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Gene: Mllt10 MGI:1329038

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Gene Summary

Name:
myeloid/lymphoid or mixed-lineage leukemia; translocated to, 10
Synonyms:
B130021D15Rik,  Af10,  D630001B22Rik

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased body length Mllt10em1(IMPC)Mbp HET   Early adult 1.30×10-05
abnormal craniofacial morphology Mllt10em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Mllt10em1(IMPC)Mbp HET E15.5 0.00
enlarged cecum Mllt10em1(IMPC)Mbp HET Late adult 0.00
abnormal skin morphology Mllt10em1(IMPC)Mbp HET Late adult 0.00
abnormal lymph node morphology Mllt10em1(IMPC)Mbp HET Early adult 0.00
facial cleft Mllt10em1(IMPC)Mbp HOM E15.5 0.00
edema Mllt10em1(IMPC)Mbp HOM E15.5 0.00
abnormal facial morphology Mllt10em1(IMPC)Mbp HOM E15.5 0.00
enlarged ovary Mllt10em1(IMPC)Mbp HET Late adult 0.00
abnormal auditory brainstem response Mllt10em1(IMPC)Mbp HET   Early adult 5.64×10-05
decreased lymphocyte cell number Mllt10em1(IMPC)Mbp HET Early adult 7.04×10-05
hemorrhage Mllt10em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta vasculature Mllt10em1(IMPC)Mbp HOM E15.5 0.00
abnormal spleen morphology Mllt10em1(IMPC)Mbp HET Late adult 0.00
abnormal liver morphology Mllt10em1(IMPC)Mbp HET Late adult 0.00
abnormal heart morphology Mllt10em1(IMPC)Mbp HET Late adult 0.00
increased neutrophil cell number Mllt10em1(IMPC)Mbp HET Early adult 1.35×10-05
microphthalmia Mllt10em1(IMPC)Mbp HOM E15.5 0.00
abnormal blood vessel morphology Mllt10em1(IMPC)Mbp HOM E15.5 0.00
microphthalmia Mllt10em1(IMPC)Mbp HET Late adult 0.00
abnormal neural tube morphology Mllt10em1(IMPC)Mbp HOM E9.5 0.00
preweaning lethality, complete penetrance Mllt10em1(IMPC)Mbp HOM   Early adult 0.00
abnormal cecum morphology Mllt10em1(IMPC)Mbp HET Late adult 0.00
enlarged heart Mllt10em1(IMPC)Mbp HET Late adult 0.00
enlarged spleen Mllt10em1(IMPC)Mbp HET Late adult 0.00
abnormal caudal vertebrae morphology Mllt10em1(IMPC)Mbp HET   Early adult 2.62×10-09
enlarged lymph nodes Mllt10em1(IMPC)Mbp HET Early adult 0.00
abnormal ovary morphology Mllt10em1(IMPC)Mbp HET Late adult 0.00
abnormal placenta morphology Mllt10em1(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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X-ray

XRay Images Whole Body Dorso Ventral

27 Images

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Gross Morphology Embryo E9.5

Images

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E9.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E14.5-E15.5

Images

15 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

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Human diseases caused by Mllt10 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.

The table below shows human diseases associated to Mllt10 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626

The table below shows human diseases predicted to be associated to Mllt10 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fryns Microphthalmia Syndrome
Tessier cleft, Anophthalmia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmia, Neural ... OMIM:600776
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Pancreatic adeno... ORPHA:2869
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
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate, Microphthalmia OMIM:600251
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Anophthalmia Plus Syndrome
Tessier cleft, Anophthalmia, Bilateral cleft palate, Spina bifida, Non-midline cleft of the upper... ORPHA:1104
Ethanolaminosis
Cardiomegaly OMIM:227150
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit... ORPHA:543
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, ... ORPHA:444463
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Intestinal malrotation, Cryptorchidism, Anophthalmia, Ventricular septal... OMIM:615524
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Charcot-Marie-Tooth Disease, Type 4B1
Scoliosis, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial... OMIM:601382
Hepatic Adenomas, Familial
Hepatocellular adenoma, Polycystic ovaries OMIM:142330
Gombo Syndrome
Abnormal heart morphology, Microphthalmia OMIM:233270
Immunodeficiency 104
Recurrent otitis media, Splenomegaly, Otitis media, Lymphadenopathy, T lymphocytopenia OMIM:608971
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Median cleft palate, Microphthalmia ORPHA:2432
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Tessier cleft, Bilateral microphthalmos, Ethmoidal encephalocele, Cleft palate, Optic nerve hypop... OMIM:607597
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... OMIM:619846
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Immunodeficiency 53
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Anterior encephalocele, Bilateral cleft palate, Bilateral cleft lip, Holoprosencep... OMIM:601357
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy ORPHA:52416
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... OMIM:619924
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Frontonasal Dysplasia 3
Tessier cleft, Cleft palate, Microphthalmia OMIM:613456
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N... OMIM:619220
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... ORPHA:90301
Frontofacionasal Dysplasia
Tessier cleft, Encephalocele, Microphthalmia, Non-midline cleft of the upper lip, Cleft palate ORPHA:1791
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Anophthalmia, Orofacial cleft, Microphthalmia, Holoprosencephaly OMIM:611638
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Portal Hypertension, Noncirrhotic, 1
Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Hepat... OMIM:617068
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Ascite... ORPHA:2198
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Mast Cell Sarcoma
Mastocytosis, Hypoplasia of the ear cartilage, Splenomegaly, Lymphadenopathy, Mediastinal lymphad... ORPHA:66661
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... OMIM:615897
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Opitz Gbbb Syndrome
Bifid scrotum, Abnormal heart morphology, Ankyloglossia, Cryptorchidism, Patent foramen ovale, Ve... ORPHA:2745
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cel... OMIM:618982
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocytosis, Leuk... OMIM:614470
Congenital Fibrinogen Deficiency
Volvulus, Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Sple... ORPHA:335
Cerebrooculofacioskeletal Syndrome 3
Cleft palate, Edema, Microphthalmia OMIM:616570
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Ascites, Cardiomegaly, Anemia, Lymphaden... ORPHA:858
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T ce... OMIM:300853
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia OMIM:618987
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect, Microphthalmia, Anal atresia, Abnormal external ... ORPHA:3469
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Acute hepatic failure, Hepatocellular carcinoma ORPHA:882
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Ectopic anus, Aplasia/Hypoplasia affecting the eye, Polycystic ova... ORPHA:1643
Oculomaxillofacial Dysostosis
Tessier cleft, Aplasia/Hypoplasia affecting the eye, Cleft palate ORPHA:1794
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent otitis media, Absent... OMIM:245480
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Mmep Syndrome
Microphthalmia, Cryptorchidism, Ventricular septal defect ORPHA:3434
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Neonatal ch... ORPHA:79301
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... ORPHA:91348
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Otitis ... OMIM:602450
Rabson-Mendenhall Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Cardiomyopathy, Furrowed tongue, Ventricula... ORPHA:769
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Anemia OMIM:603552
Alpha-Heavy Chain Disease
Ascites, Abnormal small intestine morphology, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Supernumerary Nostril
Tessier cleft ORPHA:141096
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Colitis ORPHA:88643
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Recurrent otitis media, Lymphopenia, B lymphocytopenia, Ab... ORPHA:277
Leprechaunism
Megarectum, Clitoral hypertrophy, Long penis, Overgrowth of external genitalia, Hypertrophic card... ORPHA:508
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hypogo... OMIM:613313
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosis, Gastric varix, ... OMIM:613490
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Recurrent tonsillitis, Splenomegaly, Lymphadenopathy OMIM:618852
Immunodeficiency 32A
Lymphadenitis, Granuloma, Lymphadenopathy OMIM:614893
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Insulin-Resistance Syndrome Type B
Biliary cirrhosis, Leukopenia, Polycystic ovaries, Enlarged polycystic ovaries, Enlarged ovaries,... ORPHA:2298
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Lo... OMIM:613101
Cerebrooculonasal Syndrome
Tessier cleft, Anophthalmia ORPHA:66625
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Unilateral Ocular Duplication
Polyhydramnios, Midline facial cleft, Encephalocele, Cleft palate ORPHA:3374
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... OMIM:619802
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hepatic steatosis, Polycystic ovaries ORPHA:79084
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Mosaic Trisomy 9
Tessier cleft, Oligohydramnios, Spina bifida, Microphthalmia, Polyhydramnios, Hydrops fetalis, Cl... ORPHA:99776
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Ascites, Azoospermia, Sp... OMIM:235200
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 18
Reduced natural killer cell count, Recurrent otitis media, Lymphopenia, Abnormal B cell count, De... OMIM:615615
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Splenomegaly, Lymphadenopathy ORPHA:100024
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Recurrent otitis media, Splenomegaly, Decreased proportion of class-switch... OMIM:607594
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphadenitis, Recurrent otitis media, Lymp... OMIM:618986
Matthew-Wood Syndrome
Annular pancreas, Abnormality of the uterus, Duodenal stenosis, Cryptorchidism, Anophthalmia, Abn... ORPHA:2470
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, Esophageal varix ORPHA:75234
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Orofacial cleft, Occipital encephalocele, Hydrocephalus, Microphthalmia ORPHA:324416
Microphthalmia, Isolated 4
Absent testis, Microphthalmia OMIM:613094
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Ele... OMIM:619868
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Microphthalmia, Cryptorchidism, Ventricular septal defect OMIM:613730
Immunodeficiency 7
Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenop... OMIM:615387
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate... OMIM:620010
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Cleft palate OMIM:239800
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Ovarian Hyperstimulation Syndrome
Ascites, Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased circulati... ORPHA:64739
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, High palate, Microphthalmia ORPHA:2528
Cinca Syndrome
Progressive sensorineural hearing impairment, Hearing impairment, Hepatosplenomegaly, Leukocytosi... OMIM:607115
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Immunodeficiency 8 With Lymphoproliferation
Recurrent otitis media, Lymphopenia OMIM:615401
Erythroleukemia, Familial, Susceptibility To
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619658
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged... OMIM:209950
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... OMIM:619463
Mycophenolate Mofetil Embryopathy
Tessier cleft, Orofacial cleft, Hydrocephalus, Microphthalmia, Hydrops fetalis ORPHA:268249
Infantile Sialic Acid Storage Disease
Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, High palate OMIM:269920
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly, Sensorineural hearing impairment OMIM:611762
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Microcytic anemia, Hepatic steatosis, Pancreatitis, Elevated circulating ... OMIM:618805
Congenital Rubella Syndrome
Splenomegaly, Aplasia/Hypoplasia of the iris, Ventricular septal defect, Anemia, Atrial septal de... ORPHA:290
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Abno... ORPHA:64743
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... OMIM:601859
Oculocerebrocutaneous Syndrome
Tessier cleft, Orofacial cleft, Hydrocephalus ORPHA:1647
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Recurrent otitis media, Autoimmun... OMIM:301078
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Ascites, Ga... ORPHA:131
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, ... OMIM:300635
Acrofacial Dysostosis, Weyers Type
Tessier cleft ORPHA:952
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:615285
Coproporphyria, Hereditary
Increased fecal coproporphyrin 3, Splenomegaly, Increased fecal coproporphyrin III:coproporphyrin... OMIM:121300
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... OMIM:617519
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Ovarian Fibroma
Abnormality of the ovary, Ascites, Gonadal calcification, Ovarian fibroma, Peritonitis, Mesenteri... ORPHA:314473
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism,... OMIM:602390
Peutz-Jeghers Syndrome
Intestinal bleeding, Uterine neoplasm, Gastrointestinal carcinoma, Bile duct polyp, Ovarian cyst,... OMIM:175200
Adams-Oliver Syndrome 4
Microphthalmia, Atrial septal defect, Ventricular septal defect OMIM:615297
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Sensorineural hearing im... ORPHA:3226
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos, Bicuspid aortic valve, Anal... OMIM:619318
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... OMIM:603909
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma... ORPHA:615
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Elevated circulati... ORPHA:400
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Neutrophilia,... ORPHA:54251
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Breast hypoplasia, Hypoplasia of the uterus, Increased circulating g... ORPHA:785
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... ORPHA:206484
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... OMIM:617394
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra... OMIM:607765
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatic failure, Hepatitis, El... OMIM:613812
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Fat malab... OMIM:601847
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Absent circulating B cells, Splenomegaly, Generalized lymphadenopathy OMIM:620282
Meckel Syndrome, Type 8
Occipital encephalocele, Anophthalmia, Encephalocele, Microphthalmia, Pericardial effusion, Cleft... OMIM:613885
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia OMIM:608184
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Wolman Disease
Hepatomegaly, Splenomegaly, Acute hepatic failure OMIM:620151
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... ORPHA:1414
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:615085
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... OMIM:618652
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly, Cardiomyopathy, Hypogonadism OMIM:608540
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymph... OMIM:618495
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Polycythemia, Aganglionic megacolon, Tot... OMIM:600501
Acrofacial Dysostosis, Catania Type
Tessier cleft, Spina bifida occulta ORPHA:1786
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Hepatic stea... OMIM:278000
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Recurrent otitis media, Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Abnormal m... ORPHA:98848
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con... OMIM:616278
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:545
Aromatase Deficiency
Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Hepatic steatosis, Enl... ORPHA:91
Hartsfield Syndrome
Non-midline cleft of the upper lip, Encephalocele, Microphthalmia, Lobar holoprosencephaly, Cleft... ORPHA:2117
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Elevated circulating hepatic tran... OMIM:602347
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Hearing impairment, Recurrent otitis media, Splenomegaly, Lymphadenopathy,... ORPHA:397596
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased testicular size, Cryptorchidism, Polycy... ORPHA:90796
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventricular septal defec... OMIM:616589
Ornithine Transcarbamylase Deficiency
Hepatic failure, Splenomegaly, Pyloric stenosis ORPHA:664
Tularemia
Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph... ORPHA:3392
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Cat Eye Syndrome
Hypoplastic left heart, Total anomalous pulmonary venous return, Anal stenosis, Meckel diverticul... OMIM:115470
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis OMIM:610293
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis, Polycystic ovaries ORPHA:280356
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Microphthalmia ORPHA:1528
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis, Polycystic ovaries OMIM:608709
Congenital Myopathy 8
Cardiomegaly, High palate OMIM:618654
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... OMIM:616860
Cyclic Neutropenia
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Otitis media, P... ORPHA:2686
Nanophthalmos
Microphthalmia ORPHA:35612
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Gaucher Disease Type 2
Hepatomegaly, Dysphagia, Splenomegaly ORPHA:77260
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Cardiomegaly, He... OMIM:600649
Wolman Disease
Hepatic failure, Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells, Esophageal ... ORPHA:75233
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly ORPHA:172
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy OMIM:607271
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
High, narrow palate, Elevated circulating luteinizing hormone level, Abnormal male external genit... ORPHA:95699
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia ORPHA:79477
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Gastroesophageal reflux, Hepatocellular necrosis, Hypertrophic cardiomyopath... OMIM:201475
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly OMIM:616719
Oculocerebrocutaneous Syndrome
Anophthalmia, Orbital encephalocele, Cleft palate, Microphthalmia OMIM:164180
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Schnitzler Syndrome
Anemia, Leukocytosis, Splenomegaly, Lymphadenopathy ORPHA:37748
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cardi... ORPHA:264580
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrho... OMIM:208540
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Hurler-Scheie Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato... ORPHA:93476
Cold Agglutinin Disease
Back pain, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Granuloma, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impaired oxidat... OMIM:618935
Immunodeficiency 13
Recurrent otitis media, Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positiv... OMIM:615518
Congenital Pulmonary Lymphangiectasia
Gastroesophageal reflux, Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis ORPHA:2414
Leishmaniasis
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Lymphadenopathy, Thromboc... ORPHA:507
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ovarian cyst OMIM:268650
Frontonasal Dysplasia 2
Tessier number 13 facial cleft, Oligohydramnios, Encephalocele, Microphthalmia OMIM:613451
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Microphthalmia OMIM:120433
Neuraminidase Deficiency
Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-m... OMIM:256550
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia OMIM:218670
Fanconi Anemia, Complementation Group G
Microphthalmia, Anemia, Neutropenia, Thrombocytopenia, Leukemia OMIM:614082
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Unilateral conductive hearing impairment, Sensorineural he... ORPHA:100084
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Hepatic failure, Abnormally large globe, Abnormality of the uterus, P... ORPHA:1655
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Hypospadias, Microphthalmia ORPHA:141333
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Hepatomegaly, High palate, Microphthalmia OMIM:619053
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Anophthalmia, Ventricular septal defect, Tracheoesophageal fistula, Esophageal at... ORPHA:77298
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hypertrophic cardiomyopathy, Decreased carnitine level in liver, Elevated circula... OMIM:212140
Nanophthalmos 4
Microphthalmia OMIM:615972
Roifman Syndrome
Biconvex vertebral bodies, Recurrent otitis media, Splenomegaly, Eosinophilia, Lymphadenopathy, I... OMIM:616651
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po... OMIM:620367
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Ovarian cyst, Neoplasm... ORPHA:454840
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Anisocytos... OMIM:615631
Beta-Thalassemia
Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Splenomegaly, Abnormal... ORPHA:848
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Ovarian Fibrothecoma
Abnormality of the ovary, Ascites, Gonadal calcification, Abnormal endometrium morphology, Ovaria... ORPHA:314478
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Blood group antigen abnormality, A... ORPHA:199310
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Distal Deletion 10P
Cryptorchidism, Polycystic ovaries, Ectopic anus, Anal atresia, Hypoplasia of penis, Cleft palate ORPHA:1580
Hydrolethalus
Unilateral cleft lip, Anophthalmia, Submucous cleft hard palate, Hydrocephalus, Microphthalmia, P... ORPHA:2189
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con... ORPHA:158057
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Gastroesophageal reflux, Intestinal malrotation, Abnormality of the spleen, Esophag... ORPHA:2538
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy ORPHA:2584
Familial Adenomatous Polyposis 4
Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Adenomatous colonic polyposis, Uterine ... OMIM:617100
Cowden Syndrome
Abnormal penis morphology, Abnormality of the uterus, Goiter, Furrowed tongue, Endometrial carcin... ORPHA:201
Cinca Syndrome
Hearing impairment, Pseudopapilledema, Leukocytosis, Splenomegaly, Sensorineural hearing impairme... ORPHA:1451
Gracile Bone Dysplasia
Ascites, Ankyloglossia, Aniridia, Microphthalmia, Micropenis, Asplenia, Hypoplastic spleen OMIM:602361
2Q24 Microdeletion Syndrome
Cleft palate, Microphthalmia ORPHA:1617
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Microphthalmia OMIM:614830
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal enteric ... ORPHA:85451
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Tessier cleft, Microphthalmia ORPHA:1236
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly, Lymphadenopathy OMIM:609981
Constricting Bands, Congenital
Tessier cleft, Encephalocele, Cleft palate OMIM:217100
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Joubert Syndrome 37
Decreased testicular size, Cryptorchidism, Micropenis, Microphthalmia, Hepatomegaly, High palate OMIM:619185
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Treacher-Collins Syndrome
Tessier cleft, Branchial fistula, Encephalocele, Microphthalmia, Cleft palate ORPHA:861
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Elevated circulating hepatic transaminase concentration OMIM:619064
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphadenopathy, Thrombocytopenia, ... OMIM:603554
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... OMIM:612714
Harderoporphyria
Increased fecal harderoporphyrin, Splenomegaly, Reticulocytosis, Prolonged neonatal jaundice, Hep... OMIM:618892
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Gastroesophageal reflux, Anteriorly placed anus, Abnormal heart morphology, ... OMIM:618494
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Progressive sensorineural hearing impairment, Iron deficiency anemia, Thrombocytopenia, Neutropen... ORPHA:494444
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Kapur-Toriello Syndrome
Tetralogy of Fallot, Intestinal malrotation, Ventricular septal defect, Hypoplastic labia majora,... ORPHA:2328
Transaldolase Deficiency
Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Decreased liver function, Hepatos... OMIM:606003
Mulibrey Nanism
Microglossia, Ascites, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis, Duodenal stenosis ORPHA:2547
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hypertroph... ORPHA:528
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymphadenopathy OMIM:615122
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Esophageal varix, Righ... OMIM:616028
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect, Hepatomegaly, Cleft palate OMIM:620210
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, High palate, Cleft palate, Microphthalmia ORPHA:1135
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Microphthalmia, Syndromic 8
Cryptorchidism, Cleft palate, Microphthalmia OMIM:601349
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Low-set ears, Microcytic anemia, Hepatosplenomegaly, Short neck, Lymphadenopathy, Scoliosis, Post... OMIM:619750
Isolated Arrhinia
Tessier cleft, Microphthalmia ORPHA:1134
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Cranium bifidum occultum, Cleft palate, Microphthalmia ORPHA:306542
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Hydrocephalus, Cardiomyopathy, Microphthalmia OMIM:613155
17Q12 Microduplication Syndrome
Tracheoesophageal fistula, Atrial septal defect, Cleft palate, Microphthalmia ORPHA:261272
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Progressive hearing impairment, Cervical lymphadeno... ORPHA:514
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... OMIM:620642
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Os odontoideum, Biconcave vertebral bodies, Sensorineural he... OMIM:619260
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Ataxia-Telangiectasia
Elevated circulating hepatic transaminase concentration, Aplasia/Hypoplasia of the thymus, Lympho... ORPHA:100
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Roifman Syndrome
Biconvex vertebral bodies, Recurrent otitis media, Hepatosplenomegaly, Eosinophilia, Lymphadenopathy ORPHA:353298
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Sensorineural hearing impairment, Congenital thrombocytopenia, Neutropenia, T... OMIM:616738
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Lymph node hypoplasia, Otitis media, Autoimmune hemolytic anemia, Splenomegaly, Neut... OMIM:613179
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Meckel Syndrome, Type 5
Microphthalmia, Occipital encephalocele, Cleft palate, Anencephaly OMIM:611561
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil... OMIM:226990
Microphthalmia, Isolated 5
Microphthalmia, Cystoid macular edema OMIM:611040
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Long-Olsen-Distelmaier Syndrome
Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Elevated circulating as... OMIM:620609
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Anemia, Elevated hepatic iron conc... OMIM:615234
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Cirrhosis, Panc... ORPHA:79083
Cofs Syndrome
Hypogonadism, Microphthalmia ORPHA:1466
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Pancreatitis, H... ORPHA:2348
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Elevated circulating hepatic transaminase concentration, Recurrent infection of ... OMIM:613489
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Immune Dysregulation, Autoimmunity, And Autoinflammation
Anemia, Inguinal lymphadenopathy, Cervical lymphadenopathy OMIM:620514
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Portal hypertension, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, C... ORPHA:465508
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Recurrent otitis media, Lymphopenia, Absent peripheral lymph nodes i... OMIM:600802
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Furrowed tongue, Stomach cancer, Intestinal polyposis, Splenomegaly, ... ORPHA:2930
Meckel Syndrome, Type 2
Intestinal malrotation, Bile duct proliferation, Cleft palate, Microphthalmia OMIM:603194
Lymphangiectasia, Intestinal
Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Lymphopenia, Lymphocytic infiltration of the colorectal mucosa, Splenomegaly,... OMIM:616100
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope... OMIM:304790
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hearing impairment, Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic... OMIM:617780
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Amyloidosis, Hereditary Systemic 2
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Cat-Eye Syndrome
Anal atresia, Microphthalmia ORPHA:195
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy,... OMIM:300280
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia, Bone marrow hypocellularity, Enterocolitis, Decreased pineal volume OMIM:301108
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Microphthalmia, Meningocele, Anencephaly, Cleft palate OMIM:611134
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... OMIM:235700
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
American Trypanosomiasis
Cardiomyopathy, Splenomegaly, Aganglionic megacolon, Achalasia, Lymphadenopathy, Myocarditis, Hep... ORPHA:3386
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Abnormal heart morphology, Intestinal malrotation, Abnormal gastrointestinal tract m... ORPHA:404440
Bresek Syndrome
Decreased testicular size, Cryptorchidism, Aganglionic megacolon, Microphthalmia, Cleft palate, O... ORPHA:85284
Preeclampsia
Abnormality of the hepatic vasculature, Elevated circulating hepatic transaminase concentration, ... ORPHA:275555
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
X-Linked Sideroblastic Anemia
Anemia, Elevated circulating hepatic transaminase concentration, Splenomegaly ORPHA:75563
Linear Skin Defects With Multiple Congenital Anomalies 2
Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect, Microphthalmia OMIM:300887
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Increase... ORPHA:231222
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, External genital hypoplasia, Cryptorchidism, Microphthalmia ORPHA:363741
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Intestinal lymphangiectasia OMIM:207731
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Inc... OMIM:618048
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Throm... ORPHA:100026
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Polycystic ovaries ORPHA:79085
Trisomy 13
High, narrow palate, Abnormal morphology of female internal genitalia, Cryptorchidism, Anophthalm... ORPHA:3378
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Ambiguous genitalia, Ventricular septal defect ORPHA:93267
Pierpont Syndrome
Cryptorchidism, Microphthalmia ORPHA:487825
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Subaortic Stenosis-Short Stature Syndrome
Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Biliary tract abnormality, M... ORPHA:3191
Warburg Micro Syndrome 1
External genital hypoplasia, Cryptorchidism, Microphthalmia OMIM:600118
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Leukemia, Ventricular septal defect OMIM:602501
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Elevated circulating hepatic tr... ORPHA:2137
Fanconi Anemia, Complementation Group S
Ovarian carcinoma, Microphthalmia, Anemia, Narrow palate, Ovarian neoplasm OMIM:617883
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Multiple Benign Circumferential Skin Creases On Limbs
Edema, Umbilical hernia, Congestive heart failure, Microphthalmia, Cleft palate ORPHA:2505
Fraser Syndrome 1
Tessier cleft, Bilateral microphthalmos, Myelomeningocele, Encephalocele, Anophthalmia, Hydroceph... OMIM:219000
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia OMIM:617827
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Pierpont Syndrome
Micropenis, Cryptorchidism, Microphthalmia OMIM:602342
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Bilateral cryptorchidism, Lymphopenia, Abdominal adhesions, Neutropenia, Mic... OMIM:616395
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD... ORPHA:331206
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Spondyloenchondrodysplasia With Immune Dysregulation
Low-set ears, Platyspondyly, Recurrent otitis media, Lymphopenia, Lumbar hyperlordosis, T lymphoc... OMIM:607944
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Pancytopenia, Villous atrophy, Splenomegaly, Enterocolitis, Th... OMIM:616050
Monosomy 18P
Lymphedema, Microphthalmia, Holoprosencephaly, Hypertension, Cleft palate ORPHA:1598
3Mc Syndrome 3