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Gene: Mark4 MGI:1920955

Gene Summary

Name:

MAP/microtubule affinity regulating kinase 4

Synonyms:

Markl1, 2410090P21Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal testis morphology	Mark4^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal eye morphology	Mark4^em1(IMPC)Mbp	HOM	Late adult	0.00
small testis	Mark4^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal skin morphology	Mark4^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal uterus morphology	Mark4^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal skin morphology	Mark4^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal spleen morphology	Mark4^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged spleen	Mark4^em1(IMPC)Mbp	HOM	Late adult	0.00
increased vertical activity	Mark4^em1(IMPC)Mbp	HOM	Early adult	1.38×10^-05
microphthalmia	Mark4^em1(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

27 Images

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X-ray

XRay Images Whole Body Dorso Ventral

39 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Histopathology

Images

1 Images

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Histopathology

Images

2 Images

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Human diseases caused by Mark4 mutations

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

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

Human diseases associated with Mark4 (0 diseases)
Human diseases predicted to be associated with Mark4 (840 diseases)

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

The table below shows human diseases predicted to be associated to Mark4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue...	ORPHA:71529
Schizophrenia 15	Hyperactivity	OMIM:613950
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo...	ORPHA:324575
Obesity Due To Prohormone Convertase I Deficiency	Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy...	ORPHA:71526
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Obesity, Hyperinsulinemia, Polyphagia, Aggressive behavior	ORPHA:329249
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoglycemic seizures, Agitation, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic islet h...	ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoglycemic seizures, Agitation, Hyperinsulinemia, Large for gestational age, Diffuse pancreatic...	ORPHA:276575
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Polyphagia, Obesity, Increased serum lept...	OMIM:617885
Hyperinsulinism Due To Ucp2 Deficiency	Hypoglycemic seizures, Agitation, Large for gestational age, Diffuse pancreatic islet hyperplasia...	ORPHA:276556
Type 1 Diabetes Mellitus	Polydipsia, Polyphagia, Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol ...	OMIM:222100
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Glucose intolerance	ORPHA:369873
Body Mass Index Quantitative Trait Locus 20	Obesity, Hyperinsulinemia, Polyphagia	OMIM:618406
Obesity And Hypopigmentation	Obesity, Hyperinsulinemia, Polyphagia	OMIM:620195
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,...	OMIM:240900
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t...	ORPHA:66628
Leptin Receptor Deficiency	Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,...	OMIM:614963
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t...	ORPHA:179494
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure...	ORPHA:99886
Insulinoma	Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Polyphagia, Primary hyper...	ORPHA:97279
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperisoleucinemia, Decreased body weight, Polyphagia, Hyperleucinemia, Increased...	OMIM:620085
Temple Syndrome	Decreased response to growth hormone stimulation test, Polyphagia, Precocious puberty, Obesity, T...	ORPHA:254516
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia...	ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul...	OMIM:620211
Renal Glucosuria	Polydipsia, Glycosuria, Polyphagia	OMIM:233100
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Decreased growth ho...	OMIM:609734
Graves Disease	Increased circulating free T3, Decreased thyroid-stimulating hormone level, Hyperactivity, Polyph...	OMIM:275000
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Obesity, Polyphagia, Hypogonadism	OMIM:614962
Pick Disease Of Brain	Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy	OMIM:172700
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior	ORPHA:356996
Bardet-Biedl Syndrome 9	Polydipsia, Polyphagia, Obesity, Hyperglycemia, Truncal obesity	OMIM:615986
Obesity, Hyperphagia, And Developmental Delay	Obesity, Polyphagia, Motor stereotypy	OMIM:613886
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr...	ORPHA:171706
Bardet-Biedl Syndrome 22	Large for gestational age, Obesity, Polyphagia, Hypogonadism	OMIM:617119
14Q11.2 Microduplication Syndrome	Polyphagia, Hypothyroidism, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	ORPHA:261229
Huntington Disease	Agitation, Decreased body mass index, Oral-pharyngeal dysphagia, Abnormal circulating cholesterol...	ORPHA:399
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr...	ORPHA:263458
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Congenital Glucokinase-Related Hyperinsulinism	Hypoketotic hypoglycemia, Abnormal circulating C-peptide concentration, Type II diabetes mellitus...	ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat...	OMIM:609968
Hypotonia-Cystinuria Syndrome	Neonatal hypoglycemia, Decreased response to growth hormone stimulation test, Hypocalcemia, Polyp...	OMIM:606407
Frontotemporal Dementia	Inappropriate laughter, Disinhibition, Polyphagia	OMIM:600274
Intellectual Developmental Disorder, Autosomal Dominant 39	Self-mutilation, Obesity, Polyphagia, Aggressive behavior	OMIM:616521
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Obesity, Inappropriate laughter, Polyphagia	ORPHA:411515
Plin1-Related Familial Partial Lipodystrophy	Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,...	ORPHA:280356
Hyperinsulinism-Hyperammonemia Syndrome	Asymptomatic hyperammonemia, Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglyce...	ORPHA:35878
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypoglycemia, Hypercholestero...	OMIM:232700
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ...	OMIM:610021
Kleine-Levin Syndrome	Polydipsia, Agitation, Abnormal eating behavior, Polyphagia, Repetitive compulsive behavior, Swee...	ORPHA:33543
Gombo Syndrome	Delayed puberty, Microphthalmia	OMIM:233270
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Mody	Large for gestational age, Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, H...	ORPHA:552
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Prader-Willi Syndrome Due To Imprinting Mutation	Obesity, Hypogonadotropic hypogonadism, Polyphagia	ORPHA:177910
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co...	OMIM:600955
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Loss of gluteal ...	OMIM:604367
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Schaaf-Yang Syndrome	Polyphagia, Impulsivity, Camptodactyly, Skin-picking, Obesity, Flexion contracture, Hypogonadism,...	OMIM:615547
X-Linked Acrogigantism	Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased...	ORPHA:300373
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia	ORPHA:163690
Central Diabetes Insipidus	Polydipsia, Anorexia, Diabetes insipidus, Failure to thrive, Hyponatremia, Weight loss	ORPHA:178029
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli...	ORPHA:411593
Leydig Cell Hypoplasia	Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal...	ORPHA:755
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo...	OMIM:256450
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Agitation, Hyperinsulinemia, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased body weigh...	ORPHA:276608
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Obesity	Obesity, Increased waist to hip ratio, Decreased resting energy expenditure	OMIM:601665
Potocki-Lupski Syndrome	Oral-pharyngeal dysphagia, Hyperactivity, Hypothyroidism, Failure to thrive, Motor stereotypy, Hy...	OMIM:610883
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati...	OMIM:601820
Intellectual Developmental Disorder, Autosomal Dominant 72	Attention deficit hyperactivity disorder, Obesity, Polyphagia, Overfriendliness	OMIM:620439
2Q23.1 Microdeletion Syndrome	Hyperactivity, Polyphagia, Motor stereotypy, Self-injurious behavior, Paroxysmal bursts of laughter	ORPHA:228402
6Q16 Microdeletion Syndrome	Abnormal temper tantrums, Obesity, Polyphagia	ORPHA:171829
Mmep Syndrome	Microphthalmia, Cryptorchidism	ORPHA:3434
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Biemond Syndrome Type 2	Delayed puberty, Microphthalmia, Hypospadias, Hypogonadism, Hypogonadotropic hypogonadism	ORPHA:141333
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Hereditary Central Diabetes Insipidus	Polydipsia, Weight loss, Diabetes insipidus	ORPHA:30925
46,Xy Sex Reversal 11	Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Urogenital...	OMIM:273250
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Hyperinsulinemia, Decreased serum leptin, Polyphagia, Reduced subcutaneous ...	OMIM:608594
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:98793
Microphthalmia, Syndromic 12	Microphthalmia, Cryptorchidism, Bicornuate uterus, Anophthalmia	OMIM:615524
Joubert Syndrome 10	Obesity, Decreased body weight, Polyphagia, Frequent temper tantrums	OMIM:300804
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:177904
Cystinosis	Polydipsia, Delayed puberty, Hypokalemia, Nephrogenic diabetes insipidus, Hypothyroidism, Failure...	ORPHA:213
Hypogonadism, Male	Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias	OMIM:241100
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Hepatomegaly	ORPHA:2432
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:177901
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:98754
Premature Ovarian Failure 12	Microphthalmia, Primary amenorrhea	OMIM:616947
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Generalized lipodystrophy, Hyperinsulinemia, Hyperactivity, Reduced subcuta...	ORPHA:363400
Hyperinsulinemic Hypoglycemia, Familial, 6	Asymptomatic hyperammonemia, Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglyce...	OMIM:606762
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Hyperinsulinemia, Decreased serum leptin, Polyphagia, Reduced subcutaneous ...	OMIM:269700
Isolated Splenogonadal Fusion	Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt...	ORPHA:457083
Intellectual Developmental Disorder, X-Linked 109	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	OMIM:309548
Pediatric-Onset Graves Disease	Polydipsia, Increased circulating T4 concentration, Increased circulating free T3, Hyperactivity,...	ORPHA:525731
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Hypogonadism	ORPHA:2528
Fraxe Intellectual Disability	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	ORPHA:100973
Cebalid Syndrome	Congenital diaphragmatic hernia, Polyphagia	OMIM:618774
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Generalized lipodystrophy, Hypocalcemia, Reduced subcutaneous adipose tissu...	OMIM:612526
Polyendocrine-Polyneuropathy Syndrome	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	ORPHA:453533
Prader-Willi Syndrome	Delayed puberty, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyp...	OMIM:176270
Sim1-Related Prader-Willi-Like Syndrome	Abnormal temper tantrums, Premature pubarche, Small pituitary gland, Polyphagia, Central hypothyr...	ORPHA:398079
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at...	ORPHA:52901
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Rabson-Mendenhall Syndrome	Polydipsia, Increased circulating androgen concentration, Increased serum testosterone level, Fas...	ORPHA:769
Magel2-Related Prader-Willi-Like Syndrome	Abnormal temper tantrums, Premature pubarche, Small pituitary gland, Hypothalamic luteinizing hor...	ORPHA:398069
Secondary Short Bowel Syndrome	Steatorrhea, Primary hypothyroidism, Polyphagia, Central hypothyroidism, Failure to thrive, Weigh...	ORPHA:95427
Chylomicron Retention Disease	Steatorrhea, Hypotriglyceridemia, Failure to thrive, Decreased LDL cholesterol concentration, Hyp...	OMIM:246700
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, External genital hypoplasia, Hypogonadism, Cryptorchidism	ORPHA:363741
Familial Partial Lipodystrophy, Köbberling Type	Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia	ORPHA:79084
Familial Hyperaldosteronism Type I	Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism, Hypokalemia, Abnormal circulat...	ORPHA:403
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hypoglycemia, Hyperinsulinemia	OMIM:606528
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Polydipsia, Delayed puberty, Decreased response to growth hormone stimulation test, Central diabe...	ORPHA:293987
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Mandibuloacral Dysplasia	Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Hypercholesterolemia, Glucose intolerance, L...	ORPHA:2457
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,...	OMIM:147630
Complete Androgen Insensitivity Syndrome	Delayed puberty, Blind vagina, Increased circulating antimullerian hormone concentration, Abnorma...	ORPHA:99429
Nephronophthisis-Like Nephropathy 2	Polydipsia, Elevated circulating creatinine concentration	OMIM:619468
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Delayed puberty, Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL choles...	OMIM:616834
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia	OMIM:610539
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased intramuscular fat, Hyper...	OMIM:151660
Man1B1-Cdg	Truncal obesity, Polyphagia	ORPHA:397941
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Trisomy 18P	Attention deficit hyperactivity disorder, Polyphagia	ORPHA:1715
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre...	OMIM:614841
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Angelman Syndrome	Precocious puberty in females, Tongue thrusting, Hyperactivity, Recurrent hand flapping, Polyphag...	ORPHA:72
Matthew-Wood Syndrome	Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormal sple...	ORPHA:2470
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Hepatomegaly, Cryptorchidism	OMIM:613730
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Secondary amenorrhea, Splenomegaly, Hypogonadism, Hepatic fibrosis	OMIM:613313
Chromosome Xq26.3 Duplication Syndrome	Increased circulating insulin-like growth factor 1 concentration, Polyphagia, Pituitary adenoma, ...	OMIM:300942
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u...	ORPHA:90797
Prader-Willi Syndrome	Decreased circulating inhibin B concentration, Decreased response to growth hormone stimulation t...	ORPHA:739
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Unicornuate uterus	OMIM:600776
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cryptorchidism, Hypogonadism	OMIM:601794
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Abnormal reproductive sys...	ORPHA:1916
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Hyperinsulinemic hypoglycemia, Diabete...	OMIM:616033
Apparent Mineralocorticoid Excess	Polydipsia, Hypokalemia, Decreased circulating renin level, Failure to thrive, Decreased circulat...	ORPHA:320
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Ovarian Dysgenesis 2	Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon...	OMIM:300510
Paternal Uniparental Disomy Of Chromosome 1	Delayed puberty, Abnormal dental enamel morphology, Polyphagia, Increased blood urea nitrogen, Ob...	ORPHA:251004
Hyperproinsulinemia	Hyperinsulinemia, Hyperglycemia	OMIM:616214
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ...	ORPHA:79644
Senior-Loken Syndrome 4	Polydipsia	OMIM:606996
Congenital Fibrinogen Deficiency	Microphthalmia, Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Right ventr...	ORPHA:335
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ...	ORPHA:90793
Ovarian Dysgenesis 6	Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ...	OMIM:618078
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Impotence, Testicular atrophy, As...	OMIM:235200
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Chromosome 22Q13 Duplication Syndrome	Attention deficit hyperactivity disorder, Polyphagia, Impulsivity	OMIM:615538
Congenital Toxoplasmosis	Microphthalmia, Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Thrombocytopenia, Cardi...	ORPHA:858
East Syndrome	Polydipsia, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Hyperaldosteronism, S...	ORPHA:199343
Nanophthalmos	Microphthalmia	ORPHA:35612
Panhypophysitis	Polydipsia, Central diabetes insipidus, Reduced circulating prolactin concentration, Pituitary hy...	ORPHA:95513
Craniopharyngioma	Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Pituitary hypothyroidism, ...	ORPHA:54595
Septo-Optic Dysplasia Spectrum	Polydipsia, Maternal diabetes, Diabetes insipidus, Anterior pituitary hypoplasia, Abnormality of ...	ORPHA:3157
Familial Hyperaldosteronism Type Iii	Polydipsia, Hypokalemia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldo...	ORPHA:251274
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Solitary Fibrous Tumor	Hypophosphatemic rickets, Hypoinsulinemia, Weight loss, Recurrent hypoglycemia, Hypoglycemia, Red...	ORPHA:2126
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Agitation, Polyphagia, Disinhibition, Repetitive compulsive behavior, Hypersexuality	OMIM:607485
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent...	OMIM:614837
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Agitation, Hypophosphatemic r...	ORPHA:263455
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Fanconi Anemia, Complementation Group G	Microphthalmia, Anemia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Congenital Disorder Of Glycosylation, Type Il	Failure to thrive, Hypocholesterolemia, Hypoalbuminemia, Lipodystrophy	OMIM:608776
Whipple Disease	Polydipsia, Anorexia, Cachexia, Hypothyroidism, Hyponatremia, Insulin resistance	ORPHA:3452
Hyperaldosteronism, Familial, Type Iii	Polydipsia, Hypokalemia, Decreased circulating renin level, Adrenal hyperplasia, Hyperaldosteronism	OMIM:613677
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Infertility, Splenomegaly, Amenorrhea, Hypogonadotropic hyp...	OMIM:602390
Luscan-Lumish Syndrome	Obesity, Polyphagia, Aggressive behavior	OMIM:616831
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Cofs Syndrome	Microphthalmia, Hypogonadism	ORPHA:1466
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Hyperinsulinemia, Precocious puberty in females, Failure to thrive, Increas...	ORPHA:528
Acquired Central Diabetes Insipidus	Polydipsia, Weight loss, Diabetes insipidus	ORPHA:95626
Squalene Synthase Deficiency	Increased circulating farnesol concentration, Elbow flexion contracture, Elevated circulating met...	OMIM:618156
Xk Aprosencephaly Syndrome	Abnormal external genitalia, Microphthalmia	ORPHA:3469
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Galactokinase Deficiency	Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Hypergonadotropic h...	ORPHA:79237
Oculocerebrocutaneous Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	OMIM:164180
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Hyperglyce...	OMIM:262190
Premature Ovarian Failure 7	Gonadal dysgenesis, Premature ovarian insufficiency, Clitoral hypertrophy, Secondary amenorrhea, ...	OMIM:612964
Microphthalmia, Syndromic 8	Microphthalmia, Cryptorchidism	OMIM:601349
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Wagro Syndrome	Agitation, Polyphagia, Compulsive behaviors, Obesity, Aggressive behavior	OMIM:612469
Familial Cold Urticaria	Polydipsia	ORPHA:47045
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Nanophthalmos 4	Microphthalmia	OMIM:615972
Intellectual Developmental Disorder, Autosomal Dominant 1	Recurrent hand flapping, Polyphagia, Inappropriate laughter, Self-injurious behavior, Bruxism, Ag...	OMIM:156200
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Failure to thrive, Hypernatremia, Diabetes insipidus	OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Failure to thrive, Hypernatremia, Nephrogenic diabetes insipidus	OMIM:125800
Gangliocytoma	Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Abnormal prolactin level...	ORPHA:251937
Warburg Micro Syndrome 1	Microphthalmia, External genital hypoplasia, Cryptorchidism	OMIM:600118
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Kennedy Disease	Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy	ORPHA:481
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Congenital Rubella Syndrome	Microphthalmia, Jaundice, Anemia, Hepatomegaly, Aplasia/Hypoplasia of the iris, Thrombocytopenia,...	ORPHA:290
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Polydipsia, Hypokalemia, Abnormal circulating renin, Adrenal hyperplasia, Hyperaldosteronism	ORPHA:369929
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Primary Unilateral Adrenal Hyperplasia	Polydipsia, Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive primary hy...	ORPHA:231580
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Pseudohypoparathyroidism Type 1C	Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l...	ORPHA:79444
Maternal Uniparental Disomy Of Chromosome 4	Diabetes insipidus, Decreased body weight, Elevated circulating creatine kinase concentration, Hy...	ORPHA:96180
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Pierpont Syndrome	Microphthalmia, Cryptorchidism	ORPHA:487825
Nephronophthisis 9	Polydipsia	OMIM:613824
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Ovarian Dysgenesis 9	Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci...	OMIM:619665
Pierpont Syndrome	Microphthalmia, Cryptorchidism, Micropenis	OMIM:602342
Perrault Syndrome 6	Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas...	OMIM:617565
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis, Diabete...	OMIM:271500
Gracile Bone Dysplasia	Microphthalmia, Aniridia, Ascites, Asplenia, Hypoplastic spleen, Micropenis	OMIM:602361
Joubert Syndrome 37	Microphthalmia, Hepatomegaly, Decreased testicular size, Cryptorchidism, Micropenis	OMIM:619185
Gitelman Syndrome	Polydipsia, Delayed puberty, Hypermagnesemia, Maternal diabetes, Hypokalemia, Hypocalcemia, Grave...	ORPHA:358
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:1135
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Unilateral microphthalmos, Thrombocytopenia, Splenomegaly	OMIM:615085
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Mandibuloacral Dysplasia With Type B Lipodystrophy	Decreased adipose tissue around neck, Generalized lipodystrophy, Hyperinsulinemia, Loss of trunca...	OMIM:608612
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Peroxisome Biogenesis Disorder 3B	Elevated circulating phytanic acid concentration, Failure to thrive, Steatorrhea, Hypocholesterol...	OMIM:266510
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest...	OMIM:615558
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia, Hyperuricemia	OMIM:306000
Bdv Syndrome	Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo...	OMIM:619326
Premature Ovarian Failure 6	Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ...	OMIM:612310
Hypoadrenocorticism, Familial	Hyperkalemia, Adrenal hypoplasia, Hyponatremia, Hypoglycemia, Cyanosis, Adrenal insufficiency	OMIM:240200
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Absent external genitalia, Urogenital...	ORPHA:325124
Meckel Syndrome, Type 8	Ambiguous genitalia, Enlarged kidney, Microphthalmia, Anophthalmia	OMIM:613885
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Nephrogenic Diabetes Insipidus	Polydipsia, Anorexia, Nephrogenic diabetes insipidus, Failure to thrive, Hypernatremia	ORPHA:223
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat...	OMIM:308700
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma	ORPHA:882
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Abnormal ci...	ORPHA:2298
Hyperparathyroidism, Neonatal Severe	Polydipsia, Elevated circulating parathyroid hormone level, Calcinosis, Primary hyperparathyroidi...	OMIM:239200
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity, Type II diabetes mellitus, Keloids	ORPHA:3085
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Hypospadias, Aniridia, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Str...	OMIM:194072
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l...	ORPHA:79443
Premature Ovarian Failure 18	Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second...	OMIM:619203
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Bardet-Biedl Syndrome 17	Polydipsia, Obesity, Hypogonadism	OMIM:615994
46,Xy Partial Gonadal Dysgenesis	Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Absenc...	ORPHA:251510
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormality of the menstrual cycle	ORPHA:721
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Failure to thrive, Hypogonadism, Neonatal hyperbilirubinemia, Attention deficit hy...	ORPHA:73272
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Self-mutilation, Polyphagia, Restlessness, Aggressive behavior	ORPHA:251028
Alg12-Cdg	Abnormal adipose tissue morphology, Camptodactyly, Failure to thrive, Hyponatremia, Recurrent hyp...	ORPHA:79324
Intellectual Developmental Disorder, Autosomal Dominant 45	Neonatal hypoglycemia, Hyperactivity, Recurrent hand flapping, Slender build, Motor stereotypy, A...	OMIM:617600
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyperkalemia, Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Failure ...	OMIM:614736
Ovarian Dysgenesis 7	Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu...	OMIM:618117
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Inguinal hernia, Hyperactivity, Polyphagia, Obesity, Collectioni...	ORPHA:96121
Adnp Syndrome	Abnormal temper tantrums, Oral-pharyngeal dysphagia, Inguinal hernia, Compulsive behaviors, Polyp...	ORPHA:404448
Premature Ovarian Failure 3	Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus	OMIM:608996
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Normosmic Congenital Hypogonadotropic Hypogonadism	Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased female li...	ORPHA:432
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Neurooculocardiogenitourinary Syndrome	Cardiomegaly, Microphthalmia, Bilateral cryptorchidism	OMIM:618652
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Microphthalmia	OMIM:609054
Parathyroid Carcinoma	Polydipsia, Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone le...	ORPHA:143
Gitelman Syndrome	Polydipsia, Delayed puberty, Hypokalemia, Increased circulating renin level, Failure to thrive, H...	OMIM:263800
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polydipsia, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Hyperaldosteronism, S...	OMIM:612780
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se...	ORPHA:90796
Kallmann Syndrome With Spastic Paraplegia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:308750
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:48431
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Polydipsia, Elevated circulating parathyroid hormone level, Parathyroid hyperplasia, Hypercalcemi...	OMIM:617994
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hypogo...	ORPHA:848
Weaver Syndrome	Inguinal hernia, Polyphagia, Camptodactyly, Umbilical hernia, Joint contracture of the hand	OMIM:277590
Infantile Nephropathic Cystinosis	Polydipsia, Abnormality of thyroid physiology, Hypokalemia, Glycosuria, Failure to thrive, Hypoph...	ORPHA:411629
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Erectile dysfunction, Hepatocellular carcinoma, Decreased libido, Infert...	ORPHA:465508
Ochoa Syndrome	Polydipsia	ORPHA:2704
Perrault Syndrome 3	Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated...	OMIM:614129
Juvenile Nephropathic Cystinosis	Polydipsia, Hypokalemia, Hypocalcemia, Hypouricemia, Hypothyroidism, Glycosuria, Failure to thriv...	ORPHA:411634
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Hydatidiform Mole	Menometrorrhagia, Anemia, Hyperthyroidism, Enlarged uterus	ORPHA:99927
Bile Acid Synthesis Defect, Congenital, 1	Failure to thrive, Steatorrhea, Conjugated hyperbilirubinemia, Hypocholesterolemia	OMIM:607765
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Hepatomegaly, Pancreatitis, Hepatic steatosis, Microcytic anemia	OMIM:618805
Premature Ovarian Failure 13	Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen...	OMIM:617442
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Hyperparathyroidism-Jaw Tumor Syndrome	Polydipsia, Thyroid carcinoma, Elevated circulating parathyroid hormone level, Lipoma, Primary hy...	ORPHA:99880
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hyperinsulinemia, Hypercholesterolemia, Increased adipose tissue around the neck, Los...	OMIM:248370
Dyskeratosis Congenita, Autosomal Recessive 2	Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Testicular atrophy	OMIM:613987
Developmental Delay, Language Impairment, And Ocular Abnormalities	Inguinal hernia, Hyperactivity, Impulsivity, Frequent temper tantrums, Motor stereotypy, Attentio...	OMIM:620141
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Bresek Syndrome	Decreased testicular size, Optic nerve hypoplasia, Microphthalmia, Cryptorchidism	ORPHA:85284
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Hyperinsulinemia, Elevated circulating creatine kinase concentration, Failu...	OMIM:613327
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy	OMIM:313200
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Micropenis, Ectopic posteri...	OMIM:610125
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac...	ORPHA:289548
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Microphthalmia	ORPHA:93267
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac...	ORPHA:168558
Congenital Disorder Of Glycosylation, Type Ia	Abnormal subcutaneous fat tissue distribution, Steatorrhea, Hypergonadotropic hypogonadism, Hypot...	OMIM:212065
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina...	OMIM:277000
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Adrenal hypoplasia, Bone marrow hypocellularity, Thrombocytopenia...	OMIM:619151
Mullerian Aplasia And Hyperandrogenism	Increased circulating androstenedione concentration, Aplasia of the vagina, Abnormal external gen...	OMIM:158330
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis	OMIM:308350
Wolfram Syndrome	Polydipsia, Delayed puberty, Male hypogonadism, Diabetes insipidus, Hypogonadism, Diabetes mellitus	ORPHA:3463
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Hyperactivity, Polyphagia, Compulsive beha...	OMIM:615873
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P...	OMIM:233420
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Hypoplasia of penis	ORPHA:2547
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Cystinosis, Nephropathic	Polydipsia, Delayed puberty, Male hypogonadism, Hypophosphatemic rickets, Hypokalemia, Reduced bl...	OMIM:219800
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Donohue Syndrome	Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Precocious puberty, Hyperglycem...	OMIM:246200
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Abnormally large globe, Pancreatic lymphangiect...	ORPHA:1655
Perlman Syndrome	Femoral hernia, Hyperinsulinemia, Inguinal hernia	ORPHA:2849
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Fasting hypoglycemia, Impaired gluconeogenesis, Low plasma citrulline, Hypoglycemia, Cyanosis	OMIM:261680
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal circulating lipid concentration, Hyperinsulinemia, Generalized lip...	ORPHA:79086
Hydrolethalus	Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia	ORPHA:2189
Pituitary Dermoid And Epidermoid Cysts	Polydipsia, Enlarged pituitary gland, Anterior hypopituitarism, Panhypopituitarism, Hyperpituitar...	ORPHA:91351
Teratoma, Pineal	Polydipsia	OMIM:273120
Pituitary Hormone Deficiency, Combined, 6	Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co...	OMIM:613986
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Polydipsia, Abnormality of endocrine pancreas physiology, Hyperuricemia, Hypothyroidism, Diabetes...	ORPHA:93111
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Bangstad Syndrome	Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g...	ORPHA:1227
Ovarian Dysgenesis 5	Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone...	OMIM:617690
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased body mass index, Hyperch...	ORPHA:247585
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Trisomy 13	Microphthalmia, Anophthalmia, Displacement of the urethral meatus, Aplasia/Hypoplasia of the iris...	ORPHA:3378
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Small scrotum, Microphthalmia, Cryptorchidism, Hypogonadism	ORPHA:228390
Oligomeganephronia	Congenital diaphragmatic hernia, Polydipsia, Elevated circulating creatinine concentration, Small...	ORPHA:2260
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia, Hypogonadism, Testicular atrophy	OMIM:618165
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Decreased circulating car...	ORPHA:71212
Beta-Thalassemia Intermedia	Anemia of inadequate production, Splenomegaly, Hypogonadism, Decreased mean corpuscular volume, A...	ORPHA:231222
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Fanconi Anemia, Complementation Group S	Ovarian carcinoma, Ovarian neoplasm, Microphthalmia, Anemia	OMIM:617883
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Hypoplasia of penis, Cryptorchidism	ORPHA:77298
Brain-Lung-Thyroid Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Hypoparathyroidism, Hyperactivity...	ORPHA:209905
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:614842
Glucocorticoid Resistance, Generalized	Increased circulating androstenedione concentration, Increased serum testosterone level, Increase...	OMIM:615962
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Warburg Micro Syndrome 4	Microphthalmia, Decreased testicular size, Small scrotum, Cryptorchidism, Micropenis	OMIM:615663
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Microphthalmia, Micropenis	OMIM:610756
Perrault Syndrome 4	Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus...	OMIM:615300
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia, Hypoplasia of the uterus, Vaginal atresia	OMIM:617914
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Abnormal temper tantrums, Hyperactivity, Recurrent hand flapping, Hypothyroidism, Hyperthyroidism...	ORPHA:449291
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Chylomicron Retention Disease	Failure to thrive, Steatorrhea, Hypocholesterolemia	ORPHA:71
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Bilateral cryptorchidism, Abdominal adhesions, Lymphopenia, Neutropenia	OMIM:616395
Vaginal Atresia	Transverse vaginal septum, Pelvic mass, Vaginal hematocele, Imperforate hymen, Bicornuate uterus,...	ORPHA:65681
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Cryptorchidism, Anophthalmia, Abnormality of the hypothalamus-pituitary axis	ORPHA:139471
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis...	OMIM:619375
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Leukemia	OMIM:602501
Osteoporosis-Pseudoglioma Syndrome	Isosexual precocious puberty, Microphthalmia	ORPHA:2788
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, True hermaphroditis...	OMIM:278850
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Estrogen Resistance	Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole...	OMIM:615363
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Cryptorchidism	OMIM:214150
Moebius Syndrome	Decreased testicular size, Microphthalmia, Micropenis, Hypogonadotropic hypogonadism	OMIM:157900
Myotonic Dystrophy 1	Hypogonadism, Testicular atrophy, Cholelithiasis	OMIM:160900
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypocholesterolemia	OMIM:618810
Bartter Syndrome, Type 2, Antenatal	Polydipsia, Hyperchloriduria, Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, I...	OMIM:241200
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation...	OMIM:602347
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Hypospadias, Abnormal scrotum morphology, Small scrotum, Cryptorchidism	ORPHA:2505
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Truncal obesity, Increased LDL cholesterol concentration, Hyperglycemia, Ty...	OMIM:615812
Helix Syndrome	Polydipsia, Hypermagnesemia, Hypokalemia, Hyperparathyroidism	OMIM:617671
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hair-pulling, Nail-biting, Hypocalcemia, Polyphagia, Fixated interests, Motor stereotypy, Umbilic...	OMIM:620330
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ...	OMIM:202010
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland	OMIM:614402
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal...	OMIM:616278
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Seckel Syndrome 2	Microphthalmia, Hypospadias	OMIM:606744
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Polydipsia, Hyperchloriduria, Hypokalemia, Hypochloremia, Failure to thrive, Hyponatremia, Hypera...	OMIM:602522
Senior-Boichis Syndrome	Polydipsia, Agitation, Increased total bilirubin, Attention deficit hyperactivity disorder, Aggre...	ORPHA:84081
Abetalipoproteinemia	Steatorrhea, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Hyperbilirubinemia, Ab...	ORPHA:14
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Erdheim-Chester Disease	Polydipsia, Xanthelasma, Diabetes insipidus, Weight loss, Hypogonadotropic hypogonadism	ORPHA:35687
Renal Hypoplasia	Polydipsia, Small for gestational age	ORPHA:93101
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Bone marrow hypocellularity, Microphthalmia, Decreased pineal volume	OMIM:301108
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Warburg Micro Syndrome 3	Microphthalmia, Hypoplastic labia minora, Decreased testicular size, Small scrotum, Micropenis	OMIM:614222
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Proximal Renal Tubular Acidosis	Polydipsia, Bicarbonaturia, Hypokalemia, Glycosuria, Failure to thrive, Enamel hypomineralization	ORPHA:47159
Baraitser-Winter Syndrome 1	Microphthalmia, Cryptorchidism, Micropenis	OMIM:243310
Warburg Micro Syndrome 2	Microphthalmia, Small scrotum, Cryptorchidism, Micropenis, Hypoplastic labia majora	OMIM:614225
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hepatocellular carci...	ORPHA:64743
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Mosaic Trisomy 9	Hypoplastic female external genitalia, Microphthalmia, Abnormal liver lobulation, Abnormal fallop...	ORPHA:99776
Braddock-Carey Syndrome 2	Microphthalmia, Thrombocytopenia	OMIM:619981
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi...	ORPHA:90794
Dubowitz Syndrome	Hyperactivity, Hypocholesterolemia, Inguinal hernia	OMIM:223370
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Nephronophthisis 4	Polydipsia	OMIM:606966
Hyperthyroidism, Nonautoimmune	Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat...	OMIM:609152
Nephronophthisis 3	Polydipsia, Failure to thrive	OMIM:604387
Satoyoshi Syndrome	Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of...	ORPHA:3130
Micro Syndrome	Delayed puberty, Microphthalmia, Hypoplasia of penis, Hypoplastic labia minora, Clitoral hypoplas...	ORPHA:2510
Senior-Loken Syndrome 3	Polydipsia	OMIM:606995
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Cryptorchidism, Hypospadias	ORPHA:494344
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Fanconi Anemia, Complementation Group A	Male infertility, Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypo...	OMIM:227650
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Multiple Mitochondrial Dysfunctions Syndrome 7	Hyperglycinemia, Agitation, Hyperactivity, Impulsivity, Hypernatremia, Hyperglycemia, Hypoglycemi...	OMIM:620423
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos...	ORPHA:846
Fanconi Anemia, Complementation Group E	Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Thromboc...	OMIM:600901
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Subaortic Stenosis-Short Stature Syndrome	Biliary tract abnormality, Microphthalmia, Type II diabetes mellitus	ORPHA:3191
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Microphthalmia, Anemia, Microphallus, Bone...	OMIM:603467
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Congenital hypoparathyroid...	OMIM:241410
Wolfram Syndrome 1	Diabetes insipidus, Megaloblastic anemia, Hypothyroidism, Sideroblastic anemia, Thrombocytopenia,...	OMIM:222300
Lumbar Syndrome	Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl...	ORPHA:83628
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Cryptorchidism	OMIM:618494
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Hypomagnesemia 3, Renal	Amelogenesis imperfecta, Polydipsia, Elevated circulating parathyroid hormone level, Hypocalcemic...	OMIM:248250
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Multiple Endocrine Neoplasia Type 4	Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop...	ORPHA:276152
1P36 Deletion Syndrome	Polyphagia, Hypothyroidism, Camptodactyly of finger, Failure to thrive, Obesity, Dysphagia, Motor...	ORPHA:1606
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Left ventricular hypertrophy	OMIM:613153
Nephronophthisis 1	Polydipsia	OMIM:256100
Senior-Loken Syndrome 1	Polydipsia, Elevated circulating creatinine concentration	OMIM:266900
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Meckel Syndrome	Microphthalmia, Accessory spleen, Anophthalmia, Asplenia, Male pseudohermaphroditism, True hermap...	ORPHA:564
Lissencephaly 8	Microphthalmia	OMIM:617255
Multiple Endocrine Neoplasia, Type I	Glucagonoma, Increased circulating prolactin concentration, Adrenocortical adenoma, Pancreatic is...	OMIM:131100
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Microphthalmia, Syndromic 9	Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Bicornuate uterus, Hypoplastic spl...	OMIM:601186
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Cryptorchidism, Septo-optic dysplasia, Vaginal atresia	ORPHA:3301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Microphthalmia, Cryptorchidism	ORPHA:2728
Addison Disease	Delayed puberty, Decreased circulating cortisol level, Type I diabetes mellitus, Salt craving, An...	ORPHA:85138
Nephronophthisis 11	Polydipsia	OMIM:613550
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ...	ORPHA:85327
Fanconi Anemia, Complementation Group C	Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Bone mar...	OMIM:227645
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Microphthalmia, Female infertility, Amenorrhea, Increased circul...	OMIM:110100
Meckel Syndrome, Type 5	Microphthalmia, Bile duct proliferation	OMIM:611561
Kapur-Toriello Syndrome	Microphthalmia, Hypoplasia of penis, Hypoplastic labia majora	ORPHA:2328
Toxic Epidermal Necrolysis	Polydipsia, Dysphagia, Weight loss	ORPHA:537
Marden-Walker Syndrome	Microphthalmia, Cryptorchidism, Micropenis, Hypospadias	OMIM:248700
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Microphthalmia, Optic nerve hypoplasia, Hy...	OMIM:609053
Aarskog-Scott Syndrome	Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve...	OMIM:305400
Kapur-Toriello Syndrome	Microphthalmia, Cryptorchidism, Micropenis, Hypoplastic labia majora	OMIM:244300
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Cryptorchidism	ORPHA:404440
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulating hormone concentr...	ORPHA:785
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg...	OMIM:603903
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Kaufman Oculocerebrofacial Syndrome	Failure to thrive, Hypocholesterolemia	OMIM:244450
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Unilateral cryptorchidism	OMIM:206920
Refsum Disease	Microphthalmia, Splenomegaly	ORPHA:773
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Bicornuate uterus, Azoospermia	OMIM:601076
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, External genital hypoplasia, Hypoplasia of penis, Anophthalmia, Hypogonadism, Cry...	ORPHA:2250
Müllerian Aplasia And Hyperandrogenism	Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Primary...	ORPHA:247768
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Ritscher-Schinzel Syndrome 3	Microphthalmia, Cryptorchidism	OMIM:619135
Chromosome 1P36 Deletion Syndrome, Distal	Polyphagia, Camptodactyly, Congenital hypothyroidism, Oppositional defiant disorder, Camptodactyl...	OMIM:607872
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hepatomegaly	OMIM:619053
Mayer-Rokitansky-Küster-Hauser Syndrome	Endometriosis, Aplasia of the uterus, Dyspareunia, Ectopic ovary, Hypoplasia of the vagina, Prima...	ORPHA:3109
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Walker-Warburg Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia, Hypoplasia of penis	ORPHA:899
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Vaginal atresia, Anophthalmia	OMIM:248450
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
Meckel Syndrome 14	Ambiguous genitalia, Hepatic fibrosis, Aplasia of the uterus, Microphthalmia	OMIM:619879
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Microcytic anemia	OMIM:612379
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Cryptorchidism	ORPHA:369891
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Smith-Lemli-Opitz Syndrome	Hyperactivity, Precocious puberty, Failure to thrive, Elevated circulating 7-dehydrocholesterol c...	OMIM:270400
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Microphthalmia, Hypospadias, Bifid scrotum, Left ventricular hypertrop...	OMIM:619148
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Cryptorchidism, Supernumerary nipple	OMIM:612530
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat...	OMIM:613812
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Secondary Intestinal Lymphangiectasia	Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Reduced circulating...	ORPHA:90363
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Distal Renal Tubular Acidosis	Polydipsia, Failure to thrive, Hypokalemia	ORPHA:18
Microphthalmia, Syndromic 3	Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia,...	OMIM:206900
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Pseudotrisomy 13 Syndrome	Microphthalmia, Adrenal hypoplasia, Bicornuate uterus, Cryptorchidism, Micropenis	OMIM:264480
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Anemia, Accessory spleen, Portal hypertension, Hypothyroidism, Severe B lymphocyt...	OMIM:620005
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Primary ameno...	OMIM:146255
Martsolf Syndrome 1	Microphthalmia, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism	OMIM:212720
Monosomy 18P	Hypothyroidism, Microphthalmia	ORPHA:1598
Fanconi Anemia, Complementation Group D2	Annular pancreas, Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypo...	OMIM:227646
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Cryptorchidism, Hypoplasia of the iris	OMIM:613001
Fanconi Anemia, Complementation Group R	Bone marrow hypocellularity, Microphthalmia, Anemia	OMIM:617244
Meckel Syndrome, Type 2	Microphthalmia, Bile duct proliferation	OMIM:603194
Seckel Syndrome 7	Central hypothyroidism, Hypoplasia of the uterus, Primary amenorrhea	OMIM:614851
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Agonadism, Hypoplas...	OMIM:154230
Tetraamelia Syndrome 1	Microphthalmia, Absent external genitalia, Hypoplasia of the fallopian tube, Asplenia, Vaginal at...	OMIM:273395
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Alstrom Syndrome	Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyperinsulinemia, De...	OMIM:203800
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Agitation, Hyperactivity, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight loss, Goite...	ORPHA:424
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen, I...	ORPHA:230
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior hypopituitarism, ...	OMIM:147250
Jacobsen Syndrome	Annular pancreas, Microphthalmia, Hypospadias, Labial hypoplasia, Clitoral hypoplasia, Thrombocyt...	OMIM:147791
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Leprechaunism	Hyperinsulinemia, Fasting hypoglycemia, Hypokalemia, Decreased body weight, Increased circulating...	ORPHA:508
Vacterl With Hydrocephalus	Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia	ORPHA:3412
Renal-Hepatic-Pancreatic Dysplasia 1	Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Cholestasis, Biliary cirrhosis...	OMIM:208540
Basel-Vanagaite-Smirin-Yosef Syndrome	Clitoral hypertrophy, Microphthalmia, Hypospadias	OMIM:616449
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Splenic cyst, Pancr...	OMIM:610199
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Hypospadias, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadotropic hyp...	OMIM:603457
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
8Q21.11 Microdeletion Syndrome	Microphthalmia, Cryptorchidism, Hypoplasia of penis	ORPHA:284160
Microphthalmia, Lenz Type	Microphthalmia, Cryptorchidism, Hypospadias	ORPHA:568
Meckel Syndrome, Type 4	Microphthalmia, Bile duct proliferation	OMIM:611134
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Alström Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Hypertriglyceridemia, Decreased r...	ORPHA:64
Adams-Oliver Syndrome	Cirrhosis, Microphthalmia, Ascites, Portal hypertension, Thrombocytopenia, Leukopenia, Congenital...	ORPHA:974
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Microphthalmia, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of ...	OMIM:309801
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Fanconi Anemia, Complementation Group L	Microphthalmia, Anemia, Aplasia of the uterus, Bone marrow hypocellularity, Micropenis	OMIM:614083
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Satoyoshi Syndrome	Amenorrhea, Hypoplasia of the uterus	OMIM:600705
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp...	ORPHA:2334
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Microphthalmia	ORPHA:370959
Fanconi Anemia	Microphthalmia, Anemia, Hypospadias, Abnormal preputium morphology, Azoospermia, Decreased fertil...	ORPHA:84
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Cryptorchidism, Micropenis	OMIM:614230
Fryns Syndrome	Microphthalmia, Bicornuate uterus, Hypospadias, Cryptorchidism	ORPHA:2059
Ohdo Syndrome, X-Linked	Microphthalmia, Small scrotum, Shawl scrotum, Cryptorchidism, Micropenis	OMIM:300895
Familial Gestational Hyperthyroidism	Agitation, Hyperactivity, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight loss, Goite...	ORPHA:99819
Garg-Mishra Progeroid Syndrome	Microvesicular hepatic steatosis, Microphthalmia	OMIM:620601
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Hypospadias, Macroorchidism	OMIM:618874
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Temtamy Syndrome	Microphthalmia	OMIM:218340
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Adrenal hypoplasia, Thyroid hypoplasia, Abnorma...	ORPHA:2166
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Cardiac-Urogenital Syndrome	Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Aplasia of the uterus, Bifid scrotum,...	OMIM:618280
Cohen Syndrome	Delayed puberty, Microphthalmia, Cryptorchidism, Neutropenia	ORPHA:193
Meckel Syndrome, Type 1	Ambiguous genitalia, male, Microphthalmia, External genital hypoplasia, Accessory spleen, Adrenal...	OMIM:249000
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Microphthalmia, Hypospadias, Anophthalmia	OMIM:615877
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma	OMIM:618914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Woodhouse-Sakati Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Prematu...	ORPHA:3464
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Oeis Complex	Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl...	OMIM:258040
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Hypogonadism	OMIM:610651
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ...	OMIM:241080
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Hepatomegaly, Rectovaginal fistula, Anophthalmia, Perineal fistula, Abnormality o...	ORPHA:2538
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Arima Syndrome	Polydipsia	OMIM:243910
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Hypotriglyceridemia, Corneal scarring, Impaired oral bolus formation, Failure to thrive, Impaired...	ORPHA:404454
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Treacher-Collins Syndrome	Abnormality of the adrenal glands, Microphthalmia, Rectovaginal fistula, Hypoplasia of penis, Thy...	ORPHA:861
Frontonasal Dysplasia 2	Microphthalmia, Bilateral cryptorchidism	OMIM:613451
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Fryns Syndrome	Microphthalmia, Hypospadias, Bifid scrotum, Bicornuate uterus, Ectopic pancreatic tissue, Shawl s...	OMIM:229850
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am...	OMIM:157640
Mosaic Trisomy 1	Hepatic agenesis, Penile hypospadias, Microphthalmia, Micropenis	ORPHA:1692
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Aplasia of the uterus, Uterus didelphys, Parathyroid hypoplasia, Vaginal atre...	ORPHA:2237
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Holoprosencephaly	Microphthalmia, Anterior hypopituitarism, Diabetes insipidus, Hypoplasia of penis, Anophthalmia, ...	ORPHA:2162
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Pallister-Hall Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Adrenal hypoplasia, Panhyp...	OMIM:146510
Fraser Syndrome 2	Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus	OMIM:617666
Townes-Brocks Syndrome 2	Bifid uterus, Hypospadias, Rectovaginal fistula	OMIM:617466
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Supernumerary nipple	OMIM:620098
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Hypogonadism	OMIM:601675
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Atypical Werner Syndrome	Lipoatrophy, Delayed puberty, Neoplasm of the thyroid gland, Hyperinsulinemia, Generalized lipody...	ORPHA:79474
Retinitis Pigmentosa	Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism	ORPHA:791
Atelis Syndrome 2	Attention deficit hyperactivity disorder, Hyperinsulinemia, Elevated circulating thyroid-stimulat...	OMIM:620185
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Autosomal Recessive Polycystic Kidney Disease	Polydipsia, Hyponatremia, Increased serum bile acid concentration	ORPHA:731
Basel-Vanagaite-Smirin-Yosef Syndrome	Male urethral meatus stenosis, Microphthalmia, Hypospadias, Cholelithiasis	ORPHA:464738
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Decreased fertility	OMIM:234050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Microphthalmia, Optic nerve hypoplasia, Hypoplastic male external genitalia, Buphthalmos, Cryptor...	OMIM:236670
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Thrombocytopenia	ORPHA:3320
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Lesch-Nyhan Syndrome	Megaloblastic anemia, Testicular atrophy	OMIM:300322
Bartsocas-Papas Syndrome 1	Microphthalmia, Hypoplastic labia majora, Hypoplastic male external genitalia, Bicornuate uterus,...	OMIM:263650
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Clitoral hypertrophy, Microphthalmia, Hypospadias, Abnormal fallopian tube morphology...	ORPHA:2556
Stromme Syndrome	Optic nerve hypoplasia, Microphthalmia, Accessory spleen	OMIM:243605
Rodrigues Blindness	Microphthalmia	OMIM:268320
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Uterus didelphys, Absent gallbladder, Septate vagina, Micropenis	OMIM:617925
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Cockayne Syndrome B	Microphthalmia, Hepatomegaly, Hypoplasia of the iris, Splenomegaly, Cryptorchidism, Micropenis	OMIM:133540
Histiocytoid Cardiomyopathy	Microphthalmia, Hepatomegaly, Congenital aphakia, Cardiomegaly, Polycystic ovaries	ORPHA:137675
Pontocerebellar Hypoplasia Type 7	Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro...	ORPHA:284339
1Q21.1 Microdeletion Syndrome	Microphthalmia, Cryptorchidism	ORPHA:250989
Joubert Syndrome 2	Hypoplastic male external genitalia, Microphthalmia	OMIM:608091
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Trisomy 18	Microphthalmia, Cryptorchidism, Abnormal morphology of female internal genitalia	ORPHA:3380
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Acromesomelic Dysplasia 3	Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated...	OMIM:609441
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
2Q31.1 Microdeletion Syndrome	Microphthalmia, Cryptorchidism, Abnormality of the hypothalamus-pituitary axis	ORPHA:251014
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Cryptorchidism, Hypogonadism, Microphthalmia	OMIM:268400
3Q29 Microdeletion Syndrome	Microphthalmia, Hypospadias	ORPHA:65286
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Ascites, Vaginal neoplasm, Hypothyroidism, Acute lymphoblastic leukemia, Ambiguou...	ORPHA:1052
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Accessory spleen, Clitoral hypoplasia, Elevated circulating follicle stimulat...	OMIM:618419
Renal Cysts And Diabetes Syndrome	Maturity-onset diabetes of the young, Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Bili...	OMIM:137920
Hallermann-Streiff Syndrome	Hypothyroidism, Microphthalmia, Cryptorchidism, Abdominal situs inversus	ORPHA:2108
Meckel Syndrome 12	Hypoplasia of the uterus, Vaginal atresia	OMIM:616258
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Incontinentia Pigmenti	Breast hypoplasia, Microphthalmia, Breast aplasia, Hypoplastic nipples, Leukocytosis, Hypoplasia ...	OMIM:308300
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Ambiguous genitalia, Microphthalmia, Cryptorchidism	OMIM:616300
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Microphthalmia, Hypospadias, Abnormal vagina morphology, Accessory sple...	OMIM:236680
Cousin Syndrome	Ambiguous genitalia, male, Microphthalmia, Ambiguous genitalia, female	OMIM:260660
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Joubert Syndrome 14	Microphthalmia	OMIM:614424
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, Hypoplastic nipples	OMIM:156610
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Steinert Myotonic Dystrophy	Obsessive-compulsive trait, Non-medullary thyroid carcinoma, Abnormality of thyroid physiology, H...	ORPHA:273
Roberts Syndrome	Clitoral hypertrophy, Microphthalmia, Long penis, Thrombocytopenia, Cryptorchidism	ORPHA:3103
22Q11.2 Deletion Syndrome	Microphthalmia, Hypoparathyroidism, Hypospadias, Cholelithiasis, Abnormality of the tonsils, Hypo...	ORPHA:567
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Congenital hypothyroidism...	OMIM:620186
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Frontorhiny	Hypopituitarism, Microphthalmia, Diabetes insipidus	ORPHA:391474
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Degcags Syndrome	Microphthalmia, Hepatomegaly, Anemia, Iron deficiency anemia, Hypospadias, Pancytopenia, Ambiguou...	OMIM:619488
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Pelvis-Shoulder Dysplasia	Ambiguous genitalia, Bilateral microphthalmos	ORPHA:2839
Hallermann-Streiff Syndrome	Microphthalmia, Cryptorchidism	OMIM:234100
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Phace Association	Optic nerve hypoplasia, Microphthalmia, Lingual thyroid, Congenital hypothyroidism	OMIM:606519
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Male sexual dysfunction, Absen...	ORPHA:322
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Fraser Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Anophthalmia, Bicor...	ORPHA:2052
Phocomelia, Schinzel Type	Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis	ORPHA:2879
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Cryptorchidism, Hypospadias, Microphthalmia	OMIM:616975
Fanconi Anemia, Complementation Group N	Aplastic anemia, Microphthalmia, Acute myeloid leukemia	OMIM:610832
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Abnormal circulating follicle-stimulating hormone concentration, Anemia...	ORPHA:93325
Chromosome 17Q12 Deletion Syndrome	Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism	OMIM:614527
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Pallister-Hall Syndrome	Microphthalmia, Thyroid hypoplasia, Small scrotum, Central adrenal insufficiency, Hydrometrocolpo...	ORPHA:672
Limb-Mammary Syndrome	Breast aplasia, Aplasia of the uterus, Hypoplastic nipples, Absent nipple, Bilateral breast hypop...	ORPHA:69085
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia, Hypospadias, Bifid scrotum, Clitoral hypoplasia, Cryptorchidism, Micropenis	OMIM:609945
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia	ORPHA:251038
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus	OMIM:615866
Trichothiodystrophy	Gonadal dysgenesis, Bilateral microphthalmos, Anemia, Increased mean corpuscular hemoglobin conce...	ORPHA:33364
Microphthalmia/Coloboma 12	Microphthalmia, Optic nerve aplasia	OMIM:120200
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Decreased circulati...	ORPHA:572333
Basal Cell Nevus Syndrome 1	Ovarian fibroma, Ovarian carcinoma, Microphthalmia	OMIM:109400
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Aplasia of the uterus, Aplasia of the vagina	ORPHA:457284
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Microphthalmia	OMIM:300952
Thrombocytopenia-Absent Radius Syndrome	Anemia, Aplasia of the uterus, Leukocytosis, Thrombocytopenia, Hepatosplenomegaly, Eosinophilia, ...	OMIM:274000
Charge Syndrome	Delayed puberty, Abnormality of the adrenal glands, Microphthalmia, Anterior hypopituitarism, Ano...	ORPHA:138
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Hypoparathyroidism, Anemia	OMIM:127000
Monosomy 9P	Ambiguous genitalia, Microphthalmia, Cryptorchidism, Hypospadias	ORPHA:261112
Fraser Syndrome 1	Clitoral hypertrophy, Bilateral microphthalmos, Hypospadias, Anophthalmia, Bicornuate uterus, Vag...	OMIM:219000
Aicardi Syndrome	Hepatoblastoma, Microphthalmia, Precocious puberty, Delayed puberty	ORPHA:50
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Norrie Disease	Buphthalmos, Microphthalmia, Hypoplasia of the iris	OMIM:310600
Cockayne Syndrome	Delayed puberty, Microphthalmia, Hepatomegaly, Absence of pubertal development, Diabetes mellitus...	ORPHA:191
Skin Creases, Congenital Symmetric Circumferential, 2	Small scrotum, Microphthalmia, Cryptorchidism, Hypospadias	OMIM:616734
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Monosomy 9Q22.3	Ovarian fibroma, Microphthalmia	ORPHA:77301
X-Linked Intellectual Disability, Snyder Type	Testicular atrophy, Cryptorchidism, Hypospadias, Abnormality of the Leydig cells	ORPHA:3063
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Cryptorchidism, Micropenis, Supernumerary nipple	OMIM:613884
Charge Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, External genital hypoplas...	OMIM:214800
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Microph...	ORPHA:534
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ...	OMIM:201750
Microphthalmia, Syndromic 2	Microphthalmia, Hypospadias, Anophthalmia, Hypothyroidism, Phthisis bulbi, Septate vagina, Crypto...	OMIM:300166
Incontinentia Pigmenti	Eosinophilia, Microphthalmia, Supernumerary nipple	ORPHA:464
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Microphthalmia, Exocrine pancreatic insufficiency, Hypospadias	ORPHA:508498
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia	ORPHA:91495
Mend Syndrome	Microphthalmia, Cryptorchidism	ORPHA:401973
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior pituitary agenesi...	OMIM:610829
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Wolf-Hirschhorn Syndrome	Hypospadias, Accessory spleen, Aplasia of the uterus, Precocious puberty, Biliary tract abnormali...	OMIM:194190
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple	ORPHA:1521
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Supernumerary nipple	ORPHA:1236
Premature Aging Syndrome, Penttinen Type	Elevated circulating thyroid-stimulating hormone concentration, Microphthalmia	OMIM:601812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia	OMIM:253800
Yunis-Varon Syndrome	Clitoral hypertrophy, Microphthalmia, Bilateral microphthalmos, Hypospadias, Cardiomegaly, Crypto...	ORPHA:3472
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia, Increased hepatic echogenicity	OMIM:608940
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Microphthalmia With Limb Anomalies	Microphthalmia, Cryptorchidism, True anophthalmia	ORPHA:1106
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia	OMIM:607323
Okamoto Syndrome	Bifid uterus, Splenomegaly, Abnormally large globe	ORPHA:2729
Galloway-Mowat Syndrome 1	Microphthalmia, Hypoplasia of the iris	OMIM:251300
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Microphthalmia, Buphthalmos	OMIM:221900
Cockayne Syndrome Type 3	Microphthalmia, Hepatomegaly, Splenomegaly	ORPHA:90324
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Hypospadias, Optic nerve hypoplasia, Microphallus, Cryptorchidism	ORPHA:468631
Cat Eye Syndrome	Microphthalmia, Biliary atresia	OMIM:115470
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Aicardi Syndrome	Hepatoblastoma, Microphthalmia, Precocious puberty	OMIM:304050
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Steinfeld Syndrome	Absent gallbladder, Microphthalmia	OMIM:184705
Fontaine Progeroid Syndrome	Microphthalmia, Hypoplastic nipples, Absent nipple, Left ventricular hypertrophy, Small scrotum, ...	OMIM:612289
Townes-Brocks Syndrome	Delayed puberty, Microphthalmia, Hypospadias, Rectovaginal fistula, Hypoplasia of penis, Abnormal...	ORPHA:857
Focal Dermal Hypoplasia	Microphthalmia, Hypoplasia of the iris	ORPHA:2092
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Failure to thrive in infan...	ORPHA:99413
Mosaic Monosomy X	Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Failure to thrive in infan...	ORPHA:99228
Monosomy X	Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Failure to thrive in infan...	ORPHA:99226
Turner Syndrome	Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Failure to thrive in infan...	ORPHA:881
Norrie Disease	Delayed puberty, Microphthalmia, Erectile dysfunction, Uterine rupture, Aplasia/Hypoplasia of the...	ORPHA:649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Microphthalmia	OMIM:614643
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Oculoauricular Syndrome	Microphakia, Phthisis bulbi, Microphthalmia, Macular hypoplasia	OMIM:612109
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Myhre Syndrome	Microphthalmia, Cryptorchidism	OMIM:139210
Renpenning Syndrome 1	Decreased testicular size, Phimosis, Microphthalmia, Hypospadias	OMIM:309500
Linear Nevus Sebaceus Syndrome	Adenoma sebaceum, Microphthalmia	ORPHA:2612
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Enlarged labia minora, Microphthalmia, Hypospadias, Accessory spleen, Long ...	OMIM:268300
Histidinemia	Hyperactivity, Hyperhistidinemia	ORPHA:2157
Microphthalmia, Syndromic 6	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Adrenal hypoplasia, Abnormality of the hy...	OMIM:607932
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Phace Syndrome	Microphthalmia, Optic nerve hypoplasia, Hypothyroidism, Lens coloboma, Ectopic thyroid	ORPHA:42775
Focal Dermal Hypoplasia	Microphthalmia, Aniridia, Anophthalmia, Labial hypoplasia, Hypoplastic nipples, Clitoral hypoplas...	OMIM:305600
Neu-Laxova Syndrome 1	Microphthalmia, Bifid uterus, Cryptorchidism	OMIM:256520
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Pierson Syndrome	Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Rieger anomaly, Macular h...	OMIM:609049
Ehlers-Danlos Syndrome, Vascular Type	Anemia, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture	OMIM:130050
Adams-Oliver Syndrome 1	Microphthalmia, Imperforate hymen, Supernumerary nipple	OMIM:100300
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Leukemia, Anophthalmia	ORPHA:2526
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Microphthalmia	ORPHA:3186
Proboscis Lateralis	Optic nerve hypoplasia, Microphthalmia, External genital hypoplasia, Anophthalmia	ORPHA:141099
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Treacher Collins Syndrome 1	Bilateral microphthalmos, Abnormal parotid gland morphology, Cryptorchidism	OMIM:154500
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia	ORPHA:959
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Branchiooculofacial Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Duplication of internal organs, Ectopic thymus tissue,...	OMIM:113620
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia, Panhypopituitarism	OMIM:610828
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Hypospadias, Phimosis, Uni...	OMIM:613406
Holoprosencephaly 1	Microphthalmia, Adrenal hypoplasia, Micropenis, Diabetes insipidus	OMIM:236100
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Cryptorchidism, Aplasia of the uterus, Hypospadias	OMIM:135900
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Hypoplastic nipples, Small sc...	OMIM:276820
Lowe Oculocerebrorenal Syndrome	Microphthalmia, Cryptorchidism	OMIM:309000
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Hypothyroidism, Bifid ut...	OMIM:107480
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Hypospadias, Bifid scrotum, Asplenia, Chordee, Webbed penis, Septate vagina, Cryp...	ORPHA:261537
Mowat-Wilson Syndrome	Microphthalmia, Hypospadias, Bifid scrotum, Asplenia, Oligomenorrhea, Chordee, Webbed penis, Sept...	ORPHA:2152
Mowat-Wilson Syndrome	Microphthalmia, Hypospadias, Bifid scrotum, Cryptorchidism, Supernumerary nipple	OMIM:235730
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia	OMIM:259770
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Hypospadias, Bifid scrotum, Asplenia, Chordee, Webbed penis, Septate vagina, Cryp...	ORPHA:261552
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Peters-Plus Syndrome	Bilobate gallbladder, Hypospadias, Clitoral hypoplasia, Biliary tract abnormality, Hypoplasia of ...	OMIM:261540
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Peters Plus Syndrome	Hypospadias, Anterior hypopituitarism, Congenital hypothyroidism, Clitoral hypoplasia, Cryptorchi...	ORPHA:709
Pmm2-Cdg	Abnormal subcutaneous fat tissue distribution, Elevated circulating thyroid-stimulating hormone c...	ORPHA:79318
Neuroocular Syndrome	Microphthalmia, Hypoplasia of the fovea, Lens coloboma	OMIM:619539
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia	ORPHA:306542
Vascular Ehlers-Danlos Syndrome	Hypospadias, Uterine rupture, Uterine prolapse, Cystocele, Cryptorchidism	ORPHA:286
8Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Bilateral microphthalmos, Exocrine pancreatic insufficiency, Ectopic post...	ORPHA:508488
Pallister-Killian Syndrome	Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Small scrotum...	OMIM:601803
Holoprosencephaly 2	Microphthalmia, Adrenal hypoplasia, Anterior pituitary agenesis, Diabetes insipidus	OMIM:157170
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microphthalmia, Hemolytic anemia, Hypoplasia of the iris	OMIM:175780
Microphthalmia, Syndromic 1	Microphthalmia, Cryptorchidism, Hypospadias, Anophthalmia	OMIM:309800
Craniofacial Microsomia 1	Microphthalmia, Anophthalmia	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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Lymph node - MPATH pathological process term granulomatous inflammation	Mark4^em1(IMPC)Mbp	HOM		Late adult
Lung - MPATH pathological process term chronic inflammation	Mark4^em1(IMPC)Mbp	HOM		Late adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mark4.

No publications found that use IMPC mice or data for Mark4.

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

MGI Allele	Allele Type	Produced
Mark4^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Mark4^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Mark4^em1(IMPC)Mbp	Inter-exon deletion	Mice, Tissue
Mark4^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Mark4 MGI:1920955

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lacZ Expression

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Histopathology

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Histopathology

IMPC related publications

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