banner
Genes Phenotypes Help, News, Blog

Gene: Egfl8 MGI:1932094

Log in to follow

Gene Summary

Name:
EGF-like domain 8
Synonyms:
NG3

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
hydrocephaly Egfl8tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal brain morphology Egfl8tm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged epididymis Egfl8tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal epididymis morphology Egfl8tm1.1(KOMP)Vlcg HOM Early adult 0.00
hyperactivity Egfl8tm1.1(KOMP)Vlcg HOM Early adult 2.39×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Diaphragm  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Trigeminal V nerve  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 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)
Duodenum 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
Ileum N/A heterozygote 0.0% (0 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 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 Not available
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 Not available
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
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 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)
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.

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
Adult LacZ

LacZ Images Section

12 Images

View images
X-ray

XRay Images Forepaw

9 Images

View images
X-ray

XRay Images Skull Lateral Orientation

9 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
X-ray

XRay Images Hind Leg and Hip

9 Images

View images

Human diseases caused by Egfl8 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 Egfl8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus OMIM:209970
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Schizophrenia 15
Hyperactivity OMIM:613950
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormal repetitive mannerisms, Ventriculomegaly, Attention deficit hyperactivity ... OMIM:618709
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele, Attention deficit hyperactivity disorder ORPHA:261102
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Hypospadias, Attention deficit hyperactivity disorder ORPHA:250994
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Hydrocephalus, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619470
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bicornuate uterus OMIM:258320
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ventriculomegaly OMIM:613402
Central Precocious Puberty In Male
Abnormality of the testis size, Aggressive behavior, Hydrocephalus, Attention deficit hyperactivi... ORPHA:649929
Biemond Syndrome Type 2
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism, Hypospadias ORPHA:141333
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Ventriculomegaly OMIM:301107
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Radial Aplasia, X-Linked
Hydrocephalus, Penile hypospadias OMIM:312190
Morm Syndrome
Hyperactivity, Micropenis, Aggressive behavior ORPHA:75858
Diencephalic Syndrome
Hydrocephalus, Long penis ORPHA:1672
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Fried Syndrome
Hydrocephalus, Aggressive behavior ORPHA:85335
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Self-mutilation OMIM:300884
47,Xyy Syndrome
Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoosper... ORPHA:8
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Kleeblattschaedel
Hydrocephalus OMIM:148800
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus OMIM:300886
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Aggressive behavior, Hydrocephalus, Agitation OMIM:300558
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism OMIM:601794
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism ORPHA:2183
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty, Hyperactivity, Ventriculomegaly, Aggressive behavior ORPHA:457260
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Hypoplastic female external genitalia, Ventriculomegaly OMIM:618577
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Temple Syndrome
Precocious puberty, Cryptorchidism, Hydrocephalus, Polyphagia ORPHA:254516
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Nasu-Hakola Disease
Hydrocephalus, Disinhibition, Ventriculomegaly ORPHA:2770
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Myelomeningocele, Attention deficit hyperactivit... OMIM:620141
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Impulsivity, Aggressive behavior, Cryptorchidism, Hydrocephalus, Obsessive-compulsive trait, Hypo... ORPHA:500055
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Attention deficit hyperactivity disorder OMIM:609757
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity, Impulsivity OMIM:300143
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hydrocephalus, Hypospadias, Ventriculomegaly OMIM:175700
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Hydrocephalus, Hypospadias, Ventriculomegaly OMIM:218350
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... OMIM:616034
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Micropenis, Hypospadias, Hydrocephalus ORPHA:171839
Alexander Disease Type I
Hydrocephalus, Dysphagia ORPHA:363717
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Dysphagia ORPHA:163961
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism, Communicating hydrocephalus ORPHA:1237
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly OMIM:304100
Optic Pathway Glioma
Precocious puberty, Hydrocephalus ORPHA:2086
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
Triploidy
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, ... ORPHA:3376
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Restless legs, Hydrocephalus ORPHA:99947
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Pallister-Hall-Like Syndrome
Occipital encephalocele, Micropenis, Hydrocephalus OMIM:241800
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Small scrotum, Cryptorchidism, Microphallus, Micropenis, Abnormal repetitive manne... OMIM:300486
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Dysphagia OMIM:207950
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Holoprosencephaly ORPHA:77298
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hydrocephalus ORPHA:2701
Temple Syndrome
Precocious puberty, Cryptorchidism, Hydrocephalus, Decreased testicular size OMIM:616222
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly ORPHA:272
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Diabetic Embryopathy
Cryptorchidism, Hydrocephalus, Spinal dysraphism, Micropenis, Abnormal morphology of female inter... ORPHA:1926
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Hyperactivity, Aggressive behavior ORPHA:85327
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Genitopalatocardiac Syndrome
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Hydrocephalus, Gonadal dysgenesis, male ORPHA:2075
Pettigrew Syndrome
Ventriculomegaly, Aggressive behavior, Aqueductal stenosis, Hydrocephalus, Self-injurious behavio... OMIM:304340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Bresek Syndrome
Cryptorchidism, Hydrocephalus, Decreased testicular size ORPHA:85284
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly ORPHA:93274
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Gorlin Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:377
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus OMIM:613155
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Ventriculomegaly, Self-biting OMIM:618314
Intellectual Developmental Disorder, Autosomal Dominant 65
Attention deficit hyperactivity disorder, Noncommunicating hydrocephalus, Compulsive behaviors, A... OMIM:619320
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Aggressive behavior, Hydrocephalus, Self-injurious behavior, Colpocephaly, Ventriculomegaly OMIM:619833
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Hydrolethalus
Cryptorchidism, Hydrocephalus, Anencephaly, Abnormal fallopian tube morphology ORPHA:2189
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Rectovaginal fistula, Perineal fistula ORPHA:3016
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Hypospadias, Dandy-Walker malformation OMIM:220210
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:310400
Trisomy 1Q
Small scrotum, Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Ventriculomegaly ORPHA:261344
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Bifid uterus ORPHA:2736
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele ORPHA:2119
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly ORPHA:1908
Coach Syndrome 2
Hydrocephalus OMIM:619111
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus OMIM:276950
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:611134
Pontocerebellar Hypoplasia, Type 7
Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Micropenis, Ventriculomegaly OMIM:614969
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Nephronophthisis 18
Hydrocephalus OMIM:615862
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Hydrocephalus, Hypogonadism, Micropenis, Ventriculomegaly OMIM:300514
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
Emanuel Syndrome
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Hypogonadism, Dysphagia, Micropenis, Dandy-Walke... ORPHA:96170
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Abnormal fallopian tube morphology, Abnormality of the ovary, Dandy-Wa... ORPHA:722
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Small scrotum, Hydrocephalus, Micropenis, Dandy-Walker malformation OMIM:617822
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Hydrocephalus, Microphallus, Shawl s... OMIM:617053
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hydrocephalus, Hypospadias OMIM:601499
Oculocerebrocutaneous Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Hogue-Janssen Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:616362
Emanuel Syndrome
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Micropenis, Dandy-Walker malformation OMIM:609029
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Isosexual precocious puberty, Enlarged polycystic ovaries, Hydrocep... ORPHA:91348
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:370959
Fg Syndrome Type 1
Hypospadias, Cryptorchidism, Hydrocephalus, Compulsive behaviors, Attention deficit hyperactivity... ORPHA:93932
Rhombencephalosynapsis
Hydrocephalus, Abnormality of the uterus, Ventriculomegaly ORPHA:59315
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:225790
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Cryptorchidism, Hydrocephalus, Sex reversal, Microphallus, Holoprosen... OMIM:612651
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormality of the male genitalia, Hydrocephalus OMIM:614886
3C Syndrome
Hypoplasia of penis, Ventriculomegaly, Hypospadias, Hydrocephalus, Dandy-Walker malformation ORPHA:7
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly OMIM:109120
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:612938
Meckel Syndrome, Type 6
Abnormal internal genitalia, Occipital encephalocele, Anencephaly, Hydrocephalus OMIM:612284
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Hyperglycorrhachia, Addictive alcohol use, Increased CSF lactate ORPHA:90065
Hemangioblastoma
Hydrocephalus ORPHA:252054
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Dandy-Walker malformation, Attention deficit hyperactivity disorder ORPHA:459061
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Gracile Bone Dysplasia
Micropenis, Hydrocephalus OMIM:602361
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Walker-Warburg Syndrome
Hypoplasia of penis, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation ORPHA:899
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Head-banging, Self-injurious behavior, Lateral ventricle dilatation, Attention def... OMIM:619575
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Crouzon Syndrome
Hydrocephalus ORPHA:207
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Ventriculomegaly, Hypospadias, Cryptorchidism, Hydrocephalus, Ambiguous genitalia,... OMIM:257300
Pseudotrisomy 13 Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Bicornuate uterus, Holoprosencephaly, Micropenis OMIM:264480
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cryptorchidism, Hypoplasia of penis, Hydrocephalus, Ventriculomegaly ORPHA:1812
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Mye... OMIM:258040
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Hypospadias, Aggressive behavior, Cryptorchidism, Hydrocephalus, Po... ORPHA:96121
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Inappropriate laughter, Hydrocephalus, Dandy-Walker malformation OMIM:618476
Arachnoiditis
Hydrocephalus ORPHA:137817
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Hydrocephalus, Hydranencephaly, Spina bifida ORPHA:2839
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Cryptorchidism, Micropenis, Hydrocephalus OMIM:619951
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Cryptorchidism, Hydrocephalus, Prominent scrotal raphe ORPHA:1555
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Lowry-Maclean Syndrome
Bilateral cryptorchidism, Hydrocephalus, Hypospadias ORPHA:2409
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hypoplastic labia majora, Hydrocephalus, Vaginal atresia, Fused labia minora OMIM:207410
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Distal Triplication 15Q
Hydrocele testis, Hydrocephalus, Abnormal external genitalia, Dandy-Walker malformation ORPHA:314588
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:620156
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:615219
Trisomy 17P
Hypoplasia of penis, Hydrocephalus ORPHA:261290
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:603387
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus, Polycystic ovaries ORPHA:2969
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:613154
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Abnormal morphology of female internal genitalia ORPHA:1834
Cerebral Visual Impairment
Hydrocephalus, Attention deficit hyperactivity disorder ORPHA:447788
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Hydrocephalus, Aplasia of the vagina, Aplasia of the uterus, Ventriculomegaly ORPHA:457284
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Hypospadias, Hydrocephalus, Hypoplastic labia majora, Prominent scrotal raphe, Ven... OMIM:123790
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hydrocephalus, Hypoplasia of the uterus, Colpocephaly, Chordee, Micropeni... OMIM:309801
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Ventriculomegaly OMIM:614576
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Holoprosencephaly... ORPHA:2166
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Hydrocephalus, Vaginal atresia ORPHA:3301
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
Thoracoabdominal Syndrome
Anencephaly, Hydrocephalus, Hypospadias OMIM:313850
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Self-injurious behavior, Compu... OMIM:619512
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Griscelli Syndrome
Encephalocele, Hydrocephalus ORPHA:381
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Dandy-Walker malformation OMIM:614424
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Ventriculomegaly ORPHA:2169
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Desmosterolosis
Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male, Ventriculomegaly OMIM:602398
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:60040
Muenke Syndrome
Hydrocephalus ORPHA:53271
Pentalogy Of Cantrell
Encephalocele, Anencephaly, Hydrocephalus, Hypospadias ORPHA:1335
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Hypoplastic male external genitalia OMIM:608091
Vacterl With Hydrocephalus
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Abnormal fallopian tube morphology ORPHA:3412
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Hydrocephalus ORPHA:1865
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:612582
Lhermitte-Duclos Disease
Hydrocephalus, Ovarian neoplasm ORPHA:65285
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst... OMIM:619895
Multiple Sulfatase Deficiency
Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly OMIM:272200
Crouzon Syndrome
Hydrocephalus, Dysgerminoma OMIM:123500
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:613001
Fraser Syndrome 3
Hypoplasia of penis, Small scrotum, Hydrocephalus OMIM:617667
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Disinhibition, Holoprosencephaly ORPHA:2356
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:238769
Desmosterolosis
Ambiguous genitalia, Hydrocephalus, Ventriculomegaly ORPHA:35107
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly ORPHA:1860
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity disorder ORPHA:250989
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly, Occipital meningocele, Micropenis, Ventriculomegaly OMIM:616546
Fanconi Anemia, Complementation Group L
Micropenis, Hydrocephalus, Aplasia of the uterus, Attention deficit hyperactivity disorder OMIM:614083
Alexander Disease
Precocious puberty, Aqueductal stenosis, Hydrocephalus, Self-injurious behavior, Dysphagia ORPHA:58
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... OMIM:615287
Von Hippel-Lindau Syndrome
Papillary cystadenoma of the epididymis, Epididymal cyst OMIM:193300
Monosomy 9Q22.3
Hyperactivity, Hydrocephalus, Ovarian fibroma, Ventriculomegaly ORPHA:77301
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Cryptorchidism, Hydrocephalus, H... OMIM:236670
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Whipple Disease
Hydrocephalus, Polydipsia, Anorexia ORPHA:3452
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocele testis, Hydrocephalus, Ventriculomegaly OMIM:613603
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Dextrocardia
Abnormal reproductive system morphology, Hydrocephalus ORPHA:1666
Mend Syndrome
Hyperactivity, Aggressive behavior, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation ORPHA:401973
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Restrictive behavior, Hyperactivity, Violent behavior, Hypospadias, Impulsivity, A... OMIM:619475
H Syndrome
Hydrocephalus, Azoospermia, Hypogonadism, Micropenis, Decreased testicular size ORPHA:168569
Sturge-Weber Syndrome
Hydrocephalus, Attention deficit hyperactivity disorder, Dysphagia ORPHA:3205
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Uterine leiomyoma, Hydrocephalus OMIM:616482
Lateral Meningocele Syndrome
Cryptorchidism, Hydrocephalus, Meningocele OMIM:130720
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Hyperactivity, Small scrotum, Hypospadias, Septate vagina, Aggressive behavior, Pr... OMIM:270400
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad... ORPHA:95699
Tenorio Syndrome
Hydrocephalus, Ventriculomegaly OMIM:616260
Floating-Harbor Syndrome
Restlessness, Hypospadias, Impulsivity, Aggressive behavior, Precocious puberty, Cryptorchidism, ... ORPHA:2044
Cerebrooculonasal Syndrome
Encephalocele, Hydrocephalus, Hypoplastic male external genitalia, Dandy-Walker malformation, Ven... OMIM:605627
Opitz-Kaveggia Syndrome
Cryptorchidism, Hydrocephalus, Hypospadias, Attention deficit hyperactivity disorder OMIM:305450
Dubowitz Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity disorder, Abnormality... ORPHA:235
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Clitoral hypoplasia, Holoprosencephaly, Labial hypopl... OMIM:147791
Cousin Syndrome
Hydranencephaly, Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male OMIM:260660
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Meckel Syndrome
Encephalocele, True hermaphroditism, Cryptorchidism, Male pseudohermaphroditism, Hydrocephalus, A... ORPHA:564
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2378
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Chromosome 17P13.1 Deletion Syndrome
Hydrocele testis, Hydrocephalus, Spina bifida OMIM:613776
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Lateral ventricle dilatation OMIM:612863
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity di... OMIM:227646
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus ORPHA:2318
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens OMIM:137920
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus ORPHA:220497
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Spina bifida occulta, Hydrocephalus OMIM:613686
Apert Syndrome
Hydrocephalus, Ventriculomegaly, Ovarian neoplasm ORPHA:87
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Mucopolysaccharidosis Type 3
Hyperactivity, Aggressive behavior, Hypersexuality, Hydrocephalus, Disinhibition, Abnormal temper... ORPHA:581
Joubert Syndrome
Encephalocele, Hydrocephalus ORPHA:475
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Primary Ciliary Dyskinesia
Hydrocephalus, Ventriculomegaly ORPHA:244
Monosomy 18Q
Bilateral cryptorchidism, Micropenis, Hydrocephalus ORPHA:1600
Craniopharyngioma
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism, Polyphagia ORPHA:54595
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules, Dysphagia ORPHA:25
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus OMIM:224400
Mend Syndrome
Hyperactivity, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Marden-Walker Syndrome
Abnormal penis morphology, Hypospadias, Epispadias, Hydrocephalus, Attention deficit hyperactivit... ORPHA:2461
Coccidioidomycosis
Abnormal sperm morphology, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Abnormal... ORPHA:228123
Short-Rib Thoracic Dysplasia 12
Ambiguous genitalia, Hydrocephalus, Anencephaly, Holoprosencephaly OMIM:269860
Joubert Syndrome With Ocular Defect
Encephalocele, Hydrocephalus ORPHA:220493
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Hydrocephalus, Hypogonadism OMIM:101800
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Achondroplasia
Hydrocephalus ORPHA:15
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus ORPHA:974
Tetrasomy 5P
Hydrocephalus ORPHA:3309
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Normal pressure hydrocephalus, Abnormal repetitive mannerisms ORPHA:300570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Holoprosencephaly OMIM:253800
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, External genital hypoplasia,... OMIM:249000
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Dural Sinus Malformation
Myelopathy, Hydrocephalus ORPHA:97339
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:614643
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Epispadias, Cryptorchidism, ... ORPHA:2658
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus OMIM:616914
Otopalatodigital Syndrome Type 2
Encephalocele, Myelomeningocele, Hypospadias, Hydrocephalus ORPHA:90652
Exstrophy-Epispadias Complex
Bifid scrotum, Spina bifida, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal tra... ORPHA:322
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Testicular neoplasm, Spina bifida, Precocious puberty, Cryptorchidism, Hydrocephalus... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Testicular neoplasm, Spina bifida, Precocious puberty, Cryptorchidism, Hydrocephalus... ORPHA:363958
Cardiofaciocutaneous Syndrome 1
Hydrocephalus, Tongue thrusting OMIM:115150
Holoprosencephaly
Encephalocele, Hypoplasia of penis, Cryptorchidism, Hydrocephalus, Spinal dysraphism, Holoprosenc... ORPHA:2162
Apert Syndrome
Cryptorchidism, Hydrocephalus, Vaginal atresia, Ventriculomegaly OMIM:101200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Ventriculomegaly OMIM:613150
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus OMIM:620351
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Fanconi Anemia
Hypospadias, Spina bifida, Abnormal preputium morphology, Cryptorchidism, Hydrocephalus, Azoosper... ORPHA:84
Rabin-Pappas Syndrome
Hydrocephalus OMIM:620155
Kabuki Syndrome
Hypoplasia of penis, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Ventriculome... ORPHA:2322
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus OMIM:182212
Cardiofaciocutaneous Syndrome
Cryptorchidism, Hydrocephalus ORPHA:1340
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly ORPHA:395
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Tetraamelia Syndrome 1
Hydrocephalus, Hypoplasia of the fallopian tube, Vaginal atresia, Absent external genitalia OMIM:273395
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Mucopolysaccharidosis, Type Ii
Hydrocephalus OMIM:309900
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Ovarian cyst, Ventriculomegaly OMIM:618188
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Micropenis, Hypospadias, Hydrocephalus ORPHA:163979
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Noncommunicating... ORPHA:805
Thakker-Donnai Syndrome
Communicating hydrocephalus, Rectovaginal fistula ORPHA:1780
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Hypospadias, Epispadias, Male pseudohermaphroditism, Hydrocephalus, Ab... ORPHA:2556
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:91350
Basal Cell Nevus Syndrome 1
Hydrocephalus, Ovarian fibroma, Ovarian carcinoma, Spina bifida OMIM:109400
Floating-Harbor Syndrome
Hypospadias, Aggressive behavior, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Varicocele OMIM:136140
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus ORPHA:1454
Aymé-Gripp Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:1272
Hurler Syndrome
Hydrocephalus OMIM:607014
Mucopolysaccharidosis, Type Vii
Hydrocephalus OMIM:253220
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus OMIM:616007
Neurooculorenal Syndrome
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:620305
Marshall-Smith Syndrome
Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:602535
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:314585
Histidinemia
Hyperactivity ORPHA:2157
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Ventriculomegaly OMIM:259720
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Distal 22Q11.2 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity disorder ORPHA:261337
Trisomy 8P
Cryptorchidism, Micropenis, Hydrocephalus, Dandy-Walker malformation ORPHA:264450
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Ventriculomegaly ORPHA:228308
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Holoprosencephaly 9
Cryptorchidism, Micropenis, Hydrocephalus, Holoprosencephaly OMIM:610829
Fraser Syndrome 1
Encephalocele, Hypospadias, Cryptorchidism, Myelomeningocele, Hydrocephalus, Bicornuate uterus, M... OMIM:219000
22Q11.2 Deletion Syndrome
Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Meningocele, Occipital myelomeningocele... ORPHA:567
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Cryptorchidism, Ventriculomegaly ORPHA:2462
Cryptococcosis
Hydrocephalus, Prostatitis ORPHA:1546
Von Hippel-Lindau Disease
Papillary cystadenoma of the epididymis, Epididymal cyst ORPHA:892
Achondroplasia
Hydrocephalus OMIM:100800
Mohr Syndrome
Hydrocephalus OMIM:252100
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Micropenis, Hypoplasia of the ovary, Decreased testicular size OMIM:619321
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus ORPHA:157
Mucopolysaccharidosis Type 1
Hydrocephalus ORPHA:579
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Hajdu-Cheney Syndrome
Cryptorchidism, Hydrocephalus, Hypospadias OMIM:102500
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus, Bicornuate uterus OMIM:154400
Medulloblastoma
Hydrocephalus ORPHA:616
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal temper tan... ORPHA:580
Tetrasomy 9P
Hyperactivity, Cryptorchidism, Hydrocephalus, Oligozoospermia, Inappropriate behavior, Micropenis... ORPHA:3310
Orofaciodigital Syndrome I
Ovarian cyst, Myelomeningocele, Hydrocephalus OMIM:311200
Hurler Syndrome
Hydrocephalus ORPHA:93473
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Hypospadias, Aggressive behavior, Cryptorchidism, Mild fetal ventric... OMIM:619841
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Chromosome 1P36 Deletion Syndrome, Distal
Abnormal external genitalia, Hypospadias, Aggressive behavior, Cryptorchidism, Hydrocephalus, Lat... OMIM:607872
Lymphangioleiomyomatosis
Hydrocephalus, Abnormal morphology of female internal genitalia ORPHA:538
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus ORPHA:536467
Histiocytoid Cardiomyopathy
Hydrocephalus, Polycystic ovaries ORPHA:137675
Raine Syndrome
Hydrocephalus OMIM:259775
Neurofibromatosis Type 1
Precocious puberty, Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity disorder ORPHA:636
Stromme Syndrome
Hydrocephalus OMIM:243605
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus ORPHA:505248
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Azoospermia, Hydrocephalus, Abnormal temper tantrums, Ventriculomegaly ORPHA:2072
Hajdu-Cheney Syndrome
Hydrocephalus, Hypospadias ORPHA:955
Campomelic Dysplasia
Hypospadias, Spina bifida, Hydrocephalus, Spinal dysraphism, Sex reversal OMIM:114290
Wolf-Hirschhorn Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Aplasia of the uterus, Abnormal r... OMIM:194190
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Hydrocephalus OMIM:253200
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus, Dysphagia ORPHA:637
Osteopathia Striata With Cranial Sclerosis
Hydrocephalus, Spina bifida occulta OMIM:300373
Isotretinoin-Like Syndrome
Hydrocephalus ORPHA:2306
Mycophenolate Mofetil Embryopathy
Hydrocephalus ORPHA:268249
Cockayne Syndrome A
Cryptorchidism, Normal pressure hydrocephalus, Hypogonadism, Micropenis, Ventriculomegaly OMIM:216400
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus ORPHA:1571
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus ORPHA:79282
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia ORPHA:168577
Fontaine Progeroid Syndrome
Small scrotum, Cryptorchidism, Hydrocephalus, Hypoplastic labia majora, Micropenis OMIM:612289
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus OMIM:616084
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Pseudoaminopterin Syndrome
Cryptorchidism, Hydrocephalus ORPHA:221120
Microphthalmia With Limb Anomalies
Cryptorchidism, Hydrocephalus ORPHA:1106
Semilobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Attention deficit hyperactivity disorder, Dysphagia ORPHA:220386
Alobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Attention deficit hyperactivity disorder, Dysphagia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Hydrocephalus, Attention deficit hyperactivity disorder, Dysphagia ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Attention deficit hyperactivity disorder, Dysphagia ORPHA:93924
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Micropenis, Ventriculomegaly ORPHA:457359
Split Cord Malformation
Hypospadias, Cervical spina bifida, Myelomeningocele, Meningocele, Lipomyelomeningocele, Hydrocep... ORPHA:573278
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Hydrocephalus, Hypogonadism ORPHA:3042
Yunis-Varon Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Hypoplastic labia majora, Micropenis, Clitoral hypert... ORPHA:3472
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta ORPHA:2369
Meningioma
Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:2495
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Long penis, Dysphagia, Dandy-Walker malformation OMIM:264090
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Hydrocephalus, R... OMIM:107480
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation, Colpocephaly, Micropenis OMIM:210710
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Osteogenesis Imperfecta
Hydrocephalus, Noncommunicating hydrocephalus, Ventriculomegaly, Dysphagia ORPHA:666
Kabuki Syndrome 1
Premature thelarche, Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation, Anoperineal fis... OMIM:147920
Cockayne Syndrome B
Cryptorchidism, Micropenis, Normal pressure hydrocephalus OMIM:133540
Gaucher Disease
Hydrocephalus, Ventriculomegaly, Dysphagia ORPHA:355
Peters Plus Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Hypoplasia of the uterus, Clitoral hypoplasia, Spina ... ORPHA:709
Heterotaxy, Visceral, 1, X-Linked
Aqueductal stenosis, Myelomeningocele, Hydrocephalus OMIM:306955
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus OMIM:261740
Hydrolethalus Syndrome 1
Hypospadias, Bifid uterus, Anencephaly, Severe hydrocephalus, Abnormal vagina morphology, Dandy-W... OMIM:236680
Focal Dermal Hypoplasia
Cryptorchidism, Hydrocephalus, Myelomeningocele, Clitoral hypoplasia, Labial hypoplasia, Spina bi... OMIM:305600
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Ventriculomegaly OMIM:617011
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, Hydrocephalus OMIM:208150
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus ORPHA:309282
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Cryptorchidism, Hydrocephalus, Hypoplasia of the uterus, H... OMIM:261540
Baller-Gerold Syndrome
Hydrocephalus, Spina bifida occulta, Rectovaginal fistula, Perineal fistula OMIM:218600
Coffin-Siris Syndrome 12
Cryptorchidism, Abnormal repetitive mannerisms, Hypospadias, Noncommunicating hydrocephalus OMIM:619325
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus, Attention deficit hyperactivity disorder ORPHA:363700
Costello Syndrome
Hydrocephalus, Ventriculomegaly OMIM:218040
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Cryptorchidism, Hydrocephalus, Long penis, Frontal encephaloc... OMIM:268300
Wiedemann-Rautenstrauch Syndrome
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Hydrocephalus, Wide penis ORPHA:3455
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly OMIM:253280
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus ORPHA:667
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Hydrocephalus, Hypospadias, Spina bifida OMIM:304120
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Simpson-Golabi-Behmel Syndrome, Type 1
Cryptorchidism, Hydrocephalus, Hypospadias OMIM:312870
Loeys-Dietz Syndrome 2
Hydrocephalus OMIM:610168
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Hydrocephalus, Lateral ventricle dilatation OMIM:619534
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Egfl8

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Egfl8.

No publications found that use IMPC mice or data for Egfl8.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Egfl8tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Egfl8tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Egfl8tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter