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Gene: Lgr5 MGI:1341817

Gene Summary

Name:

leucine rich repeat containing G protein coupled receptor 5

Synonyms:

Gpr49

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased CD11b-high dendritic cell number	Lgr5^{em1(IMPC)Kmpc}	HET	Early adult	7.90×10^-06
increased CD4-negative, CD25-positive NK T cell number	Lgr5^{em1(IMPC)Kmpc}	HET	Early adult	5.38×10^-05
increased CD8-positive, CD25-positive alpha-beta T cell number	Lgr5^{em1(IMPC)Kmpc}	HET	Early adult	1.30×10^-07
no spontaneous movement	Lgr5^{em1(IMPC)Kmpc}	HOM	E18.5	0.00
cleft palate	Lgr5^{em1(IMPC)Kmpc}	HOM	E18.5	0.00
increased grip strength	Lgr5^{em1(IMPC)Kmpc}	HET	Early adult	6.24×10^-06
increased circulating bilirubin level	Lgr5^{em1(IMPC)Kmpc}	HET	Early adult	2.33×10^-05
preweaning lethality, complete penetrance	Lgr5^{em1(IMPC)Kmpc}	HOM	Early adult	0.00
no spontaneous movement	Lgr5^{em1(IMPC)Kmpc}	HET	E18.5	0.00

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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.

X-ray

XRay Images Forepaw

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Hind Leg and Hip

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

16 Images

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Eye Morphology

Images Ophthalmoscopy

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Eye Morphology

Images Slit Lamp

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Human diseases caused by Lgr5 mutations

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

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

Human diseases associated with Lgr5 (0 diseases)
Human diseases predicted to be associated with Lgr5 (944 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Lgr5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Orofacial Cleft 11	Cleft lip, Cleft palate	OMIM:600625
Syngnathia	Cleft palate	OMIM:119550
Pierre Robin Syndrome	Neonatal respiratory distress, Feeding difficulties in infancy, Pierre-Robin sequence, Upper airw...	OMIM:261800
Glutathione Peroxidase Deficiency	Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia	OMIM:614164
Congenital Pancreatic Cyst	Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting	ORPHA:313906
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Perching Syndrome	Respiratory distress, Cyanosis, Feeding difficulties, High palate, Dysphagia	OMIM:617055
Isolated Pierre Robin Syndrome	Glossoptosis, Neonatal respiratory distress, Upper airway obstruction, Cleft palate	ORPHA:718
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia, Fava bean-induced hemolytic anemia	OMIM:618660
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia	OMIM:179700
Trehalase Deficiency	Malabsorption, Abdominal pain, Abdominal distention, Diarrhea, Vomiting	ORPHA:103909
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Abdominal colic, Vomiting, Diarrhea	ORPHA:35122
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Tongue fasciculations, Respiratory failure, Dysphagia	OMIM:613435
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp...	OMIM:237800
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79235
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Nasogastric tube feeding in infancy, Dyspnea, Upper airway obstruction, Cle...	ORPHA:141152
Pontocerebellar Hypoplasia, Type 1C	Respiratory insufficiency, Feeding difficulties, Respiratory failure, Tongue fasciculations, Deat...	OMIM:616081
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Apnea, Intercostal retractions, Wheezing, Feeding difficulties, S...	ORPHA:137935
Laryngotracheoesophageal Cleft	Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Impaired oropharyngeal swallow ...	ORPHA:2004
Intestinal Dysmotility Syndrome	Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d...	OMIM:620045
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Spinal Muscular Atrophy, Type I	Respiratory failure, Tongue fasciculations, Respiratory insufficiency, Death in childhood	OMIM:253300
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Cleft palate	OMIM:172880
Nemaline Myopathy 8	Death in infancy, Respiratory failure, Gastrostomy tube feeding in infancy, Dysphagia	OMIM:615348
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory insufficiency, Feeding difficulties, Respiratory fai...	OMIM:611722
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Tooth agenesis, Non-midline cleft lip, Cleft palate	ORPHA:1074
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Abdominal ...	ORPHA:103907
Lethal Congenital Contracture Syndrome 3	Neonatal death, Respiratory insufficiency	OMIM:611369
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea	OMIM:616868
Neuralgic Amyotrophy	Cleft palate, Acrocyanosis, Respiratory insufficiency, Narrow mouth	ORPHA:2901
Cholestasis, Progressive Familial Intrahepatic, 12	Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Hyperbiliru...	OMIM:620010
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio...	ORPHA:2924
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce...	ORPHA:266
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Nasogastric tube feeding in infancy, Dyspnea,...	ORPHA:90117
Adiposis Dolorosa	Abdominal distention, Constipation, Painful subcutaneous lipomas	OMIM:103200
Primary Effusion Lymphoma	Dyspnea, Abdominal distention, Pleural effusion, Abdominal pain	ORPHA:48686
Malaria	Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Thrombocytopenia	ORPHA:673
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Cleft palate, Respiratory insufficiency, Restrictive ventilatory defect, Re...	OMIM:614399
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Cleft pal...	OMIM:174300
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode, Apnea, Feeding difficulties	OMIM:610992
Solar Urticaria	Dyspnea, Angioedema, Wheezing, Abnormal tongue morphology, Urticaria, Dermatographic urticaria, A...	ORPHA:97230
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Hypercholanemia, Familial, 2	Increased serum bile acid concentration, Unconjugated hyperbilirubinemia	OMIM:619256
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Respiratory failure, Dysphagia, Feeding difficulties	OMIM:225753
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Thyroid Hemiagenesis	Macroglossia, Abdominal distention, Jaundice, Constipation	ORPHA:95719
Peroxisome Biogenesis Disorder 8A (Zellweger)	Feeding difficulties in infancy, Death in infancy, Jaundice, Glossoptosis	OMIM:614876
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Gastrointestinal dysmotility, Respiratory failure, Dysphagia	OMIM:618637
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Tongue, Pigmented Fungiform Papillae Of	Abnormality of the tongue	OMIM:275250
Cleft Palate, Isolated	Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate	OMIM:119540
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Abdominal distention, Dependency on parenteral nutrition...	OMIM:619445
High Altitude Pulmonary Edema	Nausea and vomiting, Orthopnea, Cyanosis, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Cough	ORPHA:330012
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto...	OMIM:601775
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Anorexia, Crackles, Nonproductive cough, ...	ORPHA:1302
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Laryngeal Abductor Paralysis	Stridor, Cyanosis, Dysphagia	OMIM:150260
Congenital Myopathy 14	Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Feeding difficulties, ...	OMIM:618414
Cleft Palate-Lateral Synechia Syndrome	Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth	ORPHA:2016
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence	OMIM:300717
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Hartnup Disorder	Hyperactivity, Cutaneous photosensitivity, Glossitis, Attention deficit hyperactivity disorder	OMIM:234500
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra...	OMIM:619868
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Central Hypoventilation Syndrome, Congenital, 3	Apnea, Central hypoventilation, Feeding difficulties, Chronic constipation, Respiratory failure, ...	OMIM:619483
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Volvulus Of Midgut	Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv...	OMIM:193250
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Malnutrition, Dysphagia, ...	ORPHA:89842
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:612653
2q33.1 deletion syndrome	High palate, Cleft palate	DECIPHER:51
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough	OMIM:263000
Small Bowel Atresia	Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif...	ORPHA:1201
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Pierre Robin Sequence With Facial And Digital Anomalies	Glossoptosis, Pierre-Robin sequence, Cleft palate	OMIM:311895
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Respiratory failure requiring assisted ventilation, Death in infancy, Respiratory insufficiency, ...	OMIM:620265
Athyreosis	Macroglossia, Abdominal distention, Constipation, Feeding difficulties	ORPHA:95713
Kinsship Syndrome	Thin upper lip vermilion, Death in infancy, Abnormal repetitive mannerisms, Thick lower lip vermi...	OMIM:619297
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Intellectual Developmental Disorder, Autosomal Dominant 29	Thin upper lip vermilion, Hyperactivity, Dental crowding, Aggressive behavior, Narrow palate, Sel...	OMIM:616078
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Choanal Atresia	Respiratory distress, Cyanosis, Upper airway obstruction, Feeding difficulties, Choking episodes,...	ORPHA:137914
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
Rotor Syndrome	Conjugated hyperbilirubinemia, Hyperbilirubinemia	ORPHA:3111
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Chronic constipation, Ankyloglossia	OMIM:619352
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:616649
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respiratory failure, M...	ORPHA:1832
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Dyspnea, Abdominal distention	OMIM:174050
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea, Dental crowding, Narrow mouth, Microglossia, Dental malocclusion, Cl...	OMIM:614669
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Abdominal pain, Abdominal distention, Diarrhea, Abnormal fear-induced behavior, Res...	ORPHA:100924
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation, C...	ORPHA:160148
Hepatic Veno-Occlusive Disease	Jaundice, Respiratory failure, Abdominal pain	ORPHA:890
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Edinburgh Malformation Syndrome	Neonatal hyperbilirubinemia	OMIM:129850
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ...	OMIM:615237
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:182900
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory...	OMIM:265120
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure, Poor appetite, Abdominal pain	OMIM:616794
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti...	OMIM:613662
Congenital Arthrogryposis With Anterior Horn Cell Disease	Respiratory insufficiency due to muscle weakness, Feeding difficulties, Respiratory failure, High...	OMIM:611890
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Feeding difficulties in infancy, Respiratory insufficiency due to muscle we...	ORPHA:254875
Primary Peritoneal Carcinoma	Nausea and vomiting, Abdominal distention, Constipation, Abdominal pain	ORPHA:168829
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Apnea, Feeding difficulties, Respiratory failure, Poor suck	OMIM:616277
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	High, narrow palate, Deep philtrum, Downturned corners of mouth, Short philtrum, Widely spaced te...	OMIM:619950
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure, Tongue fasciculations	OMIM:600561
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph...	OMIM:235700
Tetraamelia Syndrome 2	Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate	OMIM:618021
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Feeding difficulties in infancy, Abdominal distention, Macroglossia, Consti...	ORPHA:226313
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Polyphagia, Oligodontia, Widely spaced teeth, Gastroesophageal reflux, Compu...	OMIM:615873
Achondrogenesis, Type Ib	Abdominal distention, Stillbirth, Respiratory insufficiency	OMIM:600972
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure, Nasogastric tube feeding	OMIM:619057
Plummer-Vinson Syndrome	Tongue atrophy, Poor appetite, Abdominal pain, Geophagia, Intra-oral hyperpigmentation, Narrow mo...	ORPHA:54028
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Bile Acid Synthesis Defect, Congenital, 5	Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile...	OMIM:616278
Renal Hypodysplasia/Aplasia 4	Respiratory failure	OMIM:619887
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea...	ORPHA:91359
Hypoglossia With Situs Inversus	Respiratory distress, Feeding difficulties in infancy, Malnutrition, Upper airway obstruction, Hi...	OMIM:612776
Snakebite Envenomation	Epistaxis, Angioedema, Erythema, Neuromuscular dysphagia, Diarrhea, Pseudobulbar paralysis, Respi...	ORPHA:449285
Opitz Gbbb Syndrome	Natal tooth, Feeding difficulties in infancy, Cleft lip, Tracheoesophageal fistula, Cleft palate,...	ORPHA:2745
Hereditary Acrokeratotic Poikiloderma	Telangiectasia of the skin, Premature loss of primary teeth, Abnormality of the dentition, Open b...	ORPHA:2907
Trochlea Of The Humerus, Aplasia Of	Cleft palate	OMIM:191000
Asbestos Intoxication	Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh...	ORPHA:2302
Weaver-Williams Syndrome	Cleft palate, Narrow mouth	ORPHA:3448
Distal 22Q11.2 Microdeletion Syndrome	Thin upper lip vermilion, Bowel incontinence, High, narrow palate, Pyloric stenosis, Cleft palate...	ORPHA:261330
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent...	OMIM:616860
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Intermediate Nemaline Myopathy	High, narrow palate, Respiratory failure, Dysphagia, Long philtrum	ORPHA:171433
Glucose/Galactose Malabsorption	Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption	OMIM:606824
2Q24 Microdeletion Syndrome	Central apnea, Abnormal oral frenulum morphology, Short philtrum, Cleft palate	ORPHA:1617
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo...	OMIM:300908
Malignant Peritoneal Mesothelioma	Dyspnea, Abdominal distention, Ileus, Abdominal pain	ORPHA:168811
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Enamel hypoplasia, Ankylog...	OMIM:618874
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Gastroesophageal reflux, Cough, Pu...	ORPHA:2414
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum...	ORPHA:2590
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Ne...	OMIM:618892
Rh-Null, Regulator Type	Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia	OMIM:268150
Congenital Muscular Dystrophy With Intellectual Disability	Abnormality of the tongue muscle, Respiratory failure, Respiratory insufficiency, Feeding difficu...	ORPHA:370968
Gracile Bone Dysplasia	Death in infancy, Ankyloglossia	OMIM:602361
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip	OMIM:179400
Qazi-Markouizos Syndrome	Abdominal distention, High, narrow palate, Hypoplasia of teeth, Chronic constipation, Open mouth,...	ORPHA:3010
Autosomal Recessive Robinow Syndrome	Death in infancy, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of the dentiti...	ORPHA:1507
Facioscapulohumeral Muscular Dystrophy 1	Restrictive ventilatory defect, Tongue atrophy, Dysphagia, Retinal telangiectasia	OMIM:158900
Orofaciodigital Syndrome I	Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernumerary tooth, Alveo...	OMIM:311200
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Ovarian Fibroma	Abdominal distention, Pleural effusion, Odontogenic keratocysts of the jaw, Abdominal pain	ORPHA:314473
Mitochondrial Complex I Deficiency, Nuclear Type 10	Apnea, Central hypoventilation, Feeding difficulties, Respiratory failure, Dysphagia	OMIM:618233
Hypoadrenocorticism, Familial	Feeding difficulties in infancy, Cyanosis, Vomiting, Apnea	OMIM:240200
Pneumocystosis	Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins...	ORPHA:723
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High, narrow palate, Short philtrum, High palate, Vomiting, Tics, Compulsive behaviors, Abnormal ...	OMIM:619475
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif...	OMIM:610921
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad...	ORPHA:3202
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Poor appetite, Respiratory insufficiency due to muscle weakness, Dyspnea, Diarrhea, Respiratory f...	ORPHA:352447
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Thyroid Hypoplasia	Macroglossia, Abdominal distention, Jaundice, Constipation	ORPHA:95720
Pulmonary Alveolar Proteinosis, Acquired	Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co...	OMIM:610910
Cardiomyopathy, Dilated, 2H	Neonatal death, Tachypnea, Cardiorespiratory arrest, Feeding difficulties	OMIM:620203
Hyperekplexia 4	Respiratory failure, High palate	OMIM:618011
Mitochondrial Neurogastrointestinal Encephalomyopathy	Small intestinal dysmotility, Poor appetite, Abdominal pain, Atrophic muscularis propria, Abdomin...	ORPHA:298
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia...	ORPHA:36238
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al...	ORPHA:178320
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Abdominal...	OMIM:300048
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte...	OMIM:619751
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Respiratory failure, Anorexia	OMIM:619386
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,...	ORPHA:98913
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri...	OMIM:277320
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia	OMIM:214900
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Feeding difficulties,...	OMIM:245400
Robin Sequence-Oligodactyly Syndrome	Glossoptosis, Cleft palate, Abnormality of the dentition	ORPHA:3104
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red...	OMIM:610913
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Vasculitis in the ...	OMIM:620296
Arthrogryposis Multiplex Congenita 6	Neonatal death, Death in infancy, Respiratory failure, Death in childhood	OMIM:619334
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum...	ORPHA:98870
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:610127
Holzgreve Syndrome	Cleft palate, Cleft upper lip	OMIM:236110
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Gastrostomy tube feeding in infancy, Feeding difficulties...	OMIM:620278
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Respiratory failure, Feeding difficulties	OMIM:618240
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Respiratory failure, Dysphagia	OMIM:616867
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Cleft palate, Hy...	ORPHA:2257
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Feeding difficulties, Macroglossia, Respiratory failure, Restrictive ventilatory defect, Dysphagia	OMIM:606612
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy, Impulsivity, Compulsive behaviors, Dysphagia, Violent behavior	ORPHA:216873
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,...	ORPHA:288
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S...	OMIM:224120
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Abdominal pain, Productive cough, Nonproductive cou...	ORPHA:454836
Spondylocostal Dysostosis 1, Autosomal Recessive	Abdominal distention, Protuberant abdomen, Death in infancy	OMIM:277300
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum...	OMIM:185000
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple...	OMIM:266200
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis	ORPHA:713
1Q21.1 Microdeletion Syndrome	Ankyloglossia, High palate, Attention deficit hyperactivity disorder, Long philtrum	ORPHA:250989
Myasthenic Syndrome, Congenital, 10	Respiratory insufficiency due to muscle weakness, Reduced vital capacity, Tongue atrophy	OMIM:254300
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Thin upper lip vermilion, Crackles, Abdominal distention, Dyspnea, Chronic diarrhea, Asthma, Bron...	OMIM:620233
Neuropathy, Congenital Hypomyelinating, 3	Gingival overgrowth, Respiratory insufficiency, Narrow palate, Respiratory failure, High palate, ...	OMIM:618186
Congenital Disorder Of Glycosylation, Type Ih	Death in infancy, Abdominal distention, Diarrhea, Vomiting, Decreased liver function, Protein-los...	OMIM:608104
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Neonatal respiratory distress, Aggressive behavior, Respiratory insufficiency, Congenital larynge...	OMIM:618356
Acquired Methemoglobinemia	Respiratory distress, Cyanosis, Abdominal pain, Dyspnea, Hypoxemia, Vomiting	ORPHA:464453
Amyotrophic Lateral Sclerosis	Nausea and vomiting, Dyspnea, Xerostomia, Abnormal respiratory system physiology, Respiratory fai...	ORPHA:803
Breath-Holding Spells	Cyanosis	OMIM:607578
Omphalocele-Cleft Palate Syndrome, Lethal	Bifid uvula, Cleft palate	OMIM:258320
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Mercury Poisoning	Respiratory distress, Anorexia, Dyspnea, Episodic abdominal pain, Respiratory failure, Interstiti...	ORPHA:330021
Infantile Sialic Acid Storage Disease	Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes	OMIM:269920
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Erosion of oral mucosa, Anal fissure, Oral mucosal blisters, Carious teeth, Malnutrition, Fragile...	ORPHA:79408
Pontocerebellar Hypoplasia Type 1	Congenital laryngeal stridor, Respiratory failure, Tongue fasciculations, Feeding difficulties	ORPHA:2254
Vacterl Association With Hydrocephalus	Anal atresia, Respiratory failure, Stillbirth, Respiratory insufficiency	OMIM:276950
Restrictive Dermopathy 2	Respiratory distress, Cyanosis, Rectal prolapse, Feeding difficulties, Gastroesophageal reflux	OMIM:619793
Burning Mouth Syndrome	Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost...	ORPHA:353253
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu...	ORPHA:91547
Muscular Dystrophy, Congenital, 1B	Respiratory failure	OMIM:604801
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure, Gastroesophageal reflux, Decreased liver function, Dysphagia, Gastrostomy tu...	ORPHA:70472
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of...	ORPHA:199306
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch...	OMIM:607625
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Epistaxis, Aggressive behavior, Impulsivity, Asthma, Thi...	ORPHA:293939
Sepsis In Premature Infants	Cyanosis, Abnormal mucociliary clearance, Abdominal distention, Jaundice, Gastrointestinal dysmot...	ORPHA:90051
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Tongue atrophy, Dysphagia	ORPHA:496689
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy	ORPHA:103910
Letterer-Siwe Disease	Dyspnea, Abdominal distention, Jaundice, Stomatitis	OMIM:246400
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di...	OMIM:155310
Ciliary Dyskinesia, Primary, 5	Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat...	OMIM:608647
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er...	OMIM:232800
Anterior Cutaneous Nerve Entrapment Syndrome	Anorexia, Abdominal pain, Abdominal distention, Recurrent infection of the gastrointestinal tract...	ORPHA:51890
Wolman Disease	Nausea and vomiting, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea, Hepatic f...	ORPHA:75233
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Cleft palate, Non-midline cleft lip, Lip pit	ORPHA:1072
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Dyspnea, Res...	ORPHA:2759
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, High, narrow palate, Feeding difficulties, Wide mouth, Abnormal up...	ORPHA:2707
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Feeding difficulties, Respiratory failure, Stillbirth, Decreased liver function...	OMIM:614922
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Neonatal hyperbilirubinemia	ORPHA:3363
Neuromyelitis Optica Spectrum Disorder	Respiratory failure, Nausea	ORPHA:71211
Biliary Atresia, Extrahepatic	Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin	OMIM:210500
Chiari Malformation Type Ii	Cyanosis, Feeding difficulties, Inspiratory stridor, Dysphagia	OMIM:207950
Robinow Syndrome	Dental crowding, Persistence of primary teeth, Dental malocclusion, Gingival overgrowth, Orofacia...	ORPHA:97360
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Intestinal malrotation, Deep philtrum, Cleft palate, Feeding difficulti...	ORPHA:404440
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis	ORPHA:71277
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Multiple Mitochondrial Dysfunctions Syndrome 3	Respiratory failure, High palate, Respiratory insufficiency, Feeding difficulties	OMIM:615330
Congenital Myasthenic Syndrome	Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle...	ORPHA:98914
Lead Poisoning	Delayed eruption of teeth, Miscarriage, Anorexia, Abdominal pain, Abdominal distention, Asthma, A...	ORPHA:330015
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Gastroparesis, Respiratory insufficiency due to m...	ORPHA:70
Chilton-Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Epistaxis, Aggressive behavior, Asthma, Agenesis of incisor, Episodic v...	OMIM:619841
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Abdominal pain, Feeding difficulties, Respiratory failure, Dysphagia	OMIM:620166
Combined Oxidative Phosphorylation Defect Type 23	Cyanosis, Feeding difficulties in infancy, Stridor, Respiratory failure, Paroxysmal dyspnea	ORPHA:444013
Folinic Acid-Responsive Seizures	Respiratory distress, Abdominal distention, Apnea	ORPHA:79097
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Respiratory insufficiency	OMIM:610773
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin	OMIM:616299
Hereditary Methemoglobinemia	Lip discoloration, Cyanosis, Exertional dyspnea	ORPHA:621
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Downturned corners of mouth, Ankyloglossia, Cleft palate, Feeding difficulties	ORPHA:488642
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90037
Facial Clefting, Oblique, 1	Cleft palate, Cleft upper lip	OMIM:600251
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Respiratory failure, Dysphagia	OMIM:613954
Alternating Hemiplegia Of Childhood	Respiratory distress, Exaggerated cupid's bow, Apnea, Anorexia, Oral-pharyngeal dysphagia, Aggres...	ORPHA:2131
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Accessory oral frenulum	ORPHA:1373
Acute Interstitial Pneumonia	Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato...	ORPHA:79126
Cataract-Intellectual Disability-Hypogonadism Syndrome	Prematurely aged appearance, Feeding difficulties in infancy, Furrowed tongue, High palate, Short...	ORPHA:1387
Peritoneal Cystic Mesothelioma	Abdominal distention, Constipation, Abdominal pain	ORPHA:168816
Spondylometaphyseal Dysplasia, X-Linked	Respiratory failure, Respiratory insufficiency	OMIM:313420
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Apnea, Impulsivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Attention...	OMIM:619580
Hutchinson-Gilford Progeria Syndrome	Delayed eruption of teeth, Prominent superficial blood vessels, Cyanosis, Short lingual frenulum,...	ORPHA:740
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal distention...	ORPHA:92050
Congenital Myopathy 10B, Mild Variant	Reduced forced vital capacity, Recurrent pneumonia, Cleft palate, Respiratory failure, High palat...	OMIM:620249
Liver Failure, Infantile, Transient	Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal distention, J...	OMIM:613070
Meckel Syndrome, Type 8	Abdominal distention, Cleft palate, Cleft upper lip	OMIM:613885
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thin upper lip vermilion, Natal tooth, Carious teeth, Downturned corners of mouth, Gastroesophage...	OMIM:620186
Developmental And Speech Delay Due To Sox5 Deficiency	Exaggerated median tongue furrow, Dental crowding, Aggressive behavior, Narrow palate, Feeding di...	ORPHA:313892
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:243300
Catel-Manzke Syndrome	Glossoptosis, Oral synechia, Cleft palate	ORPHA:1388
Hepatoportal Sclerosis	Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Thrombocyto...	ORPHA:64743
Anencephaly 2	Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge	OMIM:619452
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Feeding difficulties, Downturned corners of mouth, Lobulated tongue, Sh...	OMIM:613443
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Achalasia, Acrocyanosis	ORPHA:2400
Encephalopathy, Ethylmalonic	Death in infancy, Chronic diarrhea, Feeding difficulties, Acrocyanosis, Petechiae	OMIM:602473
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure...	OMIM:614299
Nephrotic Syndrome, Type 1	Abdominal distention, Neonatal respiratory distress, Gastroesophageal reflux, Pyloric stenosis	OMIM:256300
Cirrhosis, Familial	Abdominal distention, Jaundice, Fulminant hepatitis, Esophageal varix, Pulmonary arterial hyperte...	OMIM:215600
Lipoid Proteinosis	Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala...	ORPHA:530
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Gastroesophageal reflux, Apnea	ORPHA:1949
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru...	ORPHA:1667
Congenital Tracheomalacia	Apnea, Decreased peak expiratory flow, Gastroesophageal reflux, Cough, Emphysema, Neonatal respir...	ORPHA:95430
Oculogastrointestinal Muscular Dystrophy	Spontaneous esophageal perforation, Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, ...	ORPHA:1876
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Abdominal distention, Diarrhea, Dyspnea, Episodic abdominal pain, Intermittent jaundice...	ORPHA:100085
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Feeding difficulties, Respiratory failure, Neonatal ...	OMIM:605711
Pontocerebellar Hypoplasia, Type 1B	Tongue atrophy, Tongue fasciculations, Respiratory insufficiency, Feeding difficulties	OMIM:614678
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Death in infancy, Hypoventilation, Abdominal distention, Feeding difficulties, Gastroesophageal r...	OMIM:620275
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion	OMIM:616898
Mirizzi Syndrome	Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, Nausea	ORPHA:521219
Alg1-Cdg	Respiratory failure, Chronic diarrhea, Protein-losing enteropathy, Decreased liver function	ORPHA:79327
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub...	OMIM:613280
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Achondrogenesis Type 1A	Abdominal distention, Long philtrum	ORPHA:93299
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Hyperbilirubinemia	OMIM:235555
Angelman Syndrome Due To A Point Mutation	Protruding tongue, Abnormal eating behavior, Tongue thrusting, Feeding difficulties, Wide mouth, ...	ORPHA:411511
Auriculocondylar Syndrome 1	Apnea, Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterio...	OMIM:602483
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Dyspnea...	OMIM:211530
Al Amyloidosis	Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Nonproductive cough, Dyspnea, X...	ORPHA:85443
Pancreatoblastoma	Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Vomiting	ORPHA:677
Acrocephalopolydactyly	Protuberant abdomen	ORPHA:221054
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m...	ORPHA:952
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co...	OMIM:603553
Auriculocondylar Syndrome	Respiratory distress, Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental ma...	ORPHA:137888
Gaucher Disease, Type Ii	Death in infancy, Apnea, Cough, Feeding difficulties, Stridor, Gastroesophageal reflux, Protubera...	OMIM:230900
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Acute Intermittent Porphyria	Nausea and vomiting, Restlessness, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Respira...	ORPHA:79276
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Feeding d...	OMIM:618426
Pyruvate Dehydrogenase E1-Alpha Deficiency	Long philtrum, Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress	OMIM:312170
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level	ORPHA:70578
Poirier-Bienvenu Neurodevelopmental Syndrome	Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue	OMIM:618732
Orofaciodigital Syndrome Xviii	Diastema, Cleft lip, Short philtrum, Accessory oral frenulum	OMIM:617927
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Jaundice, Feeding difficulties, Hypopnea, Respiratory failure, Dysphagia...	OMIM:617248
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Respiratory failure, Hyperactivity	ORPHA:363400
Congenital Bile Acid Synthesis Defect Type 2	Conjugated hyperbilirubinemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Abnormal serum b...	ORPHA:79303
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thin upper lip vermilion, Short lingual frenulum, Episodic vomiting, Pica, Feeding difficulties, ...	OMIM:617360
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Lactose intolerance, Hyperactivity, Asthma, Wide mouth, Protuberant abdomen, Long philtrum, Open ...	ORPHA:457485
Hijazi-Reis Syndrome	Hyperbilirubinemia	OMIM:301094
Dysostosis Multiplex, Ain-Naz Type	Abdominal distention	OMIM:619345
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO	ORPHA:747
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cleft lip, Cleft palate	OMIM:612370
Esophageal Atresia	Respiratory distress, Feeding difficulties in infancy, Gastrointestinal dysmotility, Vomiting, Ga...	ORPHA:1199
Colonic Atresia	Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis	ORPHA:1198
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Cleft palate	OMIM:217150
Gallbladder Neuroendocrine Tumor	Anorexia, Abdominal distention, Episodic abdominal pain, Intermittent jaundice, Nausea	ORPHA:100086
Hereditary Spherocytosis	Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero...	ORPHA:822
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Respiratory failure	ORPHA:168486
Car T Cell Therapy-Associated Cytokine Release Syndrome	Poor appetite, Diarrhea, Tachypnea, Hypoxemia, Respiratory failure, Vomiting, Pleural effusion, N...	ORPHA:542323
Sialuria	Thin upper lip vermilion, Macroglossia, High palate, Protuberant abdomen, Long philtrum, Attentio...	OMIM:269921
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Tachypnea, Respiratory failure, Constipation, Inspiratory stridor, Ventilator dependence with ina...	OMIM:604320
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Respiratory failure, Nocturnal hypoventilation	OMIM:620326
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Dysphagia, Feeding difficulties, Respiratory failure, Death in childhood, Tube feeding	OMIM:619847
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Exertional dyspnea	OMIM:250800
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia	OMIM:619232
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Feeding difficulties in...	ORPHA:308552
Glucose-Galactose Malabsorption	Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting	ORPHA:35710
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Meconium ileus, Respiratory insufficiency, Feeding difficulties	OMIM:617239
Cronkhite-Canada Syndrome	Intestinal polyposis, Anorexia, Abdominal pain, Malabsorption, Diarrhea, Hypogeusia, Furrowed ton...	ORPHA:2930
Congenital Muscular Dystrophy, Ullrich Type	Respiratory failure, Abnormal palate morphology	ORPHA:75840
Congenital Heart Block	Feeding difficulties in infancy, Pleural effusion, Cyanosis, Crackles	ORPHA:60041
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Non-midline cleft lip, Cleft palate	ORPHA:1484
Hsd10 Disease, Infantile Type	Restlessness, Cyanosis, Gastrointestinal dysmotility, Dysphagia, Paroxysmal bursts of laughter	ORPHA:391428
Congenital Fibrinogen Deficiency	Cyanosis, Abdominal pain, Gingival bleeding, Volvulus, Bruising susceptibility, Subcutaneous hemo...	ORPHA:335
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Glossoptosis, Cleft palate, Long philtrum	ORPHA:166100
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist...	OMIM:270420
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Carious teeth, Thick vermilion border, Widely spaced teeth, Protuberant abd...	OMIM:617102
Criss-Cross Heart	Cyanosis, Respiratory insufficiency, Feeding difficulties	ORPHA:1461
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Neonatal death, Abdominal distention, Microcolon	OMIM:619362
Boutonneuse Fever	Abdominal pain, Diarrhea, Respiratory failure, Nausea, Petechiae	ORPHA:83313
Peroxisome Biogenesis Disorder 4A (Zellweger)	Feeding difficulties in infancy, Death in infancy, Respiratory failure	OMIM:614862
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90036
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Abdominal distention	ORPHA:369
Congenital Bile Acid Synthesis Defect Type 3	Hyperbilirubinemia, Hepatosplenomegaly	ORPHA:79302
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Wide mouth, Death in infancy, Respiratory failure, Short philtrum	ORPHA:1194
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Erythema, Urticari...	ORPHA:343
Gonadoblastoma	Abdominal distention, Abdominal pain	ORPHA:206484
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Death in infancy, Thin upper lip vermilion, Abdominal distention, Alveolar ridge overgrowth, Clef...	OMIM:235255
Deafness-Craniofacial Syndrome	Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala...	ORPHA:3241
Spinocerebellar Ataxia Type 1	Respiratory failure, Dysphagia	ORPHA:98755
Acrodermatitis Enteropathica	Poor appetite, Anorexia, Malabsorption, Chronic diarrhea, Erythema, Abnormality of the tongue, Ch...	ORPHA:37
Thyroid Ectopia	Macroglossia, Abdominal distention, Jaundice, Constipation	ORPHA:95712
Pulmonary Arteriovenous Malformation	Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Gastrointestinal infarctions, Pleural em...	ORPHA:2038
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Pierre-Robin sequence, Feeding difficulties, Glossoptosis, High palate,...	OMIM:613604
Ovarian Fibrothecoma	Abdominal distention, Pleural effusion, Abdominal pain	ORPHA:314478
Combined Oxidative Phosphorylation Deficiency 53	Abdominal distention, Death in infancy, Death in childhood	OMIM:619423
Double Outlet Right Ventricle	Cyanosis, Intestinal malrotation, Submucous cleft hard palate, Tachypnea, Cleft palate, Feeding d...	ORPHA:3426
Epilepsy, Progressive Myoclonic, 9	Microglossia	OMIM:616540
Desmoplastic Small Round Cell Tumor	Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain	ORPHA:83469
Pitt-Hopkins-Like Syndrome 2	Protruding tongue, Feeding difficulties, Wide mouth, Gastroesophageal reflux, Constipation, Hyper...	OMIM:614325
Microvillus Inclusion Disease	Abdominal distention, Diarrhea, Abnormal small intestinal villus morphology, Villous atrophy	ORPHA:2290
Congenital Disorder Of Glycosylation, Type Iiw	Supernumerary tooth, Gastroesophageal reflux, Vomiting, Prolonged neonatal jaundice, Ankyloglossia	OMIM:619525
Peripheral Primitive Neuroectodermal Tumor	Nausea and vomiting, Anorexia, Abdominal distention, Jaundice, Episodic abdominal pain	ORPHA:370348
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Protruding tongue, Abnormal eating behavior, Tongue thrusting, Feeding difficultie...	ORPHA:98794
Whistling Face Syndrome, Recessive Form	Whistling appearance, Narrow mouth, High palate, Long philtrum, Microglossia	OMIM:277720
Multiple Acyl-Coa Dehydrogenase Deficiency	Reye syndrome-like episodes, Dyspnea, Cardiorespiratory arrest, Feeding difficulties, Restrictive...	ORPHA:26791
Meckel Syndrome 14	Cyanosis, Abdominal distention, Pneumothorax, Cardiorespiratory arrest, Protuberant abdomen	OMIM:619879
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Feeding difficulties in infancy, Gastrostomy tube feeding in infancy, Cyanotic episode, Nasogastr...	ORPHA:284417
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anorexia, Abdominal pain, Malabsorption, Diarrhea, Xerostomia, Hematochezia, Hamartomatous polypo...	OMIM:175500
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Protruding tongue, Intercostal muscle weakness, Respiratory insufficiency, Macro...	ORPHA:258
Inflammatory Pseudotumor Of The Liver	Abdominal distention, Vomiting, Nausea, Abdominal pain	ORPHA:90003
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Hypoventilation, Breathing dysregulation, Feeding difficulties	OMIM:618232
Eosinophilic Granulomatosis With Polyangiitis	Nausea and vomiting, Intestinal obstruction, Sinusitis, Cutis marmorata, Malabsorption, Abdominal...	ORPHA:183
Leigh Syndrome	Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency	OMIM:256000
Hereditary Fructose Intolerance	Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Constipation, Vomiting, Chronic hepatic...	ORPHA:469
Scedosporiosis	Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory...	ORPHA:449280
Castleman Disease	Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abdominal distention, Jaundice, Dysp...	ORPHA:160
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Glossoptosis, Pierre-Robin sequence, Cleft palate, Feeding difficulties	OMIM:620269
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia, Splenomegaly	OMIM:601847
Bnar Syndrome	Anteriorly placed anus, Anal stenosis, Short lingual frenulum	ORPHA:217266
Neuroocular Syndrome	Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spaced teeth, Torus...	OMIM:619539
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Protruding tongue, Tongue thrusting, Feeding difficulties, Wide mouth, Widely spaced teeth, Dysph...	ORPHA:98795
Buerger Disease	Acrocyanosis	ORPHA:36258
Pediatric Systemic Lupus Erythematosus	Abdominal pain, Dyspnea, Abdominal distention, Diarrhea, Oral ulcer, Vomiting, Pleural effusion	ORPHA:93552
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Bowel incontinence, Recurrent pneumonia, Feed...	ORPHA:496641
Tricuspid Atresia	Cyanosis	ORPHA:1209
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Submucous cleft hard palate, Bifid uvula, Cleft palate	ORPHA:2521
Glycogen Storage Disease Xii	Normocytic anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Normochromic...	OMIM:611881
Acquired Hypertrichosis Lanuginosa	Macroglossia, Chronic diarrhea, Glossitis, Poor appetite	ORPHA:2221
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia	ORPHA:95717
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an...	OMIM:259720
Niemann-Pick Disease, Type A	Feeding difficulties in infancy, Constipation, Vomiting, Protuberant abdomen, Prolonged neonatal ...	OMIM:257200
Pai Syndrome	Median cleft lip, Bifid uvula, Cleft palate, Abnormal oral frenulum morphology	ORPHA:1993
Orofaciodigital Syndrome Xix	Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m...	OMIM:620107
Necrotizing Enterocolitis	Apnea, Abdominal distention, Diarrhea, Bloody diarrhea, Vomiting	ORPHA:391673
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, High...	OMIM:220110
Congenital Multicore Myopathy With External Ophthalmoplegia	Tented upper lip vermilion, Pneumonia, Abnormal respiratory system physiology, Feeding difficulti...	ORPHA:98905
Malignant Atrophic Papulosis	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal fistula, Telangiectasia of the skin,...	ORPHA:679
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation	OMIM:603689
Orofaciodigital Syndrome Ix	Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft palate, High palat...	OMIM:258865
Terminal Osseous Dysplasia	Cleft palate, Thick vermilion border, Accessory oral frenulum	OMIM:300244
Cholestasis, Progressive Familial Intrahepatic, 1	Conjugated hyperbilirubinemia, Splenomegaly	OMIM:211600
Chylomicron Retention Disease	Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption	ORPHA:71
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Bowel incontinence, Respiratory failure, Gastroesophageal re...	OMIM:616482
Tibial Muscular Dystrophy	Respiratory failure	ORPHA:609
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Nausea and vomiting, Death in infancy, Intestinal malrotation, Hypoperistalsis, Abdominal distent...	ORPHA:2241
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Cutis marmorata, Malabsorption, Feeding difficulties in infancy, Abdominal ...	ORPHA:3260
Congenital Fiber-Type Disproportion Myopathy	Dental crowding, Poor appetite, Hypercapnia, Respiratory insufficiency due to muscle weakness, Na...	ORPHA:2020
Hereditary Folate Malabsorption	Nausea and vomiting, Anorexia, Diarrhea, Cheilitis, Gastroesophageal reflux, Glossitis	ORPHA:90045
Afibrinogenemia, Congenital	Death in infancy, Epistaxis, Hematemesis, Death in adolescence, Gingival bleeding, Death in child...	OMIM:202400
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Hyperactivity, Abnormal eating behavior, Ast...	ORPHA:209905
Immunodeficiency 54	Respiratory failure, Respiratory insufficiency	OMIM:609981
Deafness-Lymphedema-Leukemia Syndrome	Nausea and vomiting, Respiratory failure, Bruising susceptibility	ORPHA:3226
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic...	OMIM:615512
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Respiratory failure	OMIM:610678
Achondrogenesis, Type Ii	Cleft palate, Stillbirth, Protuberant abdomen, Long philtrum	OMIM:200610
Poliomyelitis	Respiratory failure requiring assisted ventilation, Anorexia, Paralytic ileus, Respiratory failur...	ORPHA:2912
Faciocardiomelic Dysplasia, Lethal	Neonatal death, Microglossia, Narrow mouth	OMIM:227270
Microphthalmia, Syndromic 11	Cleft palate, Cleft upper lip	OMIM:614402
Orofaciodigital Syndrome Iv	Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High palate, Tongue...	OMIM:258860
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level	ORPHA:95715
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Respiratory failure, Tented upper lip vermilion, Narrow palate	OMIM:616505
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness, Feeding dif...	OMIM:618291
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:605479
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Neonatal respiratory distress, Apnea, Feeding difficulties in infancy, Diarrhea...	OMIM:608836
Donohue Syndrome	Wide mouth, Abdominal distention, Thick lower lip vermilion, Gingival overgrowth	OMIM:246200
Bile Acid Synthesis Defect, Congenital, 4	Decreased serum bile acid concentration, Hyperbilirubinemia	OMIM:214950
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Splenomegaly, Hypocholesterolemia	OMIM:607765
Celiac Disease, Susceptibility To, 1	Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Vomiting, Recurrent aphthous stom...	OMIM:212750
Idiopathic Pulmonary Hemosiderosis	Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough	ORPHA:99931
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Abdominal distention, Hypoperistalsis	OMIM:619365
Pulmonary Capillary Hemangiomatosis	Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple...	ORPHA:199241
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence	OMIM:192445
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Increased serum bile acid concentration, Hyperbilirubinemia	OMIM:619685
Ovarian Hyperstimulation Syndrome	Nausea and vomiting, Abdominal pain, Abdominal distention, Pleural effusion, Nausea	ORPHA:64739
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Peripartum Cardiomyopathy	Orthopnea, Crackles, Abdominal pain, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pu...	ORPHA:563
Cystic Echinococcosis	Eosinophilia, Abscess, Hyperbilirubinemia, Splenic cyst, Peritoneal abscess	ORPHA:400
Fibrodysplasia Ossificans Progressiva	Respiratory failure, Widely spaced teeth, Respiratory insufficiency	OMIM:135100
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Apnea, Hepatic failure	OMIM:261680
Orofaciodigital Syndrome Type 6	Apnea, Episodic tachypnea, Hamartoma of tongue, Feeding difficulties in infancy, Midline notch of...	ORPHA:2754
Orofaciodigital Syndrome Xv	Lobulated tongue, Midline notch of upper alveolar ridge	OMIM:617127
Platyspondylic Dysplasia, Torrance Type	Abdominal distention, Cleft palate	ORPHA:85166
Ethylmalonic Encephalopathy	Diarrhea, Acrocyanosis, Petechiae	ORPHA:51188
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Feeding difficulties in infancy, Diarrhea, Hypogeusia, Decreased sensitivity to hypoxemia, Gastro...	OMIM:223900
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Bradypnea, Respiratory failure, Restlessness, Death in childhood	OMIM:617186
Sandestig-Stefanova Syndrome	Respiratory failure, High palate, Orofacial cleft	OMIM:618804
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub...	OMIM:251880
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue atrophy, Tongue fasciculations, Respiratory insufficiency	OMIM:620285
Angelman Syndrome	Hyperactivity, Gastrostomy tube feeding in infancy, Protruding tongue, Aggressive behavior, Tongu...	ORPHA:72
Trisomy 8Q	Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum morphology, Everted ...	ORPHA:1752
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Tachypnea, Death in childhood	OMIM:615838
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Intestinal malrotation, Productive cough, Wheezing, Bronchiectasis...	ORPHA:244
Dravet Syndrome	Obsessive-compulsive trait, Cyanotic episode, Impulsivity	ORPHA:33069
Thanatophoric Dysplasia, Type I	Neonatal death, Neonatal respiratory distress, Protuberant abdomen	OMIM:187600
Cardioacrofacial Dysplasia 1	Diastema, Short philtrum, Accessory oral frenulum, Conical tooth	OMIM:619142
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency, Feeding difficul...	OMIM:613845
Lysosomal Acid Lipase Deficiency	Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Jaundi...	ORPHA:275761
Severe Congenital Nemaline Myopathy	Respiratory failure, Dysphagia	ORPHA:171430
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,...	OMIM:200990
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Neonatal respiratory distress, Short lingual frenulum, Feeding difficulties, Widely spaced teeth,...	OMIM:619479
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f...	ORPHA:555874
Lymphatic Malformation 7	Respiratory distress, Abdominal distention, Pleural effusion, Chylothorax	OMIM:617300
Mesomelia-Synostoses Syndrome	Aplasia/Hypoplasia of the uvula, High, narrow palate, Narrow mouth, Abnormal oral frenulum morpho...	ORPHA:2496
Pitt-Hopkins Syndrome	Aganglionic megacolon, Hiatus hernia, Aggressive behavior, Feeding difficulties, Wide mouth, Self...	ORPHA:2896
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia	OMIM:619484
Caroli Syndrome	Liver abscess, Hypersplenism, Conjugated hyperbilirubinemia, Leukocytosis, Leukopenia, Hyperbilir...	ORPHA:480520
Schimke Immuno-Osseous Dysplasia	Abdominal distention, Abnormal primary molar morphology, Abnormal intestine morphology, Hypodonti...	ORPHA:1830
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Spinocerebellar Ataxia Type 36	Tongue atrophy, Bowel incontinence, Tongue fasciculations, Attention deficit hyperactivity disord...	ORPHA:276198
Pulmonary Alveolar Microlithiasis	Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum...	ORPHA:60025
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate	ORPHA:2736
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	ORPHA:234
Fraser Syndrome 2	Intestinal malrotation, Abdominal distention, Rectal atresia, Respiratory failure, Narrow mouth, ...	OMIM:617666
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure, Long philtrum	OMIM:617895
Graft Versus Host Disease	Hemophagocytosis, Hyperbilirubinemia, Hepatosplenomegaly	ORPHA:39812
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Accessory oral frenulum, Hypoplasia of teeth	ORPHA:88630
Bile Acid Synthesis Defect, Congenital, 3	Splenomegaly, Hyperbilirubinemia	OMIM:613812
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy, Abdominal distention, Jaundice, Hepatic failure	OMIM:617156
Bachmann-Bupp Syndrome	Hyperbilirubinemia	OMIM:619075
Kleefstra Syndrome 1	Natal tooth, Protruding tongue, Persistence of primary teeth, Aggressive behavior, Tracheobroncho...	OMIM:610253
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration	OMIM:617049
Aicardi-Goutieres Syndrome 1	Feeding difficulties in infancy, Erythema, Multiple gastric polyps, Prolonged neonatal jaundice, ...	OMIM:225750
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia	OMIM:614886
Complete Atrioventricular Septal Defect	Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Feeding di...	ORPHA:1329
Radio-Renal Syndrome	Respiratory distress, Dyspnea, High, narrow palate, Downturned corners of mouth, Respiratory fail...	ORPHA:3015
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:95716
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea, Respiratory insufficiency, Hepatic failure	ORPHA:159
Waardenburg Syndrome Type 3	Tracheomalacia, Acrocyanosis, Tented upper lip vermilion	ORPHA:896
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Abdominal distention, Alveolar ridge overgrowth, High palate, Protein-l...	ORPHA:1655
Ethylene Glycol Poisoning	Cyanosis, Gastritis, Abnormal pattern of respiration, Tachypnea, Episodic respiratory distress, V...	ORPHA:31826
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Thick lower lip vermilion, Acrocyanosis, Long philtrum	OMIM:614407
Glycine Encephalopathy With Normal Serum Glycine	Respiratory failure, Apnea, Dysphagia	OMIM:617301
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hyperbilirubinemia	OMIM:609734
Agnathia-Otocephaly Complex	Respiratory distress, Aglossia, Cleft palate, Narrow mouth, Tracheomalacia, Microglossia	OMIM:202650
Cholesteryl Ester Storage Disease	Acute hepatic failure, Death in infancy, Diarrhea, Esophageal varix, Vomiting, Protuberant abdome...	OMIM:278000
Polyembryoma	Abdominal distention, Abdominal pain	ORPHA:180229
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Cleft palate, Protuberant abdomen	OMIM:184250
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Protuberant abdomen	OMIM:618272
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Abdominal pain, Neonatal asphyxia, Diarrhea, Erythema, Re...	ORPHA:420741
Tetrasomy 5P	Respiratory distress, Cyanosis, High palate, Long philtrum, Pulmonary arterial hypertension	ORPHA:3309
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Apnea, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, ...	ORPHA:2751
Epidermolysis Bullosa Simplex With Pyloric Atresia	Oral mucosal blisters, Abdominal distention, Congenital pyloric atresia, Skin fragility with non-...	ORPHA:158684
Diaphanospondylodysostosis	Respiratory distress, Respiratory insufficiency, Cleft palate, Protuberant abdomen, Tracheomalacia	OMIM:608022
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Hyperbilirubinemia, Neut...	OMIM:557000
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Aggressive behavior, Dysphagia	ORPHA:488627
Auriculocondylar Syndrome 3	Glossoptosis, Bifid uvula	OMIM:615706
Muscular Dystrophy, Duchenne Type	Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti...	OMIM:310200
X-Linked Acrogigantism	Diastema, Abdominal distention, Polyphagia	ORPHA:300373
Kasabach-Merritt Syndrome	Respiratory distress, Abdominal pain, Abdominal distention, Hypopnea, Petechiae, Purpura	ORPHA:2330
Hereditary Motor And Sensory Neuropathy, Type Iic	Stridor, Respiratory failure, Intercostal muscle weakness	OMIM:606071
Schneckenbecken Dysplasia	Cleft palate, Stillbirth, Protuberant abdomen	OMIM:269250
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectasis, Macroglossia	OMIM:242860
Metatropic Dysplasia	Respiratory failure, Respiratory insufficiency	OMIM:156530
Nephronophthisis 2	Respiratory failure, Respiratory insufficiency	OMIM:602088
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Bowel incontinence, Feeding difficulties in infancy, Respiratory...	ORPHA:365
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy	OMIM:616155
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Thin upper lip vermilion, Cyanosis, High palate	ORPHA:3304
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent...	OMIM:227810
Orofaciodigital Syndrome Iii	Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula	OMIM:258850
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Cyanosis, Apnea, Feeding difficulties in infancy, Respiratory insufficiency, Re...	OMIM:252010
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean...	OMIM:618278
Abetalipoproteinemia	Reticulocytosis, Decreased HDL cholesterol concentration, Acanthocytosis, Decreased LDL cholester...	ORPHA:14
Short-Rib Thoracic Dysplasia 12	Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Respiratory insuffici...	OMIM:269860
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Cutis marmorata, Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion borde...	OMIM:612938
7Q11.23 Microduplication Syndrome	Thin upper lip vermilion, Collectionism, Hyperactivity, Short lingual frenulum, Cutis marmorata, ...	ORPHA:96121
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Neonatal respiratory distress, Protruding tongue, Gingival overgrowth, Wide mouth, Tracheomalacia...	OMIM:618797
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Protruding tongue, Neonatal asphyxia, Jaundice, Respiratory insufficiency, Feed...	OMIM:608779
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide...	OMIM:300602
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Diarrhea, Vomiting, Respiratory failure	ORPHA:3240
Mandibulofacial Dysostosis-Microcephaly Syndrome	Cleft palate, Accessory oral frenulum, Feeding difficulties	ORPHA:79113
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Respiratory distress, Reye syndrome-like episodes, Jaundice, Abdominal dis...	OMIM:256810
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Exaggerated cupid's bow, Feeding difficulties, Macroglossia, Respiratory failure, Open mouth	ORPHA:254528
Cardioacrofacial Dysplasia 2	Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Deep philtrum, Short philtrum...	OMIM:619143
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Central hypoventilation, Aggressive behavior, Celiac disease, Gastroin...	ORPHA:293987
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory failure, Respiratory insufficiency, Feeding difficulties	OMIM:609015
Lethal Acantholytic Erosive Disorder	Natal tooth, Respiratory failure, Fragile skin, Cleft palate	ORPHA:158687
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Chronic lung disease, P...	ORPHA:95455
Carey-Fineman-Ziter Syndrome 1	Pierre-Robin sequence, Bowel irritability, Respiratory insufficiency, Feeding difficulties, Cleft...	OMIM:254940
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Carious teeth, Glossoptosis, Laryngotracheomalacia, Abnormal respiratory system physiology	ORPHA:93346
Moebius Syndrome	Death in infancy, Aplasia/Hypoplasia of the tongue, Feeding difficulties in infancy, Cleft palate...	ORPHA:570
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Conjugated hyperbilirubinemia, Thrombocytopenia	OMIM:208085
Smith-Lemli-Opitz Syndrome	Dental crowding, Gastrointestinal dysmotility, Vomiting, Gastroesophageal reflux, Self-mutilation...	OMIM:270400
Junctional Epidermolysis Bullosa With Pyloric Atresia	Nausea and vomiting, Oral mucosal blisters, Abdominal distention, Congenital pyloric atresia, Ena...	ORPHA:79403
Spinocerebellar Ataxia 36	Tongue atrophy, Tongue fasciculations, Dysphagia	OMIM:614153
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Furrowed tongue	ORPHA:2928
Hypoglossia-Hypodactyly Syndrome	Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Feeding difficulties in infa...	ORPHA:989
Angelman Syndrome	Hyperactivity, Protruding tongue, Feeding difficulties in infancy, Wide mouth, Macroglossia, Cons...	OMIM:105830
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Cleft palate, Tongue nodules, Lobulated tongue, High p...	OMIM:252100
Isolated Right Ventricular Hypoplasia	Hypoxemia, Dyspnea, Cyanosis	ORPHA:439
Microcephaly 26, Primary, Autosomal Dominant	Protruding tongue, Recurrent pneumonia, Gingival overgrowth, Feeding difficulties, Chronic consti...	OMIM:619179
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Recurrent pneumonia, Cleft palate, Furrowed tongue, Constipation, Gas...	OMIM:616449
Infantile Krabbe Disease	Respiratory distress, Nasogastric tube feeding in infancy, Feeding difficulties, Respiratory fail...	ORPHA:206436
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Abdominal pain, Hematemesis, Dyspnea, Diarrhea, Melen...	ORPHA:340
Hypothyroidism, Congenital, Nongoitrous, 2	Feeding difficulties in infancy, Abdominal distention, Stridor, Macroglossia, Constipation	OMIM:218700
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Stomatocytosis	OMIM:608885
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Ileal atresia, Abdominal distention, Elevated...	OMIM:619351
Caroli Disease	Liver abscess, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Abnormal circulating al...	ORPHA:53035
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H...	ORPHA:3008
Nicolaides-Baraitser Syndrome	Smooth philtrum, Thin upper lip vermilion, Short lingual frenulum, Aggressive behavior, High, nar...	OMIM:601358
Mitochondrial Trifunctional Protein Deficiency	Feeding difficulties in infancy, Respiratory insufficiency, Respiratory failure, Poor suck, Chron...	ORPHA:746
Primary Biliary Cholangitis	Celiac disease, Abdominal distention, Jaundice, Gastrointestinal inflammation, Dermatographic urt...	ORPHA:186
Bloom Syndrome	Pneumonia, Poor appetite, Esophageal neoplasm, Chronic pulmonary obstruction, Cheilitis, Telangie...	ORPHA:125
Pallister-Hall-Like Syndrome	Death in infancy, Microglossia, Median cleft lip, Cleft palate	OMIM:241800
Arterial Tortuosity Syndrome	Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Hiatus hernia, Dys...	ORPHA:3342
Intrahepatic Cholestasis Of Pregnancy	Increased serum bile acid concentration, Hyperbilirubinemia	ORPHA:69665
Kallmann Syndrome-Heart Disease Syndrome	Midgut malrotation, Cyanosis, Short lingual frenulum, Cleft palate	ORPHA:2326
Nijmegen Breakage Syndrome	Anal stenosis, Deep philtrum, Non-midline cleft lip, Chronic diarrhea, Recurrent pneumonia, Cleft...	ORPHA:647
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth, Protuberant abdomen	OMIM:151210
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Protuberant abdomen	OMIM:613330
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia	ORPHA:3201
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Feeding difficulties in infancy, Dyspnea, Respiratory insufficiency, Respirator...	OMIM:610505
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Neonatal hyperbilirubinemia	ORPHA:73272
Wilson Disease	Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Splenomegaly, ...	OMIM:277900
Developmental And Epileptic Encephalopathy 31B	Protruding tongue, Gingival overgrowth, Feeding difficulties, Constipation, Tube feeding, Choking...	OMIM:620352
Familial Visceral Myopathy	Abdominal distention, Aganglionic megacolon, Cleft palate	ORPHA:2604
Tarp Syndrome	Cyanosis, Apnea, Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Glossoptosis, Ab...	ORPHA:2886
Lethal Congenital Contracture Syndrome 2	Respiratory failure	OMIM:607598
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:187300
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention, Thin vermilion border	OMIM:602557
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Protruding tongue, Submucous cleft hard palate, Feeding difficulties, Wide mouth...	OMIM:618106
Mucopolysaccharidosis Type 3	Hyperactivity, Malabsorption, Abnormality of the dentition, Aggressive behavior, Hypersexuality, ...	ORPHA:581
Down Syndrome	Prematurely aged appearance, Aganglionic megacolon, Protruding tongue, Abnormality of the dentiti...	ORPHA:870
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia	OMIM:609727
Glucagonoma	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Anorexia, Poor appetite...	ORPHA:97280
Fibrochondrogenesis 2	Protuberant abdomen	OMIM:614524
Fibrochondrogenesis 1	Narrow mouth, Cleft palate, Stillbirth, Protuberant abdomen, Long philtrum	OMIM:228520
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure	ORPHA:1861
Lathosterolosis	Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno...	OMIM:607330
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Cleft palate, Glossoptosis, Everted lower lip...	OMIM:616367
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Abnormal stomach morphology, Neonatal asphyxia, Wheezing, Dyspnea...	ORPHA:141127
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Short uvula, Cleft palate, Agenesis of permanent teeth, Fused teeth, High...	OMIM:614091
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Glossoptosis, Upper airway obstruction, Cleft palate	ORPHA:440354
Reynolds Syndrome	Calcinosis, Splenomegaly, Lymphopenia, Hyperbilirubinemia	OMIM:613471
Bartsocas-Papas Syndrome 2	Accessory oral frenulum, Bilateral cleft lip and palate	OMIM:619339
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure, Nasogastric tube feeding	ORPHA:280210
Ramos-Arroyo Syndrome	Respiratory distress, Aganglionic megacolon, Feeding difficulties in infancy, Carious teeth, Xero...	ORPHA:1051
Congenital Disorder Of Glycosylation, Type Iia	Macrodontia, Protruding tongue, Diastema, Aggressive behavior, Gingival overgrowth, Wide mouth, T...	OMIM:212066
Geleophysic Dysplasia 3	Pneumonia, Dyspnea, Respiratory failure, Thick vermilion border, Long philtrum	OMIM:617809
3-Methylglutaconic Aciduria Type 7	Respiratory failure, Pneumothorax, Feeding difficulties	ORPHA:445038
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Decreased liver function, Respiratory insufficiency, Feeding difficulties	OMIM:618329
Recombinant 8 Syndrome	Cleft upper lip, Abnormality of the dentition, Gingival overgrowth, Cleft palate, Downturned corn...	ORPHA:96167
Congenitally Uncorrected Transposition Of The Great Arteries	Hypoxemia, Cyanosis, Tachypnea	ORPHA:860
Developmental And Epileptic Encephalopathy 80	Death in infancy, Tented upper lip vermilion, Protruding tongue, Feeding difficulties, Wide mouth...	OMIM:618580
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention, Upper airway obstruction	ORPHA:93352
Cerebrocostomandibular Syndrome	Death in infancy, Neonatal respiratory distress, Cleft palate, Feeding difficulties, Glossoptosis...	ORPHA:1393
Psoriasis 14, Pustular	Erythema, Geographic tongue, Furrowed tongue	OMIM:614204
Hartnup Disease	Cutaneous photosensitivity, Glossitis, Gingivitis, Malabsorption	ORPHA:2116
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Conjugated hyperbilirubinemia	OMIM:613404
Fumarase Deficiency	Polycythemia, Hyperbilirubinemia	OMIM:606812
Myasthenia Gravis	Dyspnea, Acrocyanosis, Dysphagia	ORPHA:589
Autoimmune Hepatitis	Splenomegaly, Increased total bilirubin	ORPHA:2137
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Gastrointestinal dysmotility, Abnormal tongue morphology	ORPHA:531151
Fructose-1,6-Bisphosphatase Deficiency	Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia	ORPHA:348
Mulibrey Nanism	Dental crowding, Dental malocclusion, Hypodontia, Microglossia, Enamel hypoplasia	OMIM:253250
You-Hoover-Fong Syndrome	Cleft palate, Paroxysmal bursts of laughter, Accessory oral frenulum	OMIM:616954
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Cyanosis, Apnea, Feeding difficulties, Macroglossia, Pleural effusion	OMIM:261740
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, High, narrow palate, Submucous cleft hard palate, Cleft palate, Fe...	ORPHA:2554
Joubert Syndrome 18	Lobulated tongue, Cleft palate	OMIM:614815
Schimke Immunoosseous Dysplasia	Microdontia, Dyspnea, Pulmonary arterial hypertension, Protuberant abdomen	OMIM:242900
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Erosion of oral mucosa, Pneumonia, Abnormal oral mucosa morphology, Dyspnea...	ORPHA:79404
Acquired Purpura Fulminans	Hepatic failure, Acrocyanosis, Macular purpura	ORPHA:49566
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Nasogastric tube feeding in infancy, Gastrointestinal dysmotility, Cleft palate, Furrowed tongue,...	ORPHA:453499
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to...	ORPHA:158668
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia	OMIM:617093
Charcot-Marie-Tooth Disease, Type 4C	Tongue atrophy, Tongue fasciculations	OMIM:601596
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Aganglionic megacolon, Abdominal distention, Diarrhea, Abnor...	ORPHA:653
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Enamel hypoplasia, Carious teeth, Protuberant abdomen	OMIM:277440
Nocardiosis	Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Pneumo...	ORPHA:31204
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Vomiting, Death in childhood	OMIM:618252
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
X-Linked Dystonia-Parkinsonism	Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue	ORPHA:53351
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Hamartoma of tongue, Cleft lip, Respiratory insufficiency, Cleft palate, Incomplete ...	OMIM:616300
Peroxisome Biogenesis Disorder 13A (Zellweger)	Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration	OMIM:614887
Leigh Syndrome	Gastrointestinal dysmotility, Feeding difficulties, Respiratory failure, Dysphagia, Hepatic failu...	ORPHA:506
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, Feeding difficulties in infancy, Nasogastric tube feeding in infan...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, Feeding difficulties in infancy, Nasogastric tube feeding in infan...	ORPHA:352665
X-Linked Agammaglobulinemia	Sinusitis, Malabsorption, Chronic diarrhea, Recurrent pneumonia, Glossoptosis	ORPHA:47
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Thin upper lip vermilion, Hyperactivity, Restlessness, Aggressive behavior, Diastema, Furrowed to...	OMIM:300534
Currarino Syndrome	Anal stenosis, Perianal abscess, Gastrointestinal obstruction, Abdominal distention, Chronic cons...	OMIM:176450
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia	OMIM:613986
Tarp Syndrome	Meckel diverticulum, Cleft palate, Tongue nodules, Glossoptosis, High palate, Neonatal death, Hep...	OMIM:311900
Mucopolysaccharidosis, Type Vii	Gingival overgrowth, Macroglossia, Widely spaced teeth, Protuberant abdomen, Airway obstruction	OMIM:253220
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis, Pseudobulbar paralysis, Nasogastric tube feeding	ORPHA:268943
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Colitis, Steatorrhea	ORPHA:309031
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure, Abnormality of the dentition	ORPHA:88618
Achondrogenesis, Type Ia	Stillbirth, Protuberant abdomen, Protruding tongue	OMIM:200600
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,...	ORPHA:99103
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Protruding tongue, Stereotypical hand wringing, Feeding difficulties, Everted lower lip vermilion...	OMIM:617804
Fanconi-Bickel Syndrome	Abdominal distention, Hepatic failure	ORPHA:2088
Diarrhea 1, Secretory Chloride, Congenital	Abdominal distention, Secretory diarrhea	OMIM:214700
Melkersson-Rosenthal Syndrome	Macroglossia, Cheilitis, Furrowed tongue	ORPHA:2483
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Atrial Septal Defect, Ostium Primum Type	Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona...	ORPHA:99106
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating porphyrin con...	ORPHA:79277
Carey-Fineman-Ziter Syndrome	Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft palate, Glossoptosis, Thin vermili...	ORPHA:1358
Hereditary Mucoepithelial Dysplasia	Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue	ORPHA:1839
Orofaciodigital Syndrome Type 4	Median cleft lip, Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiv...	ORPHA:2753
Metachromatic Leukodystrophy, Late Infantile Form	Feeding difficulties in infancy, Abdominal distention	ORPHA:309256
Hereditary Cryohydrocytosis With Reduced Stomatin	Conjugated hyperbilirubinemia, Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly	ORPHA:168577
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Enamel hypoplasia, Protuberant abdomen	OMIM:264700
Myopathy, Myofibrillar, 7	Tongue atrophy, Bowel incontinence, Dysphagia	OMIM:617114
20Q11.2 Microduplication Syndrome	Tented philtrum, Tented upper lip vermilion, Gingival overgrowth, Abnormal oral frenulum morphology	ORPHA:363659
Congenital Disorder Of Glycosylation, Type Iig	Thin upper lip vermilion, Feeding difficulties in infancy, Pierre-Robin sequence, Cleft palate, G...	OMIM:611209
Mandibuloacral Dysplasia	Dental crowding, Increased subcutaneous truncal adipose tissue, Abnormal tongue morphology, Hypop...	ORPHA:2457
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Pneumonia	ORPHA:1867
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,...	OMIM:600376
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Cleft palate, Furrowed tongue, Narrow mouth, Open mouth	OMIM:615065
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Aggressive behavior, High, narrow palate, Re...	ORPHA:464738
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal circulating fatty-acid conc...	ORPHA:567983
Viss Syndrome	Chronic gastritis, Prominent superficial blood vessels, High, narrow palate, High palate, Gastroe...	OMIM:619472
Stuve-Wiedemann Syndrome 1	Death in infancy, Pursed lips, Apnea, Carious teeth, Respiratory insufficiency, Feeding difficult...	OMIM:601559
Joubert Syndrome 21	Apnea, Dyspnea, Respiratory failure, Dysphagia, Chronic sinusitis	OMIM:615636
Neu-Laxova Syndrome 2	Cleft palate, High palate, Protuberant abdomen	OMIM:616038
Ring Chromosome 22 Syndrome	Pleural effusion, Inappropriate behavior, Thick vermilion border, Protruding tongue	ORPHA:1446
Hurler Syndrome	Gingival overgrowth, Macroglossia, Thick vermilion border, Protuberant abdomen, Microdontia	OMIM:607014
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Thrombocytopenia, Hyperbilirubinemia, Hypocalcemia, Anemia	ORPHA:163979
9q subtelomeric deletion syndrome	Protruding tongue	DECIPHER:52
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Death in infancy, Pierre-Robin sequence, Gingival overgrowth, Downturned corners of mouth, Respir...	OMIM:300868
Niemann-Pick Disease Type C	Aggressive behavior, Jaundice, Respiratory insufficiency, Feeding difficulties, Respiratory failu...	ORPHA:646
Listeriosis	Respiratory distress, Miscarriage, Pneumonia, Abdominal pain, Jaundice, Diarrhea, Respiratory fai...	ORPHA:533
Rajab Interstitial Lung Disease With Brain Calcifications 1	Intestinal malrotation, Tachypnea, Esophageal varix, Respiratory insufficiency, Feeding difficult...	OMIM:613658
Hypoglossia-Hypodactylia	Microglossia, Aglossia, Narrow mouth	OMIM:103300
Orofaciodigital Syndrome Vi	Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Cleft palate, Incomplete cleft of ...	OMIM:277170
Hypomandibular Faciocranial Dysostosis	Death in infancy, Aplasia/Hypoplasia of the tongue, Cleft palate, Narrow mouth, Bifid uvula	ORPHA:1790
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte...	ORPHA:99104
Opsismodysplasia	Respiratory insufficiency, Protuberant abdomen, Long philtrum	OMIM:258480
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Erythematous oral mucosa, Chronic diarrhea, Recurrent pneumonia, Furrowed tongue, Mele...	OMIM:158310
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Tented upper lip vermilion, Intestinal pseudo...	ORPHA:273
Lethal Kniest-Like Dysplasia	Cleft palate, Protuberant abdomen	ORPHA:2347
Arboleda-Tham Syndrome	Respiratory distress, Thin upper lip vermilion, Neonatal respiratory distress, Intestinal malrota...	OMIM:616268
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granuloma, Hyperbilirubinemia	ORPHA:562639
Giant Cell Arteritis	Epistaxis, Anorexia, Abdominal pain, Gastrointestinal infarctions, Cough, Hepatic failure, Glossitis	ORPHA:397
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hyperbilirubinemia, Thrombocytopenia	ORPHA:464321
Peroxisome Biogenesis Disorder 1A (Zellweger)	Neonatal respiratory distress, Protruding tongue, High, narrow palate, Dysphagia, Feeding difficu...	OMIM:214100
Atelosteogenesis Type Ii	Thin upper lip vermilion, Bilateral cleft palate, Cleft palate, Protuberant abdomen, Long philtru...	ORPHA:56304
Orofaciodigital Syndrome Type 1	Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Hamartoma of tongue...	ORPHA:2750
Mitchell-Riley Syndrome	Hyperbilirubinemia	OMIM:615710
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Conical...	ORPHA:289
Dyggve-Melchior-Clausen Disease	Respiratory insufficiency due to muscle weakness, Hyperactivity, Protuberant abdomen	ORPHA:239
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Hypoventilation, Polydipsia, Spontaneous pneumothorax, Jaundice, Rec...	ORPHA:731
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Epistaxis, Carious teeth, Diarrhea, Enterocolitis, Ulcerative colitis, Oral ulcer, Gingivitis, In...	ORPHA:79259
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Bifid u...	ORPHA:2752
Seckel Syndrome 2	Microdontia, Microglossia	OMIM:606744
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Splenomegaly, Elevated circulating phytanic acid concentration, He...	OMIM:614866
Joubert Syndrome 1	Central apnea, Hyperactivity, Episodic tachypnea, Protruding tongue, Aggressive behavior, Macrogl...	OMIM:213300
Mucolipidosis Type Ii	Respiratory failure requiring assisted ventilation, Gingival overgrowth, Stridor, Restrictive ven...	ORPHA:576
Chand Syndrome	Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla...	ORPHA:1401
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Glossoptosis, Respiratory insufficiency	ORPHA:2031
Yellow Fever	Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat...	ORPHA:99829
Cowden Syndrome 5	Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth, Subcuta...	OMIM:615108
Tuberous Sclerosis Complex	Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive beha...	ORPHA:805
Atelosteogenesis, Type I	Neonatal death, Cleft palate, Stillbirth, Protuberant abdomen	OMIM:108720
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate	ORPHA:2001
Metachromatic Leukodystrophy, Juvenile Form	Abdominal distention	ORPHA:309263
Cranioectodermal Dysplasia 1	High, narrow palate, Ectodermal dysplasia, High palate, Widely spaced teeth, Protuberant abdomen,...	OMIM:218330
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Histiocytoid Cardiomyopathy	Cyanosis, Tachypnea, Cleft palate, Vomiting, Cough	ORPHA:137675
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Protruding tongue, Diastema, Abnormal repetitive mannerisms, Thick lower lip vermilion, Widely-sp...	OMIM:301040
Distal Limb Deficiencies-Micrognathia Syndrome	Cleft palate, High palate, Narrow mouth, Microdontia, Microglossia	ORPHA:1307
Combined Immunodeficiency-Enteropathy Spectrum	Intestinal malrotation, Abdominal distention, Bloody diarrhea, Intestinal atresia, Rectal abscess...	ORPHA:436252
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Splenomegal...	OMIM:619991
Cohen Syndrome	Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Feeding difficulties...	ORPHA:193
Double Outlet Left Ventricle	Cyanosis, Tachypnea, Orofacial cleft	ORPHA:3427
Cleidocranial Dysplasia	Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, Abnormality of the denti...	ORPHA:1452
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Dental crowding, Abnormality of the dentition, Gingival over...	ORPHA:769
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta...	OMIM:610655
Fucosidosis	Acrocyanosis, Vascular skin abnormality, Abnormality of the dentition	ORPHA:349
Hypomandibular Faciocranial Dysostosis	Pursed lips, Aglossia	OMIM:241310
Imerslund-Gräsbeck Syndrome	Angular cheilitis, Poor appetite, Constipation, Vomiting, Glossitis	ORPHA:35858
Lethal Faciocardiomelic Dysplasia	Microglossia, Narrow mouth	ORPHA:1972
Lelis Syndrome	Carious teeth, Hypodontia, Furrowed tongue	ORPHA:140936
Mucolipidosis Ii Alpha/Beta	Recurrent pneumonia, Gingival overgrowth, Wide mouth, Macroglossia, Protuberant abdomen, Death in...	OMIM:252500
Holzgreve Syndrome	Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate	ORPHA:2167
Metachromatic Leukodystrophy, Adult Form	Abdominal distention, Bowel incontinence	ORPHA:309271
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ...	ORPHA:79138
Cowden Syndrome 6	Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth, Subcuta...	OMIM:615109
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90673
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Respiratory failure	OMIM:620327
C Syndrome	Wide mouth, Thick anterior alveolar ridges, High palate, Accessory oral frenulum	OMIM:211750
Marshall-Smith Syndrome	Open mouth, Bruising susceptibility, Gingival overgrowth, Protruding tongue	ORPHA:561
Bifid Nose With Or Without Anorectal And Renal Anomalies	Short lingual frenulum, Anteriorly placed anus, Widely-spaced maxillary central incisors, Short p...	OMIM:608980
Charcot-Marie-Tooth Disease Type 4B2	Difficulty in tongue movements, Reduced vital capacity, Respiratory insufficiency, Tongue atrophy	ORPHA:99956
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Microglossia, Narrow mouth	ORPHA:990
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Tracheoesophageal fistula, Feeding difficulties, High palate, Stomatiti...	OMIM:277380
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Protruding tongue, Gingival overgrowth, Chronic constipation, Gastroe...	OMIM:619777
Odontoonychodermal Dysplasia	Erythema, Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spac...	OMIM:257980
Treacher-Collins Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Abnorm...	ORPHA:861
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enamel hypoplasia, Protuberant abdomen	ORPHA:289157
Juvenile Sialidosis Type 2	Protruding tongue, Gingival overgrowth, Dysphagia	ORPHA:93399
Isolated Biliary Atresia	Conjugated hyperbilirubinemia, Splenomegaly	ORPHA:30391
Absence Of The Pulmonary Artery	Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni...	ORPHA:980
Cerebrocostomandibular Syndrome	Neonatal respiratory distress, Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Pierre...	OMIM:117650
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Neonatal hyperbilirubinemia, Neutropenia	ORPHA:163956
Doors Syndrome	Respiratory distress, Thin upper lip vermilion, Short lingual frenulum, Abnormality of the dentit...	ORPHA:79500
Au-Kline Syndrome	Dental malocclusion, Cleft palate, Feeding difficulties, Downturned corners of mouth, Oligodontia...	OMIM:616580
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Tented upper lip vermilion, Miscarriage, Deep philtrum, Feeding difficulties, Restrictive ventila...	ORPHA:96334
Methylmalonic Acidemia With Homocystinuria Type Cblf	Stomatitis, Glossitis, Cleft palate, Feeding difficulties	ORPHA:79284
Marshall-Smith Syndrome	Eclabion, Irregular dentition, Apnea, Short mandibular rami, Pyloric stenosis, Gingival overgrowt...	OMIM:602535
Senior-Boichis Syndrome	Increased total bilirubin, Anemia, Hepatosplenomegaly	ORPHA:84081
Ogden Syndrome	Iron deficiency anemia, Hyperbilirubinemia, Polycythemia, Thrombocytopenia	OMIM:300855
Degcags Syndrome	Pancytopenia, Congenital hypoplastic anemia, Hepatosplenomegaly, Leukopenia, Iron deficiency anem...	OMIM:619488
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Oral mucosal blisters, Erythema, Feeding difficulties, Smooth tongue, Enamel hypoplasia, Generali...	ORPHA:79396
Bazex-Dupre-Christol Syndrome	Furrowed tongue	OMIM:301845
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence...	ORPHA:364577
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90674
Gm1-Gangliosidosis, Type Ii	Narrow mouth, Protruding tongue, Gingival overgrowth, Dysphagia	OMIM:230600
Raine Syndrome	Death in infancy, Natal tooth, Protruding tongue, Gingival overgrowth, Cleft palate, Wide mouth, ...	OMIM:259775
Eisenmenger Syndrome	Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Abdominal distention, Wh...	ORPHA:97214
Blomstrand Lethal Chondrodysplasia	Natal tooth, Long philtrum, Protuberant abdomen, Protruding tongue	ORPHA:50945
Poems Syndrome	Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter...	ORPHA:2905
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Gastroparesis, Feeding difficulties in infancy, Gastrointestinal dysmotility, Chronic diarrhea, C...	ORPHA:500150
Cranioectodermal Dysplasia 2	Splenomegaly, Hyperbilirubinemia, Polysplenia	OMIM:613610
Orofaciodigital Syndrome Type 10	Cleft soft palate, Accessory oral frenulum, Long philtrum	ORPHA:2756
Hallermann-Streiff Syndrome	Natal tooth, Abnormality of the dentition, High, narrow palate, Supernumerary tooth, Abnormality ...	ORPHA:2108
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Cleft upper lip, Abdominal distention, Esophageal atresia, Respiratory insufficiency, Ectopic anu...	ORPHA:93271
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Protruding tongue, Feeding difficulties, High palate, Constipation, Att...	OMIM:617062
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Abdominal distention, Anal atresia	OMIM:271520
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Fontaine Progeroid Syndrome	High, narrow palate, Anteriorly placed anus, Oligodontia, Gastroesophageal reflux, Microdontia, N...	OMIM:612289
Robinow Syndrome, Autosomal Dominant 1	Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Per...	OMIM:180700
Cowden Syndrome 1	Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth, Subcuta...	OMIM:158350
Smith-Lemli-Opitz Syndrome	Cutis marmorata, Abnormal dental enamel morphology, Aganglionic megacolon, Abnormal dental morpho...	ORPHA:818
Otospondylomegaepiphyseal Dysplasia	Glossoptosis, Bifid uvula, Cleft palate	ORPHA:1427
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper...	OMIM:608670
Costello Syndrome	Pyloric stenosis, Pneumothorax, Thick lower lip vermilion, Respiratory insufficiency, Macroglossi...	OMIM:218040
Proteasome-Associated Autoinflammatory Syndrome 1	Progeroid facial appearance, Erythema, Thick lower lip vermilion, Death in adolescence, Premature...	OMIM:256040
Kleefstra Syndrome Due To 9Q34 Microdeletion	Protruding tongue, Feeding difficulties, Downturned corners of mouth, Macroglossia, Everted lower...	ORPHA:96147
Hardikar Syndrome	Hypersplenism, Splenomegaly, Hepatosplenomegaly, Hyperbilirubinemia, Thrombocytopenia	OMIM:301068
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Cyanosis	OMIM:617478
Robinow Syndrome, Autosomal Dominant 3	Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of permanent teeth, A...	OMIM:616894
Charcot-Marie-Tooth Disease Type 4C	Hypoventilation, Tongue atrophy, Respiratory insufficiency, Tongue fasciculations, Difficulty in ...	ORPHA:99949
Myhre Syndrome	Thin upper lip vermilion, Cleft lip, Respiratory insufficiency, Cleft palate, Respiratory failure...	OMIM:139210
Postinfectious Vasculitis	Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Abdominal pain, Gastrointestinal inflamma...	ORPHA:48435
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia	OMIM:229600
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Orofacial cleft, High palate, Short ...	ORPHA:958
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary embolism, Jaundice, Feeding difficulties, Stomatitis, Pulmonary a...	ORPHA:79282
C Syndrome	Death in infancy, Accessory oral frenulum, Gingival overgrowth, Cleft palate, Thin vermilion bord...	ORPHA:1308
Aortic Arch Interruption	Respiratory distress, Cyanosis, Feeding difficulties in infancy, Tachypnea, Exertional dyspnea	ORPHA:2299
Leprechaunism	Reduced subcutaneous adipose tissue, Abdominal distention, Rectal prolapse, Megarectum, Thick ver...	ORPHA:508
Glycogen Storage Disease Ib	Inflammation of the large intestine, Oral ulcer, Protuberant abdomen	OMIM:232220
Agel Amyloidosis	Tongue atrophy, Bruising susceptibility, Xerostomia, Dermatological manifestations of systemic di...	ORPHA:85448
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Everted lower lip vermilion, Smooth philtrum, Protruding tongue	ORPHA:324410
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Abnormal dental enamel morphology, Dyspnea, Erythema, Feeding difficulties,...	ORPHA:2556
Spondyloepiphyseal Dysplasia Congenita	Glossoptosis, Laryngotracheomalacia, Abnormal respiratory system physiology, Cleft palate	ORPHA:94068
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Glossoptosis, Cleft palate	ORPHA:436003
Congenital Sialidosis Type 2	Protruding tongue, Gingival overgrowth, Petechiae, Telangiectasia	ORPHA:93400
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Asthma, Downturned corners of mouth, Glossoptosis, Macroglossia, Long p...	ORPHA:444077
Pachyonychia Congenita 3	Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue	OMIM:615726
Pyknoachondrogenesis	Abdominal distention, Abnormality of mouth shape	ORPHA:3003
Bilateral Perisylvian Polymicrogyria	Apnea, Protruding tongue, Feeding difficulties, Pseudobulbar paralysis, Gastroesophageal reflux, ...	ORPHA:98889
Weill-Marchesani Syndrome 2	Narrow palate, Tooth malposition, High palate, Protuberant abdomen	OMIM:608328
Dermatomyositis	Telangiectasia of the skin, Feeding difficulties in infancy, Gastrointestinal stroma tumor, Eryth...	ORPHA:221
Icf Syndrome	Macroglossia, Malabsorption, Protruding tongue	ORPHA:2268
Leukocyte Adhesion Deficiency Type Ii	Severe periodontitis, Protruding tongue, Deep philtrum, Chronic diarrhea, Recurrent pneumonia, Gi...	ORPHA:99843
Hypermobile Ehlers-Danlos Syndrome	Nausea and vomiting, Apnea, Abnormality of the dentition, Malabsorption, Gastrointestinal dysmoti...	ORPHA:285
Orofaciodigital Syndrome Type 14	Accessory oral frenulum, Hamartoma of tongue, Supernumerary tooth, Aplasia of the epiglottis, Cle...	ORPHA:434179
Microsporidiosis	Sinusitis, Pneumonia, Anorexia, Abdominal pain, Chronic diarrhea, Rhinitis, Vomiting, Intermitten...	ORPHA:2552
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Intestinal malrotation	OMIM:616749
Greenberg Dysplasia	Neonatal death, Stillbirth, Protuberant abdomen	OMIM:215140
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Abdominal distention, Pyloric stenosis, Submuco...	OMIM:235730
Kawasaki Disease	Nausea and vomiting, Abdominal pain, Jaundice, Diarrhea, Cheilitis, Palmoplantar erythema, Glossitis	ORPHA:2331
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Accessory oral frenulum, Wide mouth, Macroglossia, Widely spaced teeth, High palate, Microdontia,...	OMIM:266920
Charcot-Marie-Tooth Disease Type 1F	Restless legs, Tongue atrophy	ORPHA:101085
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid tongue, Anal at...	OMIM:613091
Goodpasture Syndrome	Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ...	OMIM:233450
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cleft lip, Feeding difficulties, Furrowed tongue, High palate, Gastroesophageal reflux, Broad alv...	OMIM:616975
Vascular Ehlers-Danlos Syndrome	Prematurely aged appearance, Telangiectasia of the skin, Premature loss of primary teeth, Abnorma...	ORPHA:286
Glycogen Storage Disease Ia	Intermittent diarrhea, Protuberant abdomen	OMIM:232200
Plague	Respiratory distress, Chapped lip, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Enterocolitis...	ORPHA:707
Familial Dysautonomia	Feeding difficulties in infancy, Acrocyanosis, Gastroesophageal reflux	ORPHA:1764
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia	OMIM:208500
Biliary, Renal, Neurologic, And Skeletal Syndrome	Abdominal distention, Jaundice, Asthma, Esophageal varix, Gastroesophageal reflux, Everted lower ...	OMIM:619534
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Microdontia, Oral leukoplakia, Furrowed tongue	OMIM:148210
Cardiac Valvular Dysplasia 2	Central cyanosis	OMIM:620067
Robinow Syndrome, Autosomal Recessive 1	Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Gingival overgrowth, Wide ...	OMIM:268310
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cleft palate, Hamartoma of tongue, Accessory oral frenulum	OMIM:616546
Primary Hyperoxaluria	Cutis marmorata, Abnormality of the dentition, Rootless teeth, Abnormal dental pulp morphology, A...	ORPHA:416
Autosomal Dominant Robinow Syndrome	Median cleft lip and palate, Open bite, High, narrow palate, Abnormality of the gingiva, Supernum...	ORPHA:3107
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea	ORPHA:99050
Otopalatodigital Syndrome Type 2	Pierre-Robin sequence, Cleft palate, Glossoptosis, Oligodontia, Narrow mouth, Anodontia	ORPHA:90652
Ritscher-Schinzel Syndrome 2	Intestinal malrotation, High palate, Short philtrum, Protruding tongue	OMIM:300963
Atresia Of Urethra	Abdominal distention	ORPHA:105
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Hypoplastic philtrum, Protru...	OMIM:309580
Coffin-Lowry Syndrome	Cutis marmorata, Rectal prolapse, Thick lower lip vermilion, Dental malocclusion, Narrow palate, ...	OMIM:303600
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Cyanosis, Posteriorly placed anus, Anal atresia, Duodenal atresia	OMIM:306955
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Dyspnea, Submucous cleft hard palate, Cleft palate, Respiratory failure, Thick vermilion border, ...	ORPHA:2636
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hyperbilirubinemia	OMIM:210710
Pelvis-Shoulder Dysplasia	Thick anterior alveolar ridges, Microglossia, Cleft palate	ORPHA:2839
Classical Ehlers-Danlos Syndrome	Prematurely aged appearance, Poor wound healing, Nausea, Hiatus hernia, Rectal prolapse, Chronic ...	ORPHA:287
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Wide mouth, High palate, Short lingual frenulum	ORPHA:1521
Distal Deletion 12Q	Hyperactivity, Median cleft lip, High, narrow palate, Supernumerary tooth, Esophageal atresia, Py...	ORPHA:96149
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Median cleft lip, Accessory oral frenulum, Supernumerary tooth, Aplasia of ...	OMIM:617088
Frontorhiny	Bifid tongue, Cleft palate	ORPHA:391474
Pallister-Hall Syndrome	Natal tooth, Cleft upper lip, Cleft palate, Anteriorly placed anus, Neonatal death, Microglossia,...	OMIM:146510
Ulbright-Hodes Syndrome	Respiratory distress, Pneumothorax, Respiratory failure, Thin vermilion border, High palate, Narr...	ORPHA:3404
Stickler Syndrome	Abnormal dental enamel morphology, Cleft upper lip, Feeding difficulties in infancy, Open bite, C...	ORPHA:828
Neurooculorenal Syndrome	Conjugated hyperbilirubinemia	OMIM:620305
Generalized Pustular Psoriasis	Geographic tongue, Cheilitis	ORPHA:247353
Stüve-Wiedemann Syndrome	Respiratory distress, Apnea, Abnormality of the dentition, Feeding difficulties in infancy, Asthm...	ORPHA:3206
Otopalatodigital Syndrome, Type Ii	Cleft palate, Respiratory insufficiency, Respiratory failure, Stillbirth, Narrow mouth	OMIM:304120
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy...	ORPHA:99125
Pallister-Hall Syndrome	Natal tooth, Accessory oral frenulum, Cleft lip, Paroxysmal bursts of laughter, Cleft palate, Res...	ORPHA:672
Catel-Manzke Syndrome	Cleft upper lip, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Narrow mouth, Bi...	OMIM:616145
Lenz-Majewski Hyperostotic Dwarfism	Prominent scalp veins, Cutis marmorata, Abnormality of the dentition, Cleft palate, Anteriorly pl...	OMIM:151050
Choreoacanthocytosis	Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Protruding tongue...	ORPHA:2388
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Respiratory insufficiency due to muscle weakness, Tongue atrophy	ORPHA:466768
Distal Deletion 15Q	Thin upper lip vermilion, Abnormality of the dentition, Cleft palate, Short philtrum, Attention d...	ORPHA:1596
Peters-Plus Syndrome	Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Exaggerated cupid's bow, C...	OMIM:261540
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Protuberant abdomen	OMIM:618019
Meckel Syndrome, Type 1	Smooth philtrum, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Cleft upper lip, ...	OMIM:249000
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Microglossia	OMIM:263520
Cowden Syndrome	Furrowed tongue, Hamartomatous polyposis, Macroglossia, High palate, Colorectal polyposis, Mucosa...	ORPHA:201
Yunis-Varon Syndrome	Premature loss of primary teeth, Abnormality of dental structure, Pyloric stenosis, High, narrow ...	ORPHA:3472
Hyperoxaluria, Primary, Type I	Acrocyanosis, Cutis marmorata	OMIM:259900
Orofaciodigital Syndrome Xiv	Natal tooth, Hamartoma of tongue, Cleft lip, Supernumerary tooth, Aplasia of the epiglottis, Clef...	OMIM:615948
Cousin Syndrome	Microglossia, Alveolar ridge overgrowth, Cleft palate	OMIM:260660
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia	OMIM:300896
Fraser Syndrome	Death in infancy, Anal stenosis, Dental crowding, Cleft upper lip, Dental malocclusion, Orofacial...	ORPHA:2052
Generalized Arterial Calcification Of Infancy	Respiratory distress, Cyanosis, Feeding difficulties, Vomiting, Pulmonary arterial hypertension	ORPHA:51608
Aicardi-Goutières Syndrome	Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice	ORPHA:51
Truncus Arteriosus	Cyanosis, Tachypnea	ORPHA:3384
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intestinal malrotati...	ORPHA:2729
Meckel Syndrome	Aplasia/Hypoplasia of the tongue, Cleft palate, Furrowed tongue	ORPHA:564
Cardiac Valvular Dysplasia 1	Cyanosis	OMIM:212093
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Splenomegaly, Hypocalcemia, Increased VLDL cholesterol concentration	OMIM:243800
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Neonatal respiratory distress, Intestinal malrotation, Submucou...	OMIM:312870
Down Syndrome	Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Anal atresia	OMIM:190685
Congenitally Corrected Transposition Of The Great Arteries	Cyanosis	ORPHA:216694
Carney Complex	Dorsocervical fat pad, Neoplasm of the stomach, Esophageal neoplasm, Tongue nodules, Neoplasm of ...	ORPHA:1359
Microphthalmia, Syndromic 6	Microglossia, High palate, Bifid uvula, Cleft palate	OMIM:607932

Histopathology

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

There is no histopathology data for Lgr5

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Lgr5.

No publications found that use IMPC mice or data for Lgr5.

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MGI Allele	Allele Type	Produced
Lgr5^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Lgr5^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Lgr5^{em1(IMPC)Kmpc}	Deletion	Mice
Lgr5^{tm374781(L1L2_GT2_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Lgr5 MGI:1341817

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

Eye Morphology

X-ray

Eye Morphology

Human diseases caused by Lgr5 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data