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Gene: Lgr5 MGI:1341817

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Gene Summary

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

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
no spontaneous movement Lgr5em1(IMPC)Kmpc HOM E18.5 0.00
no spontaneous movement Lgr5em1(IMPC)Kmpc HET 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 grip strength Lgr5em1(IMPC)Kmpc HET   Early adult 6.24×10-06
increased CD11b-high dendritic cell number Lgr5em1(IMPC)Kmpc HET Early adult 7.90×10-06
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

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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 Skull Dorso Ventral Orientation

16 Images

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Eye Morphology

Images Slit Lamp

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Forepaw

16 Images

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Eye Morphology

Images Ophthalmoscopy

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 Lateral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

16 Images

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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.

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
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