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Gene: Sfmbt2 MGI:2447794

Gene Summary

Name:

Scm-like with four mbt domains 2

Synonyms:

D2Wsu23e, D330030P06Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal pharyngeal arch morphology	Sfmbt2^em1(IMPC)Mbp	HOM	E9.5	0.00
enlarged kidney	Sfmbt2^em1(IMPC)Mbp	HET	Early adult	0.00
embryonic growth retardation	Sfmbt2^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal heart morphology	Sfmbt2^em1(IMPC)Mbp	HOM	E9.5	0.00
enlarged lymph nodes	Sfmbt2^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal kidney morphology	Sfmbt2^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal neural tube morphology	Sfmbt2^em1(IMPC)Mbp	HOM	E9.5	0.00
edema	Sfmbt2^em1(IMPC)Mbp	HET	E15.5	0.00
preweaning lethality, complete penetrance	Sfmbt2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal liver morphology	Sfmbt2^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal embryo turning	Sfmbt2^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal lymph node morphology	Sfmbt2^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal neural tube closure	Sfmbt2^em1(IMPC)Mbp	HOM	E9.5	0.00
microphthalmia	Sfmbt2^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal neural tube morphology	Sfmbt2^em1(IMPC)Mbp	HET	E9.5	0.00
abnormal hindbrain development	Sfmbt2^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal heart morphology	Sfmbt2^em1(IMPC)Mbp	HET	E9.5	0.00
abnormal placenta size	Sfmbt2^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal placenta morphology	Sfmbt2^em1(IMPC)Mbp	HET	E15.5	0.00
increased freezing behavior	Sfmbt2^em1(IMPC)Mbp	HET	Early adult	6.15×10^-07
prenatal lethality prior to heart atrial septation	Sfmbt2^em1(IMPC)Mbp	HOM	E15.5	0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

45 Images

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Gross Morphology Embryo E9.5

Images

20 Images

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Gross Morphology Embryo E14.5-E15.5

Images

5 Images

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Histopathology

Images

7 Images

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MicroCT E9.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

19 Images

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Human diseases caused by Sfmbt2 mutations

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

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

Human diseases associated with Sfmbt2 (0 diseases)
Human diseases predicted to be associated with Sfmbt2 (740 diseases)

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

The table below shows human diseases predicted to be associated to Sfmbt2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Jaundice, Elevated circulating hepatic transaminase concentration, Cirrhosis, Tu...	OMIM:619902
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Gombo Syndrome	Delayed puberty, Microphthalmia, Abnormal heart morphology	OMIM:233270
Mantle Cell Lymphoma	Anorexia, Splenomegaly, Lymphadenopathy	ORPHA:52416
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,...	OMIM:615382
Reticuloendotheliosis, X-Linked	Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Splenomegaly	OMIM:615285
Nephronophthisis 3	Polydipsia, Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, ...	OMIM:604387
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ...	OMIM:613496
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Lambert Syndrome	Branchial anomaly, Ventricular septal defect	ORPHA:1296
Cerebrooculofacioskeletal Syndrome 3	Intrauterine growth retardation, Microphthalmia, Edema	OMIM:616570
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c...	OMIM:208540
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Adams-Oliver Syndrome 4	Atrial septal defect, Ventricular septal defect, Microphthalmia, Umbilical hernia	OMIM:615297
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr...	ORPHA:85445
Pandas	Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E...	ORPHA:66624
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati...	OMIM:615415
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619126
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Anorexia, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Holoprosencephaly, Anophthalmia	OMIM:611638
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:608971
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Kerion Celsi	Lymphadenopathy	ORPHA:499
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Renal Dysplasia	Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure...	ORPHA:93108
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst...	OMIM:602088
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis	OMIM:618852
Fryns Microphthalmia Syndrome	Microphthalmia, Neural tube defect, Anophthalmia	OMIM:600776
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Lymphadenopathy, Splenomegaly, Nephropathy	ORPHA:100024
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Mast Cell Sarcoma	Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:66661
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Xk Aprosencephaly Syndrome	Polyhydramnios, Atrial septal defect, Ventricular septal defect, Microphthalmia	ORPHA:3469
Congenital Varicella Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:291
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Renal cortical adenoma, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Pa...	ORPHA:97290
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Congenital Toxoplasmosis	Microphthalmia, Hydrocephalus, Ascites, Cardiomegaly, Intrauterine growth retardation	ORPHA:858
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele, Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Biemond Syndrome Type 2	Hydrocephalus, Microphthalmia, Delayed puberty, Short stature	ORPHA:141333
Meckel Syndrome, Type 4	Microphthalmia, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Intrauterine growth retar...	OMIM:611134
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Splenomegaly, Hepatitis, Lymphadenopathy	ORPHA:444463
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Autosomal Recessive Polycystic Kidney Disease	Polydipsia, Enlarged kidney, Cholestasis, Biliary hyperplasia, Splenomegaly, Abnormal intrahepati...	ORPHA:731
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Craniotelencephalic Dysplasia	Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Microcephaly-Microcornea Syndrome, Seemanova Type	Growth delay, Microphthalmia, Short stature	ORPHA:2528
X-Linked Mandibulofacial Dysostosis	Pulmonic stenosis, Branchial anomaly, Abnormal mitral valve morphology, Webbed neck	ORPHA:1131
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Recurrent urinary tract infections, E...	OMIM:615559
Nanophthalmos	Microphthalmia	ORPHA:35612
Kaposiform Lymphangiomatosis	Enlarged kidney, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnormal lympha...	ORPHA:464329
Branchiogenic-Deafness Syndrome	Branchial fistula, Branchial cyst	OMIM:609166
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Hydrocephalus, Occipital encephalocele, Microphthalmia	ORPHA:324416
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	OMIM:609054
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased...	OMIM:232220
Mmep Syndrome	Microphthalmia, Ventricular septal defect	ORPHA:3434
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Elevated circulating hepatic transaminase concentration, M...	OMIM:608836
Burkitt Lymphoma	Abnormality of the liver, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormalit...	ORPHA:543
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Cirrhosis, Elevated circulating hepa...	OMIM:276700
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Branchiootic Syndrome 3	Branchial cyst	OMIM:608389
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Focal segmental glomeruloscleros...	OMIM:617303
Hartsfield Syndrome	Intrauterine growth retardation, Lobar holoprosencephaly, Microphthalmia, Encephalocele	ORPHA:2117
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy, Dysphagia	ORPHA:50251
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Laryngeal Neuroendocrine Tumor	Anorexia, Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia	ORPHA:100083
Nanophthalmos 4	Microphthalmia	OMIM:615972
Alpha-Heavy Chain Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:100025
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Pancreatic fibrosis, Pol...	OMIM:200995
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Cholecystitis, Urinary bladder...	ORPHA:449395
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Microphthalmia, Ventricular septal defect, Anophthalmia	OMIM:615524
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior	ORPHA:208441
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Microphthalmia	OMIM:614830
Diaphanospondylodysostosis	Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidn...	OMIM:608022
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Hemophagocytic Lymphohistiocytosis, Familial, 4	Lymphadenopathy, Jaundice, Splenomegaly, Hepatomegaly	OMIM:603552
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Microphthalmia	OMIM:278780
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Intrauterine growth retardation, Microphthalmia, Short stature	OMIM:616171
Rhabdoid Tumor	Irritability, Renal neoplasm, Hematuria, Lymphadenopathy, Neoplasm of the liver	ORPHA:69077
Verheij Syndrome	Short neck, Truncus arteriosus, Ventricular septal defect, Branchial cyst	OMIM:615583
Familial Papillary Or Follicular Thyroid Carcinoma	Papillary renal cell carcinoma, Abnormal lymph node morphology, Chronic noninfectious lymphadenop...	ORPHA:319487
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Enlarged polycystic ovaries	ORPHA:90301
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased...	OMIM:232200
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Classic Hodgkin Lymphoma	Anorexia, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly	ORPHA:391
Kimura Disease	Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the kidney, Liver abscess, Elevated circulating hepatic transaminase concentration...	ORPHA:54251
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:79128
Meckel Syndrome, Type 2	Microphthalmia, Anencephaly, Encephalocele, Meningocele, Intrauterine growth retardation	OMIM:603194
Cofs Syndrome	Intrauterine growth retardation, Microphthalmia, Short stature	ORPHA:1466
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hematuria, Lymphadenopathy, Elevated circulating alanine aminotransferase concentra...	OMIM:614034
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem...	OMIM:614377
Senior-Boichis Syndrome	Polydipsia, Elevated circulating hepatic transaminase concentration, Tubular luminal dilatation, ...	ORPHA:84081
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Nephroblastoma	Nephroblastoma, Neoplasm of the liver, Hematuria, Lymphadenopathy	ORPHA:654
Branchiootic Syndrome 1	Branchial fistula	OMIM:602588
Cat-Eye Syndrome	Short stature, Microphthalmia, Intrauterine growth retardation	ORPHA:195
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Microphthalmia	OMIM:274270
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy	OMIM:615513
Microphthalmia, Isolated 5	Cystoid macular edema, Microphthalmia	OMIM:611040
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Lymphadenopathy	OMIM:619220
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Polyphagia, Macroscopic hematuria, Proteinuria, Membranoproliferative glomerulon...	ORPHA:251004
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
Immunodeficiency 27A	Anorexia, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymph node	OMIM:209950
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy	OMIM:618982
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Ventricular hypertrophy, Short stature, Tetralogy of Fallot, Atrial septal defect	OMIM:300887
Cold Agglutinin Disease	Splenomegaly, Abnormal urinary color, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Immunodeficiency 76	Splenomegaly, Lymphadenopathy	OMIM:619164
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Immunodeficiency, Common Variable, 2	Follicular hyperplasia, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:240500
2Q24 Microdeletion Syndrome	Growth delay, Microphthalmia	ORPHA:1617
Microphthalmia, Syndromic 13	Short stature, Microphthalmia	OMIM:300915
H Syndrome	Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Hepatosplenomegaly, Micropenis	ORPHA:168569
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Short stature, Microphthalmia	OMIM:610023
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Lymphadenopathy, Hepatomegaly, Splenomegaly, Glomerulonephritis	OMIM:619375
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Renal interstitial amyloid deposits, Hepatomegaly, Abnormal lymph node ...	ORPHA:85450
Fanconi Anemia, Complementation Group G	Growth delay, Microphthalmia	OMIM:614082
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus, Microphthalmia, Cardiomyopathy	OMIM:613155
Branchiogenic Deafness Syndrome	Branchial fistula, Branchial cyst	ORPHA:50815
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Splenomegaly, Hepatosplenomegaly	OMIM:612840
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent urinary tract infections, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:618495
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly	OMIM:300853
Congenital Rubella Syndrome	Microphthalmia, Aplasia/Hypoplasia of the iris, Short stature, Intrauterine growth retardation, A...	ORPHA:290
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Atrioventricular canal defect, Branchial anomaly, Increased nuchal translucency, Abnormal heart m...	ORPHA:453499
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst	ORPHA:435938
Classic Mycosis Fungoides	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:2584
17Q12 Microduplication Syndrome	Polyhydramnios, Atrial septal defect, Microphthalmia	ORPHA:261272
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Hydronephrosis, Urethral atresia	OMIM:314390
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, General...	OMIM:602450
Meckel Syndrome, Type 5	Occipital encephalocele, Microphthalmia, Anencephaly	OMIM:611561
Schnitzler Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:37748
Immunodeficiency 64 With Lymphoproliferation	Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Cervical lymphade...	OMIM:618534
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemolytic-uremic syndrome, Lymphadenopathy, Elevated circulating hepatic transamina...	OMIM:619644
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Hepatosplenomegaly, Lymphadenopathy	OMIM:613101
Lissencephaly 8	Occipital encephalocele, Microphthalmia	OMIM:617255
Lymphatic Malformation 7	Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch...	OMIM:617300
Niemann-Pick Disease, Type A	Irritability, Hepatomegaly, Lymphadenopathy, Elevated circulating alanine aminotransferase concen...	OMIM:257200
Activated Pi3K-Delta Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly, Recurrent tonsillitis	ORPHA:397596
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Microphthalmia, Ventricular septal defect	OMIM:602501
Frontonasal Dysplasia 1	Cranium bifidum occultum, Microphthalmia, Tetralogy of Fallot, Anterior basal encephalocele	OMIM:136760
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Splenic cyst	OMIM:618188
Leishmaniasis	Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy,...	ORPHA:507
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Rhizomelia, Hydrocephalus, Short stature, Intrauterine growth retardation	OMIM:300863
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Intrauterine growth retardation, Microphthalmia, Oligohydramnios, Encephalocele	ORPHA:228390
Holoprosencephaly	Encephalocele, Hydrocephalus, Branchial anomaly, Holoprosencephaly, Tetralogy of Fallot, Short ne...	ORPHA:2162
Craniorachischisis	Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida	ORPHA:63260
Indolent Systemic Mastocytosis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:98848
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Intrauterine growth retardation, Microphthalmia, Short stature	ORPHA:48431
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul...	ORPHA:3077
Pseudomyxoma Peritonei	Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney	ORPHA:276280
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Immunodeficiency 54	Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:609981
Hydrolethalus	Microphthalmia, Polyhydramnios, Anencephaly, Anophthalmia, Hydrocephalus	ORPHA:2189
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Caspase 8 Deficiency	Splenomegaly, Lymphadenopathy	OMIM:607271
Denys-Drash Syndrome	Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero...	OMIM:194080
Rosaï-Dorfman Disease	Lymphadenopathy	ORPHA:158014
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Nephrotic syndrome, Bone marrow hypocellularity, Hepatosplenomegaly, Proteinuria...	ORPHA:505248
Joubert Syndrome 22	Intrauterine growth retardation, Microphthalmia	OMIM:615665
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Enlarged kidney, Hepatocellular adenoma, Pancreatitis, Hepatomegaly, Increased hepatic glycogen c...	ORPHA:79259
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Ventricular septal defect	OMIM:618652
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol...	OMIM:130650
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center	OMIM:606843
Griscelli Syndrome Type 2	Splenomegaly, Jaundice, Lymphadenopathy, Hepatomegaly	ORPHA:79477
Oculogastrointestinal Neurodevelopmental Syndrome	Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Short stature	OMIM:619318
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Neoplasm of the pancreas, Abnormal pe...	ORPHA:83469
Alg9-Cdg	Irritability, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Abnormal renal artery morpholog...	ORPHA:79328
Immunodeficiency 7	Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:615387
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia, Hydrocephalus, Growth delay, Holoprosencephaly, Ventricular septal ...	ORPHA:77298
Ras-Associated Autoimmune Leukoproliferative Disorder	Follicular hyperplasia, Hepatomegaly, Splenomegaly	OMIM:614470
Bresek Syndrome	Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Growth delay, Intrauterine growth retardation	ORPHA:85284
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Ventricular septal defect, Rhizomelia	ORPHA:93267
Immunodeficiency, Common Variable, 1	Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:607594
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Short stature, Microphthalmia	OMIM:251270
Immunodeficiency 52	Lymphadenopathy, Splenomegaly	OMIM:617514
Immunodeficiency 109 With Lymphoproliferation	Generalized lymphadenopathy, Splenomegaly	OMIM:620282
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Situs inversus totalis, Microphthalmia, Optic nerve hypoplasia, Short stature, Mild short stature	OMIM:614833
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Splenomegaly	OMIM:611762
Pierpont Syndrome	Short stature, Microphthalmia	OMIM:602342
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Warburg Micro Syndrome 1	Short stature, Microphthalmia	OMIM:600118
Trisomy 13	Microphthalmia, Hydrops fetalis, Anophthalmia, Aplasia/Hypoplasia of the iris, Intrauterine growt...	ORPHA:3378
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Patent foramen ovale, Increased nuchal translucency, Abnormal heart morphology, A...	OMIM:618494
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus, Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Follicular hyperplasia, Lymphadenopathy	OMIM:619846
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Oligohydramnios, Hypertrophic cardiomyopathy	OMIM:619053
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Renal insuffic...	ORPHA:83313
Branchiootic Syndrome	Branchial fistula	ORPHA:52429
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Polyhydramnios	ORPHA:2547
Monosomy 18P	Short stature, Microphthalmia, Lymphedema, Holoprosencephaly	ORPHA:1598
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Lymphadenopathy, Chronic noninfectious lymphadenopathy, Nephrotic syndrome, Nephrit...	OMIM:603909
Legionnaires Disease	Anorexia, Jaundice, Hematuria, Lymphadenopathy, Pancreatitis, Hepatitis, Bone marrow hypocellular...	ORPHA:549
Lymphoproliferative Syndrome 2	Lymphadenopathy, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:615122
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Patent foramen ovale, Pulmonic stenosis, Lens coloboma, Umbilical hernia	OMIM:618914
Familial Pancreatic Carcinoma	Anorexia, Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Per...	ORPHA:1333
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia, Rhizomelia, Hydrocephalus, Short stature, Intrauterine growth retardation	ORPHA:163966
Gracile Bone Dysplasia	Microphthalmia, Aniridia, Hydrocephalus, Ascites, Short stature	OMIM:602361
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus, Microphthalmia	OMIM:601794
Primary Myelofibrosis	Anorexia, Hepatomegaly, Lymphadenopathy, Portal hypertension, Hepatosplenomegaly, Splenomegaly	ORPHA:824
Immunodeficiency 105	Absence of lymph node germinal center, Hepatosplenomegaly	OMIM:619924
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy, Dysphagia	ORPHA:1332
Heterotaxy, Visceral, 1, X-Linked	Abdominal situs inversus, Enlarged kidney, Hepatomegaly, Biliary atresia, Asplenia, Renal agenesi...	OMIM:306955
Bor Syndrome	Branchial cyst	ORPHA:107
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Branchiootorenal Syndrome 1	Branchial fistula, Branchial cyst	OMIM:113650
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Mucopolysacchariduria, Splenomegaly, Cardiomegaly	OMIM:252500
Subaortic Stenosis-Short Stature Syndrome	Short stature, Microphthalmia, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis	ORPHA:3191
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Facial edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites...	OMIM:265300
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short...	ORPHA:85194
Multiple Benign Circumferential Skin Creases On Limbs	Short stature, Microphthalmia, Edema, Umbilical hernia	ORPHA:2505
Pelvis-Shoulder Dysplasia	Short stature, Microphthalmia, Spina bifida occulta	OMIM:169550
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis	OMIM:613091
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Mosaic Trisomy 9	Microphthalmia, Hydrops fetalis, Polyhydramnios, Dextrocardia, Abnormal heart valve morphology, S...	ORPHA:99776
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Ventricular septal defect	OMIM:613730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Microphthalmia, Left ventricular hypertrophy	OMIM:613153
Isolated Posterior Meningocele	Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele, Limi...	ORPHA:268810
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He...	OMIM:618935
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Hepatomegaly, Abnormal pancreas morphology, Congenital meg...	ORPHA:116
Helsmoortel-Van Der Aa Syndrome	Irritability, Enlarged kidney, Hyperactivity, Recurrent urinary tract infections, Enuresis noctur...	OMIM:615873
Castleman Disease	Jaundice, Hematuria, Mediastinal lymphadenopathy, Lymphadenopathy, Ureteral obstruction, Generali...	ORPHA:160
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy	OMIM:618987
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center	OMIM:608184
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy	OMIM:212050
Cerebrooculofacioskeletal Syndrome 2	Intrauterine growth retardation, Microphthalmia, Growth delay	OMIM:610756
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus	OMIM:612651
Meacham Syndrome	Enlarged kidney, Horseshoe kidney, Accessory spleen	OMIM:608978
Developmental And Epileptic Encephalopathy 1	Growth delay, Microphthalmia	OMIM:308350
Combined Immunodeficiency Due To Zap70 Deficiency	Abnormal lymph node morphology, Lymphadenopathy, Lymphadenitis, Nephrotic syndrome, Hepatosplenom...	ORPHA:911
Sandestig-Stefanova Syndrome	Intrauterine growth retardation, Perimembranous ventricular septal defect, Muscular ventricular s...	OMIM:618804
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Lymphadenopathy	OMIM:150550
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Hepatitis	ORPHA:381
Joubert Syndrome 14	Microphthalmia, Encephalocele, Meningocele, Hydrocephalus, Growth delay, Ventricular septal defect	OMIM:614424
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Absent tonsils, Jaundice, Lymph node hypoplasia, Hepatomegaly	ORPHA:276
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Branchial anomaly, Increased nuchal translucency, Abnormal heart morphology, Cystic hygroma, Bicu...	ORPHA:453504
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Cardiomyopathy	ORPHA:370959
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Branchial anomaly, Increased nuchal translucency, Abnormal heart morphology, Cystic hygroma, Bicu...	ORPHA:352665
Rere-Related Neurodevelopmental Syndrome	Postnatal growth retardation, Microphthalmia, Abnormal heart morphology, Intrauterine growth reta...	ORPHA:494344
Roifman Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:616651
Adams-Oliver Syndrome 2	Hydrocephalus, Microphthalmia, Oligohydramnios	OMIM:614219
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Hepatic failure	OMIM:308240
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:3226
Fanconi Anemia, Complementation Group I	Microphthalmia, Optic nerve hypoplasia, Patent foramen ovale, Short stature, Intrauterine growth ...	OMIM:609053
Tularemia	Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy...	ORPHA:3392
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absent tonsils, Absence of lymph node germinal center	ORPHA:277
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Splenomegaly, Proteinuria, Renal insuff...	ORPHA:36412
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Gamma-Heavy Chain Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Dysphagia	ORPHA:100026
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Microphthalmia	OMIM:618805
Baraitser-Winter Syndrome 2	Short stature, Microphthalmia	OMIM:614583
Oligomeganephronia	Secundum atrial septal defect, Branchial cyst	ORPHA:2260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Atrial septal defect, Microphthalmia, Transposition of the great arteries, Encephalocele, Hydroce...	OMIM:253800
Sézary Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:3162
Vacterl With Hydrocephalus	Aqueductal stenosis, Microphthalmia, Polyhydramnios, Anophthalmia, Hydrocephalus, Spina bifida, I...	ORPHA:3412
Immunodeficiency 10	Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, Nephrotic syndrome, Splenomegaly	OMIM:612783
Ogden Syndrome	Irritability, Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Polycystic kidney dysp...	OMIM:300855
Diffuse Cutaneous Mastocytosis	Abnormality of the liver, Lymphadenopathy, Hepatomegaly, Abnormality of the spleen	ORPHA:79456
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Hepatomegaly, Splenomegaly, Follicular hyperplasia	OMIM:601859
Pseudotrisomy 13 Syndrome	Microphthalmia, Tricuspid atresia, Dextrocardia, Encephalocele, Hydrocephalus, Holoprosencephaly,...	OMIM:264480
Alg3-Cdg	Cardiomyopathy, Neural tube defect	ORPHA:79321
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:1438
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Patent foramen ovale, Short stature, Abnormal heart morphology, Umbilic...	ORPHA:369891
Distal 22Q11.2 Microduplication Syndrome	Tricuspid valve prolapse, Webbed neck, Hydrocephalus, Low posterior hairline, Ventricular septal ...	ORPHA:261337
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Gallbladder Neuroendocrine Tumor	Anorexia, Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy...	ORPHA:100086
Omenn Syndrome	Nephrotic syndrome, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:39041
Seckel Syndrome 2	Short stature, Microphthalmia, Growth delay	OMIM:606744
Tafro Syndrome	Hepatomegaly, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Renal insufficiency	ORPHA:457077
Immune Dysregulation, Autoimmunity, And Autoinflammation	Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Hepatitis, Nephrotic sy...	ORPHA:139402
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Scrub Typhus	Lymphadenopathy, Renal insufficiency, Splenomegaly	ORPHA:83317
Thyroid Lymphoma	Lymphadenopathy, Dysphagia	ORPHA:97285
Papa Syndrome	Lymphadenopathy, Proteinuria	ORPHA:69126
Purine Nucleoside Phosphorylase Deficiency	Elevated urinary inosine level, Recurrent urinary tract infections, Decreased urinary urate, Elev...	OMIM:613179
Adams-Oliver Syndrome	Microphthalmia, Encephalocele, Hydrocephalus, Ascites, Tetralogy of Fallot, Abnormal pulmonary va...	ORPHA:974
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Aggressive Systemic Mastocytosis	Decreased liver function, Anorexia, Lymphadenopathy, Portal hypertension, Hepatosplenomegaly, Hyp...	ORPHA:98850
Familial Hemophagocytic Lymphohistiocytosis	Decreased liver function, Cholestatic liver disease, Jaundice, Elevated circulating hepatic trans...	ORPHA:540
Cinca Syndrome	Hepatosplenomegaly, Lymphadenopathy	OMIM:607115
Cat Eye Syndrome	Microphthalmia, Tricuspid atresia, Total anomalous pulmonary venous return, Pulmonic stenosis, Sh...	OMIM:115470
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin...	ORPHA:97289
Distal 22Q11.2 Microdeletion Syndrome	Ventricular septal defect, Atrial septal defect, Truncus arteriosus, Branchial fistula	ORPHA:261330
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen	ORPHA:33276
Solitary Median Maxillary Central Incisor	Short stature, Microphthalmia, Holoprosencephaly, Anophthalmia	OMIM:147250
Fetal Alcohol Syndrome	Intrauterine growth retardation, Atrial septal defect, Microphthalmia, Short stature	ORPHA:1915
Lymphedema-Distichiasis Syndrome	Microphthalmia, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops f...	OMIM:153400
Macrophage Activation Syndrome	Decreased liver function, Hepatomegaly, Lymphadenopathy, Elevated circulating alanine aminotransf...	ORPHA:158061
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Vesicoure...	OMIM:615895
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Meckel Syndrome 14	Occipital encephalocele, Microphthalmia, Increased nuchal translucency, Holoprosencephaly, Oligoh...	OMIM:619879
Osteoporosis-Pseudoglioma Syndrome	Short stature, Microphthalmia	ORPHA:2788
Heart And Brain Malformation Syndrome	Growth delay, Polyhydramnios, Microphthalmia, Ventricular septal defect	OMIM:616920
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Splenomegal...	OMIM:308230
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Dehydration	OMIM:214150
Roifman Syndrome	Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Baraitser-Winter Syndrome 1	Postnatal growth retardation, Microphthalmia, Aortic valve stenosis, Short stature, Bicuspid aort...	OMIM:243310
American Trypanosomiasis	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:3386
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Cardiac-Urogenital Syndrome	Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Patent urachus, Hepatopulmonary fusio...	OMIM:618280
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract ob...	ORPHA:100085
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Ethmoidal encephalocele, Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Frontofacionasal Dysplasia	Short stature, Microphthalmia, Encephalocele	ORPHA:1791
Adult-Onset Still Disease	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Bone marr...	ORPHA:829
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Intrauterine growth retardation, Atrial septal defect, Microphthalmia, Postnatal growth retardation	ORPHA:2728
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Branchial anomaly	ORPHA:466950
Porphyria Due To Ala Dehydratase Deficiency	Agitation, Abnormal fear-induced behavior, Increased urinary porphobilinogen, Purple urine, Depre...	ORPHA:100924
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Lymphedema	OMIM:152950
Microcephaly 20, Primary, Autosomal Recessive	Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia, Short stature	OMIM:617914
Fanconi Anemia, Complementation Group R	Hydrocephalus, Microphthalmia, Growth delay	OMIM:617244
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Intrauterine growth retardation, Microphthalmia, Abnormal cardiac septum morphology	ORPHA:1352
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Polyhydramnios, Encephalocele, Hydrocephalus, Holoprosencephaly, Umbilical hernia...	ORPHA:2166
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:616100
Hemophagocytic Lymphohistiocytosis, Familial, 2	Irritability, Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy,...	OMIM:603553
Neuroendocrine Tumor Of The Colon	Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfec...	ORPHA:100080
Trisomy 18	Microphthalmia, Anencephaly, Spina bifida, Short stature, Growth delay, Holoprosencephaly, Intrau...	ORPHA:3380
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Hemophagocytic Lymphohistiocytosis, Familial, 1	Irritability, Jaundice, Hepatomegaly, Lymphadenopathy, Splenomegaly	OMIM:267700
Lymphatic Filariasis	Abnormality of the kidney, Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Ab...	ORPHA:2035
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Bifid ureter, Nephroblastoma, Renal malrotation, Multicystic kidney dysplasia	ORPHA:500095
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Familial Exudative Vitreoretinopathy	Microphthalmia, Macular edema, Lymphedema	ORPHA:891
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Hydrocephalus, Hypoplasia of the iris, Atrial septal defect, Ventricular septal d...	OMIM:613001
Anaplastic Thyroid Carcinoma	Lymphadenopathy, Dysphagia	ORPHA:142
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:301078
Cerebrooculofacioskeletal Syndrome 4	Intrauterine growth retardation, Bilateral microphthalmos, Abnormal heart morphology, Short stature	OMIM:610758
Leprechaunism	Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged ovaries	ORPHA:508
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Microphthalmia, Abnormally large globe	OMIM:615249
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Enlarged kidney	OMIM:261740
Microcephaly-Micromelia Syndrome	Intrauterine growth retardation, Aqueductal stenosis, Microphthalmia, Oligohydramnios	OMIM:251230
Q Fever	Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy,...	ORPHA:781
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy, Peritonitis	ORPHA:343
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Marden-Walker Syndrome	Intrauterine growth retardation, Microphthalmia, Postnatal growth retardation, Dextrocardia	OMIM:248700
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Felty Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, Bone marrow hypocellularity, S...	ORPHA:47612
Lymphoproliferative Syndrome 1	Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:613011
Acute Monoblastic/Monocytic Leukemia	Oliguria, Cervical lymphadenopathy, Anorexia	ORPHA:514
Omenn Syndrome	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus, Lymphadenopathy	OMIM:603554
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Lymphadenopathy, Accessory spleen, Microvesic...	OMIM:619418
Lig4 Syndrome	Hepatomegaly, Lymphadenopathy, Hypoplasia of penis	ORPHA:99812
Graft Versus Host Disease	Irritability, Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy,...	ORPHA:39812
Frontonasal Dysplasia 2	Intrauterine growth retardation, Microphthalmia, Oligohydramnios, Encephalocele	OMIM:613451
Combined Immunodeficiency Due To Crac Channel Dysfunction	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:169090
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Lymphadenopathy, Glomerulonephritis	OMIM:304790
Joubert Syndrome 37	Short stature, Microphthalmia	OMIM:619185
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect, Microphthalmia	OMIM:614526
Rodrigues Blindness	Short stature, Microphthalmia	OMIM:268320
Cinca Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:1451
Fanconi Anemia, Complementation Group F	Microphthalmia, Polyhydramnios, Short stature, Intrauterine growth retardation, Atrial septal defect	OMIM:603467
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chronic hepatic ...	ORPHA:79124
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Trichothiodystrophy 3, Photosensitive	Intrauterine growth retardation, Microphthalmia, Short stature	OMIM:616395
Chromosome 1Q41-Q42 Deletion Syndrome	Short stature, Microphthalmia, Ventricular septal defect, Holoprosencephaly	OMIM:612530
Pediatric Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Abnormality of the urinary system, Nephrotic syndrome, Nephritis, Dar...	ORPHA:93552
Cyclic Neutropenia	Peritonitis, Cervical lymphadenopathy, Lymphadenopathy, Recurrent tonsillitis	ORPHA:2686
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Abnormal heart morphology, Ventricular septal defect	ORPHA:404440
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Aregenerative Anemia	Depression, Bone marrow hypocellularity, Emotional lability, Lymphadenopathy	ORPHA:101096
Frontorhiny	Cranium bifidum occultum, Microphthalmia, Basal encephalocele, Encephalocele	ORPHA:391474
Microphthalmia, Syndromic 9	Bilateral microphthalmos, Anophthalmia, Hypoplastic left atrium, Truncus arteriosus, Pulmonic ste...	OMIM:601186
Ritscher-Schinzel Syndrome 3	Postnatal growth retardation, Microphthalmia, Atrioventricular canal defect	OMIM:619135
Treacher-Collins Syndrome	Branchial fistula, Encephalocele	ORPHA:861
Stevenson-Carey Syndrome	Atrial septal defect, Microphthalmia	OMIM:611961
Immunodeficiency 97 With Autoinflammation	Mediastinal lymphadenopathy, Lymphadenopathy, Recurrent urinary tract infections, Hepatosplenomeg...	OMIM:619802
Acute Generalized Exanthematous Pustulosis	Cholestasis, Elevated circulating hepatic transaminase concentration, Renal insufficiency, Lympha...	ORPHA:293173
Kapur-Toriello Syndrome	Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect, Microphthalmia	OMIM:244300
Mixed Connective Tissue Disease	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Nephropathy	ORPHA:809
Acute Promyelocytic Leukemia	Anorexia, Addictive alcohol use, Hematuria, Lymphadenopathy	ORPHA:520
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Matthew-Wood Syndrome	Intrauterine growth retardation, Microphthalmia, Anophthalmia	ORPHA:2470
Microphthalmia, Syndromic 5	Short stature, Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610125
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Hydronephrosis, Splenomegaly, Right ventr...	OMIM:312870
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia, Anencephaly, Encephalocele, Pulmonic stenosis, Short stature, Left ventricular hy...	OMIM:619148
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp...	ORPHA:2334
8Q24.3 Microdeletion Syndrome	Atrioventricular canal defect, Spina bifida occulta, Truncus arteriosus, Dysplastic aortic valve,...	ORPHA:508488
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Polyhydramnios, Ascites, Increased nuchal translucency, Short stature, Growth del...	ORPHA:1052
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Hydranencephaly, Hydrocephalus, Neonatal short-trunk short stature, Mes...	ORPHA:2839
Garg-Mishra Progeroid Syndrome	Short stature, Microphthalmia, Postnatal growth retardation	OMIM:620601
Galloway-Mowat Syndrome 3	Microphthalmia, Short stature, Intrauterine growth retardation, Oligohydramnios, Edema	OMIM:617729
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Microphthalmia, Polyhydramnios, Septo-optic dysplasia	ORPHA:3301
Neuroendocrine Tumor Of The Rectum	Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfec...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfec...	ORPHA:100082
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Mevalonic Aciduria	Fluctuating splenomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopath...	OMIM:610377
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenopathy, Lymphadenitis, Splenomegaly	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenopathy, Lymphadenitis, Splenomegaly	OMIM:233710
Fanconi Anemia, Complementation Group S	Short stature, Microphthalmia	OMIM:617883
Carcinoid Syndrome	Hepatic necrosis, Elevated circulating hepatic transaminase concentration, Chronic noninfectious ...	ORPHA:100093
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Depression, Nephrotic syndrome, Nephrocalcinosis, Acute hepatic fa...	ORPHA:342
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Short stature, Microphthalmia, Abnormal heart morphology	OMIM:618571
Oculopalatocerebral Syndrome	Short stature, Microphthalmia	OMIM:257910
Waldenström Macroglobulinemia	Anorexia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Renal insufficiency	ORPHA:33226
Kapur-Toriello Syndrome	Microphthalmia, Ventricular septal defect, Tetralogy of Fallot	ORPHA:2328
Trichothiodystrophy 4, Nonphotosensitive	Growth delay, Microphthalmia, Ventricular septal defect	OMIM:234050
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Cardiac Valvular Dysplasia 1	Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri...	OMIM:212093
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenopathy, Lymphadenitis, Splenomegaly	OMIM:233690
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Patent foramen ovale, Natal tooth, Right ventricular hypertrophy, Atrial septal defect, Branchial...	OMIM:620186
Chondrodysplasia Punctata 2, X-Linked Dominant	Postnatal growth retardation, Microphthalmia, Polyhydramnios, Rhizomelia, Edema	OMIM:302960
3P25.3 Microdeletion Syndrome	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Microphthalmia	ORPHA:435638
Proteus Syndrome	Enlarged kidney, Long penis, Neoplasm of the thymus, Renal cyst, Enlarged polycystic ovaries, Lym...	ORPHA:744
Congenital Fibrinogen Deficiency	Microphthalmia, Right ventricular hypertrophy, Left ventricular hypertrophy	ORPHA:335
Bronchial Neuroendocrine Tumor	Anorexia, Hepatomegaly, Chronic noninfectious lymphadenopathy, Hepatic failure	ORPHA:97287
Warburg Micro Syndrome 4	Short stature, Microphthalmia, Severe postnatal growth retardation	OMIM:615663
1Q21.1 Microdeletion Syndrome	Microphthalmia, Hydrocephalus, Short stature, Intrauterine growth retardation, Abnormal cardiac s...	ORPHA:250989
Neuroblastoma	Irritability, Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Lymph...	ORPHA:635
Microphthalmia With Limb Anomalies	Growth delay, Microphthalmia, Postnatal growth retardation, Anophthalmia	OMIM:206920
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:617591
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:436159
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Iniencephaly	Anencephaly, Encephalocele, Hydrocephalus, Myelomeningocele, Spina bifida, Cystic hygroma, Holopr...	ORPHA:63259
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Neu-Laxova Syndrome 1	Short umbilical cord, Microphthalmia, Transposition of the great arteries, Small placenta, Polyhy...	OMIM:256520
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy	OMIM:618048
Meckel Syndrome	Situs inversus totalis, Microphthalmia, Anencephaly, Encephalocele, Anophthalmia, Hydrocephalus, ...	ORPHA:564
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation	OMIM:241410
Micro Syndrome	Delayed puberty, Microphthalmia, Intrauterine growth retardation, Short stature	ORPHA:2510
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Hyper-Igd Syndrome	Lymphadenopathy, Lymphadenitis, Hepatosplenomegaly, Splenomegaly, Elevated urine mevalonic acid l...	OMIM:260920
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Oculofaciocardiodental Syndrome	Microphthalmia, Mitral valve prolapse, Abnormal cardiac septum morphology	ORPHA:2712
Microphthalmia/Coloboma 12	Growth delay, Microphthalmia, Optic nerve aplasia	OMIM:120200
Temtamy Syndrome	Microphthalmia	OMIM:218340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Hydrocephalus, Buphthalmos, Microphthalmia, Encephalocele	OMIM:613150
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Hepatosplenomegaly, Lymphadenopathy	ORPHA:169154
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Hydrops fetalis, Microphthalmia, Ventricular septal defect	ORPHA:268249
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection	ORPHA:98813
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Refsum Disease	Microphthalmia, Cardiomyopathy	ORPHA:773
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Moebius Syndrome	Microphthalmia	OMIM:157900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Buphthalmos, Microphthalmia	OMIM:616538
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Short stature, Microphthalmia	OMIM:617306
Multiple Myeloma	Acute kidney injury, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Splenomegal...	ORPHA:29073
Cohen Syndrome	Delayed puberty, Microphthalmia, Short stature, Mitral valve prolapse, Intrauterine growth retard...	ORPHA:193
Nasopalpebral Lipoma-Coloboma Syndrome	Severe postnatal growth retardation, Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Hepatocellular carcinoma, Lymph node hypoplasia, Enteroviral ...	OMIM:300755
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Jacobsen Syndrome	Microphthalmia, Hydrocephalus, Holoprosencephaly, Intrauterine growth retardation, Atrial septal ...	OMIM:147791
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Lymphadenopathy, Retroperitoneal fibrosis, Pancreatic hypoplasia, Hepatosplenomegal...	OMIM:602782
Kikuchi-Fujimoto Disease	Anorexia, Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Elevated circulating hep...	ORPHA:50918
Focal Dermal Hypoplasia	Microphthalmia, Spina bifida, Hypoplasia of the iris, Umbilical hernia, Ventricular septal defect...	ORPHA:2092
Sacral Defect With Anterior Meningocele	Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele	OMIM:600145
Farber Disease	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Intrahepatic cholestasi...	ORPHA:333
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Curry-Jones Syndrome	Microphthalmia, Occipital meningocele, Lipomyelomeningocele	OMIM:601707
Adams-Oliver Syndrome 1	Microphthalmia, Encephalocele, Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot, Bic...	OMIM:100300
Walker-Warburg Syndrome	Hydrocephalus, Microphthalmia, Anophthalmia	ORPHA:899
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia	OMIM:301108
Warburg Micro Syndrome 3	Postnatal growth retardation, Microphthalmia	OMIM:614222
Fanconi Anemia	Microphthalmia, Abnormal aortic valve morphology, Hydrocephalus, Aplasia/Hypoplasia of the iris, ...	ORPHA:84
Fanconi Anemia, Complementation Group N	Postnatal growth retardation, Atrial septal defect, Ventricular septal defect, Microphthalmia	OMIM:610832
Common Variable Immunodeficiency	Abnormality of the liver, Lymphadenopathy, Elevated circulating hepatic transaminase concentratio...	ORPHA:1572
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Ventricular septal defect, Microphthalmia	OMIM:616449
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Enlarged tonsils, Hepatosplenomegaly, Lymphadenopathy	OMIM:606367
Lymphangioleiomyomatosis	Renal neoplasm, Hematuria, Lymphadenopathy, Abnormality of the lymphatic system, Multiple renal c...	ORPHA:538
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Hydrocephalus, Optic nerve hypoplasia, Microphthalmia, Encephalocele	OMIM:614643
Martsolf Syndrome 1	Short stature, Microphthalmia, Cardiomyopathy	OMIM:212720
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia, Spina bifida occulta, Atrial septal defect, Ventricular se...	OMIM:607323
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Hydrocephalus, Histiocytoid cardiomyopathy, Short stature, Overriding aorta, Atri...	OMIM:309801
Ileal Neuroendocrine Tumor	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Hydronephrosis, Extrahe...	ORPHA:100078
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Agitation, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy...	OMIM:615688
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Perimembranous ventricular septal defect, Atrioventricular canal defect, Microphthalmia, Optic ne...	ORPHA:508498
Joubert Syndrome 2	Hydrocephalus, Microphthalmia, Encephalocele	OMIM:608091
3Q29 Microduplication Syndrome	Microphthalmia, Ventricular septal defect, Aniridia	ORPHA:251038
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Cholestasis, Hilar lymph node enlargement, Hepatomegaly, Mediastinal lymphadenopathy	OMIM:620233
Immunodeficiency, Common Variable, 8, With Autoimmunity	Lymphadenopathy, Generalized lymphadenopathy, Splenomegaly	OMIM:614700
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Mosaic Trisomy 1	Polyhydramnios, Microphthalmia, Ventricular septal defect, Increased nuchal translucency	ORPHA:1692
Fryns Syndrome	Microphthalmia, Polyhydramnios, Tetralogy of Fallot, Abnormal cardiac septum morphology	ORPHA:2059
Basal Cell Nevus Syndrome 1	Microphthalmia, Cardiac rhabdomyoma, Hydrocephalus, Spina bifida, Cardiac fibroma	OMIM:109400
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia, Chylothorax, Lymphedema, Pleural effusion, Severe short stature, Ed...	ORPHA:2526
Ectodermal Dysplasia-Blindness Syndrome	Short stature, Microphthalmia	ORPHA:1806
Galloway-Mowat Syndrome 1	Microphthalmia, Hypoplasia of the iris, Short stature, Intrauterine growth retardation, Oligohydr...	OMIM:251300
X-Linked Dominant Chondrodysplasia Punctata	Short stature, Microphthalmia, Severe postnatal growth retardation	ORPHA:35173
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Patent foramen ovale, Growth delay, Holoprosencephaly, Umbilical hernia, Ventricu...	OMIM:613884
Cousin Syndrome	Microphthalmia, Rhizomelia, Hydranencephaly, Hydrocephalus, Disproportionate short stature	OMIM:260660
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Hepatosplenomegaly, Lymphadenitis	OMIM:618986
Neuroendocrine Tumor Of Stomach	Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfec...	ORPHA:100075
Monosomy 9Q22.3	Hydrocephalus, Microphthalmia, Cardiac fibroma, Umbilical hernia	ORPHA:77301
Pituitary Adenoma 4, Acth-Secreting	Emotional lability, Abnormal fear-induced behavior, Nephrolithiasis	OMIM:219090
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Microphthalmia, Syndromic 3	Postnatal growth retardation, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Short stature...	OMIM:206900
Poems Syndrome	Lymphadenopathy, Hepatomegaly, Visceromegaly, Splenomegaly	ORPHA:2905
Papillorenal Syndrome	Short stature, Microphthalmia, Edema	OMIM:120330
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Meningoencephaloc...	OMIM:236670
Meckel Syndrome, Type 1	Occipital encephalocele, Large placenta, Microphthalmia, Anencephaly, Hydrocephalus, Intrauterine...	OMIM:249000
Histiocytoid Cardiomyopathy	Pulmonary edema, Microphthalmia, Hydrocephalus, Congenital aphakia, Cardiomegaly, Ventricular sep...	ORPHA:137675
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior	ORPHA:309246
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenopathy, Lymphadenitis, Splenomegaly	OMIM:306400
22Q11.2 Deletion Syndrome	Microphthalmia, Tricuspid atresia, Abnormal aortic valve morphology, Polyhydramnios, Meningocele,...	ORPHA:567
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Intrauterine growth retardation, Microphthalmia, Oligohydramnios	ORPHA:364577
Chediak-Higashi Syndrome	Lymphadenopathy, Jaundice, Splenomegaly, Hepatomegaly	OMIM:214500
Steinfeld Syndrome	Microphthalmia, Abnormal heart morphology, Holoprosencephaly	OMIM:184705
Igg4-Related Submandibular Gland Disease	Abnormality of the kidney, Cholangitis, Lymphadenopathy, Renal insufficiency, Abnormal pancreas m...	ORPHA:449432
Holoprosencephaly 7	Semilobar holoprosencephaly, Microphthalmia, Bilateral microphthalmos, Alobar holoprosencephaly, ...	OMIM:610828
Pierson Syndrome	Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Rieger anomaly, Edema, Ol...	OMIM:609049
Malakoplakia	Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Follicular hyperplasia, Urin...	ORPHA:556
Fanconi Anemia, Complementation Group E	Short stature, Microphthalmia, Abnormal heart morphology	OMIM:600901
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Hepatitis, Nephrotic sy...	ORPHA:37042
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Warburg Micro Syndrome 2	Postnatal growth retardation, Microphthalmia	OMIM:614225
Hydrolethalus Syndrome 1	Microphthalmia, Polyhydramnios, Anencephaly, Severe hydrocephalus, Intrauterine growth retardatio...	OMIM:236680
Carney Triad	Anorexia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:139411
Fanconi Anemia, Complementation Group C	Intrauterine growth retardation, Microphthalmia, Ventricular septal defect, Short stature	OMIM:227645
Congenital Syphilis	Pancreatitis, Lymphadenopathy, Nephrotic syndrome, Prolonged neonatal jaundice, Hepatosplenomegaly	ORPHA:499009
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Dilated cardiomyopathy, Microphthalmia	OMIM:300952
Oculoauricular Syndrome	Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular hypoplasia	OMIM:612109
Oculo-Palato-Cerebral Syndrome	Intrauterine growth retardation, Microphthalmia, Short stature	ORPHA:2714
Charge Syndrome	Postnatal growth retardation, Aqueductal stenosis, Delayed puberty, Abnormal aortic valve morphol...	ORPHA:138
Fanconi Anemia, Complementation Group A	Short stature, Microphthalmia, Abnormal heart morphology	OMIM:227650
Hennekam Syndrome	Ectopic kidney, Lymphadenopathy, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia, Horsesho...	ORPHA:2136
Pallister-Hall Syndrome	Microphthalmia, Short stature, Growth delay, Holoprosencephaly, Intrauterine growth retardation, ...	OMIM:146510
Brucellosis	Anorexia, Liver abscess, Hepatomegaly, Lymphadenopathy, Depression, Intrarenal abscess, Splenomeg...	ORPHA:1304
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Short stature, Unilateral microphthalmos, Mitral valve prolapse	OMIM:618874
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Atypical or prolonged hepatitis, Lymphadenopathy, Aplasia of ...	ORPHA:83471
Coccidioidomycosis	Abnormality of the kidney, Pancreatitis, Lymphadenopathy, Mediastinal lymphadenopathy, Abnormalit...	ORPHA:228123
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Acute Interstitial Pneumonia	Lymphadenopathy	ORPHA:79126
Mend Syndrome	Microphthalmia, Hydrocephalus, Aortic valve stenosis, Short stature, Abnormal heart morphology	ORPHA:401973
Incontinentia Pigmenti	Short stature, Microphthalmia, Spina bifida occulta, Umbilical hernia	ORPHA:464
Microphthalmia, Syndromic 2	Microphthalmia, Dextrocardia, Anophthalmia, Pulmonic stenosis, Aortic valve stenosis, Short statu...	OMIM:300166
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Lymphadenopathy, Hepatocellular carcinoma, Chronic noninfectious lymphadenopathy, H...	ORPHA:3261
2Q31.1 Microdeletion Syndrome	Short stature, Atrial septal defect, Ventricular septal defect, Microphthalmia	ORPHA:251014
Teebi-Shaltout Syndrome	Aortic valve stenosis, Microphthalmia, Ventricular septal defect, Short stature	OMIM:272950
Oculodentodigital Dysplasia, Autosomal Recessive	Short stature, Microphthalmia	OMIM:257850
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Ventricular septal hypertrophy, Intrauterine growth retardation, Ventricular sept...	OMIM:608670
Craniofacial Microsomia 1	Occipital encephalocele, Hydrocephalus, Branchial anomaly, Tetralogy of Fallot, Ventricular septa...	OMIM:164210
Fanconi Anemia, Complementation Group L	Hydrocephalus, Microphthalmia, Intrauterine growth retardation, Growth delay	OMIM:614083
Systemic Mastocytosis With Associated Hematologic Neoplasm	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:98849
Yunis-Varon Syndrome	Postnatal growth retardation, Microphthalmia, Bilateral microphthalmos, Hydrops fetalis, Polyhydr...	ORPHA:3472
Hallermann-Streiff Syndrome	Microphthalmia, Proportionate short stature, Spina bifida	OMIM:234100
Xeroderma Pigmentosum, Complementation Group B	Short stature, Microphthalmia	OMIM:610651
Trichothiodystrophy 1, Photosensitive	Short stature, Microphthalmia	OMIM:601675
Microphthalmia, Lenz Type	Short stature, Microphthalmia	ORPHA:568
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid valve prolapse, Microphthalmia, Anophthalmia, Hydrocephalus, Hypertrophic cardiomyopath...	ORPHA:2556
Myhre Syndrome	Microphthalmia, Aortic valve stenosis, Pericardial effusion, Short stature, Birth length less tha...	OMIM:139210
Norrie Disease	Buphthalmos, Microphthalmia, Hypoplasia of the iris	OMIM:310600
3Q29 Microdeletion Syndrome	Microphthalmia, Subvalvular aortic stenosis	ORPHA:65286
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Ventricular septal defect, Microphthalmia	ORPHA:464738
Branchiooculofacial Syndrome	Branchial anomaly, Short neck, Low posterior hairline	OMIM:113620
Monosomy 13Q14	Intrauterine growth retardation, Microphthalmia, Holoprosencephaly, Short stature	ORPHA:1587
Phace Association	Optic nerve hypoplasia, Microphthalmia, Ventricular septal defect	OMIM:606519
Systemic Lupus Erythematosus	Anorexia, Hematuria, Lymphadenopathy, Pyuria, Depression, Proteinuria, Lupus nephritis	ORPHA:536
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Rhizomelia, Encephalocele	OMIM:616300
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Sarcoidosis	Decreased liver function, Abnormal liver parenchyma morphology, Hepatomegaly, Abnormal lymph node...	ORPHA:797
Fontaine Progeroid Syndrome	Microphthalmia, Hydrocephalus, Umbilical hernia, Short stature, Abnormal heart morphology, Left v...	OMIM:612289
Fanconi Anemia, Complementation Group D2	Hydrocephalus, Microphthalmia, Abnormal heart morphology, Short stature	OMIM:227646
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Leptospirosis	Anorexia, Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Cellular urinary casts, E...	ORPHA:509
Chromosome 8Q21.11 Deletion Syndrome	Growth delay, Microphthalmia	OMIM:614230
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Rhizomelia, Anophthalmia	OMIM:615877
Stromme Syndrome	Hydrocephalus, Optic nerve hypoplasia, Microphthalmia	OMIM:243605
Dubowitz Syndrome	Postnatal growth retardation, Microphthalmia, Hypoplasia of the iris, Short stature, Intrauterine...	OMIM:223370
Aicardi-Goutieres Syndrome 7	Irritability, Hepatomegaly, Hepatitis, Nephrotic syndrome, Splenomegaly, Generalized lymphadenopa...	OMIM:615846
Primary Sjögren Syndrome	Abnormality of the kidney, Lymphadenopathy, Chronic active hepatitis, Depression, Biliary cirrhos...	ORPHA:289390
Phace Syndrome	Microphthalmia, Optic nerve hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Lens colo...	ORPHA:42775
Immunodeficiency 31C	Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:614162
Spondyloenchondrodysplasia With Immune Dysregulation	Tubulointerstitial fibrosis, Lymphadenopathy	OMIM:607944
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Severe postnatal growth retardation, Patent foramen ovale, Intrauterine growth re...	OMIM:620005
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short stature, Microphthalmia, Postnatal growth retardation, Rhizomelia	OMIM:608940
Behçet Disease	Anorexia, Irritability, Glomerulopathy, Pancreatitis, Lymphadenopathy, Splenomegaly, Renal insuff...	ORPHA:117
Holoprosencephaly 1	Microphthalmia, Alobar holoprosencephaly, Short stature, Ethmocephaly, Single ventricle	OMIM:236100
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia	OMIM:601812
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia	ORPHA:91495
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy	OMIM:617099
Crimean-Congo Hemorrhagic Fever	Anorexia, Agitation, Jaundice, Hematuria, Lymphadenopathy, Hepatomegaly, Emotional lability, Acut...	ORPHA:99827
Trichothiodystrophy	Bilateral microphthalmos, Cardiomyopathy, Umbilical hernia, Intrauterine growth retardation, Vent...	ORPHA:33364
Witteveen-Kolk Syndrome	Branchial fistula	OMIM:613406
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Rhizomelia, Microphthalmia, Severe short stature	ORPHA:85167
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia, Truncus arteriosus, Growth delay, Atrial septal defect	ORPHA:2538
Holoprosencephaly 9	Microphthalmia, Alobar holoprosencephaly, Hydrocephalus, Optic nerve hypoplasia, Anophthalmia, Sh...	OMIM:610829
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia, Tetralogy of Fallot	ORPHA:306542
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Patent foramen ovale, Short stature, Intrauterine growth retardation, Ventricular...	OMIM:616975
Neuroendocrine Neoplasm Of Appendix	Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfec...	ORPHA:100079
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Atelis Syndrome 2	Pulmonic stenosis, Microphthalmia, Supravalvar pulmonary stenosis	OMIM:620185
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Overriding aorta, Microphthalmia, Holoprosencephaly, Tetralogy of Fallot	ORPHA:3186
Malt Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Charge Syndrome	Postnatal growth retardation, Delayed puberty, Microphthalmia, Polyhydramnios, Anophthalmia, Unil...	OMIM:214800
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Microphthalmia, Buphthalmos	OMIM:221900
Cockayne Syndrome B	Postnatal growth retardation, Normal pressure hydrocephalus, Microphthalmia, Hypoplasia of the ir...	OMIM:133540
Acro-Renal-Ocular Syndrome	Postnatal growth retardation, Microphthalmia, Tetralogy of Fallot, Optic disc hypoplasia	ORPHA:959
Tangier Disease	Orange discolored tonsils, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventri...	ORPHA:31150
Momo Syndrome	Short stature, Bilateral microphthalmos	ORPHA:2563
Chédiak-Higashi Syndrome	Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Lymp...	ORPHA:167
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormal fear-induced behavior, Hypospadias, Emotional lability, Recurrent urinary tract infectio...	ORPHA:353281
Aicardi Syndrome	Postnatal growth retardation, Microphthalmia, Spina bifida	OMIM:304050
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Roberts Syndrome	Postnatal growth retardation, Microphthalmia, Polyhydramnios, Severe intrauterine growth retardation	ORPHA:3103
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Microphthalmia, Dehydration, Short stature, Umbilical hernia, Joint swelling, Bu...	ORPHA:534
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Sarcoidosis, Susceptibility To, 1	Anorexia, Hepatomegaly, Mediastinal lymphadenopathy, Hypercalciuria, Splenomegaly, Generalized ly...	OMIM:181000
Selective Igm Deficiency	Recurrent urinary tract infections, Lymphadenitis, Lymphadenopathy	ORPHA:331235
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Hypercalciuria, Ele...	ORPHA:653
Fryns Syndrome	Microphthalmia, Polyhydramnios, Chylothorax, Atrial septal defect, Ventricular septal defect	OMIM:229850
Incontinentia Pigmenti	Short stature, Microphthalmia, Hypoplasia of the fovea	OMIM:308300
Linear Nevus Sebaceus Syndrome	Growth delay, Microphthalmia	ORPHA:2612
Fraser Syndrome 2	Microphthalmia, Oligohydramnios	OMIM:617666
Acrofrontofacionasal Dysostosis 1	Short stature, Microphthalmia	OMIM:201180
Kawasaki Disease	Irritability, Cervical lymphadenopathy, Jaundice, Proteinuria, Sterile pyuria, Hepatitis, Cholecy...	ORPHA:2331
Blau Syndrome	Lymphadenopathy, Clear cell renal cell carcinoma, Splenomegaly, Abnormality of the liver, Stage 5...	ORPHA:90340
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Osteoporosis-Pseudoglioma Syndrome	Short stature, Phthisis bulbi, Microphthalmia, Ventricular septal defect	OMIM:259770
Bartsocas-Papas Syndrome 1	Intrauterine growth retardation, Patent foramen ovale, Microphthalmia	OMIM:263650
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Degcags Syndrome	Microphthalmia, Polyhydramnios, Dysplastic pulmonary valve, Patent foramen ovale, Pulmonic stenos...	OMIM:619488
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Lymphadenopathy	OMIM:617718
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Splenomegaly, Peritonitis	ORPHA:32960
Autosomal Dominant Kenny-Caffey Syndrome	Postnatal growth retardation, Bilateral microphthalmos, Short stature, Growth delay, Intrauterine...	ORPHA:93325
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Optic nerve hypoplasia, Lobar holoprosencephaly, Severe short stature, ...	ORPHA:468631
Microphthalmia With Limb Anomalies	Hydrocephalus, Microphthalmia, True anophthalmia, Short stature	ORPHA:1106
Oculodentodigital Dysplasia	Atrial septal defect, Microphthalmia	OMIM:164200
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Tetralogy of Fallot, Complete atrioventricular canal defect	OMIM:617925
Marburg Hemorrhagic Fever	Anorexia, Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Lympha...	ORPHA:99826
Renpenning Syndrome 1	Situs inversus totalis, Microphthalmia, Short stature, Tetralogy of Fallot, Atrial septal defect,...	OMIM:309500
Immunodeficiency 55	Lymphadenopathy	OMIM:617827
Cockayne Syndrome Type 3	Mild postnatal growth retardation, Microphthalmia, Cardiomyopathy	ORPHA:90324
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Severe short stature	OMIM:127000
Semilobar Holoprosencephaly	Hydrocephalus, Abnormal heart morphology, Neural tube defect	ORPHA:220386
Alobar Holoprosencephaly	Hydrocephalus, Abnormal heart morphology, Neural tube defect	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Hydrocephalus, Abnormal heart morphology, Neural tube defect	ORPHA:93926
Lobar Holoprosencephaly	Hydrocephalus, Abnormal heart morphology, Neural tube defect	ORPHA:93924
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Pallister-Hall Syndrome	Microphthalmia, Atrioventricular canal defect, Short stature, Holoprosencephaly, Umbilical hernia...	ORPHA:672
Hallermann-Streiff Syndrome	Microphthalmia, Proportionate short stature	ORPHA:2108
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Focal Dermal Hypoplasia	Microphthalmia, Aniridia, Spina bifida occulta, Anophthalmia, Hydrocephalus, Myelomeningocele, Sh...	OMIM:305600
Igg4-Related Ophthalmic Disease	Abnormality of the kidney, Pancreatitis, Cholangitis, Lymphadenopathy, Retroperitoneal fibrosis	ORPHA:449563
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Holoprosencephaly, Ventricular septal defect	ORPHA:141099
Rothmund-Thomson Syndrome, Type 2	Short stature, Microphthalmia	OMIM:268400
Chikungunya	Depression, Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Immunodeficiency 82 With Systemic Inflammation	Anorexia, Lymphadenopathy, Splenomegaly, Hepatitis, Follicular hyperplasia	OMIM:619381
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent peripheral lymph nodes in presence of infection	OMIM:600802
African Trypanosomiasis	Irritability, Urinary incontinence, Jaundice, Lymphadenopathy, Hepatomegaly, Hepatosplenomegaly, ...	ORPHA:3385
Autosomal Recessive Malignant Osteopetrosis	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:667
Cushing Syndrome Due To Ectopic Acth Secretion	Anorexia, Abnormal lymph node morphology, Depression, Emotional lability, Neoplasm of the thymus,...	ORPHA:99889
Schinzel-Giedion Syndrome	Neural tube defect, Delayed eruption of teeth, Abnormal heart morphology, Umbilical hernia, Short...	ORPHA:798
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Atrial septal defect, Microphthalmia, Total anomalous pulmonary venous return	OMIM:609945
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormality of the kidney, Abnormal fear-induced behavior, Hypospadias, Emotional lability, Recur...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormality of the kidney, Abnormal fear-induced behavior, Hypospadias, Emotional lability, Recur...	ORPHA:353277
Fraser Syndrome 1	Bilateral microphthalmos, Encephalocele, Anophthalmia, Hydrocephalus, Myelomeningocele, Abnormal ...	OMIM:219000
Neuroocular Syndrome	Microphthalmia, Patent foramen ovale, Short stature, Hypoplasia of the fovea, Lens coloboma, Umbi...	OMIM:619539
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Lymphadenopathy, Tubulointerstitial nephritis	ORPHA:79078
Aicardi Syndrome	Delayed puberty, Microphthalmia	ORPHA:50
Cockayne Syndrome	Postnatal growth retardation, Delayed puberty, Microphthalmia, Growth delay, Severe short stature	ORPHA:191
Fraser Syndrome	Microphthalmia, Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia	ORPHA:2052
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul...	OMIM:612474
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Splenomeg...	OMIM:256040
Roberts-Sc Phocomelia Syndrome	Postnatal growth retardation, Microphthalmia, Polyhydramnios, Hydrocephalus, Severe intrauterine ...	OMIM:268300
Plague	Anorexia, Hepatomegaly, Depression, Lymphadenitis, Splenomegaly, Enlarged mesenteric lymph node	ORPHA:707
Holoprosencephaly 2	Semilobar holoprosencephaly, Microphthalmia, Alobar holoprosencephaly, Holoprosencephaly, Single ...	OMIM:157170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Skin Creases, Congenital Symmetric Circumferential, 2	Short stature, Microphthalmia	OMIM:616734
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Monosomy 9P	Microphthalmia	ORPHA:261112
Tetraamelia Syndrome 1	Hydrocephalus, Microphthalmia	OMIM:273395
Mowat-Wilson Syndrome	Microphthalmia, Pulmonic stenosis, Short stature, Abnormal heart morphology, Atrial septal defect...	OMIM:235730
Townes-Brocks Syndrome	Delayed puberty, Microphthalmia, Short stature, Tetralogy of Fallot, Atrial septal defect, Abnorm...	ORPHA:857
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Treacher Collins Syndrome 1	Bilateral microphthalmos, Abnormal heart morphology	OMIM:154500
Lowe Oculocerebrorenal Syndrome	Short stature, Microphthalmia, Postnatal growth retardation	OMIM:309000
Norrie Disease	Delayed puberty, Microphthalmia, Hypoplasia of the iris, Aplasia/Hypoplasia of the lens	ORPHA:649
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus, Microphthalmia, Hypoplasia of the iris	OMIM:175780
Mowat-Wilson Syndrome	Microphthalmia, Aortic valve stenosis, Pulmonic stenosis, Short stature, Abnormal heart morpholog...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Pulmonic stenosis, Aortic valve stenosis, Short stature, Abnormal heart morpholog...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Pulmonic stenosis, Aortic valve stenosis, Short stature, Abnormal heart morpholog...	ORPHA:261552
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Microphthalmia, Syndromic 1	Bicuspid aortic valve, Microphthalmia, Anophthalmia, Growth delay	OMIM:309800

Histopathology

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

Phenotype	Allele	Zygosity	Life Stage
Lymph node - MPATH pathological process term hyperplasia	Sfmbt2^em1(IMPC)Mbp	HET	Early adult
Spleen - MPATH pathological process term hyperplasia	Sfmbt2^em1(IMPC)Mbp	HET	Early adult
Spleen - MPATH pathological entity term lymphoid hyperplasia	Sfmbt2^em1(IMPC)Mbp	HET	Early adult
Lymph node - MPATH pathological entity term lymphoid hyperplasia	Sfmbt2^em1(IMPC)Mbp	HET	Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Sfmbt2.

No publications found that use IMPC mice or data for Sfmbt2.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Sfmbt2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Sfmbt2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Sfmbt2^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Sfmbt2 MGI:2447794

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Gross Morphology Embryo E9.5

Gross Morphology Embryo E14.5-E15.5

Histopathology

MicroCT E9.5

X-ray

Human diseases caused by Sfmbt2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data