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Gene: Gna15 MGI:95770

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Gene Summary

Name:
guanine nucleotide binding protein, alpha 15
Synonyms:
Galpha15,  G[a]15

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
microphthalmia Gna15em1(IMPC)Mbp HOM Late adult 0.00
abnormal ovary morphology Gna15em1(IMPC)Mbp HOM Late adult 0.00
small heart Gna15em1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Gna15em1(IMPC)Mbp HOM Late adult 0.00
enlarged uterus Gna15em1(IMPC)Mbp HOM Late adult 0.00
abnormal heart morphology Gna15em1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Gna15em1(IMPC)Mbp HOM Late adult 0.00
abnormal testis morphology Gna15em1(IMPC)Mbp HOM Late adult 0.00
abnormal heart morphology Gna15em1(IMPC)Mbp HOM Late adult 0.00
abnormal uterus morphology Gna15em1(IMPC)Mbp HOM Late adult 0.00
enlarged liver Gna15em1(IMPC)Mbp HOM Late adult 0.00
small heart Gna15em1(IMPC)Mbp HOM Early adult 0.00
abnormal liver morphology Gna15em1(IMPC)Mbp HOM Late adult 0.00
enlarged spleen Gna15em1(IMPC)Mbp HOM Late adult 0.00
enlarged ovary Gna15em1(IMPC)Mbp HOM Late adult 0.00
abnormal skin morphology Gna15em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Gna15em1(IMPC)Mbp HOM Late adult 0.00
enlarged testis Gna15em1(IMPC)Mbp HOM Late adult 0.00
abnormal skin morphology Gna15em1(IMPC)Mbp HOM Late adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

42 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

18 Images

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X-ray

XRay Images Whole Body Lateral Orientation

6 Images

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Human diseases caused by Gna15 mutations

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

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

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

The table below shows human diseases predicted to be associated to Gna15 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea OMIM:184700
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus, Anemia ORPHA:99927
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Bicornuate uter... OMIM:615524
Ethanolaminosis
Cardiomegaly OMIM:227150
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Hepatic Adenomas, Familial
Hepatocellular adenoma, Polycystic ovaries OMIM:142330
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Megalencephaly
Atrial septal defect, Long penis, Macroorchidism ORPHA:2477
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... ORPHA:90301
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Gombo Syndrome
Microphthalmia, Abnormal heart morphology OMIM:233270
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Mmep Syndrome
Microphthalmia, Ventricular septal defect, Cryptorchidism ORPHA:3434
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism, Mitral valve prolapse OMIM:300624
Burkitt Lymphoma
Abnormality of the pancreas, Abnormality of the spleen, Abnormal lymph node morphology, Abnormali... ORPHA:543
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:619874
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenom... OMIM:235200
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Secondary amenorrhea, Cardiomyopathy, ... OMIM:613313
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Microphthalmia, Ventricular septal defect, Hepatomegaly OMIM:613730
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Hepatomegaly ORPHA:2432
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy... OMIM:602390
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... ORPHA:324410
Partington Syndrome
Macroorchidism ORPHA:94083
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Enlarged polycystic ovaries, Abnormality of th... ORPHA:2869
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries ORPHA:79084
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadeno... ORPHA:858
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Fragile X Syndrome
Macroorchidism, Mitral valve prolapse ORPHA:908
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Ventricular septal defect, Hypospadias, Cryptorchidism, Abnormal... ORPHA:2745
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... ORPHA:90796
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Splenic rupture, Left ventricular hypertrophy, Microphthalmia, Micropen... ORPHA:335
Polyembryoma
Abnormal peritoneum morphology, Abdominal mass, Isosexual precocious puberty, Irregular menstruat... ORPHA:180229
Lujan-Fryns Syndrome
Atrial septal defect, Macroorchidism ORPHA:776
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Rabson-Mendenhall Syndrome
Enlarged ovaries, Ventricular septal defect, Precocious puberty, Long penis, Cardiomyopathy, Atri... ORPHA:769
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin... ORPHA:400
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Pancytopenia, Elevated circulating growth hormone concentration,... ORPHA:562
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy OMIM:609016
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries, Apl... ORPHA:1643
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Enlarged polycystic ovaries, Biliary cirrhosis, Polycystic ovaries, Leukopenia,... ORPHA:2298
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Hepatomegaly, Hypogonadism, Cardiomyopathy OMIM:608540
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Primary amenorrhea, Hypopl... ORPHA:785
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Ovarian Fibroma
Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Ascites, Abnormality of the... ORPHA:314473
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatic fibrosis, Infertility, Oligomenorrhea, Hepatic steatosis ORPHA:280356
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Micropht... OMIM:618652
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Unilateral microphthalmos, Mitral valve prolapse OMIM:618874
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Xk Aprosencephaly Syndrome
Atrial septal defect, Microphthalmia, Abnormal external genitalia, Ventricular septal defect ORPHA:3469
Leprechaunism
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,... ORPHA:508
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morphology, Gonadal calcificatio... ORPHA:314478
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis, Polycystic ovaries OMIM:608709
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Ventricular septal defect, Elevated circulating aspartate aminotransferas... OMIM:614876
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo... OMIM:614841
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:605911
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abn... ORPHA:2470
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Immunodeficiency 104
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Hyposp... OMIM:301045
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Adrenal hyperplasia, Jaundice, Male pseudohermaphroditism, Macroorchidism,... ORPHA:90790
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... ORPHA:3411
Microphthalmia, Syndromic 9
Anophthalmia, Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Bilateral microphtha... OMIM:601186
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo... OMIM:614837
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Microcytic anemia, Dilated cardiomyopathy, Elevated circulating alanine aminotransf... OMIM:618805
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma ORPHA:882
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Aplasia/Hypoplasia of the iris, ... ORPHA:290
Tetragametic Chimerism
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... ORPHA:199310
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... OMIM:615234
Preeclampsia
Elevated hepatic transaminase, Thrombocytopenia, Abnormality of the hepatic vasculature, Polycyst... ORPHA:275555
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:620010
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Aniridia, A... OMIM:194072
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism OMIM:300055
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Abnormally large globe, Splenomegaly, Pancreatic lymphan... ORPHA:1655
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites OMIM:269920
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Hypogonadism ORPHA:2528
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... OMIM:612965
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Hepatomegaly, Micropenis, Cryptorchidism OMIM:613861
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:618078
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Polycystic ovaries, Primary ameno... ORPHA:79083
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Polycystic ovaries, Hypertrophic ... ORPHA:2348
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Ataxia-Telangiectasia
Elevated hepatic transaminase, Abnormal testis morphology, Polycystic ovaries, Lymphopenia, Aplas... ORPHA:100
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... ORPHA:465508
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Abnormal vagina morphology, Anemia, Ascites, Thrombocytopenia ORPHA:2123
Vaginal Atresia
Cervicitis, Vaginal hematocele, Abdominal mass, Pelvic mass, Transverse vaginal septum, Uterus di... ORPHA:65681
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Oligomenorrhea, Polycystic ovaries ORPHA:79085
Congenital Generalized Lipodystrophy
Hepatomegaly, Overgrowth of external genitalia, Precocious puberty in females, Polycystic ovaries... ORPHA:528
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi... ORPHA:615
Joubert Syndrome 37
Hepatomegaly, Cryptorchidism, Microphthalmia, Micropenis, Decreased testicular size OMIM:619185
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Carney Complex
Pituitary growth hormone cell adenoma, Leydig cell neoplasia, Abnormal sperm motility, Ovarian se... ORPHA:1359
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Bicornuate uterus, Abnormal heart morphology OMIM:263210
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular... OMIM:600649
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:619868
Meckel Syndrome, Type 8
Anophthalmia, Pericardial effusion, Ambiguous genitalia, Microphthalmia, Enlarged kidney OMIM:613885
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Macroorchidism, Ventricular septal defect OMIM:309520
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormal spermatogenesis, Azoospermia, Ovari... OMIM:228300
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Abnormal erythrocyte enzyme level, Spl... ORPHA:264580
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Secondary amenorrhea, Polycystic ovaries, Decreas... ORPHA:3085
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Septate vagina,... OMIM:608978
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... ORPHA:83469
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Bilateral microphthalmos, Bicuspid aortic valve, Unilateral microphthalmos OMIM:619318
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... OMIM:616828
Adams-Oliver Syndrome 4
Atrial septal defect, Microphthalmia, Ventricular septal defect OMIM:615297
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Thrombocytopenia, Mi... OMIM:606003
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Hypogonadism, External genital hypoplasia, Cryptorchidism ORPHA:363741
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Unilateral microphthalmos, Anemia, Thrombocytopenia OMIM:615085
Biemond Syndrome Type 2
Hypogonadism, Microphthalmia, Hypogonadotropic hypogonadism, Hypospadias ORPHA:141333
Donnai-Barrow Syndrome
Bicornuate uterus, Ventricular septal defect, Abnormality of the uterus ORPHA:2143
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa... ORPHA:95699
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... OMIM:256550
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow hypocellularity... OMIM:619151
Cardiac-Urogenital Syndrome
Bifid scrotum, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hyposp... OMIM:618280
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618117
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... ORPHA:93476
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Polycystic ovaries, Oligomenorrhea, Hepatic steatosis, Pancreatitis ORPHA:435651
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:615158
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... OMIM:602347
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Elevated ... ORPHA:90797
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly OMIM:619064
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea OMIM:616947
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... OMIM:212140
Caudal Duplication
Abnormal penis morphology, Cryptorchidism, Uterus didelphys ORPHA:1756
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:617690
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis ORPHA:172
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis OMIM:616719
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Elevated circulating aspartate aminotransferase concentrat... OMIM:619048
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Cirrhosis, Hepato... ORPHA:369
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... OMIM:214900
Attrv30M Amyloidosis
Cardiomyopathy, Impotence, Cardiomegaly ORPHA:85447
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content OMIM:232700
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase OMIM:617068
Mosaic Trisomy 9
Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Ab... ORPHA:99776
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Hemochromatosis, Type 4
Hepatomegaly, Cardiomyopathy, Impotence, Cirrhosis, Hepatic steatosis, Anemia OMIM:606069
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hypogonadism, Cryptorchidism OMIM:601794
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Polycystic ovaries, Abnormal labia majora morphology, Oligomenorrhea, Hepatic steat... ORPHA:435660
Warburg Micro Syndrome 1
Microphthalmia, External genital hypoplasia, Cryptorchidism OMIM:600118
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Cryptorchidism OMIM:164180
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Cofs Syndrome
Microphthalmia, Hypogonadism ORPHA:1466
Diabetic Embryopathy
Ventricular septal defect, Abnormality of the pancreas, Cryptorchidism, Tetralogy of Fallot, Abno... ORPHA:1926
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Splenomegaly, Ascites, Anemia ORPHA:1046
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Cardiomyopathy, Hepatic fib... OMIM:232400
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Cryptorchidism, ... OMIM:264480
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Meacham Syndrome
Hypoplasia of penis, Ambiguous genitalia, Ventricular septal defect, Situs inversus totalis, Abno... ORPHA:3097
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Microphthalmia, Ventricular septal defect ORPHA:93267
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Pulmonic stenosis, Restrictive cardiomyopathy, Ascites, Portal vein hypoplasia OMIM:619433
Triploidy
Hepatomegaly, Hypoplasia of penis, Hypospadias, Abnormality of the pancreas, Cryptorchidism, Abno... ORPHA:3376
Ehlers-Danlos Syndrome, Classic-Like
Ambiguous genitalia, female, Quadricuspid aortic valve, Bicornuate uterus, Mitral valve prolapse OMIM:606408
Microphthalmia, Syndromic 8
Microphthalmia, Cryptorchidism OMIM:601349
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, ... ORPHA:79240
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Pierpont Syndrome
Microphthalmia, Cryptorchidism ORPHA:487825
Isolated Thyroid-Stimulating Hormone Deficiency
Pituitary hypothyroidism, Prolonged neonatal jaundice, Macroorchidism, Thyroid hypoplasia, Increa... ORPHA:90674
Prune Belly Syndrome
Ventricular septal defect, Cryptorchidism, Decreased fertility, Abnormality of the uterus, Atrial... ORPHA:2970
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Uterus didelphys ORPHA:2491
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Ascites OMIM:253250
Trisomy 13
Anophthalmia, Ventricular septal defect, Displacement of the urethral meatus, Cryptorchidism, Apl... ORPHA:3378
Trisomy 20P
Macroorchidism, Cryptorchidism, Hypospadias ORPHA:261318
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Hypospadias, Abnormal pulmonary valve morphology, Cryptorchidism, Abnormal aortic v... ORPHA:1194
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Lipodystrophy, Familial Partial, Type 3
Primary amenorrhea, Polycystic ovaries, Oligomenorrhea, Cirrhosis, Hepatic steatosis OMIM:604367
Pierpont Syndrome
Microphthalmia, Micropenis, Cryptorchidism OMIM:602342
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Hepatic failure, Hepatic steatosis OMIM:617872
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure ORPHA:75234
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle ORPHA:721
Distal Deletion 10P
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries ORPHA:1580
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, H... OMIM:602782
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic steatosis OMIM:612526
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism OMIM:618958
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Teebi Hypertelorism Syndrome 1
Ventricular septal defect, Hydrocele testis, Bicornuate uterus, Shawl scrotum, Atrial septal defect OMIM:145420
Donohue Syndrome
Precocious puberty, Long penis, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic islet-cel... OMIM:246200
Nanophthalmos
Microphthalmia ORPHA:35612
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... OMIM:613812
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis OMIM:105200
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th... ORPHA:158057
Gracile Bone Dysplasia
Asplenia, Micropenis, Aniridia, Microphthalmia, Hypoplastic spleen, Ascites OMIM:602361
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly ORPHA:2204
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Polycystic ovaries, Cardiomyopathy, Cirrhosis, Hepatic steatosis ORPHA:79086
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Omodysplasia 2
Dyspareunia, Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasi... OMIM:164745
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Microphthalmia, Vaginal atresia, Optic nerve hypoplasia OMIM:617914
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Ventricular septal defect, Splenomegaly, Leukopenia, Lymphopenia OMIM:620210
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Hypertrophic cardiomyopathy, Hepatomegaly OMIM:619053
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Enlarged polycystic ovaries, Adenoma sebaceum, ... ORPHA:201
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula... OMIM:300280
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:278000
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis, Hypertrophic cardiomyop... OMIM:201475
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Primary amenorrhea ORPHA:247768
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Cryptorchidism, Microp... ORPHA:77298
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver... OMIM:615415
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thr... ORPHA:398124
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Elevated circulating... ORPHA:90793
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Malformation of the hepatic ductal plate... OMIM:208540
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged polycysti... ORPHA:744
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Secondary amenorrhea, Polycystic o... OMIM:268020
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia OMIM:618107
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreas... OMIM:269700
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Atrial septal defect, Micro... OMIM:618494
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Decreased liver function, Hepatic stea... ORPHA:42
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Mogs-Cdg
Hepatomegaly, Atrial septal defect, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly... ORPHA:79330
Fanconi Anemia, Complementation Group G
Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia OMIM:614082
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:79312
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Male infertility, Premature ovarian insufficiency, D... ORPHA:79239
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis OMIM:300635
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Biliary tract abnormality, Membranous subvalvular aortic stenosis, Subvalvular ao... ORPHA:3191
Propionic Acidemia
Hepatomegaly, Cardiomyopathy ORPHA:35
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... OMIM:602450
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites ORPHA:2414
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Galactose Mutarotase Deficiency
Hepatomegaly, Decreased liver function, Cholestasis ORPHA:570422
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Decreased fertility in females, ... OMIM:608594
Galactosemia I
Hemolytic anemia, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ... OMIM:230400
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Microphthalmia, Tetralogy of Fallot, Ventricular hypertrophy OMIM:300887
Hydrolethalus
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology ORPHA:2189
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Iron deficiency anemia, Ova... OMIM:175200
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Hypospadias, Cryptorchidism, Abnormal heart morphology, Microphthalmia ORPHA:494344
Pagod Syndrome
Situs inversus totalis, Abnormality of the spleen, Agonadism, Hypoplastic left heart, Abnormality... ORPHA:991
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:48431
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ... OMIM:609981
Estrogen Resistance
Hypoplasia of the uterus, Breast aplasia, Primary amenorrhea, Polycystic ovaries OMIM:615363
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Cholestasis, Anemia, Perimembranous ventricular septal defect, Decr... OMIM:608104
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Fanconi Anemia, Complementation Group S
Microphthalmia, Ovarian carcinoma, Anemia, Ovarian neoplasm OMIM:617883
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Nanophthalmos 4
Microphthalmia OMIM:615972
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Kapur-Toriello Syndrome
Hypoplasia of penis, Ventricular septal defect, Hypoplastic labia majora, Microphthalmia, Tetralo... ORPHA:2328
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly ORPHA:99931
Denys-Drash Syndrome
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... OMIM:194080
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Leukemia, Ventricular septal defect OMIM:602501
Bresek Syndrome
Decreased testicular size, Microphthalmia, Optic nerve hypoplasia, Cryptorchidism ORPHA:85284
Meckel Syndrome 14
Hepatic fibrosis, Aplasia of the uterus, Ambiguous genitalia, Microphthalmia, Single ventricle OMIM:619879
Central Precocious Puberty In Male
Pituitary microadenoma, Abnormality of the testis size, Precocious puberty in males ORPHA:649929
Hand-Foot-Genital Syndrome
Bicornuate uterus, Ventricular septal defect, Abnormality of the uterus, Hypospadias ORPHA:2438
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ... ORPHA:1772
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia OMIM:613101
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure OMIM:618549
Kapur-Toriello Syndrome
Ventricular septal defect, Cryptorchidism, Hypoplastic labia majora, Atrial septal defect, Microp... OMIM:244300
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia, Primary amenorrhea OMIM:191830
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... ORPHA:905
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly OMIM:614702
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Abnormal heart morpholog... OMIM:214110
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Fanconi Anemia, Complementation Group E
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Abnormal heart m... OMIM:600901
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... OMIM:613011
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Cryptorchidism, Micropenis, Microphthalmia, Aortic valve stenosis OMIM:243310
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:1135
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Bangstad Syndrome
Abnormality of the parathyroid gland, Abnormal testis morphology, Polycystic ovaries ORPHA:1227
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Myofiber di... OMIM:619424
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Fryns Syndrome
Hypospadias, Cryptorchidism, Abnormal cardiac septum morphology, Bicornuate uterus, Microphthalmi... ORPHA:2059
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Ventricular septal defect, Polycystic ovaries ORPHA:1770
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis ORPHA:60
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia... OMIM:227650
Adams-Oliver Syndrome 6
Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fibrosis, Truncus arteriosus OMIM:616589
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Elevated circulating alanine aminotr... OMIM:615381
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah... OMIM:607765
Bardet-Biedl Syndrome 1
Decreased testicular size, Biliary tract abnormality, Hepatic fibrosis, Hypogonadism, Vaginal atr... OMIM:209900
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Hypospadias, Ovotestis, Hypoplasia of the uterus, Ch... OMIM:309801
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Meckel Syndrome, Type 4
Atrial septal defect, Microphthalmia, Ventricular septal defect, Bile duct proliferation OMIM:611134
Microsporidiosis
Cholangitis, Abnormality of the spleen, Lymphadenitis, Peritonitis, Biliary tract abnormality, He... ORPHA:2552
Fanconi Anemia
Leukopenia, Abnormality of the liver, Abnormality of the uterus, Atrial septal defect, Hypospadia... ORPHA:84
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hydrocele testis, Hepatomegaly, Hypertrophic cardiomyopathy, Micropenis OMIM:618810
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Microphthalmia, Small scrotum, Cryptorchidism ORPHA:2728
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... ORPHA:96191
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Satoyoshi Syndrome
Hypoplasia of the uterus, Amenorrhea OMIM:600705
Meckel Syndrome
Accessory spleen, Anophthalmia, Pancreatic fibrosis, True hermaphroditism, Asplenia, Congenital h... ORPHA:564
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:261534
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland ORPHA:2969
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Ritscher-Schinzel Syndrome 3
Microphthalmia, Atrioventricular canal defect, Cryptorchidism OMIM:619135
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Cholestasis, Hepatic fibrosis, Hepatic fai... OMIM:615630
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cryptorchidism, Microphthalmia, Ventricular septal defect, Abnormal heart morphology ORPHA:404440
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Impotence, Cardiomegaly OMIM:268800
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Abdominal adhesions, Neutropenia, Microphthalmia, Lymphopenia OMIM:616395
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa... ORPHA:829
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert... ORPHA:57777
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly, Elevated hepatic transaminase OMIM:306000
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Pericarditis, Lymphadenopathy ORPHA:85414
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Dilated cardiomyopathy, Hepatos... ORPHA:367
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Polycystic ovaries, Hypertrophic ... ORPHA:280365
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... OMIM:209950
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Aspartylglucosaminuria
Splenomegaly, Hepatomegaly, Macroorchidism ORPHA:93
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Lymphopenia OMIM:605309
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:2547
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He... OMIM:235555
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale... OMIM:614582
Warburg Micro Syndrome 4
Small scrotum, Cryptorchidism, Microphthalmia, Micropenis, Decreased testicular size OMIM:615663
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... OMIM:619232
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph... OMIM:235255
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... OMIM:308240
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... OMIM:614921
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hyper... OMIM:617713
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia OMIM:613153
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Cardiomyopathy OMIM:613155
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice OMIM:618892
Pigmented Nodular Adrenocortical Disease, Primary, 2
Ovarian cyst, Pancreatitis OMIM:610475
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia... OMIM:610125
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, Abnormal heart morp... ORPHA:2237
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Thrombocytopenia, Cryptorchidism, Leukopen... OMIM:603467
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Cardiomegaly, Hypertrophic cardiomyopathy, Micropenis, As... OMIM:616897
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Small scrotum, Hypogonadism, Cryptorchidism ORPHA:228390
Attrv122I Amyloidosis
Cardiomegaly, Cardiac amyloidosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Res... ORPHA:85451
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Cryptorchidism, Hypoplasia of the iris, Subvalvular aortic stenosis, A... OMIM:613001
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Absent vas deferens, Hypospadias, Jaundice, Aplasia/Hypoplasia of ... ORPHA:93111
Donnai-Barrow Syndrome
Hypoplasia of the iris, Bicornuate uterus, Ventricular septal defect OMIM:222448
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Complete atrioventricular canal defect, Uterus didelphys, Mic... OMIM:617925
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Primary amenorrhea, Aplasia of the vagina, Aplasia of the fallopian ... OMIM:158330
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Alg9-Cdg
Hepatomegaly, Ventricular septal defect, Pericardial effusion, Abnormal heart morphology, Right v... ORPHA:79328
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Polycystic ovaries, Microphthalmia, Congen... ORPHA:137675
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardial effusion, ... ORPHA:77259
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Hydrolethalus Syndrome 1
Accessory spleen, Ventricular septal defect, Hypospadias, Bifid uterus, Complete atrioventricular... OMIM:236680
Refsum Disease
Splenomegaly, Microphthalmia, Cardiomyopathy ORPHA:773
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Hepatomegaly, Hypogonadism, Decreased testicular size OMIM:201100
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Cryptorchidism OMIM:214150
Galactokinase Deficiency
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hepatosplenomegaly ORPHA:79237
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis... ORPHA:251066
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Ascites, Anemia ORPHA:75233
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Cryptorchidism, Bilateral microphthalmos, Abnormal heart morphology, P... ORPHA:369891
Pseudo-Torch Syndrome 3
Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Hypoplasia of penis, Cryptorchidism, Leukocytosis, Lymphadenopathy, A... ORPHA:99812
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, T... OMIM:620005
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
Marden-Walker Syndrome
Hypospadias, Dextrocardia, Cryptorchidism, Microphthalmia, Micropenis OMIM:248700
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Mitral valve prolapse, Pol... ORPHA:371428
Beaulieu-Boycott-Innes Syndrome
Premature ovarian insufficiency, Ventricular septal defect, Endometriosis OMIM:613680
Moebius Syndrome
Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size OMIM:157900
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, As... OMIM:614034
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri... ORPHA:822
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis OMIM:605479
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Cardiomyopathy, Pancreatitis, Thrombocytopenia ORPHA:27
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... ORPHA:3226
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Micropenis, Small scrotum OMIM:610756
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Optic nerve hypoplasia, Decreased response to growth hormone stimulati... OMIM:609053
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... OMIM:612714
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly ORPHA:56425
Warburg Micro Syndrome 3
Small scrotum, Hypoplastic labia minora, Microphthalmia, Micropenis, Decreased testicular size OMIM:614222
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly ORPHA:349
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Ventricular septal defect, Hypospadias, Cryptorchidism,... OMIM:229850
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... ORPHA:381
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Isosexual precocious puberty ORPHA:2788
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Hypospadias, Endometriosis, Muscular ventricular septal defect, ... ORPHA:363444
Adams-Oliver Syndrome
Abnormal pulmonary valve morphology, Portal hypertension, Congenital hepatic fibrosis, Tetralogy ... ORPHA:974
Okamoto Syndrome
Ventricular septal defect, Abnormally large globe, Bifid uterus, Splenomegaly, Abnormal left vent... ORPHA:2729
Jacobsen Syndrome
Ventricular septal defect, Hypospadias, Cryptorchidism, Clitoral hypoplasia, Macular hypoplasia, ... OMIM:147791
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Aspartylglucosaminuria
Macroorchidism, Hepatomegaly, Vacuolated lymphocytes, Neutropenia OMIM:208400
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Septate vagina, Valvular pulmonary stenosis, Bicornuate uterus, Rectovagin... OMIM:300707
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulo... OMIM:227645
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous genitalia, femal... ORPHA:90795
Seckel Syndrome 2
Microphthalmia, Hypospadias OMIM:606744
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... OMIM:130650
Warburg Micro Syndrome 2
Small scrotum, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis OMIM:614225
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, Cryptorchidism ORPHA:139471
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Lymphopenia, Varicocele, Goiter OMIM:158350
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Abnormality of the lymphatic system, Ovarian serous cystadenoma, Enlarged kidney ORPHA:276280
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... ORPHA:168558
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Abnormal cardiac septum morphology, Tetralogy of Fallot, Thrombocytopenia ORPHA:3320
Dubin-Johnson Syndrome
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:234
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:603909
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Primary testicular failure, Abnormal lymph node morphology, Lymph... ORPHA:85450
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... OMIM:146255
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Mcleod Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple... OMIM:300842
Adams-Oliver Syndrome 5
Portal vein thrombosis, Splenomegaly, Hypersplenism, Right ventricular hypertrophy, Pulmonic sten... OMIM:616028
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl... ORPHA:231214
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Hypospadias, Biliary tract abnormality, Hypoplasia of the uterus, ... OMIM:137920
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... ORPHA:289548
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:99330
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy ORPHA:3386
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Hypospadias, Cryptorchidism, Abnormality of the scrotum, Microphthalmia ORPHA:2505
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Hepatic failure, ... OMIM:608013
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia, Vaginal atresia, Cryptorchidism ORPHA:3301
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Macroorchidism OMIM:619950
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate OMIM:607361
Fanconi Anemia, Complementation Group J
Microphthalmia, Bone marrow hypocellularity OMIM:609054
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Thrombocytopenia, Cryptorchidism, Reticulocytopenia... OMIM:227646
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... ORPHA:30391
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Macrophage Activation Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Thrombocytopenia, Sp... ORPHA:158061
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Pericarditis, ... OMIM:619487
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Hypospadias, Asplenia, ... OMIM:265380
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Ventricular septal defect, Atrial septal defect, Microphthalmia, Clitoral hypertrophy OMIM:616449
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... OMIM:618278
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Anophthalmia, Abnormality of the spleen, Perineal fistula, Rectovaginal fistula, At... ORPHA:2538
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Ventricular septal defect, Supernumerary nipple, Cryptorchidism OMIM:612530
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma OMIM:617100
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy OMIM:252900
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Pulmonic stenosis, Left ve... OMIM:619148
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Mitral atresia, Abnormal cardiac septum morphology, Bicornuate uterus, Labial hypoplasia, Clitora... ORPHA:140952
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst ORPHA:454840
Cowden Syndrome 6
Hydrocele testis, Ovarian cyst, Varicocele, Goiter OMIM:615109
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... ORPHA:322
Developmental And Epileptic Encephalopathy 95
Cryptorchidism, Hepatomegaly, Cardiomegaly OMIM:618143
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Thrombocy... OMIM:230800
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Meckel Syndrome, Type 5
Microphthalmia, Bile duct proliferation OMIM:611561
Micro Syndrome
Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Clitoral hypoplasia, Microphthalmia ORPHA:2510
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure ORPHA:664
Cowden Syndrome 5
Hydrocele testis, Ovarian cyst, Goiter OMIM:615108
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Labial pseudohypertrophy, Polycystic ovaries, Hepatic steatosis OMIM:151660
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Hyperparathyroidism, Transient Neonatal
Ovarian cyst, Hyperparathyroidism, Enlarged kidney, Splenic cyst OMIM:618188
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Eryt... OMIM:612541
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly, Anemia OMIM:620296
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Frontonasal Dysplasia 1
Microphthalmia, Tetralogy of Fallot OMIM:136760
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:608836
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Meckel Syndrome, Type 1
Accessory spleen, External genital hypoplasia, Malformation of the hepatic ductal plate, Asplenia... OMIM:249000
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypop... OMIM:618419
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
17Q12 Microduplication Syndrome
Atrial septal defect, Microphthalmia ORPHA:261272
Schinzel-Giedion Midface Retraction Syndrome
Atrial septal defect, Small scrotum, Hypospadias, Hypoplastic labia minora, Splenopancreatic fusi... OMIM:269150
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly OMIM:266500
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Fraser Syndrome 1
Anophthalmia, Hypospadias, Cryptorchidism, Bilateral microphthalmos, Abnormal heart morphology, A... OMIM:219000
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Oculoskeletodental Syndrome
Splenomegaly, Hepatomegaly, Cryptorchidism OMIM:618440
Hand-Foot-Genital Syndrome
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis OMIM:140000
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Microphthalmia, Micropenis... OMIM:241410
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Ventricular septal defect ORPHA:85194
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Hepatomegaly, Ambiguous genitalia, Small scrotum, Ventricular septal defect, Hypos... OMIM:270400
Kaposiform Lymphangiomatosis
Metrorrhagia, Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormality of the lymphatic ... ORPHA:464329
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Dilated c... OMIM:615895
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Ventricular septal defect, Microvesicular hepatic steatosis, Sple... OMIM:619418
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Anterior pi... OMIM:206900
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Martsolf Syndrome 1
Hypogonadotropic hypogonadism, Cryptorchidism, Cardiomyopathy, Microphthalmia, Micropenis OMIM:212720
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric... ORPHA:781
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Vaginal atresia OMIM:248450
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Bicornuate uterus,... OMIM:263650
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocyt... ORPHA:169090
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Left ven... ORPHA:308552
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... ORPHA:2137
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly OMIM:619259
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Iron deficiency ane... ORPHA:1667
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Luscan-Lumish Syndrome
Irregular menstruation, Polycystic ovaries OMIM:616831
Ulnar-Mammary Syndrome
Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Decreased fertility, Breast aplas... ORPHA:3138
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Adrenal gland agenesis, Mi... OMIM:273395
Short Syndrome
Ovarian cyst, Rieger anomaly OMIM:269880
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Meckel Syndrome, Type 2
Microphthalmia, Bile duct proliferation OMIM:603194
Cat Eye Syndrome
Ventricular septal defect, Biliary atresia, Hypoplastic left heart, Total anomalous pulmonary ven... OMIM:115470
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Hepatic calcification, Cardiomyopathy, Abnormal myocardium morphology... ORPHA:228308
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration... OMIM:619991
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Mosaic Trisomy 1
Hepatic agenesis, Ventricular septal defect, Microphthalmia, Micropenis, Penile hypospadias ORPHA:1692
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Microphthalmia, Microcytic anemia OMIM:612379
Transketolase Deficiency
Hepatomegaly, Ventricular septal defect, Secondary amenorrhea, Abnormal heart morphology, Atrial ... ORPHA:488618
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia, Unilateral cryptorchidism OMIM:206920
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly OMIM:617022
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... ORPHA:3464
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Glycogen Storage Disease Ii
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:232300
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Abnormal cardiac septum morphology, Ambiguous g... ORPHA:2166
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland OMIM:614402
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis OMIM:249100
Acro-Renal-Mandibular Syndrome
Bicornuate uterus, Uterus didelphys ORPHA:958
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Chromosome 17Q12 Deletion Syndrome
Elevated hepatic transaminase, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of th... OMIM:614527
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Sandestig-Stefanova Syndrome
Microphthalmia, Muscular ventricular septal defect, Perimembranous ventricular septal defect OMIM:618804
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circul... OMIM:300972
Duplication Of Urethra
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... ORPHA:237
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... OMIM:618820
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:616100
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Buphth... OMIM:610199
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Interstitial cardiac fibrosis, Hypertrophic cardiomyopathy... ORPHA:75249
Cohen Syndrome
Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Neutropenia, Microphthalmia ORPHA:193
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly OMIM:620306
Temtamy Syndrome
Microphthalmia ORPHA:1777
Walker-Warburg Syndrome
Microphthalmia, Hypoplasia of penis, Anophthalmia, Cryptorchidism ORPHA:899
Syndromic Diarrhea
Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Increased m... ORPHA:84064
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Patent foramen ovale, Pulmonic stenosis OMIM:618914
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Vacterl With Hydrocephalus
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology ORPHA:3412
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hepatic cysts OMIM:613095
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis, Irregular menstruation OMIM:615238
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Lissencephaly 8
Microphthalmia OMIM:617255
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, H... OMIM:241080
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test OMIM:615866
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... OMIM:611881
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Anophthalmia, Hypospadias, Epispadias, Male pseudohermaphroditism, Dil... ORPHA:2556
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Braddock-Carey Syndrome 2
Microphthalmia, Thrombocytopenia OMIM:619981
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Impotence, Cardiomegaly OMIM:105210
Infantile Systemic Hyalinosis
Aplasia/Hypoplasia of the thymus, Polycystic ovaries ORPHA:2176
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Orofaciodigital Syndrome I
Pancreatic cysts, Abnormal heart morphology, Ovarian cyst, Hepatic fibrosis, Hepatic cysts OMIM:311200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Chronic neutropenia, Irregular menstruation, Hepatocellular adenoma, Enlarged kidne... ORPHA:79259
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Hypospadias, Male urethral meatus stenosis, Atrial septal defect, Micr... ORPHA:464738
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... ORPHA:331206
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Hypoplastic left heart, P... OMIM:100300
Trichohepatoenteric Syndrome 1
Hepatomegaly, Ventricular septal defect, Hypospadias, Increased mean platelet volume, Abnormality... OMIM:222470
Trisomy 18
Ventricular septal defect, Cryptorchidism, Atrial septal defect, Microphthalmia, Abnormal morphol... ORPHA:3380
Steinfeld Syndrome
Microphthalmia, Abnormal heart morphology, Absent gallbladder OMIM:184705
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Optic nerve hypoplasia, Cardiomyopathy ORPHA:370959
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Familial Aortic Dissection
Cardiomegaly ORPHA:229
1Q21.1 Microdeletion Syndrome
Microphthalmia, Abnormal cardiac septum morphology, Cryptorchidism ORPHA:250989
Fucosidosis
Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly OMIM:230000
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Cardiomegaly OMIM:614473
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogonadism, Mic... ORPHA:2250
Stevenson-Carey Syndrome
Atrial septal defect, Microphthalmia OMIM:611961
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Thrombocytopeni... OMIM:214500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Abnormality of neutrophils, Thrombocytopenia, Splenomegal... ORPHA:1775
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology... ORPHA:2162
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus ORPHA:1521
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Neu-Laxova Syndrome 1
Ventricular septal defect, Bifid uterus, Cryptorchidism, Transposition of the great arteries, Mic... OMIM:256520
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly... OMIM:257220
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Aplasia of the uterus, Microphthalmia, Micropenis, Anemia OMIM:614083
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Ventricular septal defect, Abnormality of the tonsils, Abnormal pulmonary val... ORPHA:567
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... ORPHA:171
Mosaic Variegated Aneuploidy Syndrome
Ambiguous genitalia, Vaginal neoplasm, Acute lymphoblastic leukemia, Subvalvular aortic stenosis,... ORPHA:1052
Lymphatic Malformation 6
Splenomegaly, Hydrocele testis, Atrial septal defect, Intestinal lymphangiectasia, Ascites OMIM:616843
Brucellosis
Hepatomegaly, Pericarditis, Liver abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenom... ORPHA:1304
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Digeorge Syndrome
Ventricular septal defect, Parathyroid agenesis, Thrombocytopenia, Splenomegaly, Parathyroid hypo... OMIM:188400
Pallister-Hall Syndrome
Thyroid dysgenesis, Ventricular septal defect, Decreased response to growth hormone stimulation t... OMIM:146510
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... ORPHA:309854
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Ventricular septal defect, Decreased fertility OMIM:234050
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anem... OMIM:274000
3P25.3 Microdeletion Syndrome
Atrial septal defect, Microphthalmia, Ventricular septal defect, Pulmonic stenosis ORPHA:435638
8Q21.11 Microdeletion Syndrome
Microphthalmia, Hypoplasia of penis, Cryptorchidism ORPHA:284160
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Microphthalmia OMIM:614526
Joubert Syndrome 22
Microphthalmia OMIM:615665
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Mitral valve prolapse, Cervical insufficiency, Uterine rupture, Uterin... OMIM:130050
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr... ORPHA:1677
3Q29 Microdeletion Syndrome
Microphthalmia, Hypospadias, Subvalvular aortic stenosis ORPHA:65286
Rhombencephalosynapsis
Septo-optic dysplasia, Abnormality of the uterus ORPHA:59315
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Fraser Syndrome
Hypoplasia of penis, Anophthalmia, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus,... ORPHA:2052
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy, Abnormal myocar... ORPHA:32960
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Microphthalmia, Lenz Type
Microphthalmia, Hypospadias, Cryptorchidism ORPHA:568
Neuroendocrine Neoplasm Of Appendix
Elevated hepatic transaminase, Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadeno... ORPHA:100079
Oculofaciocardiodental Syndrome
Microphthalmia, Abnormal cardiac septum morphology, Mitral valve prolapse ORPHA:2712
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Pericard... ORPHA:77261
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Splenomegaly, Hydrometrocolpos, Atrioventricular canal defect, Vaginal atresia OMIM:617088
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Micropenis, Cryptorchidism OMIM:614230
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... ORPHA:90794
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Renal Agenesis
Absent vas deferens, Ventricular septal defect, Aplasia/hypoplasia of the uterus ORPHA:411709
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Microphthalmia, Ventricular septal defect, Cryptorchidism ORPHA:251014
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Basal Cell Nevus Syndrome 1
Ovarian fibroma, Cardiac fibroma, Cardiac rhabdomyoma, Ovarian carcinoma, Microphthalmia OMIM:109400
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Ventricular septal defect, Hypospadias, Enlarged labia minora, Cryptorchidism, ... OMIM:268300
Ohdo Syndrome, X-Linked
Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis OMIM:300895
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Abnormally large globe, Mitral valve p... OMIM:245600
Heart And Brain Malformation Syndrome
Microphthalmia, Ventricular septal defect OMIM:616920
Bosma Arhinia Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Primary amenorrhea, Hypoplastic labia... OMIM:603457
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Abnormal pancreas morphology, Pseudohyp... ORPHA:116
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Hepat... ORPHA:14
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hepatic failure... OMIM:276700
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Ventricular septal defect, Cryptorchidism, Microphthalmia, Annular pancreas, Patent ... OMIM:616975
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... OMIM:300967
Degcags Syndrome
Hepatomegaly, Pancytopenia, Ambiguous genitalia, Ventricular septal defect, Hypospadias, Congenit... OMIM:619488
Microphthalmia, Syndromic 2
Anophthalmia, Ventricular septal defect, Dextrocardia, Hypospadias, Septate vagina, Cryptorchidis... OMIM:300166
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Microphthalmia, Dilated cardiomyopathy, Thyroid C cell hyperplasia OMIM:300952
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Hydrocele testis, Hypoplastic nipples, Prolonged neonatal j... OMIM:620186
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Abnormal heart morphology OMIM:618571
Mend Syndrome
Cryptorchidism, Microphthalmia, Aortic valve stenosis, Abnormal heart morphology ORPHA:401973
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Fetal Alcohol Syndrome
Atrial septal defect, Microphthalmia ORPHA:1915
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Enlarged kidney OMIM:200995
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Optic nerve hypoplasia, Truncus arteriosus, Ventricular septal defect, Hyp... ORPHA:508498
Cockayne Syndrome B
Hepatomegaly, Splenomegaly, Cryptorchidism, Hypoplasia of the iris, Microphthalmia, Micropenis OMIM:133540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos... OMIM:253800
Acrorenal-Mandibular Syndrome
Unicornuate uterus, Bicornuate uterus, Uterus didelphys, Absent nipple OMIM:200980
Solitary Median Maxillary Central Incisor
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... OMIM:147250
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Microphthalmia, Micropenis, Pate... OMIM:613884
Fibrous Dysplasia Of Bone
Precocious puberty in females, Testicular neoplasm, Elevated circulating growth hormone concentra... ORPHA:249
Pearson Syndrome
Hypoparathyroidism, Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Decreased r... ORPHA:699
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Microphthalmia OMIM:613451
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos, Abnormal heart morphology OMIM:610758
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Adenoiditis, Splenomegaly, Recurrent tonsillitis, Abnormal aortic val... ORPHA:581
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Hepa... OMIM:232220
Ogden Syndrome
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... OMIM:300855
Familial Mediterranean Fever
Acute hepatic failure, Pericarditis, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Ascite... ORPHA:342
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormal thymus morphology, Cardiomegaly ORPHA:2463
Yunis-Varon Syndrome
Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Bilateral microphthalmos, H... ORPHA:3472
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Hypoplasia of the thymus, Rectovaginal fistul... ORPHA:861
Wolf-Hirschhorn Syndrome
Accessory spleen, Rieger anomaly, Ventricular septal defect, Hypospadias, Precocious puberty, Cry... OMIM:194190
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Ventricular septal defect, Mitral atresia, Portal hypertension, Fetal ascites, ... OMIM:619503
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Ventricular septal defect, Anterior pituitary hypopla... OMIM:181450
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Hepatosplenome... ORPHA:51
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Abnormal cardiomyocyte morphology, Cardiomyop... ORPHA:565612
Joubert Syndrome 14
Microphthalmia, Ventricular septal defect OMIM:614424
Monosomy 18P
Microphthalmia ORPHA:1598
Charge Syndrome
Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Abnormal morphology o... ORPHA:138
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Abnormal cardiac septum morphology ORPHA:1352
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Parotitis, Microcytic anemia, Cardiomegaly, Splenome... OMIM:256040
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib... ORPHA:731
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Waardenburg Syndrome
Abnormal vagina morphology, Abnormality of the uterus ORPHA:3440
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Abnormal pulmonary valve ... ORPHA:857
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Ventricular septal defect, Hypospadias, Bifid uterus, Crypt... OMIM:107480
Monosomy 9Q22.3
Microphthalmia, Ovarian fibroma, Cardiac fibroma ORPHA:77301
Phace Association
Microphthalmia, Ventricular septal defect, Optic nerve hypoplasia, Lingual thyroid OMIM:606519
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Ventricular septal defect, Optic nerve hypoplasia, Cryptorchidism, Aortopulmonary w... OMIM:620025
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Abnormal heart valve morphology, Autoimmune thrombocytopenia, Hypersplenism, Spleno... ORPHA:77293
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Rothmund-Thomson Syndrome, Type 2
Microphthalmia, Annular pancreas, Hypogonadism, Cryptorchidism OMIM:268400
Currarino Syndrome
Bicornuate uterus, Rectovaginal fistula, Septate vagina OMIM:176450
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Temtamy Syndrome
Microphthalmia OMIM:218340
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Microphthalmia, Anophthalmia, Hypospadias OMIM:615877
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Fanconi Anemia, Complementation Group R
Microphthalmia, Bone marrow hypocellularity, Anemia OMIM:617244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Cryptorchidism, Buphthalmos, Hypoplastic male external genitalia, Microph... OMIM:236670
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Premature ovarian insufficiency, Bicuspid aortic valve, Female inf... ORPHA:99413
Mosaic Monosomy X
Elevated hepatic transaminase, Premature ovarian insufficiency, Bicuspid aortic valve, Female inf... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Premature ovarian insufficiency, Bicuspid aortic valve, Female inf... ORPHA:99226
Turner Syndrome
Elevated hepatic transaminase, Premature ovarian insufficiency, Bicuspid aortic valve, Female inf... ORPHA:881
Cystic Fibrosis
Male infertility, Hepatomegaly, Cor pulmonale, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, ... OMIM:219700
Johanson-Blizzard Syndrome
Hepatic fibrosis, Atrial septal defect, Micropenis, Hepatomegaly, Hypospadias, Elevated circulati... OMIM:243800
Charge Syndrome
Anophthalmia, Decreased response to growth hormone stimulation test, External genital hypoplasia,... OMIM:214800
Dubowitz Syndrome
Aplastic anemia, Hypospadias, Cryptorchidism, Hypoplasia of the iris, Acute lymphoblastic leukemi... OMIM:223370
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... ORPHA:97278
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Norrie Disease
Aplasia/Hypoplasia of the lens, Cryptorchidism, Hypoplasia of the iris, Erectile dysfunction, Ute... ORPHA:649
Trichothiodystrophy
Ventricular septal defect, Cryptorchidism, Bilateral microphthalmos, Increased mean corpuscular h... ORPHA:33364
Fraser Syndrome 2
Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus OMIM:617666
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypospadias, Cryptorchidism, Clitoral hypoplasia, Total anomalous pulmonary venous... OMIM:609945
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Supernumerary nipple OMIM:620098
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Hypogonadism OMIM:610651
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia, Ventricular septal defect ORPHA:251038
Acrofacial Dysostosis 1, Nager Type
Tetralogy of Fallot, Ventricular septal defect, Bicornuate uterus OMIM:154400
Pallister-Hall Syndrome
Small scrotum, Gonadotropin deficiency, Atrial septal defect, Micropenis, Atrioventricular canal ... ORPHA:672
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla... ORPHA:97261
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney OMIM:252500
Hallermann-Streiff Syndrome
Microphthalmia, Abdominal situs inversus, Cryptorchidism ORPHA:2108
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... OMIM:201750
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse, Ventricular septal defect OMIM:123700
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Menorrhagia, Thro... OMIM:153670
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Hypogonadism OMIM:601675
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Overriding aorta, Tetralogy of Fallot, Absent gallbladder ORPHA:3186
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Thrombocytopenia, Cervi... ORPHA:50918
Phace Syndrome
Optic nerve hypoplasia, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol... ORPHA:42775
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Cousin Syndrome
Microphthalmia, Ambiguous genitalia, female, Ambiguous genitalia, male OMIM:260660
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Ambiguous genitalia, Microphthalmia, Cryptorchidism OMIM:616300
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Abnormal cardiac septum morphology, Cardiomegaly ORPHA:97297
Holoprosencephaly 9
Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth... OMIM:610829
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Limb-Mammary Syndrome
Absent nipple, Primary amenorrhea, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nippl... ORPHA:69085
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Congenital hepatic fibrosis, Cryptorchidism, Uterus ... ORPHA:93271
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... ORPHA:97283
Roberts Syndrome
Thrombocytopenia, Cryptorchidism, Long penis, Microphthalmia, Clitoral hypertrophy ORPHA:3103
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... ORPHA:75565
Joubert Syndrome 2
Microphthalmia, Hypoplastic male external genitalia OMIM:608091
Fontaine Progeroid Syndrome
Atrial septal defect, Small scrotum, Bicuspid aortic valve, Absent nipple, Cryptorchidism, Abnorm... OMIM:612289
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus ORPHA:457284
Renpenning Syndrome 1
Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, Atrial septal defect, M... OMIM:309500
Peters-Plus Syndrome
Hypoplasia of the vagina, Ventricular septal defect, Bilobate gallbladder, Hypospadias, Cryptorch... OMIM:261540
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cardiomyopathy, Microphthalmia ORPHA:90324
Hyperlipoproteinemia, Type Id
Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis OMIM:615947
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Focal Dermal Hypoplasia
Acute hepatic failure, Ventricular septal defect, Hypoplasia of the iris, Abnormal cardiac septum... ORPHA:2092
Stromme Syndrome
Accessory spleen, Microphthalmia, Optic nerve hypoplasia OMIM:243605
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Treacher Collins Syndrome 1
Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology, Abnormal heart morph... OMIM:154500
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Left ven... ORPHA:365
Atelis Syndrome 2
Supravalvar pulmonary stenosis, Anemia, Pulmonic stenosis, Microphthalmia, Thrombocytopenia OMIM:620185
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Hypospadias, Cryptorchidism, Aplasia/Hypoplasia of the fallopian tube,... ORPHA:96121
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Cryptorchidism, Atrial septal defect, Microphtha... OMIM:139210
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Bilateral microphthalmos ORPHA:2839
Peters Plus Syndrome
Hypospadias, Cryptorchidism, Bicuspid pulmonary valve, Hypoplasia of the uterus, Clitoral hypopla... ORPHA:709
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Incontinentia Pigmenti
Hypoplasia of the fovea, Eosinophilia, Supernumerary nipple, Leukocytosis, Breast aplasia, Hypopl... OMIM:308300
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Hallermann-Streiff Syndrome
Microphthalmia, Cryptorchidism OMIM:234100
Duane-Radial Ray Syndrome
Atrial septal defect, Microphthalmia, Ventricular septal defect, Optic disc hypoplasia OMIM:607323
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia, Hypoplastic nipples OMIM:156610
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Uterine prolapse, Bicuspid aortic valve, Ventricular septal defect, Precocious puberty, Cryptorch... ORPHA:438213
Cockayne Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cryptorchidism, Microphthalmia ORPHA:191
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:2399
Monosomy 9P
Ambiguous genitalia, Microphthalmia, Hypospadias, Cryptorchidism ORPHA:261112
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Reynolds Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas... OMIM:613471
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Aicardi Syndrome
Hepatoblastoma, Microphthalmia, Precocious puberty ORPHA:50
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Rodrigues Blindness
Microphthalmia OMIM:268320
Autosomal Dominant Kenny-Caffey Syndrome
Congenital hypoparathyroidism, Bilateral microphthalmos, Decreased testicular size, Anemia ORPHA:93325
Williams Syndrome
Abnormal endocardium morphology, Hypoplasia of penis, Overriding aorta, Bicuspid aortic valve, Ve... ORPHA:904
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Lymphedema-Distichiasis Syndrome
Microphthalmia, Tetralogy of Fallot, Ventricular septal defect OMIM:153400
Frontorhiny
Microphthalmia, Hypopituitarism ORPHA:391474
Teebi-Shaltout Syndrome
Microphthalmia, Aortic valve stenosis, Ventricular septal defect OMIM:272950
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Ectodermal Dysplasia And Immunodeficiency 2
Splenomegaly, Hepatomegaly, Aplasia of the sweat glands OMIM:612132
Alström Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Hepatic fi... ORPHA:64
Vascular Ehlers-Danlos Syndrome
Hypospadias, Abnormal heart valve morphology, Cryptorchidism, Cystocele, Mitral valve prolapse, U... ORPHA:286
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Small scrotum, Hypospadias, Cryptorchidism OMIM:616734
Aicardi Syndrome
Hepatoblastoma, Microphthalmia, Precocious puberty OMIM:304050
Mowat-Wilson Syndrome
Bifid scrotum, Ventricular septal defect, Hypospadias, Supernumerary nipple, Cryptorchidism, Abno... OMIM:235730
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Proboscis Lateralis
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, External genital hypoplasia, Mic... ORPHA:141099
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia, Cryptorchidism ORPHA:1106
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Abnormal salivary gland morphology, Bicornuate uterus, Lacrimal gland aplasia ORPHA:2363
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Thrombocytopenia, Cryptorchidism, Buphthalmos, Azoospermia, Microphthalmia, ... ORPHA:534
Incontinentia Pigmenti
Microphthalmia, Eosinophilia, Supernumerary nipple ORPHA:464
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Mycophenolate Mofetil Embryopathy
Microphthalmia, Ventricular septal defect ORPHA:268249
Coffin-Siris Syndrome 1
Ventricular septal defect, Hypospadias, Cryptorchidism, Aplasia of the uterus, Atrial septal defe... OMIM:135900
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Bicuspid aortic valve, Abnormal pulmonary valve morphology, Septate vagina, Webbed... ORPHA:261537
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalmos, Microphallus ORPHA:468631
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Supernumerary nipple ORPHA:1236
Cornelia De Lange Syndrome
Hypoplasia of penis, Ventricular septal defect, Hypospadias, Cryptorchidism, Phthisis bulbi, Prim... ORPHA:199
Holoprosencephaly 1
Microphthalmia, Micropenis, Single ventricle OMIM:236100
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Microphthalmia, Anemia OMIM:127000
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Atrial septal defect, Microphthalmia, Leukemia, Anophthalmia ORPHA:2526
Mowat-Wilson Syndrome
Bifid scrotum, Bicuspid aortic valve, Hypospadias, Septate vagina, Webbed penis, Asplenia, Crypto... ORPHA:2152
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Aneurysm-Osteoarthritis Syndrome
Left ventricular hypertrophy, Uterine prolapse, Pulmonic stenosis, Abnormal heart morphology ORPHA:284984
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Acro-Renal-Ocular Syndrome
Microphthalmia, Tetralogy of Fallot, Optic disc hypoplasia ORPHA:959
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia OMIM:251300
Oculodentodigital Dysplasia
Atrial septal defect, Microphthalmia OMIM:164200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Focal Dermal Hypoplasia
Anophthalmia, Supernumerary nipple, Cryptorchidism, Clitoral hypoplasia, Hypoplastic nipples, Lab... OMIM:305600
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphol... ORPHA:261552
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Papillorenal Syndrome
Microphthalmia OMIM:120330
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Optic nerve hypoplasia OMIM:614643
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Linear Nevus Sebaceus Syndrome
Microphthalmia, Adenoma sebaceum ORPHA:2612
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Ventricular septal defect, Optic nerve hypoplasia, Dysplastic aortic... ORPHA:508488
Branchiooculofacial Syndrome
Anophthalmia, Hypospadias, Supernumerary nipple, Cryptorchidism, Duplication of internal organs, ... OMIM:113620
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... OMIM:276820
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Ventricular septal defect, Ventricular septal hypertrophy OMIM:608670
Classical Ehlers-Danlos Syndrome
Uterine prolapse, Cervical insufficiency, Tricuspid valve prolapse, Mitral valve prolapse ORPHA:287
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Atrial septal defect, Uterine prolapse, Bicuspid aortic valve, Cystocele... OMIM:613795
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Hepatic calcification, Myocardial ca... ORPHA:51608
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi, Ventricular septal defect OMIM:259770
Oculoauricular Syndrome
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia OMIM:612109
Microphthalmia, Syndromic 6
Anophthalmia, Small scrotum, Female hypogonadism, Cryptorchidism, Microphthalmia, Anterior hypopi... OMIM:607932
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Muscular ventricular septal defect, Perimembranous ventricular septal defe... OMIM:612474
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Lowe Oculocerebrorenal Syndrome
Microphthalmia, Cryptorchidism OMIM:309000
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... OMIM:609049
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos, Panhypopituitarism OMIM:610828
Witteveen-Kolk Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Unilateral cryptorchidism, Ph... OMIM:613406
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Tetralogy of Fallot ORPHA:306542
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Pallister-Killian Syndrome
Small scrotum, Ventricular septal defect, Hypospadias, Supernumerary nipple, Cryptorchidism, Hypo... OMIM:601803
Holoprosencephaly 2
Microphthalmia, Anterior pituitary agenesis, Single ventricle OMIM:157170
Neuroocular Syndrome
Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Patent foramen ovale OMIM:619539
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Coffin-Lowry Syndrome
Uterine prolapse OMIM:303600
Isolated Arrhinia
Microphthalmia ORPHA:1134
Microphthalmia, Syndromic 1
Anophthalmia, Bicuspid aortic valve, Hypospadias, Cryptorchidism, Microphthalmia OMIM:309800
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... OMIM:182250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Monosomy 13Q14
Microphthalmia ORPHA:1587
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia, Hemolytic anemia OMIM:175780
Craniofacial Microsomia 1
Microphthalmia, Anophthalmia, Ventricular septal defect, Tetralogy of Fallot OMIM:164210

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.

There is no histopathology data for Gna15

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 Gna15.

No publications found that use IMPC mice or data for Gna15.

Order Mouse and ES Cells

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
Gna15tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gna15em1(IMPC)Mbp Exon Deletion Mice, Tissue
Gna15tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Gna15tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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