Gene Summary

Name:
SMG1 nonsense mediated mRNA decay associated PI3K related kinase
Synonyms:
5430435M13Rik,  C130002K18Rik,  SMG1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans),  2610207I05Rik

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
preweaning lethality, complete penetrance Smg1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased circulating bilirubin level Smg1tm1b(EUCOMM)Hmgu HET Early adult 2.48×10-06

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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.

Anti-nuclear antibody assay

Images

1 Images

DSS Histology

Images

8 Images

Legacy Phenotype Associated Images

View all 6 images

Human diseases caused by Smg1 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 Smg1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
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
Cysteine Peptiduria
Abnormal circulating cysteine concentration, Abnormal circulating glycine concentration OMIM:219550
Sarcosinemia
Hypersarcosinemia OMIM:268900
Schizophrenia 4
Hyperprolinemia OMIM:600850
Maple Syrup Urine Disease, Mild Variant
Hyperleucinemia, Hyperisoleucinemia OMIM:615135
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Cholestasis, Progressive Familial Intrahepatic, 11
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration OMIM:619874
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... OMIM:151623
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased serum bile acid concentration OMIM:620010
Tumor Predisposition Syndrome 1
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... OMIM:614327
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Sotos syndrome
Mandibular prognathia, Tall stature DECIPHER:17
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Micrognath... OMIM:301045
Aredyld Syndrome
Narrow mouth, Craniofacial hyperostosis, Hepatomegaly, Splenomegaly, Cachexia, Abnormality of the... ORPHA:1133
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... OMIM:619868
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Lung Cancer
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma OMIM:211980
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
High palate, Elevated circulating C-reactive protein concentration, Elevated circulating amyloid ... OMIM:619750
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubul... OMIM:618913
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Thick upper lip vermilion, Cleft palate, Abnormality of the dentition, Short philtrum, Mandibular... OMIM:226440
Immunodeficiency 104
Recurrent otitis media, Hepatomegaly, Splenomegaly, Otitis media, Eczema, T lymphocytopenia, Chro... OMIM:608971
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... OMIM:614480
Immunodeficiency 61
Arthritis, Recurrent sinusitis, Agammaglobulinemia, Colon cancer, Recurrent otitis media, Obesity... OMIM:300310
Alpha-Mannosidosis
Dental malocclusion, Gingival overgrowth, Narrow palate, Hepatomegaly, Craniofacial hyperostosis,... ORPHA:61
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Glycine N-Methyltransferase Deficiency
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Wide mouth, Everted lower lip vermilion, Short philtrum, Truncal obesity, Mandibular prognathia, ... ORPHA:2429
Marfanoid Habitus With Microcephaly And Glomerulonephritis
High palate, High, narrow palate, Disproportionate tall stature, Renal insufficiency, Glomerulone... OMIM:248760
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Intellectual Developmental Disorder, Autosomal Recessive 41
High palate, Hepatomegaly, Splenomegaly, Retrognathia, Recurrent pneumonia, Mandibular prognathia OMIM:615637
Permanent Molars, Secondary Retention Of
Abnormality of the dentition, Mandibular prognathia OMIM:157950
Autosomal Dominant Prognathism
Mandibular prognathia, Everted lower lip vermilion, Open bite ORPHA:2964
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
High palate, Chronic kidney disease, Disproportionate tall stature, Glomerulonephritis, Mandibula... ORPHA:2172
Bazex Syndrome
Lung adenocarcinoma, Neoplasm, Liposarcoma, Anemia, Lip hyperpigmentation ORPHA:166113
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Dental crowding, Mandibular prognathia, Atopic dermatitis, Obesity OMIM:606772
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival overgrowth, Delayed eruption of teeth, Gingival fibromatosis ORPHA:2027
Fibromatosis, Gingival, With Distinctive Facies
High palate, Persistence of primary teeth, Everted lower lip vermilion, Gingival fibromatosis, Ir... OMIM:228560
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Multiple myeloma, Elevated circulating C-reactive p... ORPHA:158057
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Hepatomegaly, Median cleft palate, Recurrent respiratory infections ORPHA:2432
Chromosome Xq25 Duplication Syndrome
Thick vermilion border, Mandibular prognathia, Malar flattening, Tall stature OMIM:300979
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Tooth agenesis, Short philtrum, Delayed eruption of teeth, Mandibular prognathia, Anemia, Abnorma... ORPHA:2325
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Intellectual Developmental Disorder, Autosomal Recessive 46
Widely spaced teeth, Mandibular prognathia, Large for gestational age OMIM:616116
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Everted lower lip vermilion, Delayed eruption of teeth, Gingiva... ORPHA:2025
Pyle Disease
Delayed eruption of teeth, Carious teeth, Hypoplastic frontal sinuses, Mandibular prognathia, Abs... OMIM:265900
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Malar prominence, Micrognathia, Hepatic steatosis ORPHA:436182
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased hepatic glycogen content, Truncal obesity, Large for gestational age, Enlarged tonsils ORPHA:293964
Aredyld
Mandibular prognathia OMIM:207780
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Failure to thrive, Recurrent otitis media, Recurrent skin infections, Retrognathia, Recurrent upp... ORPHA:391372
Macrosomia With Microphthalmia, Lethal
Large for gestational age, Median cleft palate, Respiratory infections in early life OMIM:248110
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Splenomegaly, Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Mantle Cell Lymphoma
Weight loss, B-cell lymphoma, Lymphadenopathy, Splenomegaly ORPHA:52416
Mental Retardation Syndrome, Belgian Type
Mandibular prognathia, Eunuchoid habitus OMIM:249599
Immunodeficiency, Common Variable, 2
Neoplasm, Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenom... OMIM:240500
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Atopic dermatitis, Hypoplasia of the maxilla, Obesity, Crowded maxillary incisors, Mandibular pro... ORPHA:397973
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Gingival fibromatosis ORPHA:2026
Maxillofacial Dysostosis
Mandibular prognathia OMIM:155000
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Mental Retardation, Buenos Aires Type
High palate, Wide mouth, Dental malocclusion, Failure to thrive, Intrahepatic biliary atresia, Hy... OMIM:249630
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Hodgkin lymphoma, B-cell lymphoma, Splenom... OMIM:300853
Imagawa-Matsumoto Syndrome
Mandibular prognathia, Birth length greater than 97th percentile, Overgrowth, Tall stature OMIM:618786
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ... OMIM:610717
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Growth Hormone Insensitivity Syndrome
Failure to thrive, Hypoplasia of penis, Everted lower lip vermilion, Delayed eruption of teeth, T... ORPHA:181393
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Phenobarbital Embryopathy
Hypospadias, Unilateral cleft lip, Mandibular prognathia, Malar flattening ORPHA:1919
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Adrenocortical Carcinoma
Lung adenocarcinoma, Hypokalemia, Adrenocortical carcinoma, Increased body weight, Weight loss, A... ORPHA:1501
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Thick upper lip vermilion, Wide mouth, Mandibular prognathia, Thick lower lip vermilion OMIM:309545
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Elevated circulating C-reactive protein concentration, Absent isohemagglutinin leve... OMIM:615559
Immunodeficiency 48
Failure to thrive, Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Panhypogammaglobulinemia, P... OMIM:269840
Asbestos Intoxication
Interlobular septal thickening, Lung adenocarcinoma, Pleural thickening, Subpleural honeycombing,... ORPHA:2302
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
High palate, Dental crowding, Overjet, Decreased body weight, Hepatomegaly, Persistence of primar... OMIM:618342
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,... OMIM:616829
Familial Scaphocephaly Syndrome, Mcgillivray Type
High palate, Mandibular prognathia, Open bite ORPHA:168624
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... ORPHA:83451
Trismus-Pseudocamptodactyly Syndrome
Mandibular prognathia ORPHA:3377
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Increased urine succinate level, E... OMIM:619048
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Hepatic Veno-Occlusive Disease
Hepatomegaly, Elevated hepatic transaminase, Increased total bilirubin, Renal insufficiency, Incr... ORPHA:890
Congenital Generalized Lipodystrophy
Failure to thrive, Hepatomegaly, Macroglossia, Proportionate tall stature, Cirrhosis, Increased C... ORPHA:528
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Otitis media with effusion... ORPHA:2791
Mcdonough Syndrome
Dental malocclusion, Open bite, Micrognathia, Short philtrum, Cachexia, Abnormal palate morpholog... ORPHA:2471
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
High palate, Mandibular prognathia, Dental malocclusion, Pointed chin OMIM:618292
Wilson Disease
Failure to thrive, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Anemia, Thromboc... ORPHA:905
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Ele... OMIM:617156
Mmep Syndrome
Mandibular prognathia, Median cleft lip, Oral cleft ORPHA:3434
Xq25 Microduplication Syndrome
Thick vermilion border, Mandibular prognathia, Malar flattening ORPHA:521258
Perlman Syndrome
Abnormal pancreas morphology, Hepatomegaly, Hypoplasia of penis, High, narrow palate, Tall statur... ORPHA:2849
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Nodular Lymphocyte Predominant Hodgkin Lymphoma
B-cell lymphoma, Hepatomegaly, Breast carcinoma, Splenomegaly, Lymphoma, Weight loss, Lymphadenop... ORPHA:86893
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentration OMIM:616278
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Mandibular osteomyelitis, Osteomyelitis, Persistence... OMIM:259710
Adenocarcinoma Of The Esophagus
Obesity, Lymphadenopathy, Esophageal carcinoma, Barrett esophagus ORPHA:99976
Carcinoma Of Esophagus
Esophageal neoplasm, Barrett esophagus, Obesity, Weight loss, Lymphadenopathy ORPHA:70482
48,Xxyy Syndrome
Abnormal dental enamel morphology, Taurodontia, Hypoplasia of penis, Cleft palate, Open bite, Tal... ORPHA:10
Intellectual Developmental Disorder, X-Linked, Syndromic 14
High palate, Slender build, Tall stature, Hypoplasia of the maxilla, Mandibular prognathia OMIM:300676
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Neoplasm, Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Tooth malposition, Micropenis, Abnormality of dental morphology, Obesity ORPHA:85274
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Dental malocclusion, Increased circulating IgE level, Mandibular prognathia, Abnormality of the d... ORPHA:1858
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Refractory anemia with ringed sideroblasts, Splenomegaly, Thrombocytopenia, Anemia,... OMIM:133180
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hep... OMIM:278000
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Intellectual Developmental Disorder, Autosomal Recessive 48
Mandibular prognathia, Long philtrum OMIM:616269
Leukodystrophy, Hypomyelinating, 17
Thick vermilion border, Mandibular prognathia, Gingival overgrowth, Widely spaced teeth OMIM:618006
Sclerosteosis 2
Mandibular prognathia OMIM:614305
Laron Syndrome
Tooth agenesis, Hypoplasia of penis, Micrognathia, Osteoarthritis, Delayed eruption of teeth, Mic... ORPHA:633
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Aminoaciduria, Elevated circulating creatine kinase concentration, Elevated circula... OMIM:619386
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Failure to thrive, Elevated hepatic transaminase, Hydronephrosis, Hepat... OMIM:617093
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Argininosuccinic acidur... OMIM:603471
Immunodeficiency 102
Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... OMIM:301082
Otodental Dysplasia
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... OMIM:166750
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... OMIM:251880
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia, Mandibular prognathia OMIM:619971
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatomegaly, Cirrhosis, Osteoarthritis, Anemia, He... OMIM:606069
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Mandibular prognathia OMIM:619031
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Lymphoproliferat... OMIM:614470
Cog7-Cdg
Failure to thrive, Narrow mouth, Hepatomegaly, Small for gestational age, Retrognathia, Micrognat... ORPHA:79333
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Mandibular prognathia, Short philtrum, Decreased circulating antibody level, Cleft palate ORPHA:85317
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Lymphoproliferative Syndrome 2
Hodgkin lymphoma, Hepatomegaly, Hemophagocytosis, Splenomegaly, Lymphoproliferative disorder, Hep... OMIM:615122
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Alveolar pr... ORPHA:2972
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Folliculitis, Hemophagocytos... OMIM:300635
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Hepatomegaly, Malar flattening, Elevated circulating creatine kinase concentra... OMIM:614727
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Increased level of methylsuc... ORPHA:26792
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste... OMIM:612526
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase conc... OMIM:618805
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Torus palatinus, Craniofacial hyperostosis ORPHA:2790
Dentinogenesis Imperfecta
Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Grayish ena... ORPHA:49042
Intellectual Developmental Disorder, X-Linked 107
Mandibular prognathia, Thin upper lip vermilion, Obesity, Broad chin, Smooth philtrum OMIM:301013
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... OMIM:619824
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Wide mouth, Everted lower lip vermilion, Retrognathia, Long philtrum, Mandibular prognathia, Thin... OMIM:619595
Potocki-Lupski Syndrome
High palate, Wide mouth, Dental malocclusion, Failure to thrive, Small for gestational age, Micro... OMIM:610883
Spastic Paraplegia 50, Autosomal Recessive
High palate, Wide mouth, Short philtrum, Mandibular prognathia OMIM:612936
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Smith-Magenis Syndrome
Velopharyngeal insufficiency, Malar flattening, Abnormality of the dentition, Increased body weig... OMIM:182290
Ramon Syndrome
Failure to thrive, Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Abnormal dent... ORPHA:3019
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic transaminase, ... OMIM:232700
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Abnormality of the dentition, S... ORPHA:733
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... OMIM:607594
Cockayne Syndrome Type 2
Anodontia, Widely spaced primary teeth, Hepatomegaly, Hypoplasia of the primary teeth, Conjunctiv... ORPHA:90322
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopat... ORPHA:66661
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Wide mouth, Obesity, Mandibular prognathia ORPHA:411515
Familial Adenomatous Polyposis 1
Hepatoblastoma, Adrenocortical adenoma, Carious teeth, Odontoma, Small intestine carcinoid, Adren... OMIM:175100
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Craniofacial hyperostosis, Craniofacial osteosclerosis OMIM:122860
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Hyperbilirubinemia OMIM:614300
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Decreased body weight, Hypoplasia of the maxilla, Small for gestational age ORPHA:93950
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Reduced serum alpha-1-antitrypsin, Chronic bronchitis, Splenomegaly, Cirrhos... OMIM:613490
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Increased body mass index, Delayed eruption of teeth, Increased body weight, Anemia OMIM:614450
Dental Anomalies And Short Stature
Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla, Mandibular prognathia, ... OMIM:601216
Intellectual Developmental Disorder, Autosomal Recessive 74
Mandibular prognathia, Narrow palate OMIM:617169
Hodgkin Lymphoma
Neoplasm, Hepatomegaly, Splenomegaly, Lymphoma, Weight loss, Lymphadenopathy ORPHA:98293
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatomegaly, Hepatic failure, Pancytopenia, Hepatic steatosis OMIM:617872
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Cleft upper lip, Abnormality of the tongue, Malar flattening, Bilateral cleft lip and palate, Lar... OMIM:601165
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
High palate, Mandibular prognathia, Dental malocclusion OMIM:608931
Hypodontia-Dysplasia Of Nails Syndrome
Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Agenesis of permanent teet... ORPHA:2228
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Mandibular prognathia, Tall chin ORPHA:137831
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Hepatosple... OMIM:613101
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Malar flattening, Mandibular prognathia, Obesity, Abnormal dental enamel morphology ORPHA:2180
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Increased body ... ORPHA:264580
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Elevated transferrin saturation, Unconjugated hyper... ORPHA:766
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Elevated circulating C-reactive protein concentration, Hemophagocytosis, Hepatic fa... OMIM:308240
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... OMIM:615980
Hyperostosis Corticalis Generalisata
Mandibular prognathia ORPHA:3416
Gardner Syndrome
Hepatoblastoma, Adrenocortical adenoma, Abnormality of the dentition, Odontoma, Small intestine c... ORPHA:79665
Maxillonasal Dysplasia
Tooth agenesis, Cleft palate, Open bite, Microdontia, Hypoplasia of the maxilla, Mandibular progn... ORPHA:1248
Smith-Magenis Syndrome
Cleft upper lip, Taurodontia, Cleft palate, Micrognathia, Abnormality of the ureter, Short philtr... ORPHA:819
48,Xxxy Syndrome
Abnormal dental enamel morphology, Taurodontia, Hypoplasia of penis, Cleft palate, Open bite, Tal... ORPHA:96263
Raynaud-Claes Syndrome
Mandibular prognathia OMIM:300114
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Tooth agenesis, Microretrognathia, Cleft palate, Micrognathia, Truncal obesity, Cari... OMIM:618363
Galactosemia Iii
Failure to thrive, Hepatomegaly, Aminoaciduria, Splenomegaly, Hypergalactosemia, Galactosuria, Ja... OMIM:230350
Myofibrillar Myopathy 10
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Mandibular prog... OMIM:619040
Pettigrew Syndrome
Thick vermilion border, Wide mouth, Mandibular prognathia OMIM:304340
Immunodeficiency 64
Failure to thrive, B-cell lymphoma, Decreased circulating IgG level, Increased circulating IgA le... OMIM:618534
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
High palate, Cutaneous abscess, Decreased circulating IgA level, Persistence of primary teeth, Su... OMIM:619752
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Frank-Ter Haar Syndrome
Wide mouth, Gingival overgrowth, Premature loss of teeth, Short philtrum, Delayed eruption of tee... ORPHA:137834
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Cleft palate, Malar flattening, Short philtrum, Downturned corners of mouth, Mandibular prognathia ORPHA:94066
Macrocephaly-Developmental Delay Syndrome
High palate, Microretrognathia, Hepatosplenomegaly, Recurrent pneumonia, Mandibular prognathia ORPHA:397612
Steatocystoma Multiplex With Natal Teeth
Steatocystoma multiplex, Natal tooth OMIM:184510
Malan Syndrome
Gingival overgrowth, Narrow mouth, Everted lower lip vermilion, Retrognathia, Advanced eruption o... OMIM:614753
Acromegaloid Facial Appearance Syndrome
Thick vermilion border, Micrognathia, Large for gestational age, Deep philtrum OMIM:102150
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Lipoyltransferase 1 Deficiency
Increased total bilirubin OMIM:616299
Kleefstra Syndrome 1
U-Shaped upper lip vermilion, Persistence of primary teeth, Macroglossia, Micropenis, Everted low... OMIM:610253
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Wide mouth, Macroglossia, Micropenis, Hypospadias, Mandibular prognathia, Thic... OMIM:300354
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
High palate, Mandibular prognathia, Enamel hypoplasia, Malar flattening OMIM:600991
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Malar flattening, Retrognathia, Open mouth, Obesity, Enuresis, Failure to thrive in infancy OMIM:613670
Schaaf-Yang Syndrome
Micropenis, Retrognathia, Open mouth, Mandibular prognathia, Abnormality of the philtrum, Obesity... OMIM:615547
Tatton-Brown-Rahman Syndrome
Proportionate tall stature, Neuroendocrine neoplasm, Myeloid leukemia, Deep philtrum, Mandibular ... ORPHA:404443
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Splenomegaly, Lymphoma, Dysgammaglobulinemia, Anemia, Ascites, Lympha... ORPHA:100025
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Mandibular prognathia, Decreased circulating IgA level, Decreased circulating IgG level, Decrease... OMIM:300861
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Gingival overgrowth, Polyuria, Dagger-shaped pulp calcifica... OMIM:204690
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Mandibular prognathia, Pointed chin OMIM:248000
Temple Syndrome
High palate, Recurrent otitis media, Cleft palate, Small for gestational age, Micrognathia, Short... OMIM:616222
Beckwith-Wiedemann Syndrome
Wide mouth, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Cleft palate, Tall s... ORPHA:116
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Acute hep... ORPHA:209902
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Generalized aminoaci... ORPHA:882
Pituitary Gigantism
Pituitary growth hormone cell adenoma, Tall stature, Proportionate tall stature, Left ventricular... ORPHA:99725
Renpenning Syndrome
Narrow mouth, High, narrow palate, Cleft palate, Malar flattening, Hypospadias, Short philtrum, C... ORPHA:3242
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic fa... ORPHA:79303
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Porphyrinuria, Recurrent bacterial skin infections,... ORPHA:101330
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Hepatic steato... ORPHA:369840
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... ORPHA:247598
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Conjunctivitis, Hemophagocytosis, Spl... OMIM:603552
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, B-cell lymphoma, Hodgkin lymphoma, Hepatomegaly, El... OMIM:613011
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Malar flattening, Obesity, Mandibular prognathia OMIM:614613
Cockayne Syndrome Type 1
Widely spaced primary teeth, Anodontia, Failure to thrive, Hepatomegaly, Hypoplasia of the primar... ORPHA:90321
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
High palate, Cutaneous abscess, Eczematoid dermatitis, Persistence of primary teeth, Skin rash, E... OMIM:147060
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Failure to thrive, Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Hepatocellular ... ORPHA:370
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
High palate, Failure to thrive, Methioninuria, Pancreatitis, Tall stature, Disproportionate tall ... OMIM:236200
Dpm1-Cdg
U-Shaped upper lip vermilion, Failure to thrive, Hepatomegaly, High, narrow palate, Micrognathia,... ORPHA:79322
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia OMIM:601466
Autoimmune Hepatitis
Increased circulating antibody level, Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular ca... ORPHA:2137
Pfapa Syndrome
Hepatomegaly, Abnormal oral cavity morphology, Splenomegaly, Arthritis, Recurrent pharyngitis, In... ORPHA:42642
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, H... ORPHA:369
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, T... OMIM:614582
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... OMIM:616828
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Hepatocellular... ORPHA:247585
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Dental malocclusion, Neoplasm, Fragile teeth, Hypodontia, Micropenis, S... ORPHA:2959
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Hyperammonemia, Elevated hepatic transaminase, Decreased plasma ... OMIM:212140
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Abnormal abdomen morphology, Anodontia, Dental malocclusion, Narrow palate, Supernum... OMIM:264475
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Malar flattening, Micrognathia, Multiple exostoses, Nephroblastoma, Proteinuria, Dental crowding,... OMIM:612469
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Burn-Mckeown Syndrome
Cleft upper lip, Narrow mouth, Cleft palate, Unilateral renal agenesis, Micrognathia, Short philt... OMIM:608572
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedulla... OMIM:615285
Macrocephaly/Autism Syndrome
Lymphopenia, Hepatomegaly, Splenomegaly, Long philtrum, Decreased circulating antibody level, Obe... OMIM:605309
Bardet-Biedl Syndrome 16
Bronchiolitis, Renal cyst, Renal insufficiency, Recurrent otitis media, Obesity, Recurrent respir... OMIM:615993
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Narrow mouth, Hepatomegaly, Micrognathia, Elevated hepatic transaminase, Hypertriglyceridemia, De... OMIM:615381
Acromegaloid Changes, Cutis Verticis Gyrata, And Corneal Leukoma
Mandibular prognathia, Tall stature OMIM:102100
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Nephritis, Otitis media, Abnormality of the dentition, De... OMIM:203800
Immunodeficiency 33
Increased circulating IgA level, Hypodontia, Decreased circulating total IgM, Delayed eruption of... OMIM:300636
X-Linked Intellectual Disability Due To Gria3 Mutations
Slender build, Narrow palate, Macrodontia of permanent maxillary central incisor, Malar flattenin... ORPHA:364028
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Skin rash, Lymphoma, Arthritis, Increased circulating I... ORPHA:37748
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Dental malocclusion, Narrow mouth, Open bite, Abnormality of dental eruption, Downtu... ORPHA:1327
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... OMIM:209950
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... OMIM:204700
Proteus Syndrome
Lymphangioma, Lipoma, Splenomegaly, Hemangioma, Multiple lipomas, Open mouth, Mandibular hyperost... OMIM:176920
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase OMIM:264470
Felty Syndrome
Hepatomegaly, Bone marrow hypocellularity, Pericarditis, Rhinitis, Weight loss, Lymphadenopathy, ... ORPHA:47612
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Pancreatitis, Hepatomegaly ORPHA:79084
Microphthalmia, Syndromic 8
Cleft upper lip, Cleft palate, Oral cleft, Mandibular prognathia, Widely-spaced maxillary central... OMIM:601349
Immunodeficiency 69
Increased circulating ferritin concentration, Failure to thrive, Leukocytosis, Splenomegaly, Skin... OMIM:618963
9Q31.1Q31.3 Microdeletion Syndrome
Renovascular hypertension, Hypercholesterolemia, Mandibular prognathia, Overweight, Broad chin ORPHA:401923
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Splenomegaly, Advanced eruption of teeth, Hypertriglyceridemia, Hepat... ORPHA:2348
Kleefstra Syndrome
Hypoplasia of penis, Macroglossia, Micropenis, Everted lower lip vermilion, Hypospadias, Malar fl... ORPHA:261494
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Short philtrum, Decreased body weight, Hypoplasia of the maxilla ORPHA:93945
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of the epididymis, Abnormalit... ORPHA:93111
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia OMIM:256450
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pancreatitis, Hepatomegaly, Gout, Hepatocellular adenoma, Enlarged kidney, Carious teeth, Protein... ORPHA:79259
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephro... ORPHA:100024
Hemifacial Atrophy, Progressive
Dental malocclusion, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Hepatomegaly, Cleft palate, Macrovesicular hepatic steatosis, Cholestasis OMIM:614924
Pde4D Haploinsufficiency Syndrome
Malar flattening, Hypospadias, Short philtrum, Micrognathia, Long philtrum, Hypoplasia of the max... ORPHA:439822
Osteogenesis Imperfecta, Type Xii
High palate, Narrow mouth, Malar flattening, Micrognathia, Delayed eruption of teeth OMIM:613849
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Delayed eruption of teeth, Hypodontia ORPHA:63442
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating creatine k... ORPHA:42
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... OMIM:613313
Catifa Syndrome
Tooth malposition, Cleft palate, Long philtrum, Delayed eruption of teeth, Cleft lip, Increased o... OMIM:618761
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Cleft palate, Retrognathia, Micrognathia, Bifid uvula, Mandibular prognathia, Submucous cleft har... ORPHA:2521
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Failure to thrive, Hepatomega... OMIM:612714
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Cleft palate, Increased hepatic glycogen content, Micrognathia, Chronic hepatitis, ... OMIM:614921
Hemochromatosis Type 4
Increased circulating ferritin concentration, Cirrhosis, Hepatic steatosis, Congenital hepatic fi... ORPHA:139491
Immunodeficiency 84
B-cell lymphoma, Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Sotos Syndrome
High palate, Narrow palate, High, narrow palate, Tall stature, Otitis media, Increased body weigh... OMIM:117550
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Narrow mouth, Hypoplasia of penis, Splenomegaly, Thin vermilion border, Hypospadias, Abnormality ... ORPHA:1046
Multiple Symmetric Lipomatosis
Multiple lipomas, Hepatomegaly ORPHA:2398
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... OMIM:607616
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level... OMIM:300400
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Abnormality of the lymph... ORPHA:1414
Legius Syndrome
Nephrolithiasis, Ovarian neoplasm, Male urethral meatus stenosis, Acute monocytic leukemia, Desmo... ORPHA:137605
Infantile Liver Failure Syndrome 1
Failure to thrive, Hepatomegaly, Acute hepatic failure, Macrocytic anemia, Elevated hepatic trans... OMIM:615438
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Abnormal pulmonary interstitial morphology, Elevated hepatic transaminase, Hy... OMIM:619013
Odontotrichoungual-Digital-Palmar Syndrome
Thick vermilion border, Dental malocclusion, Mandibular prognathia, Natal tooth OMIM:601957
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Renal tubular acidosis, Hyperammonemia, Elevated circulating creatine kinase concen... OMIM:255120
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Ovarian neoplasm, Neoplasm of the central nervous system,... ORPHA:83469
Classic Mycosis Fungoides
Cutaneous T-cell lymphoma, Hepatomegaly, Skin rash, Splenomegaly, Eczema, Lymphoma, Abnormal lymp... ORPHA:2584
Luscan-Lumish Syndrome
Malar flattening, Overgrowth, Pointed chin, Recurrent otitis media, Mandibular prognathia, Obesity OMIM:616831
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, High palate, Failure to thrive, Decreased body weight, Micropenis, Micrognathia, ... OMIM:300534
Xp22.13P22.2 Duplication Syndrome
High palate, Mandibular prognathia, Recurrent upper respiratory tract infections, Truncal obesity ORPHA:284180
Sulfite Oxidase Deficiency, Isolated
Eczema, Elevated circulating creatine kinase concentration, Delayed eruption of teeth, Decreased ... OMIM:272300
Leishmaniasis
Increased circulating antibody level, Hepatomegaly, Abnormal oral cavity morphology, Rhinitis, Sp... ORPHA:507
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia OMIM:214950
Short Stature, Dauber-Argente Type
Short chin, Delayed eruption of teeth, Increased insulin like growth factor binding protein acid ... OMIM:619489
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed eruption of teeth, Amelogenesis imperfecta, Hypodontia OMIM:615905
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Malar flattening, Thin vermilion border, Elevated circulating creat... OMIM:232400
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Dermatomyositis
Lung adenocarcinoma, Neoplasm, Abnormal eosinophil morphology, Breast carcinoma, Gastrointestinal... ORPHA:221
Galloway-Mowat Syndrome 5
Nephrotic syndrome, Proteinuria, Mandibular prognathia, Stage 5 chronic kidney disease, Glomerula... OMIM:617731
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Wide mouth, U-Shaped upper lip vermilion, Cleft palate, Micropenis, Recurrent upper ... OMIM:300209
Immunodeficiency 52
Failure to thrive, Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-d... OMIM:617514
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia OMIM:232800
Central Precocious Puberty
Hypothalamic hamartoma, Overgrowth, Acne, Increased body weight, Obesity ORPHA:759
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Obesity, Delayed eruption of teeth OMIM:612463
Vulto-Van Silfhout-De Vries Syndrome
Mandibular prognathia, Tented upper lip vermilion, Thick lower lip vermilion OMIM:615828
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple... ORPHA:567983
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Osteomyelitis leading to amputation due to slow healing fractures, Microvesicu... OMIM:256810
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Tooth agenesis, Midshaft hypospadias, Micrognathia, Delayed eruption of teeth, Broad... ORPHA:2863
Congenital Disorder Of Glycosylation, Type Ik
Thin vermilion border, Micrognathia, Hepatomegaly, Splenomegaly OMIM:608540
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Acute hepatic failure, Hyperammonemia, Cholestasis, Elevated hepatic ... OMIM:618641
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Respiratory ... ORPHA:444463
Mucopolysaccharidosis, Type Ivb
Wide mouth, Hepatomegaly, Recurrent upper respiratory tract infections, Grayish enamel, Carious t... OMIM:253010
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Necrotizing enterocol... OMIM:201475
Gorlin Syndrome
Mandibular prognathia, Neoplasm, Carious teeth ORPHA:377
Achalasia-Microcephaly Syndrome
Micrognathia, Mandibular prognathia ORPHA:929
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Proteinuria, Pericarditis, Weight loss, Stage 5 chronic kidney disease, Chilblains,... OMIM:619487
Mucopolysaccharidosis, Type Iva
Chondroitin sulfate excretion in urine, Wide mouth, Hepatomegaly, Recurrent upper respiratory tra... OMIM:253000
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Hypodontia, Splenomegaly, Oligodontia, Cholestasis, Portal hypertension, Jaundice, ... ORPHA:59303
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
High palate, Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hep... OMIM:619418
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Protruding tongue, Open mouth, Mandibular prognathia, Smooth philtrum OMIM:618732
15Q Overgrowth Syndrome
High palate, Microretrognathia, High, narrow palate, Malar flattening, Disproportionate tall stat... ORPHA:314585
Acquired Partial Lipodystrophy
Lymphocytosis, Hepatic steatosis, Proteinuria, Microscopic hematuria ORPHA:79087
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Nephrolithiasis, Hypodontia, Hypoplasia of penis, Hypospadias, Delayed eruption of teeth ORPHA:1816
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Failure to thrive, Eczema, Long philtrum, Overgrowth, Mandibular prognathia OMIM:619721
Immunodeficiency 76
B-cell lymphoma, Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurr... OMIM:619164
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Galactose Epimerase Deficiency
Hepatomegaly, Aminoaciduria, Splenomegaly, Weight loss, Jaundice ORPHA:79238
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Hypospadias, Branchial cyst, Thin upper lip vermilion, Dental crowding, Mandibular prognathia, Pu... ORPHA:435938
Bloom Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Malar flattening, Small for ges... OMIM:210900
Mitochondrial Myopathy, Infantile, Transient
Failure to thrive, Hepatomegaly, Macroglossia, Increased serum pyruvate, Elevated circulating cre... OMIM:500009
49,Xxxyy Syndrome
Eunuchoid habitus, Micropenis, Micrognathia, Recurrent upper respiratory tract infections, Mandib... ORPHA:261534
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Primary Pigmented Nodular Adrenocortical Disease
Nephrolithiasis, Abdominal obesity, Pituitary adenoma, Hyperlipidemia, Fibroadenoma of the breast... ORPHA:189439
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
High palate, Small for gestational age, Advanced eruption of teeth, Long penis, Mandibular progna... OMIM:262190
Cleidocranial Dysplasia
Abnormal dental enamel morphology, Sinusitis, Supernumerary tooth, High, narrow palate, Cleft pal... ORPHA:1452
Mcdonough Syndrome
Dental malocclusion, Micrognathia, Short philtrum, Furrowed tongue, Mandibular prognathia OMIM:248950
Amelogenesis Imperfecta, Type Ij
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta OMIM:617297
Gaucher Disease, Type Ii
Failure to thrive, Hepatomegaly, Splenomegaly, Recurrent aspiration pneumonia, Anemia, Thrombocyt... OMIM:230900
Congenital Bile Acid Synthesis Defect Type 1
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hep... ORPHA:79301
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
High palate, Lipoma, Micrognathia, Long philtrum, Chronic otitis media, Pointed chin, Obesity, Th... ORPHA:480907
Intellectual Developmental Disorder, X-Linked 21
Dental crowding, Mandibular prognathia, Tented upper lip vermilion, Open mouth OMIM:300143
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Hemophagocytosis, Elevated circulating C-reactive protein concentrati... OMIM:619644
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Elevated circulating aspartate aminotransferase ... OMIM:300972
Classic Hodgkin Lymphoma
Neoplasm, Hepatomegaly, Skin rash, Splenomegaly, Lymphoma, Bone marrow hypocellularity, Weight lo... ORPHA:391
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
High palate, Failure to thrive, Short philtrum, Long philtrum, Tented upper lip vermilion, Mandib... OMIM:620001
Macrosomia Adiposa Congenita
Adrenocortical adenoma, Obesity, Eosinophilia, Large for gestational age OMIM:248100
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis, Hypoalbuminemia, Cardiomegaly ORPHA:88643
Mulibrey Nanism
Dental malocclusion, Hepatomegaly, Hypodontia, Nephroblastoma, Recurrent lower respiratory tract ... OMIM:253250
Dermoodontodysplasia
Mandibular prognathia, Tooth agenesis, Microdontia ORPHA:1660
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Wide mouth, Thin upper lip vermilion, Smooth philtrum, Mandibular prognathia OMIM:619989
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Eczema, Aplastic anemia, Delayed eruption of tee... ORPHA:811
Lipodystrophy, Congenital Generalized, Type 1
Nephrolithiasis, Hepatomegaly, Tall stature, Splenomegaly, Cirrhosis, Acute pancreatitis, Elevate... OMIM:608594
Proteus-Like Syndrome
Exostoses, Splenomegaly, Open bite, Hemangioma, Thymus hyperplasia, Subcutaneous lipoma, Mandibul... ORPHA:2969
Zechi-Ceide Syndrome
Cleft palate, Thin vermilion border, Short philtrum, Oligodontia, Downturned corners of mouth, Cl... ORPHA:217017
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Unilateral cleft lip, Mandibular prognathia, Abnormal zygomatic bone morphology, Malar flattening ORPHA:2511
Infantile Sialic Acid Storage Disease
High palate, Failure to thrive, Gingival overgrowth, Nephrotic syndrome, Hepatomegaly, Vacuolated... OMIM:269920
Fragile X Syndrome
Mandibular prognathia, Sinusitis, Chronic otitis media, Otitis media ORPHA:908
Congenital Disorder Of Glycosylation, Type Ie
Failure to thrive, Hepatomegaly, High, narrow palate, Splenomegaly, Hemangioma, Micrognathia, Ele... OMIM:608799
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Lymphocytic interstitial pneumonia, Hepatomegaly, Splenomegaly, Increased circ... OMIM:618495
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatic steatosis, Hepatic fibrosis ORPHA:280356
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Thyroiditis, Hodgkin lymphoma, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Auto... OMIM:619375
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ... ORPHA:1028
Immunodeficiency 32B
Sinusitis, Splenomegaly, Pneumonia, Bronchiectasis, Recurrent respiratory infections OMIM:226990
Caspase 8 Deficiency
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly... OMIM:607271
Immunodeficiency, Common Variable, 6
Hepatomegaly, Nephrotic range proteinuria, Macroscopic hematuria, Decreased specific pneumococcal... OMIM:613496
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Intellectual Developmental Disorder, Autosomal Recessive 61
High palate, Mandibular prognathia, Conical tooth OMIM:617773
Combined Immunodeficiency Due To Crac Channel Dysfunction
Neoplasm, Hepatomegaly, Splenomegaly, Chronic otitis media, Thrombocytopenia, Hemolytic anemia, P... ORPHA:169090
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Dental malocclusion, Malar flattening, Everted lower lip vermilion, Hypospadias, Thick vermilion ... OMIM:603463
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Rothmund-Thomson Syndrome
Abnormality of the dentition, Aplastic anemia, Delayed eruption of teeth, Microdontia, Carious te... ORPHA:2909
Lipodystrophy, Congenital Generalized, Type 2
Nephrolithiasis, Hepatomegaly, Tall stature, Splenomegaly, Cirrhosis, Elevated hemoglobin A1c, Ac... OMIM:269700
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating C-reactive prote... ORPHA:158061
Christianson Syndrome
Mandibular prognathia, Cachexia ORPHA:85278
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypospadias, Mandibular prognathia ORPHA:2252
Adrenomyodystrophy
Pituitary corticotropic cell adenoma, Hepatic steatosis OMIM:300270
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, 3-hydroxydicarboxylic aciduria, Acute hepatic fai... OMIM:613070
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Lymphoproliferative disorder, Pneumonia, Jaundice, Decreased proportion of naive T ... ORPHA:276
Coffin-Siris Syndrome 10
Wide mouth, Persistence of primary teeth OMIM:618506
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619658
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Abnormality of the peritoneum, Pleural effus... ORPHA:545
Prolidase Deficiency
High palate, Failure to thrive, Increased circulating antibody level, Hepatomegaly, Splenomegaly,... OMIM:170100
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphoproliferative disorder, B lymphocytopenia, Decreased specific antibody response to vaccinat... OMIM:614700
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Nephrolithiasis, Abdominal obesity, Pituitary adenoma, Hyperlipidemia, Neuroendocrine neoplasm, R... ORPHA:189427
Classic Multiminicore Myopathy
High palate, Failure to thrive, Microretrognathia, Right ventricular hypertrophy, Mandibular prog... ORPHA:324604
Leukocyte Adhesion Deficiency Type Ii
Keratitis, Premature loss of teeth, Gingival overgrowth, Narrow palate, Hepatomegaly, Long upper ... ORPHA:99843
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Chronic otitis media, Thro... ORPHA:3226
Mannosidosis, Alpha B, Lysosomal
Gingival overgrowth, Hepatomegaly, Vacuolated lymphocytes, Macroglossia, Splenomegaly, Malar flat... OMIM:248500
Gracile Syndrome
Increased circulating ferritin concentration, Decreased transferrin saturation, Cirrhosis, Choles... ORPHA:53693
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
High palate, Dental malocclusion, Cleft palate, Long philtrum, Failure to thrive in infancy, Uret... OMIM:618975
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Downturned corners of mouth, Mandibular prognathia, Short philtrum, Malar flattening OMIM:618672
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, High palate, Supernumerary tooth, Small for gestational age, Micrognathia, Agen... OMIM:268400
Momo Syndrome
High palate, Thick upper lip vermilion, Dental malocclusion, Taurodontia, Tall stature, Long phil... ORPHA:2563
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies
High, narrow palate, Everted lower lip vermilion, Short philtrum, Long philtrum, Thick vermilion ... OMIM:619880
3Q27.3 Microdeletion Syndrome
Narrow mouth, Disproportionate tall stature, Short philtrum, Dental crowding, Mandibular prognath... ORPHA:397695
Noonan Syndrome 5
Thick vermilion border, Wide mouth, Large for gestational age, Mandibular prognathia OMIM:611553
Angelman Syndrome Due To A Point Mutation
Wide mouth, Widely spaced teeth, Protruding tongue, Obesity, Mandibular prognathia ORPHA:411511
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Lymphopenia, Increased circulating IgA level, Eclabion, Carious teeth, Abdomin... OMIM:616395
Halothane Hepatitis
Viral hepatitis, Eosinophilia, Hepatitis, Obesity, Jaundice OMIM:234350
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Increased circulating copper concentration, Hepatic steatosis, Increased urinary coppe... ORPHA:209919
Immunodeficiency 16
Kaposi's sarcoma, Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
49,Xxxxy Syndrome
Abnormal dental enamel morphology, Taurodontia, Hypoplasia of penis, Cleft palate, Open bite, Del... ORPHA:96264
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
X-Linked Non-Syndromic Intellectual Disability
Small for gestational age, Urinary incontinence, Long philtrum, Delayed eruption of teeth, Obesit... ORPHA:777
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... OMIM:615234
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatic steatosis, Hepatomegaly ORPHA:363400
Familial Multiple Lipomatosis
Hyperlipidemia, Medulloblastoma, Premature eruption of permanent teeth, Odontogenic keratocysts o... ORPHA:199276
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Simpson-Golabi-Behmel Syndrome
Wide mouth, Hepatomegaly, Hepatoblastoma, Cleft palate, Tall stature, Mandibular prognathia, Poly... ORPHA:373
Angelman Syndrome
Wide mouth, Macroglossia, Widely spaced teeth, Protruding tongue, Hypoplasia of the maxilla, Mand... OMIM:105830
Gm1 Gangliosidosis
Failure to thrive, Narrow mouth, Gingival overgrowth, Macroglossia, Splenomegaly, Aspiration pneu... ORPHA:354
Bardet-Biedl Syndrome 21
Hypodontia, Abnormality of the dentition, Elevated hepatic transaminase, Horseshoe kidney, Obesit... OMIM:617406
Trichothiodystrophy 5, Nonphotosensitive
Wide mouth, Widely spaced primary teeth, Micropenis, Decreased circulating antibody level, Mandib... OMIM:300953
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Hepatomegaly, Elevated circulating C-reactive protein concentration, Increased... OMIM:617388
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Oral ulcer, Lymphadenopathy OMIM:618852
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Myoglobinuria, E... ORPHA:228305
Prognathism, Mandibular
Mandibular prognathia, Thick lower lip vermilion OMIM:176700
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Macrovesicular ... OMIM:600649
Zimmermann-Laband Syndrome 1
Nephrolithiasis, High palate, Wide mouth, Gingival overgrowth, Hepatomegaly, Splenomegaly, Short ... OMIM:135500
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Adenomatous colonic polyposis, High palate, Thick upper lip vermilion, Narrow mouth, Hepatoblasto... ORPHA:261584
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Hepatomegaly, Nephritis, Recurrent bronchopulmonary infections, Splenomegaly,... OMIM:617303
Hennekam Syndrome
Lymphangioma, Short philtrum, Delayed eruption of teeth, Horseshoe kidney, Tooth agenesis, Spleno... ORPHA:2136
Harel-Yoon Syndrome
Mandibular prognathia, Micrognathia OMIM:617183
Wilson Disease
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Gly... OMIM:277900
Chromosome 16P13.3 Deletion Syndrome, Proximal
High palate, Failure to thrive, Micrognathia, Facial hemangioma, Obesity, Polysplenia OMIM:610543
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia OMIM:235555
Cholestasis, Progressive Familial Intrahepatic, 2
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Conjugated hy... OMIM:601847
Arthrogryposis, Distal, Type 2A
High palate, Failure to thrive, Narrow mouth, Pursed lips, Malar flattening, Small for gestationa... OMIM:193700
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Absence of lymph node germinal center, Decreased circulating IgE, Decreased circula... OMIM:308230
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, High, narrow pala... ORPHA:228308
Interstitial Lung And Liver Disease
Failure to thrive, Hepatomegaly, Aminoaciduria, Hepatic failure, Hyperammonemia, Cirrhosis, Eleva... OMIM:615486
Nance-Horan Syndrome
Abnormality of the dentition, Supernumerary tooth, Mandibular prognathia ORPHA:627
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Hypodontia, Cleft palate, Thin vermilion border, Hypospadias, Long philtrum, Obes... ORPHA:254346
Peroxisome Biogenesis Disorder 13A (Zellweger)
Micrognathia, Hepatomegaly, Jaundice, Cholestasis OMIM:614887
Pycnodysostosis
High palate, Dental malocclusion, Obtuse angle of mandible, Persistence of primary teeth, Hypodon... ORPHA:763
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Cleft palate, Skin rash, Abnormality of the dentition, Eosinophilia, Eczema, Delay... ORPHA:2314
Sézary Syndrome
Cutaneous T-cell lymphoma, Hepatomegaly, Splenomegaly, Lymphoma, Abnormal pleura morphology, Abno... ORPHA:3162
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Thin vermilion border, Short philtrum, Bifid uvula, Deep philtrum, Bilateral cleft lip, Tented up... OMIM:618622
Acquired Generalized Lipodystrophy
Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Lymphoma, Acute pancreatitis, ... ORPHA:79086
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Wide mouth, Narrow mouth, Everted lower lip vermilion, Micrognathia, Long philtrum, Downturned co... OMIM:619720
Teebi Hypertelorism Syndrome 2
High palate, Cleft palate, Everted lower lip vermilion, Hypospadias, Microdontia, Delayed eruptio... OMIM:619736
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Obesity, Lo... OMIM:612462
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hepatomegaly, Skin rash, Splenomegaly, Nephropathy, Hematuria, Cholestasis, P... OMIM:105200
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum iron ORPHA:98870
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Small for gestational age, Micrognathia, Delayed eruption of teeth, Truncal ob... ORPHA:73272
Paganini-Miozzo Syndrome
Thin vermilion border, Mandibular prognathia, Downturned corners of mouth, Urinary incontinence OMIM:301025
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Micrognathia, Microdontia, Biliary tract abnormality, A... ORPHA:3191
Three M Syndrome 1
Malar flattening, Small for gestational age, Hypospadias, Long philtrum, Pointed chin, Mandibular... OMIM:273750
Hemochromatosis, Type 2A