Gene Summary

Name:
leucine rich repeat containing G protein coupled receptor 5
Synonyms:
Gpr49

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
no spontaneous movement Lgr5em1(IMPC)KMPC HET E18.5 0.00
increased circulating bilirubin level Lgr5em1(IMPC)KMPC HET Early adult 2.33×10-05
increased CD8-positive, CD25-positive alpha-beta T cell number Lgr5em1(IMPC)KMPC HET Early adult 1.30×10-07
preweaning lethality, complete penetrance Lgr5em1(IMPC)KMPC HOM   Early adult 0.00
no spontaneous movement Lgr5em1(IMPC)KMPC HOM E18.5 0.00
increased CD4-negative, CD25-positive NK T cell number Lgr5em1(IMPC)KMPC HET   Early adult 5.38×10-05
cleft palate Lgr5em1(IMPC)KMPC HOM E18.5 0.00
increased CD11b-high dendritic cell number Lgr5em1(IMPC)KMPC HET Early adult 7.90×10-06
increased grip strength Lgr5em1(IMPC)KMPC HET   Early adult 8.25×10-06

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Viewing: all phenotypes

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.

Eye Morphology

Images Ophthalmoscopy

16 Images

Eye Morphology

Images Slit Lamp

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Hind Leg and Hip

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Forepaw

16 Images

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.

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 Similarity of
phenotypes
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
Cleft palate, Glossoptosis, Feeding difficulties in infancy, Upper airway obstruction, Neonatal r... OMIM:261800
Van Der Woude Syndrome 2
Cleft upper lip, Anodontia, Cleft palate OMIM:606713
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Compensated hemolytic anemia, Heinz bodies OMIM:614164
Isolated Pierre Robin Syndrome
Glossoptosis, Upper airway obstruction, Cleft palate, Neonatal respiratory distress ORPHA:718
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Cholesterol Pneumonia
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia OMIM:215030
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:179700
Trehalase Deficiency
Malabsorption, Abdominal distention, Abdominal pain, Diarrhea, Vomiting ORPHA:103909
Congenital Pancreatic Cyst
Abdominal distention, Abdominal pain, Anorexia, Vomiting, Jaundice ORPHA:313906
Congenital Sucrase-Isomaltase Deficiency
Diarrhea, Abdominal distention, Vomiting, Abdominal colic ORPHA:35122
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Dysphagia, Tongue fasciculations, Respiratory failure, Tongue atrophy OMIM:613435
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Erythroid hyp... OMIM:237800
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Cleft palate, Feeding difficulties, Aspiration pneumonia, Nasogastric tube ... ORPHA:141152
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Geographic And Fissured Tongue
Geographic tongue, Furrowed tongue OMIM:137400
Phosphoserine Aminotransferase Deficiency
Apnea, Death in infancy, Feeding difficulties, Cyanotic episode OMIM:610992
Laryngotracheal Angioma
Respiratory distress, Apnea, Feeding difficulties, Cyanosis, Vomiting, Wheezing, Cough, Intercost... ORPHA:137935
Laryngotracheoesophageal Cleft
Impaired oropharyngeal swallow response, Cyanosis, Cough, Aspiration, Neonatal respiratory distre... ORPHA:2004
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Feeding difficulties, Respiratory insufficiency, Central apnea, Death in infancy, Respiratory fai... OMIM:611722
Intestinal Dysmotility Syndrome
High palate, Abdominal distention, Feeding difficulties, Projectile vomiting, Diarrhea, Decreased... OMIM:620045
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Death in childhood, Respiratory failure, Tongue fasciculations OMIM:253300
Congenital Laryngomalacia
Cleft palate, Non-midline cleft lip ORPHA:2373
Pyknoachondrogenesis
Stillbirth OMIM:265880
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Dysphagia, Respiratory insufficiency OMIM:617892
Nemaline Myopathy 8
Dysphagia, Gastrostomy tube feeding in infancy, Respiratory failure, Death in infancy OMIM:615348
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Neonatal death OMIM:611369
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Cleft palate, Non-midline cleft lip ORPHA:1074
Colonic Atresia
Abdominal distention, Colonic atresia OMIM:303650
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Malabsorption, Abdominal distention, Abdominal pain, Vomiting, Nausea, Abnormal small ... ORPHA:103907
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
Apnea, Central Sleep
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration OMIM:207720
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Dysphagia, Respiratory insufficiency, High palate, Feeding difficulties OMIM:616323
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Nasogastric tube... ORPHA:90117
Neuralgic Amyotrophy
Respiratory insufficiency, Narrow mouth, Acrocyanosis, Cleft palate ORPHA:2901
Isolated Polycystic Liver Disease
Abdominal distention, Gastroesophageal reflux, Abdominal pain, Respiratory insufficiency, Feeding... ORPHA:2924
Cyanosis And Hepatic Disease
Dyspnea, Cyanosis OMIM:219400
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased serum bile acid concentration, Splen... OMIM:620010
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Dysphagi... ORPHA:266
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Malaria
Anemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Primary Effusion Lymphoma
Dyspnea, Abdominal distention, Abdominal pain, Pleural effusion ORPHA:48686
Solar Urticaria
Urticaria, Dermatographic urticaria, Wheezing, Angioedema, Nausea, Abnormal tongue morphology, Dy... ORPHA:97230
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, High palate, Gastroesophageal reflux, Cleft palate, Respiratory insufficien... OMIM:614399
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Jaundice, Death in infancy, Feeding difficulties in infancy OMIM:614876
Thyroid Hemiagenesis
Constipation, Abdominal distention, Jaundice, Macroglossia ORPHA:95719
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Pontocerebellar Hypoplasia, Type 4
Dysphagia, Respiratory failure, Death in infancy, Feeding difficulties OMIM:225753
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
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Abdominal distention, Vomiting, Secretory diarrhea, ... OMIM:619445
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Van Der Woude Syndrome 1
Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Dysphagia, Gastrointestinal dysmotility, Respiratory failure OMIM:618637
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Episodic hemolytic anemia, Hyperbilirubinemia, Schi... OMIM:601775
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia OMIM:301083
Cleft Palate, Isolated
Gingival overgrowth, Anterior open-bite malocclusion, Increased overbite, Cleft palate OMIM:119540
Cholestasis, Progressive Familial Intrahepatic, 11
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration OMIM:619874
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Laryngeal Abductor Paralysis
Dysphagia, Cyanosis, Stridor OMIM:150260
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Feeding difficulties OMIM:616081
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Adiposis Dolorosa
Abdominal distention, Painful subcutaneous lipomas, Constipation OMIM:103200
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Oral synechia, Cleft palate, Everted lower lip vermilion ORPHA:2016
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Abdominal distention, Feeding difficulties, Hepatic failure, Death in infancy, Jaundice OMIM:618528
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Enterocolitis, Constipation, Vomiting, Abnormality of enteric ganglion morp... OMIM:142623
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Feeding difficulties, Central hypoventilation, Episodic vomiting, Chronic constipation, Re... OMIM:619483
Tetraamelia Syndrome 2
Glossoptosis, Bilateral cleft lip, Ankyloglossia OMIM:618021
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Thick upper lip vermilion, Cleft palate, Abnormality of the dentition, Short philtrum, Thin upper... OMIM:226440
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Orofaciodigital Syndrome V
High palate, Hypodontia, Cleft palate, Feeding difficulties, Bifid tongue, Bifid uvula, Lobulated... OMIM:174300
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Spherocytosis, Type 4
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612653
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Cholestasis, Progressive Familial Intrahepatic, 10
Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercho... OMIM:619868
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure, Feeding difficul... OMIM:605711
Volvulus Of Midgut
Abdominal distention, Constipation, Neonatal intestinal obstruction, Intestinal malrotation, Volv... OMIM:193250
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Cough, Tachypnea, Respiratory failure OMIM:263000
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Anorexia, Cyanosis, Crackles, Wheezing, Cou... ORPHA:1302
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Atresia Of Small Intestine
Abdominal distention, Feeding difficulties, Intestinal malrotation, Vomiting, Intestinal hypoplas... ORPHA:1201
Athyreosis
Feeding difficulties, Abdominal distention, Constipation, Macroglossia ORPHA:95713
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:311895
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Narrow mouth, Constipation, Gastroesophageal reflux, Feeding difficulties, Abnormal esophagus mor... ORPHA:89842
Spherocytosis, Type 2
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Puerto Rican Infant Hypotonia Syndrome
High palate, Narrow palate, Constipation, Abdominal distention, Long philtrum, Open mouth, Chroni... OMIM:600096
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis, Neonatal hyperbilirubinemia OMIM:130600
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory insufficiency, Respiratory failure OMIM:613869
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Gingival overgrowth, Gingival fibromatosis, Median cleft lip and palate, Dy... ORPHA:1832
Ectrodactyly-Cleft Palate Syndrome
Cleft palate OMIM:129830
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... OMIM:616689
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia, Chronic constipation OMIM:619352
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Atrophic gastritis, Cleft palate, Stomach cancer OMIM:137215
Choanal Atresia
Respiratory distress, Feeding difficulties, Tracheomalacia, Cyanosis, Abnormal nasal mucus secret... ORPHA:137914
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Dyspnea, Abdominal distention OMIM:174050
Spherocytosis, Type 1
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:182900
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Cap Polyposis
Constipation, Abdominal distention, Abdominal pain, Diarrhea, Hematochezia, Colorectal polyposis,... ORPHA:160148
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Feeding difficulties in infancy, Recurrent pneum... ORPHA:254875
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Cyanosis, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dysp... OMIM:265120
Hepatic Veno-Occlusive Disease
Respiratory failure, Jaundice, Abdominal pain ORPHA:890
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
Congenital Short Bowel Syndrome
Abdominal distention, Intestinal atresia, Steatorrhea, Intestinal malrotation, Projectile vomitin... OMIM:615237
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Feeding difficulties, Neonatal death, Respiratory failure, Respiratory insufficiency... OMIM:611890
Auriculocondylar Syndrome 2
Dental malocclusion, Narrow mouth, Apnea, Cleft palate, Short mandibular rami, Glossoptosis, Mand... OMIM:614669
Kinsship Syndrome
Wide mouth, Gingival overgrowth, Gastroesophageal reflux, Respiratory arrest, Short philtrum, Dow... OMIM:619297
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Normocytic anemia, Reticulocyt... OMIM:235700
Combined Oxidative Phosphorylation Deficiency 28
Poor appetite, Respiratory failure, Abdominal pain OMIM:616794
Primary Peritoneal Carcinoma
Abdominal distention, Nausea and vomiting, Constipation, Abdominal pain ORPHA:168829
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Feeding difficulties, Poor suck, Death in infancy, Respiratory failure OMIM:616277
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Feeding difficulties, Central hypoventilation, Dysphagia, Respiratory failure OMIM:618233
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Malabsorption, Constipation, Abdominal distention, Abdominal pain, Malnutrition, Intestinal pseud... OMIM:613662
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Tongue fasciculations, Respiratory failure OMIM:600561
Permanent Congenital Hypothyroidism
Constipation, Abdominal distention, Feeding difficulties, Macroglossia, Jaundice ORPHA:226292
Achondrogenesis, Type Ib
Abdominal distention, Respiratory insufficiency, Stillbirth OMIM:600972
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Constipation, Abdominal distention, Macroglossia, Feeding difficulties in i... ORPHA:226313
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy, Feeding difficulties OMIM:618240
Hartnup Disorder
Glossitis, Cutaneous photosensitivity OMIM:234500
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis... OMIM:109270
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, ... OMIM:616278
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
3-Methylglutaconic Aciduria, Type Viii
Apnea, Feeding difficulties, Poor suck, Death in infancy, Respiratory failure OMIM:617248
Hypoglossia With Situs Inversus
High palate, Respiratory distress, Narrow mouth, Hypodontia, Feeding difficulties in infancy, Upp... OMIM:612776
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Respiratory failure, Nasogastric tube feeding, Neonatal respiratory distress OMIM:619057
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Cleft Lip With Or Without Cleft Palate
Non-midline cleft palate, Submucous cleft of soft and hard palate, Non-midline cleft lip ORPHA:1991
Plummer-Vinson Syndrome
Narrow mouth, Cheilitis, Abdominal pain, Esophageal web, Intra-oral hyperpigmentation, Glossitis,... ORPHA:54028
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Reduced forced vital capacity, Cough, Intercostal retractions, Ta... ORPHA:91359
Hereditary Acrokeratotic Poikiloderma
Telangiectasia of the skin, Narrow mouth, Urticaria, Open bite, Abnormality of the dentition, Xer... ORPHA:2907
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Opitz Gbbb Syndrome
High palate, Anal atresia, Ectopic anus, Hypodontia, Cleft palate, Tracheomalacia, Tracheoesophag... ORPHA:2745
Adducted Thumbs Syndrome
High palate, Velopharyngeal insufficiency, High, narrow palate, Cleft palate, Respiratory insuffi... OMIM:201550
Asbestos Intoxication
Oxygen desaturation on exertion, Reduced vital capacity, Hypoxemia, Nonproductive cough, Cyanosis... ORPHA:2302
Glycogen Storage Disease Vii
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Increased total bilir... OMIM:232800
2Q24 Microdeletion Syndrome
Abnormal oral frenulum morphology, Short philtrum, Cleft palate, Central apnea ORPHA:1617
Intermediate Nemaline Myopathy
Dysphagia, Respiratory failure, Long philtrum, High, narrow palate ORPHA:171433
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Feeding difficulties, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Enterocolitis
Abdominal distention, Enterocolitis, Hematochezia, Ulcerative colitis OMIM:226150
Harderoporphyria
Increased circulating ferritin concentration, Splenomegaly, Hemolytic anemia, Neonatal hyperbilir... OMIM:618892
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Snakebite Envenomation
Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory paralysis, Diarrhea, Erythema, Vomit... ORPHA:449285
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Dysphagia, Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to ... ORPHA:2590
Deafness-Craniofacial Syndrome
Short lingual frenulum OMIM:125230
Van Der Woude Syndrome
Cleft upper lip, Hypodontia, Cleft palate, Lip pit, Abnormal salivary gland morphology, Lower lip... ORPHA:888
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... OMIM:616860
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Diarrhea, Nausea, Dysphagia, Dyspnea, Poor appetite, Respiratory failure, Respiratory insufficien... ORPHA:352447
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Enamel hypoplasia, Bilateral cleft lip and palate, Ankyloglossia, Thin upper lip ver... OMIM:618874
Malignant Peritoneal Mesothelioma
Dyspnea, Ileus, Abdominal distention, Abdominal pain ORPHA:168811
Rh-Null, Regulator Type
Hemolytic anemia, Unconjugated hyperbilirubinemia, Stomatocytosis OMIM:268150
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Gastroesophageal reflux, Chronic pulmonary obstruction, Cyanosis, Cough, Pl... ORPHA:2414
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea OMIM:606824
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Tessadori-Van Haaften Neurodevelopmental Syndrome 3
Reduced subcutaneous adipose tissue, Wide mouth, Cleft palate, Excessive wrinkled skin, Eclabion,... OMIM:619950
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:228940
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Abnormality of the tongue muscle, Respiratory failure, Feeding difficu... ORPHA:370968
Orofaciodigital Syndrome I
High palate, Cleft upper lip, Alveolar ridge overgrowth, Supernumerary tooth, Cleft palate, Agene... OMIM:311200
Secondary Short Bowel Syndrome
Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dys... ORPHA:95427
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory insufficiency, Respiratory failure, Hypercapnia OMIM:267480
Facioscapulohumeral Muscular Dystrophy 1
Dysphagia, Retinal telangiectasia, Restrictive ventilatory defect, Tongue atrophy OMIM:158900
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Vomiting, Respiratory failure, Death in infancy OMIM:614299
Autosomal Recessive Robinow Syndrome
Ectopic anus, Wide mouth, Gingival overgrowth, Supernumerary tooth, Hypodontia, Open bite, Abnorm... ORPHA:1507
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Hypoxemia, Cyanosis, Neonatal death, Tachypnea, Cough, Death in infa... OMIM:610921
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... OMIM:613673
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Qazi-Markouizos Syndrome
Abdominal distention, High, narrow palate, Open mouth, Hypoplasia of teeth, Broad philtrum, Chron... ORPHA:3010
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Abdominal distention, Abdominal pain, Pleural effusion ORPHA:314473
Pneumocystosis
Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infect... ORPHA:723
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly OMIM:214900
Hyperekplexia 4
High palate, Respiratory failure OMIM:618011
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Abnormality of the dentition, Cleft palate ORPHA:3104
Gaucher Disease, Type Ii
Apnea, Feeding difficulties, Recurrent aspiration pneumonia, Dysphagia, Protuberant abdomen OMIM:230900
Intellectual Developmental Disorder, Autosomal Dominant 29
High palate, Dental crowding, Narrow mouth, Narrow palate, Long philtrum, Open mouth, Thick vermi... OMIM:616078
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Dysphagia, Tongue atrophy ORPHA:496689
Thyroid Hypoplasia
Constipation, Abdominal distention, Jaundice, Macroglossia ORPHA:95720
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Cyanosis, R... OMIM:610913
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... ORPHA:98870
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Neonatal death, Dysphagia, Pulmonary arterial hyperte... OMIM:619751
Postsynaptic Congenital Myasthenic Syndromes
High palate, Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Exertio... ORPHA:98913
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Feeding difficulties, Respiratory insufficiency, Death in childhood, Neonatal death, Death in inf... OMIM:245400
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Mitochondrial Neurogastrointestinal Encephalomyopathy
Atrophic muscularis propria, Gastroesophageal reflux, Abdominal pain, Abdominal distention, Small... ORPHA:298
Visceral Myopathy, Familial, With External Ophthalmoplegia
Abdominal distention, Abdominal pain, Spontaneous esophageal perforation, Malnutrition, Gastropar... OMIM:277320
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Decreased DLCO, Cough, Pneumonia, Restrictive ventilatory defect, Hypoxemia, Dyspnea OMIM:610910
Hypoadrenocorticism, Familial
Feeding difficulties in infancy, Apnea, Cyanosis, Vomiting OMIM:240200
Arthrogryposis Multiplex Congenita 6
Death in childhood, Respiratory failure, Neonatal death, Death in infancy OMIM:619334
Porphyria Due To Ala Dehydratase Deficiency
Constipation, Abdominal distention, Abdominal pain, Respiratory insufficiency, Diarrhea, Episodic... ORPHA:100924
Hereditary Elliptocytosis
Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemolytic anemia, ... ORPHA:288
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Gastroesophageal reflux, Central sleep apnea, Gastrostomy tube feeding ... ORPHA:70472
Primary Pulmonary Hypoplasia
Apnea, Asthma, Cleft palate, Cyanosis, Tachypnea, Pneumothorax, Abnormal breath sound, Restrictiv... ORPHA:2257
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Abdominal distention, Intestinal malrotation, Vomiting, Pyloric stenosis, Feeding difficulties in... OMIM:300048
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Anisocytosis, Schistocytosis, ... OMIM:224120
Infant Acute Respiratory Distress Syndrome
Cyanosis, Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring ORPHA:70587
Pyruvate Kinase Deficiency Of Red Cells
Splenomegaly, Decreased hemoglobin concentration, Chronic hemolytic anemia, Unconjugated hyperbil... OMIM:266200
Meckel Syndrome, Type 8
Cleft upper lip, Abdominal distention, Cleft palate OMIM:613885
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Multiple Mitochondrial Dysfunctions Syndrome 3
High palate, Respiratory insufficiency, Respiratory failure, Feeding difficulties OMIM:615330
Idiopathic Acute Eosinophilic Pneumonia
Abdominal pain, Respiratory insufficiency, Cough, Restrictive ventilatory defect, Abnormal patter... ORPHA:724
Avian Influenza
Respiratory distress, Miscarriage, Abdominal pain, Nonproductive cough, Diarrhea, Vomiting, Tachy... ORPHA:454836
Inflammatory Pseudotumor Of The Liver
Nausea, Abdominal distention, Vomiting, Abdominal pain ORPHA:90003
Spondylocostal Dysostosis 1, Autosomal Recessive
Abdominal distention, Death in infancy, Protuberant abdomen OMIM:277300
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Decreased hemoglobin concentration, Reticulocytosis, Hyperbilirubinemia ORPHA:713
Myasthenic Syndrome, Congenital, 10
Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Tongue atrophy OMIM:254300
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Tachypnea, ... ORPHA:60032
Holzgreve Syndrome
Cleft upper lip, Cleft palate OMIM:236110
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Dysphagia, Respiratory failure, Neonatal respiratory distress OMIM:616867
Breath-Holding Spells
Cyanosis OMIM:607578
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Congenital Myasthenic Syndrome
High palate, Nasal regurgitation, Episodic respiratory distress, Gastroesophageal reflux, Respira... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
High palate, Nasal regurgitation, Episodic respiratory distress, Gastroesophageal reflux, Respira... ORPHA:98914
Distal 22Q11.2 Microdeletion Syndrome
Narrow mouth, High, narrow palate, Cleft palate, Pyloric stenosis, Ankyloglossia, Thin upper lip ... ORPHA:261330
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Abdominal distention, Diarrhea, Long philtrum, Neonatal death, Vomiting... OMIM:608104
Restrictive Dermopathy 2
Respiratory distress, Gastroesophageal reflux, Feeding difficulties, Cyanosis, Rectal prolapse OMIM:619793
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Narrow mouth, Oral mucosal blisters, Gastroesophageal reflux, Generalized abnormality of skin, Fr... ORPHA:79408
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Vacuolated lymphocytes, Splenomegaly OMIM:269920
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... ORPHA:91547
Gracile Bone Dysplasia
Ankyloglossia OMIM:602361
Vacterl Association With Hydrocephalus
Anal atresia, Respiratory insufficiency, Stillbirth, Respiratory failure OMIM:276950
Acquired Methemoglobinemia
Respiratory distress, Abdominal pain, Cyanosis, Vomiting, Hypoxemia, Dyspnea ORPHA:464453
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Aplasia/Hypoplasia of the tongue, Dyspnea, Abnormal lip morphology, Abnorma... ORPHA:2759
Bifid Uvula
Cleft lip, Submucous cleft soft palate, Bifid uvula ORPHA:99771
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Chronic rhinitis, Recurrent sinusit... OMIM:608647
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Wide mouth, High, narrow palate, Feeding difficulties, Thin vermilion borde... ORPHA:2707
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... ORPHA:247598
Neuromyelitis Optica Spectrum Disorder
Nausea, Respiratory failure ORPHA:71211
Proximal Spinal Muscular Atrophy
Constipation, Gastroesophageal reflux, Hypoventilation, Poor suck, Recurrent aspiration pneumonia... ORPHA:70
Letterer-Siwe Disease
Dyspnea, Stomatitis, Abdominal distention, Jaundice OMIM:246400
Sepsis In Premature Infants
Decreased liver function, Petechiae, Abdominal distention, Enterocolitis, Cyanosis, Abnormal resp... ORPHA:90051
Wolman Disease
Abdominal distention, Hepatic failure, Steatorrhea, Esophageal varix, Malnutrition, Nausea and vo... ORPHA:75233
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, In... OMIM:267700
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Visceral Myopathy 1
Constipation, Abdominal distention, Abdominal pain, Diarrhea, Vomiting, Gastroparesis, Malnutriti... OMIM:155310
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Diarrhea, Protein-losing enteropathy, Hematochezia ORPHA:103910
Robinow Syndrome
Dental malocclusion, Gingival overgrowth, Persistence of primary teeth, Triangular mouth, Tooth m... ORPHA:97360
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly ORPHA:90037
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Hyperbilirubinemia OMIM:614300
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... ORPHA:2919
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Downturned corners of mouth, Ankyloglossia, Feeding difficulties, Cleft palate ORPHA:488642
Combined Oxidative Phosphorylation Deficiency 52
Anorexia, Respiratory failure, Death in infancy OMIM:619386
Rh Deficiency Syndrome
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... ORPHA:71275
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... ORPHA:36238
Chiari Malformation Type Ii
Dysphagia, Cyanosis, Feeding difficulties, Inspiratory stridor OMIM:207950
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Feeding difficulties in infancy, Respiratory failure, Paroxysmal dyspnea, Stridor ORPHA:444013
Burning Mouth Syndrome
Parageusia, Xerostomia, Smooth tongue, Abnormality of taste sensation, Tongue pain, Strawberry to... ORPHA:353253
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis, Lip discoloration ORPHA:621
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea, Abdominal distention ORPHA:79097
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Lip pit, Cleft palate, Non-midline cleft lip ORPHA:1072
Hutchinson-Gilford Progeria Syndrome
High palate, Narrow mouth, Persistence of primary teeth, Hypodontia, Prominent superficial blood ... ORPHA:740
Cataract-Intellectual Disability-Hypogonadism Syndrome
High palate, Prematurely aged appearance, Tooth malposition, Everted lower lip vermilion, Short p... ORPHA:1387
Acute Interstitial Pneumonia
Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Decreased DLCO, Tachypnea, Pleural effusion, ... ORPHA:79126
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Dysphagia, Respiratory failure OMIM:613954
Niemann-Pick Disease, Type C2
Prolonged neonatal jaundice, Jaundice, Respiratory insufficiency, Death in childhood, Death in in... OMIM:607625
Auriculocondylar Syndrome 3
Glossoptosis, Bifid uvula OMIM:615706
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Accessory oral frenulum ORPHA:1373
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Glossoptosis, Respiratory insufficiency, Feeding difficulties, Cleft palate OMIM:618356
Auriculocondylar Syndrome 1
Dental malocclusion, Narrow mouth, Apnea, Cleft palate, Glossoptosis, Anterior open-bite malocclu... OMIM:602483
Hepatoportal Sclerosis
Hyperbilirubinemia, Splenomegaly, Leukopenia, Hypoalbuminemia, Anemia, Thrombocytopenia, Hyperspl... ORPHA:64743
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High palate, Constipation, High, narrow palate, Abdominal pain, Feeding difficulties, Poor suck, ... OMIM:619475
Auriculocondylar Syndrome
Respiratory distress, Dental malocclusion, Narrow mouth, Cleft palate, Feeding difficulties, Glos... ORPHA:137888
1Q21.1 Microdeletion Syndrome
High palate, Ankyloglossia, Long philtrum ORPHA:250989
Catel-Manzke Syndrome
Glossoptosis, Oral synechia, Cleft palate ORPHA:1388
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Tracheoesophageal fistula, Pneumonia, Feeding difficulties... ORPHA:95430
Peritoneal Cystic Mesothelioma
Abdominal distention, Constipation, Abdominal pain ORPHA:168816
Anencephaly 2
Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis OMIM:610773
Cirrhosis, Familial
Abdominal distention, Fulminant hepatitis, Esophageal varix, Pulmonary arterial hypertension, Jau... OMIM:215600
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure, Central sleep apnea ORPHA:168486
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Liver Failure, Infantile, Transient
Abdominal distention, Acute hepatic failure, Vomiting, Feeding difficulties in infancy, Death in ... OMIM:613070
Nephrotic Syndrome, Type 1
Pyloric stenosis, Abdominal distention, Gastroesophageal reflux, Neonatal respiratory distress OMIM:256300
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Achalasia, Acrocyanosis ORPHA:2400
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Abnormal large intestinal mucosa morphology, Abdominal distention, S... ORPHA:92050
Acute Lung Injury
Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:178320
Hypermanganesemia With Dystonia 1
Polycythemia, Increased total iron binding capacity, Hypermanganesemia, Unconjugated hyperbilirub... OMIM:613280
Achondrogenesis, Type Ii
Abdominal distention, Stillbirth, Cleft palate OMIM:200610
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thick upper lip vermilion, Narrow mouth, Constipation, Gastroesophageal reflux, Central sleep apn... OMIM:617360
Oculogastrointestinal Muscular Dystrophy
Malabsorption, Abnormal gastric mucosa morphology, Abdominal distention, Spontaneous esophageal p... ORPHA:1876
Pontocerebellar Hypoplasia, Type 1B
Respiratory insufficiency, Tongue fasciculations, Feeding difficulties, Tongue atrophy OMIM:614678
Lipoid Proteinosis
High palate, Abnormal oral mucosa morphology, Tongue nodules, Dysphagia, Microglossia, Thick lowe... ORPHA:530
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Hypon... ORPHA:1667
Al Amyloidosis
Abdominal distention, Macroglossia, Bruising susceptibility, Nonproductive cough, Xerostomia, Abn... ORPHA:85443
Lipoyltransferase 1 Deficiency
Increased total bilirubin OMIM:616299
Congenital Lethal Erythroderma
Respiratory insufficiency, Malabsorption, Urticaria, Death in infancy ORPHA:1954
Myasthenic Syndrome, Congenital, 24, Presynaptic
Dysphagia, Apnea, Respiratory insufficiency, Feeding difficulties OMIM:618198
Encephalopathy, Ethylmalonic
Petechiae, Feeding difficulties, Death in infancy, Chronic diarrhea, Acrocyanosis OMIM:602473
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory insufficiency, Dysphagia, Tongue atrophy, Nocturnal hypoventila... OMIM:211530
Chilton-Okur-Chung Neurodevelopmental Syndrome
Wide mouth, Asthma, Tube feeding, Short philtrum, Episodic vomiting, Widely spaced teeth, Ankylog... OMIM:619841
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis, Gastroesophageal reflux ORPHA:1949
Mercury Poisoning
Respiratory distress, Episodic abdominal pain, Anorexia, Interstitial pneumonitis, Episodic vomit... ORPHA:330021
Achondrogenesis Type 1A
Abdominal distention, Long philtrum ORPHA:93299
Congenital Hypothyroidism
Sinusitis, Constipation, Abdominal distention, Macroglossia, Tracheoesophageal fistula, Oral clef... ORPHA:442
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Splenomegaly OMIM:235555
Acrofacial Dysostosis, Weyers Type
Hypodontia, Abnormality of the dentition, Advanced eruption of teeth, Conical tooth, Solitary med... ORPHA:952
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Flushing, Constipation, Abdominal distention, Anorexia, Diarrhea, Vo... ORPHA:2131
Lead Poisoning
Abdominal cramps, Asthma, Miscarriage, Constipation, Abdominal distention, Abdominal pain, Anorex... ORPHA:330015
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... OMIM:618695
Facial Clefting, Oblique, 1
Cleft upper lip, Cleft palate OMIM:600251
Pancreatoblastoma
Abdominal distention, Abdominal pain, Diarrhea, Vomiting, Jaundice ORPHA:677
Alg1-Cdg
Decreased liver function, Protein-losing enteropathy, Respiratory failure, Chronic diarrhea ORPHA:79327
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Protruding tongue, Smooth philtrum, Open mouth OMIM:618732
Orofaciodigital Syndrome Xviii
Short philtrum, Cleft lip, Diastema, Accessory oral frenulum OMIM:617927
Atypical Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Tongue atrophy ORPHA:216873
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Decreased DLCO, Cough, Restrictive ventilatory defect, Hypoxemia, Dyspnea ORPHA:747
Hereditary Spherocytosis
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, Spontaneou... ORPHA:822
Congenital Bile Acid Synthesis Defect Type 2
Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentrati... ORPHA:79303
Acrocephalopolydactyly
Protuberant abdomen ORPHA:221054
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:70578
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, He... OMIM:603553
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Tube feeding, Feeding difficulties, Death in childhood, Dysphagia, Respiratory failure OMIM:619847
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Peroxisome Biogenesis Disorder 4A (Zellweger)
Feeding difficulties in infancy, Respiratory failure, Death in infancy OMIM:614862
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Constipation, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean, Respi... OMIM:604320
Amyotrophic Lateral Sclerosis
Xerostomia, Abnormal respiratory system physiology, Dyspnea, Nausea and vomiting, Respiratory fai... ORPHA:803
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Primary Hepatic Neuroendocrine Carcinoma
Episodic abdominal pain, Abdominal distention, Anorexia, Diarrhea, Bronchospasm, Nausea, Facial t... ORPHA:100085
Hemifacial Atrophy, Progressive
Dental malocclusion, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention OMIM:619345
Pseudomyxoma Peritonei
Constipation, Abdominal pain, Respiratory insufficiency, Inflammation of the large intestine, Int... ORPHA:26790
Car T Cell Therapy-Associated Cytokine Release Syndrome
Diarrhea, Vomiting, Tachypnea, Nausea, Pleural effusion, Hypoxemia, Poor appetite, Respiratory fa... ORPHA:542323
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Macroglossia, Respiratory insufficiency, Respiratory failure requiring assi... ORPHA:308552
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Colonic Atresia
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Widely spaced teeth, Protuberant abdomen, Carious teeth OMIM:617102
Esophageal Atresia
Respiratory distress, Oral aversion, Cleft palate, Tracheoesophageal fistula, Vomiting, Pyloric s... ORPHA:1199
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cleft palate, Feeding difficulties, Intestinal malrotation, Long philtrum, Bifid uvula, Downturne... ORPHA:404440
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Long philtrum, Cleft palate ORPHA:166100
Criss-Cross Heart
Respiratory insufficiency, Feeding difficulties, Cyanosis ORPHA:1461
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds ORPHA:35710
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Wide mouth, Short philtrum, Respiratory failure, Death in infancy ORPHA:1194
Congenital Muscular Dystrophy, Ullrich Type
Abnormal palate morphology, Respiratory failure ORPHA:75840
Acute Intermittent Porphyria
Ileus, Pseudobulbar paralysis, Constipation, Abdominal pain, Respiratory paralysis, Weakness of m... ORPHA:79276
Orofaciodigital Syndrome Vi
High palate, Cleft upper lip, Accessory oral frenulum, Cleft palate, Tongue nodules OMIM:277170
Congenital Bile Acid Synthesis Defect Type 3
Hepatosplenomegaly, Hyperbilirubinemia ORPHA:79302
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon, Abdominal distention, Neonatal death OMIM:619362
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abdominal distention ORPHA:369
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Bruising susceptibility, Abdominal pain, Cyanosis, Gingival bleeding, Vo... ORPHA:335
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly OMIM:251880
Boutonneuse Fever
Petechiae, Abdominal pain, Diarrhea, Nausea, Respiratory failure ORPHA:83313
Motor Neuropathy, Peripheral, With Dysautonomia
Achalasia, Cyanosis OMIM:252320
Thyroid Ectopia
Constipation, Abdominal distention, Jaundice, Macroglossia ORPHA:95712
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Alveolar ridge overgrowth, Abdominal distention, Cleft palate, Hepatic failure, Prot... OMIM:235255
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Abdominal pain, Diarrhea, Erythema, Intestinal obstruction, Purpura, Recurrent aphthou... ORPHA:343
Sialuria
High palate, Sleep apnea, Long philtrum, Thin upper lip vermilion, Protuberant abdomen, Smooth ph... OMIM:269921
Deafness-Craniofacial Syndrome
Abnormality of the dentition, Short philtrum, Bifid tongue, Short lingual frenulum, Abnormal pala... ORPHA:3241
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Gastroesophageal reflux, Constipation, Feeding difficulties, Hyperventilation, Protru... OMIM:614325
Microphthalmia, Syndromic 11
Cleft upper lip, Cleft palate OMIM:614402
Spinocerebellar Ataxia Type 1
Dysphagia, Respiratory failure ORPHA:98755
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Hyperbilirubinemia, Splenomegaly OMIM:607765
Congenital Disorder Of Glycosylation, Type Iiw
Gastroesophageal reflux, Supernumerary tooth, Vomiting, Prolonged neonatal jaundice, Ankyloglossia OMIM:619525
Pulmonary Arteriovenous Malformation
Hemothorax, Pleural empyema, Cyanosis, Cough, Gastrointestinal infarctions, Hypoxemia, Dyspnea, T... ORPHA:2038
Gonadoblastoma
Abdominal distention, Abdominal pain ORPHA:206484
Anterior Cutaneous Nerve Entrapment Syndrome
Recurrent infection of the gastrointestinal tract, Abdominal distention, Abdominal pain, Anorexia... ORPHA:51890
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory insufficiency, Respiratory failure OMIM:273730
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Lymphatic Malformation 7
Respiratory distress, Abdominal distention OMIM:617300
Ovarian Fibrothecoma
Abdominal distention, Abdominal pain, Pleural effusion ORPHA:314478
Microvillus Inclusion Disease
Villous atrophy, Diarrhea, Abdominal distention, Abnormality of small intestinal villus morphology ORPHA:2290
Combined Oxidative Phosphorylation Deficiency 53
Death in childhood, Abdominal distention, Death in infancy OMIM:619423
Scedosporiosis
Sinusitis, Abnormal jejunum morphology, Pleural empyema, Cough, Pneumonia, Abnormal respiratory s... ORPHA:449280
Whistling Face Syndrome, Recessive Form
High palate, Narrow mouth, Long philtrum, Whistling appearance, Microglossia OMIM:277720
Leigh Syndrome
Abnormal pattern of respiration, Respiratory insufficiency, Respiratory failure OMIM:256000
Terminal Osseous Dysplasia
Abnormal oral frenulum morphology, Cleft palate OMIM:300244
Double Outlet Right Ventricle
Narrow mouth, Cleft palate, Feeding difficulties, Intestinal malrotation, Cyanosis, Tachypnea, Su... ORPHA:3426
Spondyloepimetaphyseal Dysplasia, Shohat Type
Thin vermilion border, Abdominal distention OMIM:602557
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Meckel Syndrome 14
Abdominal distention, Cyanosis, Pneumothorax, Cardiorespiratory arrest, Protuberant abdomen OMIM:619879
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Gastroesophageal reflux, Macroglossia, Hypoventilation, Respiratory insufficiency, Protruding ton... ORPHA:258
Botulism
Constipation, Abdominal pain, Respiratory insufficiency, Xerostomia, Diarrhea, Dysphagia, Nausea ... ORPHA:1267
Desmoplastic Small Round Cell Tumor
Ileus, Nausea and vomiting, Abdominal distention, Abdominal pain ORPHA:83469
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Feeding difficulties, Vomiting, Cardiorespiratory arrest, Restrictive v... ORPHA:26791
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Anal atresia, Abdominal distention, Intestinal malrotation, Rectovaginal fistula, Secretory diarrhea OMIM:270420
Eosinophilic Granulomatosis With Polyangiitis
Asthma, Malabsorption, Sinusitis, Urticaria, Gastroesophageal reflux, Abdominal pain, Cutis marmo... ORPHA:183
Cronkhite-Canada Syndrome
Malabsorption, Abdominal pain, Stomach cancer, Anorexia, Diarrhea, Furrowed tongue, Intestinal po... ORPHA:2930
Hereditary Fructose Intolerance
Constipation, Abdominal distention, Abdominal pain, Diarrhea, Vomiting, Chronic hepatic failure, ... ORPHA:469
Fibrodysplasia Ossificans Progressiva
Widely spaced teeth, Respiratory insufficiency, Respiratory failure OMIM:135100
Mirizzi Syndrome
Abdominal distention, Abdominal pain, Anorexia, Vomiting, Nausea, Abdominal colic, Jaundice ORPHA:521219
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Elevated circulating creatine ... OMIM:611881
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:2521
Chylomicron Retention Disease
Abdominal distention, Steatorrhea, Diarrhea, Vomiting, Fat malabsorption ORPHA:71
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
High palate, Respiratory distress, Decreased liver function, Death in childhood, Exertional dyspn... OMIM:220110
Acquired Hypertrichosis Lanuginosa
Glossitis, Poor appetite, Chronic diarrhea, Macroglossia ORPHA:2221
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Splenomegaly OMIM:601847
Pediatric Systemic Lupus Erythematosus
Abdominal distention, Abdominal pain, Diarrhea, Vomiting, Pleural effusion, Oral ulcer, Dyspnea ORPHA:93552
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepat... OMIM:259720
Malignant Atrophic Papulosis
Telangiectasia of the skin, Abdominal pain, Nausea and vomiting, Gastrointestinal infarctions, In... ORPHA:679
Tricuspid Atresia
Cyanosis ORPHA:1209
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia OMIM:214950
Congenital Multicore Myopathy With External Ophthalmoplegia
High palate, Feeding difficulties, Tented upper lip vermilion, Pneumonia, Abnormal respiratory sy... ORPHA:98905
Castleman Disease
Abdominal distention, Abdominal pain, Cough, Intestinal obstruction, Dyspnea, Nausea and vomiting... ORPHA:160
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Hemothorax, Cyanosis, Elevated pulmonary artery pressure, Decreased DLCO, Pleural effu... ORPHA:199241
Triosephosphate Isomerase Deficiency
Respiratory distress, Jaundice, Respiratory insufficiency, Death in adolescence, Death in infancy... OMIM:615512
Faciocardiomelic Dysplasia, Lethal
Microglossia, Narrow mouth, Neonatal death OMIM:227270
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Neonatal death OMIM:601612
X-Linked Acrogigantism
Sleep apnea, Abdominal distention, Diastema, Polyphagia, Snoring ORPHA:300373
Afibrinogenemia, Congenital
Hematemesis, Bruising susceptibility, Death in childhood, Death in adolescence, Neonatal death, G... OMIM:202400
Buerger Disease
Acrocyanosis ORPHA:36258
Bnar Syndrome
Short lingual frenulum, Anal stenosis, Anteriorly placed anus ORPHA:217266
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Nocturnal hypoventilation, Respiratory failure, Reduced vital capacity OMIM:603689
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Malabsorption, Poor appetite, Abdominal distention OMIM:227810
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Respiratory failure ORPHA:363400
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Wide mouth, Asthma, Intestinal polyp, Long philtrum, Open mouth, Protuberant abdomen, Lactose int... ORPHA:457485
Necrotizing Enterocolitis
Apnea, Bloody diarrhea, Abdominal distention, Diarrhea, Vomiting ORPHA:391673
Orofaciodigital Syndrome Ix
High palate, Accessory oral frenulum, Cleft palate, Abnormality of the dentition, Recurrent aspir... OMIM:258865
Niemann-Pick Disease, Type A
Constipation, Vomiting, Feeding difficulties in infancy, Prolonged neonatal jaundice, Protuberant... OMIM:257200
Congenital Fiber-Type Disproportion Myopathy
High palate, Dental crowding, Hypoxemia, Feeding difficulties, Weakness of muscles of respiration... ORPHA:2020
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Splenomegaly OMIM:211600
Pai Syndrome
Abnormal oral frenulum morphology, Median cleft lip, Bifid uvula, Cleft palate ORPHA:1993
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Neonatal death, Tracheomalacia OMIM:245650
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abdominal distention, Intestinal malrotation, Hypoperistalsis, Death in infancy, Microcolon, Naus... ORPHA:2241
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure, Feeding difficul... OMIM:613845
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Asthma, Malabsorption, Colitis, Urticaria, Abdominal distention, Vasculitis... ORPHA:3260
Immunodeficiency 54
Respiratory insufficiency, Respiratory failure OMIM:609981
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Respiratory failure, Bruising susceptibility ORPHA:3226
Neuroocular Syndrome
Short uvula, Torus palatinus, Downturned corners of mouth, Widely spaced teeth, Increased overbit... OMIM:619539
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Apnea, Narrow palate, Respiratory insufficiency, Diarrhea, Vomiting, Feeding difficu... OMIM:608836
Fumarase Deficiency
Polycythemia, Hyperbilirubinemia OMIM:606812
Gallbladder Neuroendocrine Tumor
Abdominal distention, Episodic abdominal pain, Anorexia, Nausea, Intermittent jaundice ORPHA:100086
Idiopathic Pulmonary Hemosiderosis
Crackles, Cough, Restrictive ventilatory defect, Dyspnea, Respiratory failure ORPHA:99931
Hsd10 Disease, Infantile Type
Dysphagia, Cyanosis, Gastrointestinal dysmotility ORPHA:391428
Peripartum Cardiomyopathy
Asthma, Abdominal pain, Paroxysmal dyspnea, Crackles, Orthopnea, Dyspnea, Exertional dyspnea, Pul... ORPHA:563
Cystic Echinococcosis
Hyperbilirubinemia, Eosinophilia, Abscess, Peritoneal abscess, Splenic cyst ORPHA:400
Acute Bilirubin Encephalopathy
Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529808
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Intercostal muscle weakness, Respiratory failure, Obstructive sleep apnea OMIM:606071
Donohue Syndrome
Wide mouth, Gingival overgrowth, Abdominal distention, Thick lower lip vermilion OMIM:246200
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Feeding difficulties, Respiratory failure requiring assisted ventilation, Widely spaced teeth, Re... ORPHA:496641
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Narrow palate, Tented upper lip vermilion, Respiratory failure