Gene Summary

Name:
tryptophan 2,3-dioxygenase
Synonyms:
TDO,  TO,  chky

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased heart weight Tdo2tm1b(KOMP)Mbp HET Early adult 2.00×10-05
abnormal uterus morphology Tdo2tm1b(KOMP)Mbp HET Early adult 0.00
abnormal heart morphology Tdo2tm1b(KOMP)Mbp HET Early adult 0.00
preweaning lethality, incomplete penetrance Tdo2tm1b(KOMP)Mbp HOM   Early adult 0.00
enlarged heart Tdo2tm1b(KOMP)Mbp HET Early adult 0.00
hydrometra Tdo2tm1b(KOMP)Mbp HET Early adult 0.00
abnormal embryo size Tdo2tm1b(KOMP)Mbp HOM E15.5 0.00
increased prepulse inhibition Tdo2tm1b(KOMP)Mbp HET   Early adult 1.78×10-06
edema Tdo2tm1b(KOMP)Mbp HOM E15.5 0.00
microphthalmia Tdo2tm1b(KOMP)Mbp HOM E15.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Cerebellum  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Liver  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Gross Morphology Embryo E14.5-E15.5

Images

20 Images

Adult LacZ

LacZ Images Section

24 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Tdo2 mutations

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

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

The table below shows human diseases associated to Tdo2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertryptophanemia
Depression, Emotional lability, Tryptophanuria, Hypersexuality, Increased serum serotonin, Aggres... OMIM:600627

The table below shows human diseases predicted to be associated to Tdo2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Ethanolaminosis
Cardiomegaly OMIM:227150
Lipedema
Edema OMIM:614103
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Microphthalmia, Edema OMIM:616570
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Gombo Syndrome
Microphthalmia OMIM:233270
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,... OMIM:620135
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Lissencephaly 4
Lissencephaly, Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum OMIM:614019
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Band Heterotopia
Hydrocephalus, Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum, Lateral vent... OMIM:600348
Nanophthalmos
Microphthalmia ORPHA:35612
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:291
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Microphthalmia OMIM:609054
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Colpocephaly, Lissencephaly, Ventriculomegaly ORPHA:2185
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Polymicrogyria Due To Tubb2B Mutation
Abnormal temper tantrums, Polymicrogyria, Gray matter heterotopia, Perisylvian polymicrogyria, Ag... ORPHA:300573
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Xk Aprosencephaly Syndrome
Microphthalmia, Polyhydramnios ORPHA:3469
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia OMIM:218670
Microphthalmia, Isolated 5
Cystoid macular edema, Microphthalmia OMIM:611040
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
46,Xy Sex Reversal 11
Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G... OMIM:273250
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis OMIM:618773
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology, Depression ORPHA:73256
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Mmep Syndrome
Microphthalmia ORPHA:3434
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s... OMIM:618652
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo... OMIM:609637
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi... ORPHA:755
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria OMIM:614870
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation, Microphthalmia OMIM:616171
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Meckel Syndrome, Type 8
Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Pericardial effusion OMIM:613885
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma ORPHA:615
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Intellectual Developmental Disorder, X-Linked 103
Polymicrogyria, Lateral ventricle dilatation OMIM:300982
Congenital Toxoplasmosis
Intrauterine growth retardation, Microphthalmia, Ascites ORPHA:858
Lymphatic Malformation 7
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... OMIM:617300
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Cofs Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1466
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia ORPHA:324416
Cat-Eye Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:195
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Hypertryptophanemia
Depression, Emotional lability, Tryptophanuria, Hypersexuality, Increased serum serotonin, Aggres... OMIM:600627
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... ORPHA:1916
Hemochromatosis, Type 1
Hepatomegaly, Azoospermia, Cardiomyopathy, Testicular atrophy, Splenomegaly, Cardiomegaly, Hypogo... OMIM:235200
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
Ovarian Dysgenesis 2
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:300510
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Ventriculomegaly, Hyperlysinuria, Colpocephaly OMIM:616034
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus OMIM:612964
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Polyhydramnios ORPHA:2547
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu... ORPHA:90797
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Inappropriate behavior, Abnormal upper motor neuron morphology, Disinhibition, Lateral ventricle ... OMIM:221770
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Infantile Sialic Acid Storage Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:269920
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
17Q12 Microduplication Syndrome
Microphthalmia, Polyhydramnios ORPHA:261272
Hartsfield Syndrome
Intrauterine growth retardation, Microphthalmia, Encephalocele ORPHA:2117
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le... OMIM:300280
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Cardiac-Urogenital Syndrome
Enlarged kidney, Mesocardia, Aplasia of the uterus, Coronary sinus enlargement, Bifid scrotum, Dy... OMIM:618280
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Hemiparkinsonism-Hemiatrophy Syndrome
Depression, Lateral ventricle dilatation ORPHA:306669
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Pulmonic stenosis, Hypoplasia of the vagina,... ORPHA:3109
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the... OMIM:614841
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy OMIM:614702
Joubert Syndrome 22
Intrauterine growth retardation, Microphthalmia OMIM:615665
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom... ORPHA:324410
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Meacham Syndrome
Hydrometrocolpos, Situs inversus totalis, Transposition of the great arteries, Abnormal fallopian... ORPHA:3097
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Fatigable weakness of neck muscles, Hepatomegaly, Fatigable weakness ORPHA:42
Attrv122I Amyloidosis
Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valve stenos... ORPHA:85451
Mulibrey Nanism
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction OMIM:253250
Leukoencephalopathy, Progressive, With Ovarian Failure
Depression, Lateral ventricle dilatation OMIM:615889
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... OMIM:115197
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... ORPHA:3077
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci... OMIM:265300
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Endocardial fibroelastosis OMIM:212140
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:48431
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp... OMIM:614837
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Ventriculomegaly, Motor stereotypy, Lateral ventricle dilatation OMIM:613443
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Pierpont Syndrome
Microphthalmia ORPHA:487825
Perrault Syndrome 3
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:614129
Lissencephaly 8
Occipital encephalocele, Microphthalmia OMIM:617255
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Neuraminidase Deficiency
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:256550
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary aminoisobutyric acid, Beta-alaninuria, Periventricular heterotopia, Lateral vent... OMIM:614105
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Irritability, Hydrocephalus, Colpocephaly, Self-injurious behavior, Ventriculomegaly, Periventric... OMIM:619833
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Hydrocephalus, Gray matter heterotopia, Communicating hydrocephalus, Colpocephaly, Simplified gyr... OMIM:615219
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Pierpont Syndrome
Microphthalmia OMIM:602342
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Oligohydramnios OMIM:619053
Timothy Syndrome
Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot OMIM:601005
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Meckel Syndrome, Type 2
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Intrauterine growth retardation OMIM:603194
Meckel Syndrome, Type 5
Occipital encephalocele, Microphthalmia, Anencephaly OMIM:611561
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Simplified gyral pattern, Lateral ventricle dilatation OMIM:617668
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Intrauterine growth retardation, Microphthalmia, Oligohydramnios, Encephalocele ORPHA:228390
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Polymicrogyria, Colpocephaly OMIM:618731
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Vaginal Atresia
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... ORPHA:65681
Microphthalmia-Brain Atrophy Syndrome
Tongue thrusting, Lateral ventricle dilatation ORPHA:77299
Pontocerebellar Hypoplasia, Type 1A
Degeneration of anterior horn cells, Dysphagia, Lateral ventricle dilatation OMIM:607596
Premature Ovarian Failure 6
Streak ovary, Hypoplasia of the uterus OMIM:612310
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Congenital Rubella Syndrome
Intrauterine growth retardation, Microphthalmia, Aplasia/Hypoplasia of the iris ORPHA:290
Hydrolethalus
Microphthalmia, Polyhydramnios, Anencephaly, Anophthalmia ORPHA:2189
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect, Micropenis OMIM:616897
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619203
Congenital Primary Aphakia
Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita... ORPHA:83461
Temtamy Syndrome
Microphthalmia ORPHA:1777
Trisomy 13
Microphthalmia, Hydrops fetalis, Anophthalmia, Intrauterine growth retardation, Aplasia/Hypoplasi... ORPHA:3378
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Restlessness, Partial agenesis of the corpus callosum, Lateral ventricle dilatation OMIM:619517
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619665
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Polymicrogyria, Dilated fourth ventricle, Motor stereotypy, Lateral ventricle dila... OMIM:617751
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... OMIM:231005
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation OMIM:620315
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Frontonasal Dysplasia 1
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele OMIM:136760
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620156
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Uterus didelphys, Abnormal heart morphology, Vaginal atresia, Septate vagina ORPHA:2237
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1438
Cerebrooculofacioskeletal Syndrome 2
Intrauterine growth retardation, Microphthalmia OMIM:610756
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Dehydration OMIM:214150
Familial Exudative Vitreoretinopathy
Microphthalmia, Macular edema, Lymphedema ORPHA:891
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia... OMIM:278850
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Meckel Syndrome, Type 4
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Intrauterine growth retardation OMIM:611134
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp... ORPHA:2334
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Bilateral Generalized Polymicrogyria
Oral-pharyngeal dysphagia, Self-injurious behavior, Motor stereotypy, Lateral ventricle dilatation ORPHA:208447
Monosomy 18P
Microphthalmia, Lymphedema ORPHA:1598
Bresek Syndrome
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Adams-Oliver Syndrome 2
Microphthalmia, Oligohydramnios OMIM:614219
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Irritability, Agitation, Agyria, Dysphagia, Pachygyria, Lateral ventricle dilatation ORPHA:2148
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Lymphedema OMIM:152950
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lissencephaly, Simplified gyral pattern, Lateral ventricle dilatation ORPHA:284417
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly ORPHA:99931
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Agenesis of corpus callosum, Dandy-Walker malformation, Spina bifida occulta, Lateral ventricle d... OMIM:618736
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Cach Syndrome
Dysgyria, Irritability, Dysphagia, Lateral ventricle dilatation ORPHA:135
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Martsolf Syndrome 2
Lateral ventricle dilatation OMIM:619420
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Lumbar Syndrome
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... ORPHA:83628
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Satoyoshi Syndrome
Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Gracile Bone Dysplasia
Microphthalmia, Ascites, Aniridia OMIM:602361
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Oligohydramnios, Increased nuchal translucency OMIM:618494
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Microphthalmia OMIM:300863
Pyruvate Dehydrogenase E1-Alpha Deficiency
Polymicrogyria, Agenesis of corpus callosum, Lateral ventricle dilatation, Ventriculomegaly, Part... ORPHA:79243
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:201475
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Mogs-Cdg
Hepatomegaly, External genital hypoplasia, Hepatosplenomegaly, Left ventricular hypertrophy, Card... ORPHA:79330
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Tetralogy of Fallot, Abnormal cardiac septum morphology ORPHA:3320
Multiple Benign Circumferential Skin Creases On Limbs
Edema, Microphthalmia, Umbilical hernia ORPHA:2505
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Agitation, Polyphagia, Disinhibition, Lateral ventricle dilatation, Repetitive compulsive behavio... OMIM:607485
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... OMIM:306955
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cardiomyopathy, Testicular atrophy, Splenomegaly, Cardiomegaly, Hypogonadotropic hy... ORPHA:465508
Anterior Segment Dysgenesis 2
Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia OMIM:610256
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Bruxism, Lateral ventricle dilatation OMIM:615716
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Left ventricular hypertrophy, Ca... ORPHA:57777
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Developmental And Epileptic Encephalopathy 31B
Irritability, Choking episodes, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620352
Lymphedema-Distichiasis Syndrome
Microphthalmia, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops f... OMIM:153400
Joubert Syndrome 3
Frontal polymicrogyria, Enlarged fossa interpeduncularis, Lateral ventricle dilatation OMIM:608629
Craniosynostosis 6
Agenesis of corpus callosum, Dandy-Walker malformation, Spina bifida occulta, Lateral ventricle d... OMIM:616602
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Dilated third ventricle, Simplified gyral pattern, Agenesis of corpus callosum, Lateral ventricle... OMIM:619244
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:618804
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Motor stereotypy, Lateral ventricle dilatation, Self-injurious behavior, Aggressive ... OMIM:618914
Pelvis-Shoulder Dysplasia
Microphthalmia, Spina bifida occulta OMIM:169550
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Ventriculomegaly, Perisylvian polymicrogyria, Spina bifida occulta, Lateral ventricle dilatation OMIM:618291
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Microcephaly 20, Primary, Autosomal Recessive
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia OMIM:617914
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Danon Disease
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... OMIM:300257
Perrault Syndrome 4
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus OMIM:615300
Matthew-Wood Syndrome
Intrauterine growth retardation, Microphthalmia, Anophthalmia ORPHA:2470
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Truncus arteriosus, Bicornuate uterus, Cryptorchidism, Pulmonic stenosis... OMIM:601186
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus... ORPHA:363705
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cryptorchidism, Precocious puberty, Cardiomegaly, Ventricular septal defect, Labial... ORPHA:96191
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Intrauterine growth retardation, Microphthalmia ORPHA:163966
Intellectual Developmental Disorder, Autosomal Dominant 56
Attention deficit hyperactivity disorder, Impulsivity, Lateral ventricle dilatation OMIM:617854
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology ORPHA:247768
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Dandy-Walker malformation, Type II lissencephaly, Dilated third ventricle, Lateral... OMIM:613154
Seckel Syndrome 2
Microphthalmia OMIM:606744
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Azoospermia, Hypergonadotropic hypogonadism, Pulmonic stenosis, Hepatosplenomegaly,... OMIM:602782
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:168558
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia ORPHA:370959
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Hyperactivity, Self-injurious behavior, Lateral ventricle dilatation, Aggressive behavior OMIM:620075
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Aplasia of the uterus, Aplasia of the vagina OMIM:146255
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Glandular hypospadias OMIM:620306
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Rere-Related Neurodevelopmental Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:494344
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:289548
Townes-Brocks Syndrome 2
Bifid uterus, Hypospadias, Rectovaginal fistula OMIM:617466
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Emotional lability, Polymicrogyria, Type II lissencephaly, Simplif... ORPHA:300570
Pseudo-Torch Syndrome 2
Polymicrogyria, Ventriculomegaly, Gray matter heterotopia, Lateral ventricle dilatation OMIM:617397
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Agonadism, Hypoplas... OMIM:154230
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Heart And Brain Malformation Syndrome
Microphthalmia, Polyhydramnios OMIM:616920
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus, Single ventricle OMIM:619879
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ovary, Female hypogon... ORPHA:432
Joubert Syndrome 37
Microphthalmia OMIM:619185
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Rodrigues Blindness
Microphthalmia OMIM:268320
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia OMIM:609053
Sandhoff Disease
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:268800
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia OMIM:301108
Trichothiodystrophy 3, Photosensitive
Intrauterine growth retardation, Microphthalmia OMIM:616395
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Histiocytoid cardiomyopat... OMIM:309801
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Microcephaly-Micromelia Syndrome
Intrauterine growth retardation, Microphthalmia, Oligohydramnios OMIM:251230
Temtamy Syndrome
Microphthalmia OMIM:218340
Galloway-Mowat Syndrome 3
Intrauterine growth retardation, Microphthalmia, Oligohydramnios, Edema OMIM:617729
Weiss-Kruszka Syndrome
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:618619
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Frontofacionasal Dysplasia
Microphthalmia, Encephalocele ORPHA:1791
Fetal Alcohol Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1915
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... ORPHA:90796
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Halperin-Birk Syndrome
Semilobar holoprosencephaly, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Pseudob... OMIM:618651
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Moebius Syndrome
Microphthalmia OMIM:157900
Porphyria Due To Ala Dehydratase Deficiency
Depression, Agitation, Abnormal fear-induced behavior, Restlessness ORPHA:100924
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla... OMIM:202010
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Polyhydramnios, Septo-optic dysplasia ORPHA:3301
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... OMIM:620066
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... OMIM:261740
Mosaic Trisomy 9
Microphthalmia, Polyhydramnios, Hydrops fetalis, Spina bifida, Intrauterine growth retardation, O... ORPHA:99776
Vacterl With Hydrocephalus
Microphthalmia, Polyhydramnios, Anophthalmia, Spina bifida, Intrauterine growth retardation ORPHA:3412
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:603903
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Pancreatic hyperplasia, Cardiomegaly, Overgrowth o... OMIM:130650
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly, Cryptorchidism OMIM:618143
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Dysphagia, Lateral ventricle dilatation, Ventriculomegaly, Aggressive... ORPHA:488627
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Frontonasal Dysplasia 2
Intrauterine growth retardation, Microphthalmia, Oligohydramnios, Encephalocele OMIM:613451
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:308552
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation OMIM:600721
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Periventricular heterotopia, Colpocephaly, Dysphagia ORPHA:261250
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus OMIM:615363
Chondrodysplasia Punctata 2, X-Linked Dominant
Edema, Microphthalmia, Polyhydramnios OMIM:302960
Adams-Oliver Syndrome
Microphthalmia, Ascites, Encephalocele ORPHA:974
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1352
Marden-Walker Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:248700
Joubert Syndrome 14
Microphthalmia, Encephalocele, Meningocele OMIM:614424
Pierson Syndrome
Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Rieger anomaly, Edema, Ol... OMIM:609049
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Umbilical hernia ORPHA:369891
Microphthalmia/Coloboma 12
Microphthalmia, Optic nerve aplasia OMIM:120200
Estrogen Resistance Syndrome
Hypoplasia of the uterus, Enlarged polycystic ovaries ORPHA:785
Congenital Disorder Of Glycosylation, Type It
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect OMIM:614921
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Intrauterine growth retardation, Microphthalmia ORPHA:2728
Pontocerebellar Hypoplasia Type 7
Gonadal dysgenesis, Clitoral hypertrophy, Fatigable weakness of skeletal muscles, Abnormal scrota... ORPHA:284339
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cardiomegaly, Enlarged kidney, Hepatomegaly, Dilated cardiomyopathy OMIM:608836
Fanconi Anemia, Complementation Group F
Intrauterine growth retardation, Microphthalmia, Polyhydramnios OMIM:603467
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Gaucher Disease, Perinatal Lethal
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:608013
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia, Severe intrauterine growth retardation OMIM:241410
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,... OMIM:245600
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Head-banging, Dilated third ventricle, Frequent temper tantrums, Lateral ventricle... OMIM:619575
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Oeis Complex
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... OMIM:258040
Garg-Mishra Progeroid Syndrome
Microphthalmia OMIM:620601
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Norrie Disease