory distress OMIM:300934
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Cyanosis, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dysp... OMIM:265120
Maxillonasal Dysplasia
Tooth agenesis, Cleft palate, Open bite, Microdontia, Hypoplasia of the maxilla, Mandibular progn... ORPHA:1248
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Adducted Thumbs Syndrome
High palate, Velopharyngeal insufficiency, High, narrow palate, Cleft palate, Respiratory insuffi... OMIM:201550
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hypertrophic cardiomyopathy, Death in infancy OMIM:604377
Auriculocondylar Syndrome
Respiratory distress, Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Micrognathia... ORPHA:137888
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Alveolar pr... ORPHA:2972
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crackles, Tachycardia, Acute infectious pneumonia, Tachypnea, Respiratory f... ORPHA:264675
Choanal Atresia
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... ORPHA:137914
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency, Tongue fasciculations ORPHA:238329
Anencephaly 2
Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
Vitamin B12-Responsive Methylmalonic Acidemia
Respiratory insufficiency, Dehydration ORPHA:28
Acquired Methemoglobinemia
Respiratory distress, Palpitations, Tachycardia, Arrhythmia, Cyanosis, Syncope, Hypoxemia, Dyspnea ORPHA:464453
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Tachycardia, Syncope, Pierre-Robin sequence, Posteriorly place... OMIM:192445
Autosomal Agammaglobulinemia
High palate, Malabsorption, Sinusitis, Dehydration, Cough, Bronchiectasis ORPHA:33110
Enteric Anendocrinosis
Dehydration, Malabsorption, Portal hypertension ORPHA:83620
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Airway obstruction, Systolic heart murmur, Pedal edema, Pneumonia, T... ORPHA:99103
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Hemothorax, Right ventricular failure, Cyanosis, Elevated pulmonary artery press... ORPHA:199241
Restrictive Dermopathy 2
Respiratory distress, Microretrognathia, Cyanosis, Rectal prolapse, Hypoplastic facial bones OMIM:619793
Transient Neonatal Diabetes Mellitus
Dehydration, Macroglossia ORPHA:99886
Laryngeal Abductor Paralysis
Dysphagia, Cyanosis, Stridor OMIM:150260
Congenital Myasthenic Syndrome
High palate, Episodic respiratory distress, Microretrognathia, Respiratory arrest, Central sleep ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
High palate, Episodic respiratory distress, Microretrognathia, Respiratory arrest, Central sleep ... ORPHA:98914
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Cleft palate, Abnormality of the dentition, Micrognathia, Long philtrum, Bifid uvula... ORPHA:576283
Harlequin Ichthyosis
Dehydration, Eclabion, Sudden cardiac death, Respiratory insufficiency ORPHA:457
Acute Lung Injury
Respiratory distress, Tachypnea, Shock, Edema, Pneumonia, Hypoxemia, Dyspnea, Diffuse alveolar he... ORPHA:178320
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
High palate, Respiratory distress, Macroglossia, Respiratory failure requiring assisted ventilati... ORPHA:254864
Acute Interstitial Pneumonia
Nonproductive cough, Cyanosis, Crackles, Tachypnea, Decreased DLCO, Peripheral edema, Pleural eff... ORPHA:79126
Atrial Septal Defect, Ostium Primum Type
Airway obstruction, Systolic heart murmur, Right bundle branch block, Atrioventricular block, Pal... ORPHA:99106
Agnathia-Otocephaly Complex
Respiratory distress, Narrow mouth, Cleft palate, Tracheomalacia, Micrognathia, Polyhydramnios, A... OMIM:202650
Van Der Woude Syndrome 1
Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Systolic heart murmur, Right ventricular failure, Right-to-left shunt, C... ORPHA:439
Postsynaptic Congenital Myasthenic Syndromes
High palate, Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Exertio... ORPHA:98913
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Nonspecific interstitial pneumonia, Cyanosis, Neonatal death, Tachyp... OMIM:610921
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Dehydration, Cardiomyopathy ORPHA:79312
Congenital Enterocyte Heparan Sulfate Deficiency
Dehydration, Protein-losing enteropathy, Edema, Hematochezia ORPHA:103910
Birk-Barel Syndrome
High palate, Reduced subcutaneous adipose tissue, Microretrognathia, Short philtrum, Submucous cl... OMIM:612292
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Thin vermilion border, Premature loss of teeth, Short philtrum, Hypoplasia of the maxilla OMIM:156510
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration, Neonatal death OMIM:602199
Pulmonary Arteriovenous Malformation
Telangiectasia, Hemothorax, Pleural empyema, Pulmonary hemorrhage, Palpitations, Cyanosis, Heart ... ORPHA:2038
Dental Anomalies And Short Stature
Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla, Mandibular prognathia, ... OMIM:601216
Myotubular Myopathy With Abnormal Genital Development
High palate, Respiratory distress, Retrognathia, Neonatal death, Polyhydramnios, Death in infancy OMIM:300219
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Thin vermilion border, Micrognathia, Short philtrum, Oligohydramnios ORPHA:261304
X-Linked Centronuclear Myopathy
High palate, Respiratory distress, Respiratory failure requiring assisted ventilation, Polyhydram... ORPHA:596
Hypercalcemia, Infantile, 1
Pulmonic stenosis, Dehydration, Aortic valve stenosis, Thick lower lip vermilion OMIM:143880
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla ORPHA:2776
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Cyanosis, Respiratory insufficiency, In... OMIM:610913
Intellectual Developmental Disorder, Autosomal Recessive 44
Thin vermilion border, Long philtrum, Bifid uvula OMIM:615942
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Hypotension, Acute infectious pneumon... ORPHA:36238
Stickler Syndrome, Type Ii
High, narrow palate, Cleft palate, Malar flattening, Micrognathia, Bifid uvula, Pierre-Robin sequ... OMIM:604841
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Decreased DLCO, Cough, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Dyspnea OMIM:610910
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis, Lip discoloration ORPHA:621
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Reticular Dysgenesis
Dehydration, Malabsorption ORPHA:33355
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Macroglossia, Cyanosis, Hypotension, Shortened PR interval, Ascites, Cardiomyopa... OMIM:261740
Central Diabetes Insipidus
Dehydration, Polydipsia ORPHA:178029
Vitamin B12-Unresponsive Methylmalonic Acidemia
Respiratory insufficiency, Dehydration, Cardiomyopathy ORPHA:27
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr... ORPHA:1303
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Narrow mouth, Malar flattening, Long philtrum, Hypoplasia of the ... ORPHA:261295
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... ORPHA:1329
Mandibulofacial Dysostosis With Alopecia
Cleft palate, Everted lower lip vermilion, Glossoptosis, Micrognathia, Hypoplasia of the maxilla,... OMIM:616367
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Oromandibular Dystonia
Respiratory distress, Abnormality of the temporomandibular joint, Dysphagia, Abnormal lip morphol... ORPHA:93958
Respiratory distress, Dentinogenesis imperfecta, Retrognathia, Delayed eruption of teeth, Death i... ORPHA:166272
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Wide mouth, High, narrow palate, Thin vermilion border, Retrognathia, Short... ORPHA:2707
Rapp-Hodgkin Syndrome
Cleft upper lip, Narrow mouth, Velopharyngeal insufficiency, Hypodontia, Cleft palate, Microdonti... OMIM:129400
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... ORPHA:2919
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Cleft palate OMIM:618768
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Cyanosis, Paroxysmal dyspnea, Stridor, Severely reduced left vent... ORPHA:444013
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Dysphagia, Ventilator depen... ORPHA:254875
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Thin upper lip vermilion, Long philtrum OMIM:614741
Double Outlet Right Ventricle
Narrow mouth, Cleft palate, Intestinal malrotation, Pulmonic stenosis, Cyanosis, Tachycardia, Hea... ORPHA:3426
Lymphatic Malformation 7
Respiratory distress, Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema... OMIM:617300
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Secondary Short Bowel Syndrome
Malabsorption, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dysmotility, Dehy... ORPHA:95427
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Hypodontia, Glossoptosis, Arrhythmia, Abnormal mandible morphology, Submucou... ORPHA:3201
Succinic Acidemia
Respiratory distress OMIM:600335
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Aplasia/Hypoplasia of the tongue, Polyhydramnios, Respiratory failure, Dysp... ORPHA:2759
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Flushing, Abnormal T-wave, Dehydration, Arrhythmia, Downturned corne... ORPHA:2131
Respiratory distress, Cleft palate ORPHA:66637
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Dehydration, Neonatal death, Esophageal varix, Portal hypertension, Hypertension, Oligohydramnios OMIM:263200
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Congenital Short Bowel Syndrome
Intestinal atresia, Steatorrhea, Intestinal malrotation, Dehydration, Congenital shortened small ... OMIM:615237
Aarskog-Scott Syndrome
Cleft upper lip, Cleft palate, Everted lower lip vermilion, Abnormality of the dentition, Long ph... ORPHA:915
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Stickler Syndrome Type 1
Long philtrum, Hypoplasia of the maxilla, Cleft palate ORPHA:90653
Propionic Acidemia
Apnea, Cerebellar hemorrhage, Dehydration, Tachypnea, Cardiomyopathy OMIM:606054
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Widely-spaced incisors, Thin upper lip vermilion, Hypoplasia of the maxilla, Smooth philtrum OMIM:618737
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Narrow mouth, Petechiae, Everted lower lip vermilion, Retrognathia, ... OMIM:608013
Nager Syndrome
Wide mouth, Cleft palate, Micrognathia, Respiratory insufficiency, Hypoplasia of the zygomatic bo... ORPHA:245
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Dehydration, Cardiomyopathy, Cerebellar hemorrhage OMIM:251000
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Lujan-Fryns Syndrome
High palate, Abnormality of the dentition, Short philtrum, Micrognathia, Hypoplasia of the maxill... ORPHA:776
Meconium Aspiration Syndrome
Respiratory distress, Aspiration pneumonia, Pulmonary insufficiency, Wheezing, Pneumothorax, Hypo... ORPHA:70588
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, High, narrow palate, Micrognathia, Telangiectasia, Smooth philtrum OMIM:608799
Miscarriage, Hypovolemic shock, Aspiration pneumonia, Palmoplantar cutis laxa, Dehydration, Tachy... ORPHA:173
Distal Xq28 Microduplication Syndrome
High palate, Predominantly lower limb lymphedema, Asthma, Upper eyelid edema, Short lingual frenu... ORPHA:293939
Lethal Omphalocele-Cleft Palate Syndrome
Cleft palate, Retrognathia, Bifid uvula, Unilateral cleft lip, Cleft soft palate ORPHA:2736
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Intellectual Developmental Disorder, X-Linked, Syndromic 14
High palate, Mandibular prognathia, Hypoplasia of the maxilla OMIM:300676
Breath-Holding Spells
Cyanosis OMIM:607578
Hypomandibular Faciocranial Dysostosis
Pursed lips, Malar flattening, Micrognathia, Aglossia, Hypoplasia of the maxilla OMIM:241310
Familial Renal Glucosuria
Dehydration ORPHA:69076
Craniofaciofrontodigital Syndrome
Respiratory distress, Pyloric stenosis, Gastrointestinal hemorrhage, Persistent fetal circulation... ORPHA:363705
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Micrognathia, Dehydration, Death in infancy, Oligohydramnios, Jaundice OMIM:208085
Andersen-Tawil Syndrome
High palate, Abnormality of the dentition, Bidirectional ventricular ectopy, Hypoplasia of the ma... ORPHA:37553
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Bifid uvula, Cleft palate ORPHA:506353
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Micrognathia, Dehydration, Polyhydramnios, Recurrent pneumonia, Trismus, Co... OMIM:616271
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Anaplastic Thyroid Carcinoma
Respiratory distress, Tracheoesophageal fistula, Cough, Upper airway obstruction, Dysphagia, Dysp... ORPHA:142
Netherton Syndrome
Asthma, Malabsorption, Urticaria, Dehydration, Emphysema ORPHA:634
Avian Influenza
Respiratory distress, Miscarriage, Nonproductive cough, Tachypnea, Cough, Pneumothorax, Productiv... ORPHA:454836
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Dehydration, Arrhythmia, Wheezing, Cough ORPHA:171876
Cleft palate, Retrognathia, Micrognathia, Gingival cleft, Bifid uvula, Polyhydramnios, Unilateral... ORPHA:2189
Temple Syndrome
High palate, Cleft palate, Micrognathia, Short philtrum, Bifid uvula OMIM:616222
X-Linked Intellectual Disability, Sutherland-Haan Type
Anal atresia, Hypoplasia of the maxilla, Mandibular prognathia ORPHA:93950
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Left bundle branch block, Congestive heart failure, Pulmonary edema, Sudden... OMIM:115197
Familial Nasal Acilia
Respiratory distress, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Dyspnea ORPHA:922
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal palate morphology, Respiratory insufficiency, Hypoplasia of the maxilla, Malar flattening ORPHA:93262
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy ORPHA:26792
Beta-Ketothiolase Deficiency
Oral aversion, Dehydration, Hypotension, Tachypnea, Cough, Edema, Hypertension ORPHA:134
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
Respiratory distress, Respiratory insufficiency, Generalized abnormality of skin, Nonimmune hydro... ORPHA:367
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Short philtrum, Hypoplasia of the maxilla ORPHA:93945
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Micrognathia, Bifid uvula, Cleft palate OMIM:606164
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening OMIM:122880
Atrial Septal Defect, Coronary Sinus Type
Supraventricular arrhythmia, Bundle branch block, Left-to-right shunt, Systolic heart murmur, Pre... ORPHA:99104
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
High palate, Paradoxical respiration, Respiratory distress OMIM:620011
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Persistence of primary teeth, Prominent frontal sinuses, Cleft palate, Short mandibu... OMIM:170390
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Retrognathia, Death in childhood,... OMIM:612938
Myotonic Dystrophy 1
Respiratory distress, Polyhydramnios, Atrial flutter, Dysphagia, Atrial fibrillation, First degre... OMIM:160900
Frontonasal Dysplasia 1
Median cleft palate, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Median cleft lip, Wi... OMIM:136760
Congenital Diaphragmatic Hernia
Intestinal malrotation, Respiratory distress, Hypoxemia ORPHA:2140
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis OMIM:619466
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory insufficiency, Tongue atrophy, Dysphagia, Dyspnea, Tongue fasci... OMIM:211530
Spondylometaphyseal Dysplasia, Schmidt Type
Polyhydramnios, Micrognathia, Cleft soft palate ORPHA:93316
Diamond-Blackfan Anemia 6
Cleft upper lip, Cleft palate, Tracheomalacia, Retrognathia, Mitral regurgitation, Micrognathia, ... OMIM:612561
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Crowded maxillary incisors, Hypoplasia of the maxilla ORPHA:397973
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Cardiocranial Syndrome, Pfeiffer Type
Temporomandibular joint ankylosis, Episodic tachypnea, High, narrow palate, Micrognathia, Bifid u... ORPHA:2872
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis, Hypertrophic cardiomyopathy OMIM:610773
Dehydration, Malabsorption, Portal hypertension, Polydipsia ORPHA:213
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Sudden cardiac death, Palpitations, Orthopnea, Syncope, Ventricular tac... OMIM:613838
Moebius Syndrome
High palate, Respiratory distress, Abnormality of the dentition, Micrognathia, Bifid uvula, Dysph... OMIM:157900
Thyroid Lymphoma
Respiratory distress, Upper airway obstruction, Dysphagia, Dyspnea, Stridor ORPHA:97285
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Tetrasomy 5P
High palate, Respiratory distress, Micrognathia, Cyanosis, Long philtrum, Heart murmur, Pulmonary... ORPHA:3309
Isovaleric Acidemia
Dehydration, Cerebellar hemorrhage OMIM:243500
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia ORPHA:240085
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Abnormal large intestinal mucosa morphology, Steatorrhea, Dehydratio... ORPHA:92050
Lamellar Ichthyosis
Abnormality of the dentition, Dehydration, Everted lower lip vermilion ORPHA:313
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Thin vermilion border, Short philtrum, Bifid uvula, Deep philtrum, Bilateral cleft lip, Tented up... OMIM:618622
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Dehydration, Death in childhood, Death in adolescence OMIM:560000
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Netherton Syndrome
Asthma, Urticaria, Intestinal atresia, Hypernatremic dehydration, Angioedema, Villous atrophy, Al... OMIM:256500
Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage, Pneumonia, Hypoxemia ORPHA:238459
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Radio-Renal Syndrome
Respiratory distress, Chylothorax, High, narrow palate, Retrognathia, Micrognathia, Downturned co... ORPHA:3015
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Hypoplasia of the maxilla ORPHA:85279
Craniofacial-Deafness-Hand Syndrome
Narrow mouth, Hypoplasia of the maxilla ORPHA:1529
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Miscarriage, Hemothorax, Pulmonary hemorrhage, Subarachnoid h... OMIM:187300
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Dental malocclusion, Respiratory distress, Micrognathia, Deep philtrum, Polyhydramni... ORPHA:329178
Microvillus Inclusion Disease
Dehydration, Hypovolemia, Villous atrophy, Abnormality of small intestinal villus morphology ORPHA:2290
Colchicine Poisoning
Respiratory distress, Hypovolemia, Dehydration, Arrhythmia, Cardiogenic shock, Hypotension, Myoca... ORPHA:31824
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Hypertension, Oligohydramnios OMIM:616733
Congenital Tracheomalacia
Apnea, Tracheomalacia, Decreased peak expiratory flow, Tracheoesophageal fistula, Cyanosis, Respi... ORPHA:95430
Respiratory distress, Tachycardia, Tachypnea, Dysphagia, Hypertension, Trismus, Bradycardia ORPHA:3299
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Narrow mouth, Polyhydramnios, Mandibular aplasia, Microglossia ORPHA:990
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Supernumerary tooth, Thin vermilion border, Bifid uvula, Open mouth, Thick lower lip... OMIM:617412
Chitayat Syndrome
Thick vermilion border, Polyhydramnios, Respiratory distress, Tracheomalacia OMIM:617180
Sepsis In Premature Infants
Petechiae, Enterocolitis, Cyanosis, Tachycardia, Abnormal respiratory system physiology, Hypotens... ORPHA:90051
Glucose/Galactose Malabsorption
Hypertonic dehydration, Malabsorption OMIM:606824
Esophageal Atresia
Respiratory distress, Laryngotracheomalacia, Duodenal atresia, Episodic respiratory distress, Ora... ORPHA:1199
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Narrow mouth, Microretrognathia, Cleft palate, Microdontia, Hypoplasia of the maxill... ORPHA:1307
Paternal Uniparental Disomy Of Chromosome 6
High palate, Gingival overgrowth, Macroglossia, Retrognathia, Micrognathia, Dehydration, Neonatal... ORPHA:96191
Eosinophilic Granulomatosis With Polyangiitis
Asthma, Malabsorption, Sinusitis, Urticaria, Recurrent intrapulmonary hemorrhage, Cutis marmorata... ORPHA:183
Burn-Mckeown Syndrome
Cleft upper lip, Narrow mouth, Cleft palate, Thin vermilion border, Micrognathia, Short philtrum,... OMIM:608572
Jackson-Weiss Syndrome
Abnormal palate morphology, Mandibular prognathia, Hypoplasia of the maxilla ORPHA:1540
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla OMIM:608432
Kallmann Syndrome-Heart Disease Syndrome
Cleft palate, Mitral regurgitation, Pulmonary insufficiency, Cyanosis, Heart murmur, Short lingua... ORPHA:2326
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Short philtrum, Diastema, Conical tooth, Hypoplasia of the maxilla OMIM:619142
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, Hypoplasia of the maxilla, Restrictive ventilatory defect OMIM:218000
Coffin-Siris Syndrome 11
High palate, Wide mouth, Bifid uvula, Downturned corners of mouth, Esophageal atresia, Cleft soft... OMIM:618779
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
High palate, Respiratory distress, Apnea, Aspiration pneumonia, Micrognathia, Deep philtrum, Tent... ORPHA:314655
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Pedal edema, Respiratory f... ORPHA:563
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Decreased DLCO, Cough, Restrictive ventilatory defect, Hypoxemia, Dyspnea ORPHA:747
Corticosterone Methyloxidase Type I Deficiency
Dehydration, Hypotension OMIM:203400
Synaptic Congenital Myasthenic Syndromes
High palate, Respiratory distress, Sleep apnea, Triangular mouth, Respiratory insufficiency, Neon... ORPHA:98915
Multiple Epiphyseal Dysplasia, Lowry Type
Micrognathia, Cleft hard palate ORPHA:166016
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
High palate, Pulmonic stenosis, Micrognathia, Cyanosis, Thin upper lip vermilion ORPHA:3304
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Persistent fetal circulation, Respiratory distress, High, narrow palate, Tricuspid r... OMIM:612863
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Tricuspid regurgitation, Long philtrum, Hypoplasia of the maxilla, Thick vermi... ORPHA:228396
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Bruising susceptibility, Cyanosis, Tachycardia, Gingival bleeding, Inter... ORPHA:335
Zimmermann-Laband Syndrome 3
High palate, Gingival overgrowth, Bifid uvula, Thick lower lip vermilion OMIM:618658
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Dehydration, Syncope, Orthostatic syncope, Abnormal EKG, Dyspnea, Rhinitis ORPHA:230
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Dehydration, Hypotension OMIM:264350
Corticosterone Methyloxidase Type Ii Deficiency
Orthostatic hypotension, Dehydration OMIM:610600
Respiratory distress, Tachycardia, Cough, Pleural effusion, Oral ulcer, Pneumonia ORPHA:3392
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Palpitations, Heart murmur, Syncope, Abnormal cardiovascular system phys... ORPHA:422
Telangiectasia, Hereditary Hemorrhagic, Type 2
Melena, Subarachnoid hemorrhage, Hematochezia, Lip telangiectasia, Facial telangiectasia, Fingerp... OMIM:600376
Crouzon Syndrome
Respiratory insufficiency, Narrow palate, Hypoplasia of the maxilla ORPHA:207
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Malar flattening, Cleft palate, Micrognathia, Hypoplasia of the maxilla ORPHA:79113
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Bifid uvula, Submucous cleft hard palate OMIM:619239
Amish Lethal Microcephaly
Micrognathia, Death in infancy, Cleft soft palate ORPHA:99742
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Ethylene Glycol Poisoning
Episodic respiratory distress, Gastritis, Pulmonary edema, Cyanosis, Tachycardia, Abnormal patter... ORPHA:31826
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Subdural hemorrhage, Dehydration, Hydrops fetalis, Pulmonary embolism, Stom... ORPHA:79282
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Cleft upper lip, Hypodontia, Cleft palate, Widely spaced teeth, Conical tooth, Hypoplasia of the ... OMIM:106260
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Left ventricular outflow tract obstruction, Cyanosis, Tachycardia, Abnormal QRS co... ORPHA:860
Meckel Syndrome 14
Microretrognathia, Tricuspid regurgitation, Retrognathia, Mitral regurgitation, Micrognathia, Cya... OMIM:619879
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Atelosteogenesis, Type Iii
Micrognathia, Malar flattening, Hypoplasia of the maxilla, Cleft palate OMIM:108721
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Dehydration, Hypotension ORPHA:556030
Polydipsia, Micrognathia, Dehydration, Branchial cyst, Hypertension ORPHA:2260
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Jaundice, Dehydration, Hypotension, Tachypnea, Dilated cardiomyopathy, Edema, Cardiac arrest ORPHA:20
Aortic Arch Interruption
Intermittent claudication, Respiratory distress, Blood pressure substantially higher in arms than... ORPHA:2299
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Jaundice, Tachycardia, Arrhythmia, Tachypnea, Dilated c... ORPHA:26793
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Trismus, Submucous cleft hard palate OMIM:609166
Bifid Uvula
Cleft lip, Submucous cleft soft palate, Bifid uvula ORPHA:99771
Mohr Syndrome
High palate, Accessory oral frenulum, Agenesis of central incisor, Cleft palate, Malar flattening... OMIM:252100
Primary Dystonia, Dyt4 Type
Dysphagia, Movement abnormality of the tongue, Respiratory distress, Open mouth ORPHA:98805
Nipah Virus Disease
Respiratory distress, Hypotension, Cough ORPHA:99825
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Everted lower lip vermilion, Long philtrum, Deep philtrum, Open mouth OMIM:137550
Respiratory distress ORPHA:673
Infantile-Onset X-Linked Spinal Muscular Atrophy
High palate, Respiratory insufficiency, Tongue fasciculations, Respiratory distress ORPHA:1145
Coffin-Lowry Syndrome
High palate, Wide mouth, Sleep apnea, Narrow palate, Hypodontia, Everted lower lip vermilion, Del... ORPHA:192
Intestinal Botulism
Xerostomia, Death in infancy, Dysphagia, Dyspnea, Respiratory insufficiency due to muscle weakness ORPHA:178481
Progressive Supranuclear Palsy-Corticobasal Syndrome
Dysphagia, Respiratory distress ORPHA:240103
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Dehydration, Stridor, Fragile skin, Esophageal stricture, Abnormal oral muc... ORPHA:79404
Lowry-Maclean Syndrome
High, narrow palate, Cleft palate, Retrognathia, Micrognathia, Pyloric stenosis, Downturned corne... ORPHA:2409
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration, Hypotension OMIM:177735
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Airway obstruction, Atrial arrhythmia, Systolic heart murmur, Right ... ORPHA:99105
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Nonproductive cough, Right ventricular failure, Cyanosis, Respir... ORPHA:60025
Laryngeal Web, Familial
Respiratory distress, Stridor OMIM:150360
Osteolysis Syndrome, Recessive
Hypoplasia of the maxilla OMIM:259610
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Systolic heart murmur, Cyanosis, Tachypnea, Respiratory failure requirin... ORPHA:555874
Keipert Syndrome
Tented upper lip vermilion, Hypoplasia of the maxilla, Exaggerated cupid's bow ORPHA:2662
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Narrow mouth, Macrodontia of permanent maxillary central incisor, Thin vermi... OMIM:257850
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cardiomyopathy, Cough ORPHA:86812
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Pulmonary edema, Cleft palate, Cyan... ORPHA:137675
Respiratory distress, Cleft palate, Tracheomalacia, Micrognathia, Respiratory insufficiency, Olig... OMIM:608022
Telangiectasia, Hereditary Hemorrhagic, Type 4
High-output congestive heart failure, Cerebral hemorrhage, Cyanosis, Right-to-left shunt, Subarac... OMIM:610655
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Microretrognathia, Respiratory distress ORPHA:89844
Spinal muscular atrophy, type I, with congenital bone fractures
High palate, Generalized edema, Respiratory distress OMIM:271225
Oculofaciocardiodental Syndrome
Tooth malposition, Cleft palate, Intestinal malrotation, Abnormality of the dentition, Oligodonti... ORPHA:2712
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Micrognathia, Hypoplasia of the maxilla OMIM:166300
Absence Of The Pulmonary Artery
Pulmonary edema, Systolic heart murmur, Nonproductive cough, Cyanosis, Tachycardia, Orthopnea, Re... ORPHA:980
Osteootohepatoenteric Syndrome
Asthma, Dehydration, Ileoileal intussusception, Villous atrophy, Prolonged neonatal jaundice OMIM:619377
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
High palate, Bifid uvula, Median cleft lip OMIM:155145
Triosephosphate Isomerase Deficiency
Respiratory distress, Respiratory insufficiency, Death in adolescence, Death in infancy, Respirat... OMIM:615512
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Eruption failure, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Multiple non-erupting... OMIM:273050
Robinow Syndrome, Autosomal Dominant 2
Wide mouth, Dental malocclusion, Gingival overgrowth, Triangular mouth, Cleft palate, Abnormality... OMIM:616331
Kleefstra Syndrome 2
Bifid uvula, Everted lower lip vermilion OMIM:617768
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Hiatus hernia, Mal... ORPHA:3342
Cystic Fibrosis
Reduced forced expiratory volume in one second, Ileus, Asthma, Steatorrhea, Meconium ileus, Dehyd... OMIM:219700
Kagami-Ogata Syndrome
Pulmonic stenosis, Retrognathia, Micrognathia, Long philtrum, Polyhydramnios, Hypoplasia of the m... OMIM:608149
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Widely spaced teeth, Carious teeth OMIM:617102
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Oxygen desaturation on exertion, Respiratory distress, Asthma, Crackles, Tachypnea, Wheezing, Cou... OMIM:610978
Criss-Cross Heart
Mitral stenosis, Pulmonic stenosis, Tricuspid stenosis, Cyanosis, Respiratory insufficiency, Supr... ORPHA:1461
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Prolonged neonatal jaundice, Macroglossia, Bradycardia ORPHA:226313
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Cyanosis OMIM:252320
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Dental malocclusion, Hypodontia, Bruising susceptibility, Bifid uvula, Delayed erupt... OMIM:612350
Spondylospinal Thoracic Dysostosis
Micrognathia, Hypoplasia of the maxilla OMIM:601809
Emanuel Syndrome
High palate, Anal atresia, Ectopic anus, Aortic valve stenosis, Tooth malposition, Cleft palate, ... ORPHA:96170
Congenital Tracheal Stenosis
Respiratory distress, Anal atresia, Duodenal atresia, Abnormal stomach morphology, Neonatal asphy... ORPHA:141127
High palate, Dental malocclusion, Obtuse angle of mandible, Persistence of primary teeth, Hypodon... ORPHA:763
Afibrinogenemia, Congenital
Subdural hemorrhage, Hematemesis, Bruising susceptibility, Death in childhood, Death in adolescen... OMIM:202400
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
Hypomandibular Faciocranial Dysostosis
Narrow mouth, Aplasia/Hypoplasia of the tongue, Cleft palate, Maxillozygomatic hypoplasia, Bifid ... ORPHA:1790
8Q22.1 Microdeletion Syndrome
Abnormality of the dentition, Long philtrum, Hypoplasia of the maxilla, Submucous cleft hard palate ORPHA:178303
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Narrow mouth, Tooth malposition, Hypodontia, Abnormality of the dentiti... ORPHA:363417
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... OMIM:619897
Marshall Syndrome
High palate, Thick upper lip vermilion, Cleft palate, Malar flattening, Abnormality of the dentit... ORPHA:560
Ear-Patella-Short Stature Syndrome
Respiratory distress, Narrow mouth, High, narrow palate, Cleft palate, Retrognathia, Micrognathia... ORPHA:2554
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, High, narrow palate, Cleft palate, Retrognathia, Micrognathia, Bifid uvula... ORPHA:2780
Hyperoxaluria, Primary, Type I
Intermittent claudication, Atrioventricular block, Raynaud phenomenon, Cutis marmorata, Dehydrati... OMIM:259900
Chromosome 17Q12 Duplication Syndrome
Micrognathia, Esophageal atresia, Smooth philtrum, Cleft soft palate OMIM:614526
Premature Aging Syndrome, Penttinen Type
Thin vermilion border, Micrognathia, Hypoplasia of the maxilla, Delayed eruption of teeth OMIM:601812
Dend Syndrome
Downturned corners of mouth, Dehydration, Long philtrum ORPHA:79134
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Dehydration OMIM:251110
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Macroglossia, Left ventricular outflow tract obstruction, Respiratory insuf... ORPHA:308552
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla, Progeroid facial appearance OMIM:608154
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Narrow mouth, Cleft palate, Micrognathia, Short philtrum, Bifid uvula, Pyloric stenosis ORPHA:96184
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, High, narrow palate, Micrognathia, Short phil... OMIM:216550
Schilbach-Rott Syndrome
Micrognathia, Narrow mouth, Bifid uvula, Submucous cleft hard palate OMIM:164220
Apert Syndrome
Ectopic anus, Narrow palate, Cleft palate, Respiratory insufficiency, Delayed eruption of teeth, ... ORPHA:87
Odontochondrodysplasia 1
Respiratory distress, Dentinogenesis imperfecta, Long philtrum, Delayed eruption of teeth, Death ... OMIM:184260
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Cleft palate, Tracheomalacia, Micrognathia, Downturned corners of mouth, An... OMIM:217980
Malan Syndrome
Gingival overgrowth, Narrow mouth, Everted lower lip vermilion, Retrognathia, Cutis marmorata, Ad... OMIM:614753
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Long philtrum, Thick lower lip vermilion, Acrocyanosis, Atrioventricular block, Bradycardia OMIM:614407
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pulmonary edema, Vasculitis, Hypotension, Shock, Pneumonia, Hypoxemia, ... ORPHA:70578
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Death in adolescence, Neonatal death, Polyhydramnios, Lymphedema, Neon... OMIM:620014
Pde4D Haploinsufficiency Syndrome
Malar flattening, Micrognathia, Short philtrum, Long philtrum, Hypotension, Hypoplasia of the max... ORPHA:439822
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Immotile cilia OMIM:606763
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Polyhydramnios OMIM:618188
Mucopolysaccharidosis, Type Ix
Bifid uvula, Submucous cleft hard palate OMIM:601492
Autosomal Recessive Centronuclear Myopathy
High palate, Narrow mouth, Retrognathia, Respiratory insufficiency, Bifid uvula ORPHA:169186
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Vasculitis, Intestinal obstruction, Purpura, Recurrent aphthous stomatitis, ... ORPHA:343
Myhre Syndrome
Narrow mouth, Craniofacial hyperostosis, Cleft palate, Thin vermilion border, Gingival cleft, Bif... ORPHA:2588
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Premature loss of teeth, Thin vermilion border, Long philtrum, Delayed e... ORPHA:50814
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla OMIM:618302
Oculocerebrorenal Syndrome Of Lowe
Cheilitis, Abnormality of the dentition, Delayed eruption of teeth, Carious teeth, Open mouth, Ma... ORPHA:534
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Narrow mouth, Tooth agenesis, Narrow palate, Cleft palate, Malar flattening... ORPHA:1555
Chiari Malformation Type Ii
Dysphagia, Cyanosis, Inspiratory stridor OMIM:207950
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Respiratory insufficiency, Arrhythmia, Hypotension, Ventricular tachycardia, Sudden epi... ORPHA:159
Renal Dysplasia-Limb Defects Syndrome
High palate, Respiratory distress, Narrow mouth, Thin vermilion border, Micrognathia, Neonatal de... OMIM:266910
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
High palate, Respiratory distress, Death in childhood, Exertional dyspnea, Hypertrophic cardiomyo... OMIM:220110
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Orofaciodigital Syndrome Type 2
High palate, Apnea, Agenesis of central incisor, Taurodontia, Velopharyngeal insufficiency, Cleft... ORPHA:2751
Paralytic ileus, Acute colitis, Urticaria, Hypovolemic shock, Dehydration, Myocarditis, Purpura, ... ORPHA:810
Cowden Syndrome 5
High palate, Narrow mouth, Micrognathia, Furrowed tongue, Hypoplasia of the maxilla, Colonic dive... OMIM:615108
Renal Hypoplasia
Hypertension, Dehydration, Polydipsia ORPHA:93101
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Dehydration OMIM:251100
Oculopharyngodistal Myopathy 1
High palate, Respiratory distress, Hypercapnia, Reduced forced vital capacity, Dilated cardiomyop... OMIM:164310
Tricuspid Atresia
Cyanosis ORPHA:1209
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Edema of the dorsum of feet, Hypodontia, Edema of the dorsum of hands ORPHA:544503
High palate, Respiratory distress, Apnea, Pulmonary edema, Retrognathia, Polyhydramnios, Edema, G... ORPHA:79330
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft upper lip, Tooth agenesis, Narrow mouth, Cleft palate, Open bite, ... ORPHA:861
Axenfeld-Rieger Syndrome, Type 2
Hypodontia, Everted lower lip vermilion, Short philtrum, Microdontia, Anal stenosis, Hypoplasia o... OMIM:601499
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Cleft palate, Thin vermilion border, Intestinal malrotation, Cutis ... OMIM:614701
Arthrogryposis, Distal, Type 3
High palate, Cleft palate, Micrognathia, Bifid uvula, Submucous cleft hard palate OMIM:114300
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla, Cleft palate OMIM:614261
Cri-Du-Chat Syndrome
High palate, Microretrognathia, Short philtrum, Anterior open-bite malocclusion, Bifid uvula, Ora... OMIM:123450
Zimmermann-Laband Syndrome
High palate, Wide mouth, Supernumerary tooth, Hypodontia, Cleft palate, Macroglossia, Micrognathi... ORPHA:3473
Eisenmenger Syndrome
Angina pectoris, Supraventricular arrhythmia, Respiratory distress, Heart murmur, Pedal edema, Ri... ORPHA:97214
Cardiac Valvular Dysplasia 2
Central cyanosis, Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Palpitatio... OMIM:620067
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Malar flattening, Cleft palate, Micrognathia, Deep philtrum, Esophageal atr... OMIM:610536
Congenital Enterovirus Infection
Respiratory distress, Hydrops fetalis, Hypotension, Myocarditis, Polyhydramnios, Pericardial effu... ORPHA:292
Buratti-Harel Syndrome
High palate, Velopharyngeal insufficiency, Bifid uvula, Recurrent pneumonia, Submucous cleft hard... OMIM:619314
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal palate morphology, Narrow mouth, Malar flattening, Prominence of the premaxilla ORPHA:2412
Cowden Syndrome 6
High palate, Narrow mouth, Micrognathia, Furrowed tongue, Hypoplasia of the maxilla, Colonic dive... OMIM:615109
Mitochondrial Complex I Deficiency, Nuclear Type 37
High palate, Pulmonary arterial hypertension, Respiratory distress, Bradycardia OMIM:619272
Dysostosis, Stanescu Type
Tooth agenesis, Macroglossia, Abnormality of the dentition, Carious teeth, Hypoplasia of the zygo... ORPHA:1798
Nablus Mask-Like Facial Syndrome
High palate, Narrow mouth, Retrognathia, Abnormality of the dentition, Long philtrum, Hypoplasia ... OMIM:608156
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Hsd10 Disease, Infantile Type
Dysphagia, Cyanosis, Hypertrophic cardiomyopathy ORPHA:391428
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Abnormal left ventricular function, Pulmonary venous hypertension, P... ORPHA:75249
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
High palate, Respiratory distress, Long philtrum, Tented upper lip vermilion, Thick vermilion bor... OMIM:619383
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Malar flattening, Cleft palate, Bifid uvula, Restrictive ventilatory defect... OMIM:183900
Vertebral Hypersegmentation And Orofacial Anomalies
Micrognathia, Unilateral cleft palate, Unilateral cleft lip, Submucous cleft hard palate OMIM:619122
Meier-Gorlin Syndrome 4
Narrow mouth, Micrognathia, Hypoplasia of the maxilla, Emphysema, Thick lower lip vermilion OMIM:613804
Rodrigues Blindness
Tooth malposition, Nasal flaring, Ectodermal dysplasia OMIM:268320
Martsolf Syndrome 1
High palate, Tooth malposition, Tracheomalacia, Micrognathia, Short philtrum, Long philtrum, Hypo... OMIM:212720
Temple Syndrome
Polyphagia, Bifid uvula ORPHA:254516
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Wolcott-Rallison Syndrome
Dehydration, Ascites, Jaundice ORPHA:1667
Eosinophilic Fasciitis
Muscular edema, Acrocyanosis, Edema ORPHA:3165
Hyperphosphatasia-Intellectual Disability Syndrome
High palate, Telangiectasia, Micrognathia, Short philtrum, Bifid uvula, Downturned corners of mou... ORPHA:247262
Axenfeld-Rieger Syndrome
Hypodontia, Everted lower lip vermilion, Microdontia, Hypoplasia of the maxilla, Anal stenosis ORPHA:782
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Pai Syndrome
Abnormal oral frenulum morphology, Median cleft lip, Bifid uvula, Cleft palate ORPHA:1993
Meier-Gorlin Syndrome 5
Micrognathia, Long philtrum, Hypoplasia of the maxilla, Thick vermilion border, Submucous cleft h... OMIM:613805
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
High palate, Micrognathia, Short philtrum, Deep philtrum, Hypoplasia of the maxilla, Open mouth, ... OMIM:309520
Lujo Hemorrhagic Fever
Respiratory distress, Facial edema, Nonproductive cough, Crackles, Hypotension, Myocarditis, Shoc... ORPHA:319213
Branchioskeletogenital Syndrome
Premature loss of teeth, Thin vermilion border, Abnormality of the dentition, Short philtrum, Per... ORPHA:1299
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Cleft upper lip, Bifid uvula, Cleft palate OMIM:300958
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
High palate, Micrognathia, Diastema, Furrowed tongue, Hypoplasia of the maxilla, Mandibular progn... OMIM:300534
Atrioventricular Septal Defect 3
Cyanosis, Midsystolic murmur, First degree atrioventricular block, Hypertension, Pulmonary arteri... OMIM:600309
Neuroleptic Malignant Syndrome
Aspiration pneumonia, Dehydration, Tachycardia, Pulmonary embolism, Arrhythmia, Hypotension, Hype... ORPHA:94093
Mercury Poisoning
Respiratory distress, Interstitial pneumonitis, Tachycardia, Hypotension, Dyspnea, Hypertension, ... ORPHA:330021
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Narrow mouth, Micrognathia, Delayed eruption of teeth, Bifid uvula, Polyhydramnios, Cleft hard pa... OMIM:300990
Progeria-Short Stature-Pigmented Nevi Syndrome
Supraventricular arrhythmia, Dental malocclusion, Prematurely aged appearance, Progeroid facial a... ORPHA:2959
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Tooth agenesis, Abnormality of the dentition, Xerostomia, Cough, Hypoplasia of the max... ORPHA:238468
Van Maldergem Syndrome 1
High palate, Anal atresia, Dental malocclusion, Malar flattening, Tracheomalacia, Micrognathia, D... OMIM:601390
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Cocaine Intoxication
Supraventricular arrhythmia, Respiratory distress, Subarachnoid hemorrhage, Myocardial infarction... ORPHA:90068
Orofaciodigital Syndrome Iii
Supernumerary tooth, Bifid tongue, Bifid uvula, Microdontia, Tongue nodules OMIM:258850
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Polyhydramnios, Palpebral edema, Long philtrum ORPHA:50810
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cleft palate, Intestinal malrotation, Micrognathia, Long philtrum, Bifid uvula, Downturned corner... ORPHA:404440
Stickler Syndrome, Type I
Cleft palate, Malar flattening, Micrognathia, Bifid uvula, Pierre-Robin sequence, Submucous cleft... OMIM:108300
Pfeiffer Syndrome Type 2
High palate, Anal atresia, Respiratory distress, Malar flattening, Cleft palate, Intestinal malro... ORPHA:93259
Cleidocranial Dysplasia 1
High palate, Respiratory distress, Narrow palate, Supernumerary tooth, High, narrow palate, Cleft... OMIM:119600
Crouzon Syndrome
Dental crowding, Mandibular prognathia, Hypoplasia of the maxilla, Sleep apnea OMIM:123500
Inhalational Anthrax
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension ORPHA:247257
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Apnea, Pulmonic stenosis, Mitral regurgitation, Central hypoventilation, Di... ORPHA:70474
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Narrow mouth, Narrow palate, Malar flattening, Palmoplantar cutis laxa, Ant... OMIM:123790
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Taurodontia, Hypodontia, Everted lower lip vermilion, Hypohidrotic ectoderm... OMIM:305100
Tarp Syndrome
Alveolar ridge overgrowth, Apnea, Cleft palate, Glossoptosis, Micrognathia, Cyanosis, Abnormal du... ORPHA:2886
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypertonic dehydration, Polydipsia OMIM:125800
Cerebrofacioarticular Syndrome
Narrow mouth, Tracheomalacia, Pulmonic stenosis, Micrognathia, Irregular dentition, Lymphedema, A... ORPHA:314679
Pachyonychia Congenita
Respiratory distress, Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia ORPHA:2309
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypertonic dehydration, Polydipsia OMIM:304800
Meckel Syndrome 12
Micrognathia, Oligohydramnios, Bifid uvula OMIM:616258
Barber-Say Syndrome
High palate, Wide mouth, Gingival overgrowth, Dental malocclusion, Velopharyngeal insufficiency, ... OMIM:209885
Open bite, Delayed eruption of teeth, Hypoplasia of the maxilla, Open mouth, Mandibular prognathia ORPHA:950
Angelman Syndrome
Wide mouth, Macroglossia, Widely spaced teeth, Protruding tongue, Hypoplasia of the maxilla, Mand... OMIM:105830
Geroderma Osteodysplasticum
Periodontitis, Progeroid facial appearance, Malar flattening, Neonatal wrinkled skin of hands and... OMIM:231070
Van Maldergem Syndrome 2
High palate, Dental malocclusion, Malar flattening, Tracheomalacia, Micrognathia, Downturned corn... OMIM:615546
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
High palate, Respiratory distress, Tented upper lip vermilion, Incisor macrodontia, Abnormality o... ORPHA:438216
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Wide mouth, Unilateral cleft palate, Unilateral cleft lip, Mandibular prognathia, Thick lower lip... OMIM:619103
Waardenburg Syndrome Type 3
Acrocyanosis, Tented upper lip vermilion, Tracheomalacia ORPHA:896
Respiratory insufficiency due to muscle weakness, Malabsorption, Dehydration, Erythema, Subcutane... ORPHA:97282
Kniest Dysplasia
Respiratory distress, Malar flattening, Cleft palate, Tracheomalacia OMIM:156550
Hutchinson-Gilford Progeria Syndrome
High palate, Angina pectoris, Impacted tooth, Delayed eruption of teeth, Myocardial infarction, T... ORPHA:740
Cree Mental Retardation Syndrome
Micrognathia, Cleft soft palate OMIM:606851
Intellectual Developmental Disorder, Autosomal Dominant 58
High palate, Wide mouth, Dental crowding, Protruding tongue, Thick vermilion border, Submucous cl... OMIM:618106
Idiopathic Pulmonary Arterial Hypertension
Edema of the dorsum of feet, Tricuspid regurgitation, Palpitations, Elevated pulmonary artery pre... ORPHA:275766
Acrofacial Dysostosis, Cincinnati Type
Cleft palate, Retrognathia, Micrognathia, Hypoplasia of the maxilla, Aplastic zygomatic arch OMIM:616462
Loeys-Dietz Syndrome 4
High palate, High, narrow palate, Eosinophilic infiltration of the esophagus, Bruising susceptibi... OMIM:614816
Aarskog-Scott Syndrome
Cleft upper lip, Hypodontia, Cleft palate, Curved linear dimple below the lower lip, Hypoplasia o... OMIM:305400
Nasolacrimal Duct Cyst
Episodic respiratory distress, Intercostal retractions, Abnormal breath sound, Periorbital edema,... ORPHA:141083
Pearson Marrow-Pancreas Syndrome
Malabsorption, Steatorrhea, Death in childhood, Dehydration, Hydrops fetalis, Erythema, Villous a... OMIM:557000
Acrocallosal Syndrome
High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Open mouth, Hypoplasia o... OMIM:200990
Prader-Willi Syndrome Due To Translocation
High palate, Wide mouth, Alveolar ridge overgrowth, Respiratory distress, Cleft palate, Everted l... ORPHA:177907
W Syndrome
Agenesis of maxillary central incisor, Broad uvula, Upper lip pit, Submucous cleft hard palate ORPHA:2804
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Retrognathia, Cleft soft palate, Short philtrum, Oligohydramnios, Smooth philtrum ORPHA:293725
Pearson Syndrome
Steatorrhea, Corneal stromal edema, Dehydration, Hydrops fetalis, Median cleft lip and palate, Cu... ORPHA:699
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis, Death in infancy OMIM:602473
Cowden Syndrome 1
High palate, Narrow mouth, Micrognathia, Furrowed tongue, Hypoplasia of the maxilla, Colonic dive... OMIM:158350
Lysosomal Acid Lipase Deficiency
Steatorrhea, Hypovolemia, Dehydration, Hypotension, Esophageal varix, Pulmonary arterial hyperten... ORPHA:275761
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration OMIM:143860
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Hypodontia, Cleft palate, Micrognathia, Submucous cleft soft palate, Delayed eruption of teeth, W... ORPHA:1071
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Long philtrum, Respiratory failure OMIM:617895
Congenital Disorder Of Glycosylation, Type It
Cleft palate, Micrognathia, Sudden cardiac death, Tachycardia, Bifid uvula, Dilated cardiomyopath... OMIM:614921
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy