Gene Summary

EGF-like domain 8

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
enlarged epididymis Egfl8tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal epididymis morphology Egfl8tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal brain morphology Egfl8tm1.1(KOMP)Vlcg HOM Early adult 0.00
hydrocephaly Egfl8tm1.1(KOMP)Vlcg HOM Early adult 0.00
hyperactivity Egfl8tm1.1(KOMP)Vlcg HOM Early adult 4.34×10-05

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
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 50% (1 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 50% (1 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)
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 Not available
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 50% (1 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 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)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 50% (1 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 50% (1 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%
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
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%
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.

Adult LacZ

LacZ Images Section

12 Images


XRay Images Skull Dorso Ventral Orientation

9 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Forepaw

9 Images


XRay Images Skull Lateral Orientation

9 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Hind Leg and Hip

9 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
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus OMIM:209970
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus 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
Ventriculomegaly, Attention deficit hyperactivity disorder, Motor stereotypy, Hydrocephalus OMIM:618709
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Attention deficit hyperactivity disorder, Cryptorchidism, Frontal encephalocele ORPHA:261102
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
1Q21.1 Microduplication Syndrome
Hydrocephalus, Attention deficit hyperactivity disorder, Hypospadias, Cryptorchidism ORPHA:250994
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:619470
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus, Hydrocephalus OMIM:258320
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity 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
Morm Syndrome
Micropenis, Aggressive behavior, Hyperactivity ORPHA:75858
Microcephaly, Seizures, And Developmental Delay
Ventriculomegaly, Hyperactivity OMIM:613402
8p23.1 deletion syndrome
Hyperactivity, Cryptorchidism DECIPHER:39
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus ORPHA:141333
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Ventriculomegaly, Aggressive behavior, Hyperactivity, Compulsive behaviors OMIM:301107
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus OMIM:300886
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Attention deficit hyperactivity disorder, Hyperactivity,... ORPHA:8
Radial Aplasia, X-Linked
Hydrocephalus, Penile hypospadias OMIM:312190
Diencephalic Syndrome
Long penis, Hydrocephalus ORPHA:1672
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Fried Syndrome
Aggressive behavior, Hydrocephalus ORPHA:85335
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Hydrocephalus, Cryptorchidism OMIM:601794
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Self-mutilation OMIM:300884
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Hydrocephalus OMIM:148800
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Polyphagia, Aggressive behavior, Self-mutilation OMIM:616521
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Intellectual Developmental Disorder, X-Linked 30
Aggressive behavior, Hydrocephalus, Hyperactivity, Restlessness, Agitation OMIM:300558
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly, Hypoplastic female external genitalia, Cryptorchidism OMIM:618577
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism ORPHA:2183
Temple Syndrome
Precocious puberty, Polyphagia, Cryptorchidism, Hydrocephalus ORPHA:254516
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty, Aggressive behavior, Ventriculomegaly, Hyperactivity ORPHA:457260
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Abnormal temper tantrums, Ventriculomegaly, Dilated third ventricle, Hypogonadism, Obsessive-comp... ORPHA:500055
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus OMIM:619301
Fragile X Syndrome
Recurrent hand flapping, Macroorchidism, postpubertal, Hyperactivity, Self-biting, Congenital mac... OMIM:300624
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity, Impulsivity OMIM:300143
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Ventriculomegaly, Attention deficit hyperactivity disorder, Cryptorchidism OMIM:609757
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Nasu-Hakola Disease
Ventriculomegaly, Hydrocephalus, Disinhibition ORPHA:2770
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myelomeningocele, Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity ... OMIM:620141
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Hydrocephalus ORPHA:251915
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Cryptorchidism, Polyphagia, Motor stereotypy, Hyperactivity, Hypoplasia ... ORPHA:228402
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventriculomegaly, Hypospadias, Cryptorchidism OMIM:218350
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Macroorchidism, Hyperactivity ORPHA:85327
Alexander Disease
Increased CSF protein concentration, Hydrocephalus OMIM:203450
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Aggressive behavior, Hyperactivity, Anorexia, Macroorchidism ORPHA:3077
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus OMIM:614120
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Ambiguous genitalia, Cryptorchidism ORPHA:1237
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Micropenis, Hydrocephalus, Hypospadias, Cryptorchidism ORPHA:171839
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Ventriculomegaly, Hydrocephalus OMIM:610333
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Alexander Disease Type I
Dysphagia, Hydrocephalus ORPHA:363717
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Increased CSF lactate, Increased CSF lysine concentration, Colpocephaly, Hydroc... OMIM:616034
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Hydrocephalus OMIM:304100
Optic Pathway Glioma
Precocious puberty, Hydrocephalus ORPHA:2086
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus ORPHA:2182
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus, Cryptorchidism ORPHA:2701
Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Meningocele, Hypoplasia of penis, Holoprosenc... ORPHA:3376
Temple Syndrome
Precocious puberty, Decreased testicular size, Cryptorchidism, Hydrocephalus OMIM:616222
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Small scrotum, Ventriculomegaly, Microphallus, Cryptorchidism, Self-mutilation, Hyperactivity, Mi... OMIM:300486
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hypospadias ORPHA:77298
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Restless legs, Hydrocephalus ORPHA:99947
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Ventriculomegaly, Hypospadias, Cryptorchidism OMIM:175700
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Dysphagia, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Pallister-Hall-Like Syndrome
Micropenis, Occipital encephalocele, Hydrocephalus OMIM:241800
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Congenital Toxoplasmosis
Ventriculomegaly, Hydrocephalus ORPHA:858
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus OMIM:248000
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Spina bifida, Hydrocephalus, Dysphagia OMIM:207950
Diabetic Embryopathy
Spinal dysraphism, Abnormal morphology of female internal genitalia, Cryptorchidism, Hydrocephalu... ORPHA:1926
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus OMIM:602501
Bresek Syndrome
Hydrocephalus, Decreased testicular size, Cryptorchidism ORPHA:85284
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Genitopalatocardiac Syndrome
Cryptorchidism, Male pseudohermaphroditism, Hydrocephalus, Gonadal dysgenesis, male, Hypospadias ORPHA:2075
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
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
Ventriculomegaly, Hydrocephalus ORPHA:272
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele ORPHA:2119
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Pettigrew Syndrome
Self-injurious behavior, Ventriculomegaly, Stereotypical hand wringing, Aggressive behavior, Hydr... OMIM:304340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613153
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Hydrocephalus, Abnormal fallopian tube morphology, Cryptorchidism, Anencephaly ORPHA:2189
Thanatophoric Dysplasia Type 2
Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele ORPHA:93274
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus OMIM:613155
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Cryptorchidism, Dandy-Walker malformation OMIM:310400
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Absent Radius-Anogenital Anomalies Syndrome
Rectovaginal fistula, Hydrocephalus, Perineal fistula ORPHA:3016
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Ventriculomegaly, Hyperactivity, Self-biting OMIM:618314
Intellectual Developmental Disorder, Autosomal Dominant 65
Compulsive behaviors, Aggressive behavior, Attention deficit hyperactivity disorder, Noncommunica... OMIM:619320
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Self-injurious behavior, Ventriculomegaly, Aggressive behavior, Colpocephaly, Hydrocephalus OMIM:619833
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Ritscher-Schinzel Syndrome 1
Hypospadias, Hydrocephalus, Dandy-Walker malformation OMIM:220210
Trisomy 1Q
Small scrotum, Ventriculomegaly, Cryptorchidism, Ambiguous genitalia, Hydrocephalus ORPHA:261344
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus, Hypospadias, Cryptorchidism OMIM:601499
Krabbe Disease
Increased CSF protein concentration, Hydrocephalus OMIM:245200
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus, Hydrocephalus ORPHA:2736
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Mirage Syndrome
Microphallus, Decreased testicular size, Cryptorchidism, Hydrocephalus, Shawl scrotum, Hypospadia... OMIM:617053
Pontocerebellar Hypoplasia, Type 7
Ventriculomegaly, Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Micropenis OMIM:614969
Oculocerebrocutaneous Syndrome
Hydrocephalus, Ventriculomegaly, Cryptorchidism, Dandy-Walker malformation ORPHA:1647
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Encephalocele, Hydrocephalus, Meningocele, Holoprosencephaly, Anencephaly ORPHA:1908
Coach Syndrome 2
Hydrocephalus OMIM:619111
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus OMIM:276950
Emanuel Syndrome
Ventriculomegaly, Hypogonadism, Cryptorchidism, Hydrocephalus, Micropenis, Dysphagia, Dandy-Walke... ORPHA:96170
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Cryptorchidism, Dandy-Walker malformation OMIM:612938
Functioning Gonadotropic Adenoma
Ovarian cyst, Enlarged polycystic ovaries, Macroorchidism, postpubertal, Hydrocephalus, Oligozoos... ORPHA:91348
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:611134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Hypogonadism, Hydrocephalus, Micropenis, Hypergonadotropic hypogonadism OMIM:300514
Emanuel Syndrome
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Micropenis, Dandy-Walker malformation OMIM:609029
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Nephronophthisis 18
Hydrocephalus OMIM:615862
Thanatophoric Dysplasia
Ventriculomegaly, Hydrocephalus ORPHA:2655
Fg Syndrome Type 1
Ventriculomegaly, Cryptorchidism, Attention deficit hyperactivity disorder, Hydrocephalus, Compul... ORPHA:93932
Abnormality of the ovary, Abnormal fallopian tube morphology, Hydrocephalus, Cervicitis, Dandy-Wa... ORPHA:722
Alkuraya-Kucinskas Syndrome
Small scrotum, Ventriculomegaly, Hydrocephalus, Micropenis, Dandy-Walker malformation OMIM:617822
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Houge-Janssens Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:616362
Small scrotum, Ventriculomegaly, Microphallus, Cryptorchidism, Ambiguous genitalia, Hydrocephalus... OMIM:612651
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus ORPHA:370959
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:225790
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Abnormality of the male genitalia OMIM:614886
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Houge-Janssens Syndrome 1
Ventriculomegaly, Hydrocephalus OMIM:616355
Walker-Warburg Syndrome
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Hypoplasia of penis, Dandy-Walker malformation ORPHA:899
Ventriculomegaly, Hydrocephalus, Abnormality of the uterus ORPHA:59315
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:615630
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Hyperactivity, Dandy-Walker malformation OMIM:617281
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hydrocephalus OMIM:109120
Meckel Syndrome, Type 6
Hydrocephalus, Occipital encephalocele, Anencephaly, Abnormal internal genitalia OMIM:612284
3C Syndrome
Ventriculomegaly, Hydrocephalus, Hypoplasia of penis, Hypospadias, Dandy-Walker malformation ORPHA:7
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Micropenis, Hydrocephalus, Cryptorchidism OMIM:619951
Hydrocephalus ORPHA:252054
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hydrocephalus, Ventriculomegaly, Hypoplasia of penis, Cryptorchidism ORPHA:1812
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Attention deficit hyperactivity disorder, Hydrocephalus, Dandy-Walker malformation ORPHA:459061
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Self-injurious behavior, Dilated third ventricle, Head-banging, Lateral ventricle dilatation, Fre... OMIM:619575
Gracile Bone Dysplasia
Micropenis, Hydrocephalus OMIM:602361
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Bifid scrotum, Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Micropenis, ... OMIM:257300
Acquired Aneurysmal Subarachnoid Hemorrhage
Increased CSF lactate, Addictive alcohol use, Hydrocephalus, Hyperglycorrhachia ORPHA:90065
Pseudotrisomy 13 Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Micropenis, Holoprosencephaly, Bicornuate uterus OMIM:264480
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Oeis Complex
Myelomeningocele, Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitali... OMIM:258040
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Crouzon Syndrome
Hydrocephalus ORPHA:207
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Hypospadias, Ventriculomegaly, Aplasia/hypoplasia of the uterus, Cryptor... ORPHA:96121
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus, Bifid scrotum, Cryptorchidism, Prominent scrotal raphe ORPHA:1555
Lowry-Maclean Syndrome
Hypospadias, Hydrocephalus, Bilateral cryptorchidism ORPHA:2409
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus OMIM:614195
Pelvis-Shoulder Dysplasia
Hydranencephaly, Ambiguous genitalia, Hydrocephalus, Spina bifida ORPHA:2839
Hydrocephalus ORPHA:137817
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Vaginal atresia, Hypoplastic labia majora, Fused labia minora, Hydrocephalus OMIM:207410
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Inappropriate laughter, Hydrocephalus, Dandy-Walker malformation OMIM:618476
Tetraamelia-Multiple Malformations Syndrome
Vaginal atresia, Hydrocephalus, Cryptorchidism ORPHA:3301
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Colpocephaly, Communicating hydrocephalus, Hydrocephalus OMIM:615219
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Distal Triplication 15Q
Hydrocele testis, Dandy-Walker malformation, Hydrocephalus, Abnormal external genitalia ORPHA:314588
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Colpocephaly, Hydrocephalus OMIM:620156
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Trisomy 17P
Hypoplasia of penis, Hydrocephalus ORPHA:261290
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Self-injurious behavior, Frequent temper tantrums, Cryptorchidism, Hyperactivity, Hydrocephalus, ... OMIM:619512
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus, Polycystic ovaries ORPHA:2969
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Encephalocele, Cryptorchidism ORPHA:1865
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Hypoplasia of penis, Holoprose... ORPHA:2166
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventriculomegaly, Hydrocephalus OMIM:603387
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Abnormal morphology of female internal genitalia ORPHA:1834
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Cryptorchidism, Dandy-Walker malformation OMIM:613001
Cerebral Visual Impairment
Attention deficit hyperactivity disorder, Hydrocephalus ORPHA:447788
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Ventriculomegaly, Aplasia of the vagina, Aplasia of the uterus, Hydrocephalus, Hyperactivity ORPHA:457284
Beare-Stevenson Cutis Gyrata Syndrome
Ventriculomegaly, Bifid scrotum, Prominent scrotal raphe, Hypoplastic labia majora, Hydrocephalus... OMIM:123790
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Ovotestis, Chordee, Colpocephaly, Hydrocephalus, Micropenis, Hypoplasia of ... OMIM:309801
Vacterl With Hydrocephalus
Cryptorchidism, Abnormal fallopian tube morphology, Hydrocephalus, Spina bifida, Aqueductal stenosis ORPHA:3412
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal... OMIM:613154
Congenital Disorder Of Glycosylation, Type Iil
Ventriculomegaly, Hydrocephalus OMIM:614576
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Hydrocephalus ORPHA:2169
Thoracoabdominal Syndrome
Hypospadias, Hydrocephalus, Anencephaly OMIM:313850
1Q21.1 Microdeletion Syndrome
Hydrocephalus, Attention deficit hyperactivity disorder, Cryptorchidism ORPHA:250989
Ambiguous genitalia, male, Ambiguous genitalia, female, Ventriculomegaly, Hydrocephalus OMIM:602398
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Griscelli Syndrome
Hydrocephalus, Encephalocele ORPHA:381
Joubert Syndrome 2
Hydrocephalus, Enlarged fossa interpeduncularis, Hypoplastic male external genitalia, Encephalocele OMIM:608091
Joubert Syndrome 14
Hydrocephalus, Meningocele, Encephalocele, Dandy-Walker malformation OMIM:614424
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:60040
Pentalogy Of Cantrell
Hydrocephalus, Hypospadias, Encephalocele, Anencephaly ORPHA:1335
Multiple Sulfatase Deficiency
Increased CSF protein concentration, Ventriculomegaly, Hydrocephalus OMIM:272200
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:612582
Muenke Syndrome
Hydrocephalus ORPHA:53271
Plasminogen Deficiency, Type I
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:217090
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Ventriculomegaly, Hydrocele testis, Hydrocephalus OMIM:613603
Crouzon Syndrome
Hydrocephalus, Dysgerminoma OMIM:123500
Mend Syndrome
Cryptorchidism, Aggressive behavior, Hydrocephalus, Hyperactivity, Dandy-Walker malformation ORPHA:401973
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Holoprosencephaly... OMIM:619895
Laurin-Sandrow Syndrome
Hydrocephalus, Cryptorchidism ORPHA:2378
Fraser Syndrome 3
Small scrotum, Hypoplasia of penis, Hydrocephalus OMIM:617667
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Choroid plexus cyst, Hydrocephalus OMIM:617866
Lateral Meningocele Syndrome
Hydrocephalus, Meningocele, Cryptorchidism OMIM:130720
Lhermitte-Duclos Disease
Ovarian neoplasm, Hydrocephalus ORPHA:65285
Ventriculomegaly, Ambiguous genitalia, Hydrocephalus ORPHA:35107
1Q44 Microdeletion Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:238769
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Hydrocephalus OMIM:219730
Thanatophoric Dysplasia Type 1
Ventriculomegaly, Hydrocephalus ORPHA:1860
Alexander Disease
Self-injurious behavior, Precocious puberty, Hydrocephalus, Aqueductal stenosis, Dysphagia ORPHA:58
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Ventriculomegaly, Occipital encephalocele, Cryptorchidism, Hydrocephalus, Hypoplastic male extern... OMIM:236670
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Ventriculomegaly, Occipital meningocele, Hydrocephalus, Micropenis, Anencephaly OMIM:616546
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus, Attention deficit hyperactivity disorder, Hydrocephalus OMIM:614083
Arachnoid Cyst
Enlarged fossa interpeduncularis, Encephalocele, Disinhibition, Hydrocephalus, Holoprosencephaly ORPHA:2356
Monosomy 9Q22.3
Hydrocephalus, Ventriculomegaly, Ovarian fibroma, Hyperactivity ORPHA:77301
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Whipple Disease
Polydipsia, Hydrocephalus, Anorexia ORPHA:3452
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
H Syndrome
Hypogonadism, Decreased testicular size, Azoospermia, Hydrocephalus, Micropenis ORPHA:168569
Von Hippel-Lindau Syndrome
Epididymal cyst, Papillary cystadenoma of the epididymis OMIM:193300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Ventriculomegaly, Occipital encephalocele, Decreased testicular size, Hydrocephalus, Micropenis, ... OMIM:615287
Chromosome 17P13.1 Deletion Syndrome
Hydrocele testis, Hydrocephalus, Spina bifida OMIM:613776
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Jacobsen Syndrome
Cryptorchidism, Labial hypoplasia, Hydrocephalus, Holoprosencephaly, Hypospadias, Clitoral hypopl... OMIM:147791
Opitz-Kaveggia Syndrome
Hydrocephalus, Attention deficit hyperactivity disorder, Hypospadias, Cryptorchidism OMIM:305450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal male external genitalia morphology, Abnormal ovarian morphology, Increased size of the c... ORPHA:95699
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Restrictive behavior, Hypospadias, Ventriculomegaly, Violent behavior, Bifid scrotum, Bruxism, Ag... OMIM:619475
Dubowitz Syndrome
Abnormal female external genitalia morphology, Cryptorchidism, Attention deficit hyperactivity di... ORPHA:235
Abnormal reproductive system morphology, Hydrocephalus ORPHA:1666
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Attention deficit hyperactivity disorder, Hydrocephalus, Micropenis, Hypergonadot... OMIM:227646
Smith-Lemli-Opitz Syndrome
Precocious puberty, Small scrotum, Bifid scrotum, Septate vagina, Cryptorchidism, Self-mutilation... OMIM:270400
Meckel Syndrome
Encephalocele, Cryptorchidism, True hermaphroditism, Male pseudohermaphroditism, Ambiguous genita... ORPHA:564
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus, Uterine leiomyoma OMIM:616482
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation, Hyperactivity, Cryptorchidism OMIM:300960
Floating-Harbor Syndrome
Precocious puberty, Abnormal temper tantrums, Varicocele, Cryptorchidism, Aggressive behavior, At... ORPHA:2044
Sturge-Weber Syndrome
Attention deficit hyperactivity disorder, Dysphagia, Hydrocephalus ORPHA:3205
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Tenorio Syndrome
Ventriculomegaly, Hydrocephalus OMIM:616260
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Spina bifida occulta, Hydrocephalus OMIM:613686
Cerebrooculonasal Syndrome
Ventriculomegaly, Encephalocele, Hydrocephalus, Hypoplastic male external genitalia, Dandy-Walker... OMIM:605627
Mucopolysaccharidosis Type 3
Abnormal temper tantrums, Ventriculomegaly, Disinhibition, Aggressive behavior, Hyperactivity, Hy... ORPHA:581
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Cousin Syndrome
Ambiguous genitalia, male, Ambiguous genitalia, female, Hydranencephaly, Hydrocephalus OMIM:260660
Peho Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:2836
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Acrodysostosis 1 With Or Without Hormone Resistance
Hypogonadism, Hydrocephalus, Cryptorchidism OMIM:101800
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Monosomy 18Q
Micropenis, Hydrocephalus, Bilateral cryptorchidism ORPHA:1600
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Lateral ventricle dilatation OMIM:612863
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Encephalocele ORPHA:2318
Apert Syndrome
Ventriculomegaly, Ovarian neoplasm, Hydrocephalus ORPHA:87
Joubert Syndrome With Renal Defect
Hydrocephalus, Encephalocele ORPHA:220497
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Ventriculomegaly, Hydrocephalus OMIM:616538
Glutaryl-Coa Dehydrogenase Deficiency
Ventriculomegaly, Communicating hydrocephalus, Subependymal nodules, Dysphagia ORPHA:25
Joubert Syndrome
Hydrocephalus, Encephalocele ORPHA:475
Primary Ciliary Dyskinesia
Ventriculomegaly, Hydrocephalus ORPHA:244
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Encephalocele OMIM:224400
Renal Cysts And Diabetes Syndrome
Atretic vas deferens, Epididymal cyst, Hypoplasia of the uterus, Bicornuate uterus, Hypospadias OMIM:137920
Increased CSF protein concentration, Abnormality of the male genitalia, Hypoglycorrhachia, Abnorm... ORPHA:228123
Hypogonadism, Polyphagia, Hypogonadotropic hypogonadism, Hydrocephalus ORPHA:54595
Gorlin Syndrome
Hydrocephalus, Hypogonadotropic hypogonadism, Ovarian fibroma, Cryptorchidism ORPHA:377
Marden-Walker Syndrome
Abnormal penis morphology, Attention deficit hyperactivity disorder, Hydrocephalus, Hypospadias, ... ORPHA:2461
Spinal dysraphism, Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, Holoprosencephal... ORPHA:63259
Joubert Syndrome With Ocular Defect
Hydrocephalus, Encephalocele ORPHA:220493
Short-Rib Thoracic Dysplasia 12
Holoprosencephaly, Ambiguous genitalia, Anencephaly, Hydrocephalus OMIM:269860
Hydrocephalus ORPHA:15
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Holoprosencephaly, Encephalocele OMIM:253800
Tetrasomy 5P
Hydrocephalus ORPHA:3309
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Ventriculomegaly, Inappropriate laughter, Cryptorchidism, Overfriendliness, A... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Ventriculomegaly, Inappropriate laughter, Cryptorchidism, Overfriendliness, A... ORPHA:363958
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Motor stereotypy, Lateral ventricle dilatation ORPHA:300570
Exstrophy-Epispadias Complex
Penoscrotal transposition, Bifid scrotum, Cystocele, Cryptorchidism, Bifid penis, Hydrocephalus, ... ORPHA:322
Adams-Oliver Syndrome
Hydrocephalus, Encephalocele ORPHA:974
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypogonadism, External genital hypoplasia, Cryptorchidism, Hydrocephal... ORPHA:2658
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Cryptorchidism, Colpoceph... OMIM:620371
Dural Sinus Malformation
Myelopathy, Hydrocephalus ORPHA:97339
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Apert Syndrome
Vaginal atresia, Hydrocephalus, Ventriculomegaly, Cryptorchidism OMIM:101200
Fanconi Anemia
Ventriculomegaly, Abnormality of the uterus, Hypogonadism, Azoospermia, Cryptorchidism, Spina bif... ORPHA:84
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus, Cryptorchidism OMIM:182212
Meckel Syndrome, Type 1
Ventriculomegaly, Occipital encephalocele, Abnormality of the uterus, Ambiguous genitalia, female... OMIM:249000
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Ventriculomegaly, Encephalocele, Dandy-Walker malformation OMIM:614643
Spinal dysraphism, Encephalocele, Cryptorchidism, Hydrocephalus, Hypoplasia of penis, Holoprosenc... ORPHA:2162
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus OMIM:616914
Cardiofaciocutaneous Syndrome
Hydrocephalus, Cryptorchidism ORPHA:1340
Otopalatodigital Syndrome Type 2
Myelomeningocele, Hydrocephalus, Hypospadias, Encephalocele ORPHA:90652
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus OMIM:620351
Kabuki Syndrome
Precocious puberty, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Hypoplasia of penis, Hypospa... ORPHA:2322
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Mucopolysaccharidosis, Type Ii
Hydrocephalus OMIM:309900
Cardiofaciocutaneous Syndrome 1
Tongue thrusting, Hydrocephalus OMIM:115150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Ventriculomegaly, Encephalocele OMIM:613150
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Clitoral hypertrophy, Male pseudohermaphroditism, Ambiguous genitalia,... ORPHA:2556
Rabin-Pappas Syndrome
Hydrocephalus OMIM:620155
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Micropenis, Hydrocephalus, Hypospadias, Cryptorchidism ORPHA:163979
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Neurooculorenal Syndrome
Hydrocephalus, Aqueductal stenosis, Ventriculomegaly, Cryptorchidism OMIM:620305
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Distal 22Q11.2 Microduplication Syndrome
Hydrocephalus, Attention deficit hyperactivity disorder, Cryptorchidism ORPHA:261337
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Hyperparathyroidism, Transient Neonatal
Ventriculomegaly, Communicating hydrocephalus, Ovarian cyst OMIM:618188
Aymé-Gripp Syndrome
Hydrocephalus, Ventriculomegaly, Cryptorchidism ORPHA:1272
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ventriculomegaly, Hydrocephalus ORPHA:395
Marshall-Smith Syndrome
Hydrocephalus, Ventriculomegaly, Cryptorchidism, Bilateral cryptorchidism OMIM:602535
Tuberous Sclerosis Complex
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Repetitiv... ORPHA:805
Basal Cell Nevus Syndrome 1
Ovarian fibroma, Spina bifida, Hydrocephalus, Ovarian carcinoma OMIM:109400
Floating-Harbor Syndrome
Varicocele, Glandular hypospadias, Cryptorchidism, Aggressive behavior, Epididymal cyst, Hypospadias OMIM:136140
Thakker-Donnai Syndrome
Communicating hydrocephalus, Rectovaginal fistula ORPHA:1780
Pituitary Deficiency Due To Rathke Cleft Cysts
Hypogonadotropic hypogonadism, Hydrocephalus ORPHA:91350
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus ORPHA:1454
Shprintzen-Goldberg Syndrome
Ventriculomegaly, Communicating hydrocephalus, Cryptorchidism ORPHA:2462
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Tetraamelia Syndrome 1
Vaginal atresia, Absent external genitalia, Hydrocephalus, Hypoplasia of the fallopian tube OMIM:273395
Mucopolysaccharidosis, Type Vii
Hydrocephalus OMIM:253220
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Hurler Syndrome
Hydrocephalus OMIM:607014
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus OMIM:616007
Trisomy 8P
Micropenis, Hydrocephalus, Cryptorchidism, Dandy-Walker malformation ORPHA:264450
Holoprosencephaly 9
Alobar holoprosencephaly, Cryptorchidism, Hydrocephalus, Micropenis, Holoprosencephaly, Occipital... OMIM:610829
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:314585
Osteopetrosis, Autosomal Recessive 5
Ventriculomegaly, Hydrocephalus OMIM:259720
Hyperactivity ORPHA:2157
Fraser Syndrome 1
Clitoral hypertrophy, Myelomeningocele, Cryptorchidism, Encephalocele, Micropenis, Hydrocephalus,... OMIM:219000
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... OMIM:610828
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Micropenis, Decreased testicular size, Hypoplasia of the ovary, Hydrocephalus OMIM:619321
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Ventriculomegaly, Hydrocephalus ORPHA:228308
Prostatitis, Hydrocephalus ORPHA:1546
Hajdu-Cheney Syndrome
Hydrocephalus, Hypospadias, Cryptorchidism OMIM:102500
Mucopolysaccharidosis Type 1
Hydrocephalus ORPHA:579
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Hydrocephalus OMIM:100800
Congenital Syphilis
Hydrocephalus, CSF pleocytosis ORPHA:499009
Von Hippel-Lindau Disease
Epididymal cyst, Papillary cystadenoma of the epididymis ORPHA:892
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
22Q11.2 Deletion Syndrome
Abnormality of the uterus, Cryptorchidism, Attention deficit hyperactivity disorder, Spina bifida... ORPHA:567
Mucopolysaccharidosis Type 2
Abnormal temper tantrums, Oppositional defiant disorder, Aggressive behavior, Hyperactivity, Comm... ORPHA:580
Orofaciodigital Syndrome Ii
Hydrocephalus OMIM:252100
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
Tetrasomy 9P
Inappropriate behavior, Cryptorchidism, Hyperactivity, Oligozoospermia, Hydrocephalus, Micropenis... ORPHA:3310
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus ORPHA:157
Orofaciodigital Syndrome I
Myelomeningocele, Hydrocephalus, Ovarian cyst OMIM:311200
Hydrocephalus ORPHA:616
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Bicornuate uterus, Hydrocephalus OMIM:154400
Chilton-Okur-Chung Neurodevelopmental Syndrome
Self-injurious behavior, Cryptorchidism, Aggressive behavior, Attention deficit hyperactivity dis... OMIM:619841
Hurler Syndrome
Hydrocephalus ORPHA:93473
Hydrocephalus, Abnormal morphology of female internal genitalia