Gene Summary

Name:
interleukin 20 receptor beta
Synonyms:
Fndc6,  LOC213208,  Il20R2

IMPC Data Collections

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
hydrocephaly Il20rbtm1b(KOMP)Wtsi HOM Early adult 0.00
small superior vagus ganglion Il20rbem2(IMPC)Mbp HOM Early adult 0.00
abnormal brain morphology Il20rbtm1b(KOMP)Wtsi HOM Early adult 0.00
hydrometra Il20rbem2(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Il20rbem2(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Il20rbem2(IMPC)Mbp HOM Early adult 0.00
enlarged epididymis Il20rbem2(IMPC)Mbp HOM Early adult 0.00
increased circulating alanine transaminase level Il20rbem2(IMPC)Mbp HOM Early adult 2.87×10-05
abnormal epididymis morphology Il20rbem2(IMPC)Mbp HOM Early adult 0.00
decreased prepulse inhibition Il20rbem2(IMPC)Mbp HOM   Early adult 5.67×10-05
enlarged epididymis Il20rbtm1b(KOMP)Wtsi HET Early adult 0.00
increased circulating alanine transaminase level Il20rbtm1b(KOMP)Wtsi HOM Early adult 4.21×10-06
enlarged heart Il20rbem2(IMPC)Mbp HOM Early adult 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
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 0.0% (0 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)
Cerebellum 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)
Duodenum N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 100% (2 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
Ileum N/A heterozygote 0.0% (0 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver 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 Not available
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)
Penis N/A heterozygote 50% (1 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)
Prostate gland N/A heterozygote 50% (1 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 100% (2 of 2)
Small intestine N/A heterozygote 0.0% (0 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 100% (2 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)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 50% (1 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 100% (2 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)
Vas deferens N/A heterozygote Not available
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.

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

28 Images

X-ray

XRay Images Whole Body Dorso Ventral

20 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

20 Images

Human diseases caused by Il20rb mutations

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

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

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

The table below shows human diseases predicted to be associated to Il20rb by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Prostatic Hyperplasia, Benign
Benign prostatic hyperplasia OMIM:600082
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... OMIM:615615
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count OMIM:613495
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation, Elevated circulating creatine kinase concentration OMIM:607091
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko... OMIM:267500
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr... OMIM:618944
Ethanolaminosis
Cardiomegaly OMIM:227150
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno... OMIM:607271
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... OMIM:613494
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Abnorm... OMIM:617514
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Hydrocephalus OMIM:129850
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde concentration, Elevated circul... OMIM:266100
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... OMIM:312863
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... OMIM:300853
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... OMIM:613493
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy... OMIM:617241
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... OMIM:301082
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defective T c... OMIM:614493
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... OMIM:601859
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:240500
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Increased circulating IgE level, Lymphopenia, B lymphocytopenia, T lymph... ORPHA:277
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Kleeblattschaedel
Hydrocephalus OMIM:148800
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... ORPHA:983
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Increased circulating Interferon-alpha concentration, Splenomegaly, Thrombocyto... OMIM:615010
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... OMIM:600802
Immunodeficiency 96
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... OMIM:619774
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalaninemia, Optic d... OMIM:619170
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Lymph... ORPHA:169154
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Increased B cell count, Splenomega... OMIM:603909
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor... ORPHA:331206
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T... ORPHA:755
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... ORPHA:98813
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... ORPHA:101096
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Hemochromatosis, Type 1
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... OMIM:235200
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardi... OMIM:600649
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Fried Syndrome
Hydrocephalus ORPHA:85335
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... OMIM:618652
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased lymphocyte proliferation in response to mitogen, Abnormal CD4:CD8 ratio, Lack of T cell... ORPHA:572
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Immune Dysregulation, Autoimmunity, And Autoinflammation
Increased circulating interleukin 6 concentration, Anemia, Increased circulating interleukin 8 co... OMIM:620514
46,Xy Sex Reversal 3
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... OMIM:612965
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Hydrocephalus ORPHA:251915
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus, Elevated circulating creatine kinase concentration ORPHA:588
46,Xy Sex Reversal 11
Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female... OMIM:273250
Attrv30M Amyloidosis
Cardiomegaly, Abnormal autonomic nervous system physiology, Cardiomyopathy ORPHA:85447
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus OMIM:614120
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... ORPHA:35078
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... OMIM:308230
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal enteric ... ORPHA:85451
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Panhypoga... ORPHA:79124
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus OMIM:619301
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Increased CSF lactate, Elevated circulating 2-trans,4-cis-decadienoylcarnitine ... OMIM:616034
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creati... OMIM:300280
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Elevated circulating creatine kinase concentration OMIM:613155
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Hemophagocytosis, Abnormality of tumor necrosis f... ORPHA:158061
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Perica... OMIM:614702
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Alexander Disease
Increased CSF protein concentration, Hydrocephalus OMIM:203450
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Fatigable weakness, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardiomeg... ORPHA:42
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Hemophagocytosis, Abnormality of tumor necrosi... ORPHA:540
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Cardiomyopathy, Hypertrophic cardiomyopathy, Endoc... OMIM:212140
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus ORPHA:2182
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Abnormal circulating interleukin concentration, Reduced natural killer cell count, Hemophagocytos... ORPHA:158057
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Elevated circulating creatine kinase ... OMIM:613153
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Elevated circulating creatine kinase concentration OMIM:615181
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Ventriculomegaly, Hydrocephalus OMIM:610333
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Hydrocephalus OMIM:304100
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Hyperalaninemia, Hyperprolinemia OMIM:619064
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly OMIM:269920
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... OMIM:242700
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... ORPHA:99429
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,... ORPHA:90797
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia OMIM:619051
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Coach Syndrome 2
Elevated circulating creatinine concentration, Hydrocephalus OMIM:619111
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Elevated circulating creatine kinase concentration OMIM:618838
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph... ORPHA:324410
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Congenital Toxoplasmosis
Ventriculomegaly, Hydrocephalus ORPHA:858
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus OMIM:248000
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Hyperammonemia, Ventricular septal defect,... OMIM:620609
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly ORPHA:615
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... OMIM:618280
Mhc Class Ii Deficiency 1
Agammaglobulinemia, Cutaneous anergy, Neutropenia, Panhypogammaglobulinemia OMIM:209920
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus OMIM:602501
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Cardiomegaly, Left atrial enlargem... ORPHA:57777
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hydrocephalus OMIM:618577
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
Premature Ovarian Failure 7
Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis OMIM:612964
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
B4Galt1-Cdg
Decreased LDL cholesterol concentration, Hydrocephalus, Dandy-Walker malformation, Elevated circu... ORPHA:79332
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... OMIM:614837
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Hydrocephalus ORPHA:272
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis OMIM:253250
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased circulating carnitine concentration, Hypertrophic cardiomyopathy, Hyperammonemia, Eleva... OMIM:201475
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Elevated circulating cre... OMIM:613154
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Increased circulating ferritin concentration, Splenomegaly, Cardiomegaly, Hypogon... ORPHA:465508
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P... OMIM:618213
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration ORPHA:85435
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Timothy Syndrome
Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septal defect, Cardiomegaly OMIM:601005
Plasminogen Deficiency, Type I
Ventriculomegaly, Decreased level of plasminogen, Hydrocephalus, Dandy-Walker malformation OMIM:217090
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Micropenis, Hypospadias OMIM:616897
Nasu-Hakola Disease
Ventriculomegaly, Hydrocephalus ORPHA:2770
Thanatophoric Dysplasia Type 2
Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele ORPHA:93274
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Occipital encephalocele, Dilated fourth ventricle, Elevated circulating creatin... ORPHA:370959
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... ORPHA:168558
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Mogs-Cdg
Optic atrophy, Hepatosplenomegaly, External genital hypoplasia, Cardiomegaly, Left ventricular hy... ORPHA:79330
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... OMIM:115197
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilateral cryptorchidism, Ovaria... ORPHA:90793
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly, Hyperammonemia ORPHA:391428
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... ORPHA:289548
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus OMIM:276950
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hydrocephalus OMIM:601794
Carnitine Palmitoyltransferase I Deficiency
Hyperammonemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Transient hyper... OMIM:255120
Double Outlet Left Ventricle
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv... ORPHA:3427
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Increased ... OMIM:301000
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Abnormal circulating interleukin concentration ORPHA:319552
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricula... OMIM:617713
Chiari Malformation Type Ii
Myelomeningocele, Cervical myelopathy, Hydrocephalus, Spina bifida OMIM:207950
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:256550
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:542323
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Abnormal circulating copper concentration, Cardiomegaly, Abnormal circulat... OMIM:620306
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po... OMIM:258900
Krabbe Disease
Increased CSF protein concentration, Hydrocephalus OMIM:245200
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:611134
Temple Syndrome
Hypercholesterolemia, Hydrocephalus, Hypertriglyceridemia OMIM:616222
Nephronophthisis 18
Hydrocephalus OMIM:615862
Sweet Syndrome
Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor secretion, L... ORPHA:3243
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Encephalocele, Hydrocephalus, Meningocele, Holoprosencephaly, Anencephaly ORPHA:1908
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Pulmonic stenosis, Atr... ORPHA:3109
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Refsum Disease, Classic
Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy OMIM:266500
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentration ORPHA:85410
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Pancytopenia, Sp... OMIM:614576
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
46,Xx Sex Reversal 2
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... OMIM:278850
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Lymphopenia,... OMIM:613179
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Hydrocephalus OMIM:175700
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Hydrocephalus OMIM:218350
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus ORPHA:171839
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:225790
Temple Syndrome
Hydrocephalus ORPHA:254516
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus OMIM:241800
Thanatophoric Dysplasia
Ventriculomegaly, Hydrocephalus ORPHA:2655
Hemangioblastoma
Hydrocephalus ORPHA:252054
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Uterus didelphys, Abnormal heart morphology, Septate vagina, Hypocalcemia, Aplasia of the uterus,... ORPHA:2237
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... ORPHA:83628
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Elevated circulating creatine kinase concentration OMIM:615249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Ventriculomegaly, Hydrocephalus, Elevated circulating creatine kinase concentration OMIM:616538
Danon Disease
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating cr... OMIM:300257
Houge-Janssens Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:616362
Houge-Janssens Syndrome 1
Ventriculomegaly, Hydrocephalus OMIM:616355
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo... OMIM:202010
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Brachial plexus neuropathy, Right ventricular hypertrophy, Elevated circulating cre... ORPHA:268
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Hydrocephalus OMIM:609757
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hydrocephalus OMIM:109120
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Increased total bilirubin, Elevated circulating creatinine concentration,... OMIM:608836
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:615630
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Ventriculomegaly, Hyperhomocystinemia, Hypomethioninemia ORPHA:2169
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Arachnoiditis
Hydrocephalus ORPHA:137817
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Hydrocephalus OMIM:620157
Albers-Schönberg Osteopetrosis
Hydrocephalus, Hypocalcemia ORPHA:53
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus OMIM:614195
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Decreased plasma free carnitine... ORPHA:228308
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Griscelli Syndrome
Hydrocephalus, Encephalocele, Abnormal circulating lipid concentration ORPHA:381
Pseudo-Torch Syndrome 3
Cardiomegaly, Increased circulating ferritin concentration OMIM:618886
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement, Hypophosphatemic rickets OMIM:614473
Glutaric Acidemia I
Hydrocephalus, Elevated circulating glutaric acid concentration, Lateral ventricle dilatation OMIM:231670
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Colpocephaly, Hydrocephalus OMIM:619833
Crouzon Syndrome
Hydrocephalus ORPHA:207
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Colpocephaly, Communicating hydrocephalus, Hydrocephalus OMIM:615219
Acquired Aneurysmal Subarachnoid Hemorrhage
Increased CSF lactate, Hypercholesterolemia, Hydrocephalus, Hyperglycorrhachia ORPHA:90065
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly ORPHA:99931
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... OMIM:620642
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia, Atretic vas deferens, Epididymal cy... OMIM:137920
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Colpocephaly, Hydrocephalus OMIM:620156
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous sy... OMIM:105210
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia, Hydrocephalus OMIM:614886
Walker-Warburg Syndrome
Ventriculomegaly, Abnormal circulating creatine kinase concentration, Hydrocephalus, Dandy-Walker... ORPHA:899
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Pseudopapilledema, Aplasia of the vagina, Aplasia of the uterus OMIM:146255
Glycogen Storage Disease Ii
Splenomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased circula... OMIM:232300
Histiocytosis-Lymphadenopathy Plus Syndrome
Azoospermia, Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Ventricular septal defect, ... OMIM:602782
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation OMIM:220210
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventriculomegaly, Hydrocephalus OMIM:603387
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Fatigable weakness of skel... ORPHA:284339
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... ORPHA:363705
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Triploidy
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:3376
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Hereditary Orotic Aciduria
Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Bresek Syndrome
Hydrocephalus ORPHA:85284
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Hyperlipidemia... ORPHA:157
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Le... ORPHA:308552
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Labial hypertrophy, Cryptorchidism, Ventricular septal defect, Cardiomegaly, ... ORPHA:96191
Pettigrew Syndrome
Aqueductal stenosis, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:304340
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Hydrocephalus OMIM:219730
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Orthostatic hypotension OMIM:268800
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Optic atrophy, Cardiomyopathy OMIM:619259
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Ventriculomegaly, Hypocalcemia, Dandy-Walker malformation OMIM:618476
Multiple Sulfatase Deficiency
Increased CSF protein concentration, Ventriculomegaly, Hydrocephalus OMIM:272200
Gracile Bone Dysplasia
Hydrocephalus, Hypocalcemia OMIM:602361
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:60040
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Muenke Syndrome
Hydrocephalus ORPHA:53271
T-Cell Immunodeficiency With Thymic Aplasia
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,... ORPHA:83471
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Ventric... OMIM:614921
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:1647
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Aplasia of the uterus, Abnormal cardiac septum morphology ORPHA:3320
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Holoprosencephaly... OMIM:619895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Holoprosencephaly, Encephalocele, Elevated circulating creatine kinase concentration OMIM:253800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Ventriculomegaly, Encephalocele, Elevated circulating creatine kinase concentration, Hydrocephalu... OMIM:614643
Emanuel Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:609029
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Enlarged polycystic ovaries, Ambig... ORPHA:90796
Diabetic Embryopathy
Spinal dysraphism, Hydrocephalus ORPHA:1926
Joubert Syndrome 14
Hydrocephalus, Meningocele, Encephalocele, Dandy-Walker malformation OMIM:614424
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Ventriculomegaly, Encephalocele, Elevated circulating creatine kinase concentration OMIM:613150
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly, Cryptorchidism OMIM:618143
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Von Hippel-Lindau Disease
Cardiomyopathy, Papilledema, Myocarditis, Epididymal cyst, Papillary cystadenoma of the epididymis ORPHA:892
Hydrolethalus
Anencephaly, Hydrocephalus ORPHA:2189
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:612582
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Choroid plexus cyst, Hydrocephalus OMIM:617866
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Hydrocephalus ORPHA:77298
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration ORPHA:69665
3C Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:7
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Emanuel Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:96170
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ventriculomegaly, Cystathioninemia, Hypomethioninemia, Hydrocephalus, Hyperhomocystinemia ORPHA:395
1Q44 Microdeletion Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:238769
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617822
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Cryptorchidism, Cardiom... OMIM:130650
Thanatophoric Dysplasia Type 1
Ventriculomegaly, Hydrocephalus ORPHA:1860
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Dandy-Walker malformation OMIM:612938
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Trisomy 1Q
Ventriculomegaly, Hydrocephalus ORPHA:261344
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
Naxos Disease
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... OMIM:601214
Hypoplasminogenemia
Decreased level of plasminogen, Hydrocephalus, Dandy-Walker malformation ORPHA:722
Infection-Related Hemolytic Uremic Syndrome
Abnormal circulating chemokine concentration, Brain abscess, Leukocytosis, Thrombocytopenia, Incr... ORPHA:544482
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia, Single ventricle OMIM:619879
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus, Hypocalcemia OMIM:259700
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Rhombencephalosynapsis
Ventriculomegaly, Hydrocephalus ORPHA:59315
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus, Mildly elevated creatine kinase OMIM:620351
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:459061
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Spina bifida occulta, Hydrocephalus OMIM:613686
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in females, Decreased testicular size, Ambig... ORPHA:90794
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Impaired T cell function OMIM:201100
Pontocerebellar Hypoplasia, Type 7
Ventriculomegaly, Hydrocephalus OMIM:614969
Tenorio Syndrome
Ventriculomegaly, Hydrocephalus OMIM:616260
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Von Hippel-Lindau Syndrome
Epididymal cyst, Papillary cystadenoma of the epididymis OMIM:193300
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Oeis Complex
Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... OMIM:258040
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... OMIM:245600
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Trisomy 17P
Hydrocephalus ORPHA:261290
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Ventriculomegaly, Dilated third ventricle, Hydrocephalus ORPHA:500055
Peho Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:2836
Histiocytoid Cardiomyopathy
Optic atrophy, Ventricular septal defect, Cardiomegaly, Polycystic ovaries, Hepatomegaly ORPHA:137675
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets OMIM:208000
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... ORPHA:14
Mirage Syndrome
Hyponatremia, Hyperkalemia, Hydrocephalus OMIM:617053
Joubert Syndrome With Oculorenal Defect