Gene Summary

Name:
leucine rich repeat and coiled-coil domain containing 1
Synonyms:
1200008A14Rik,  4932441F23Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
hydrocephaly Lrrcc1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
male infertility Lrrcc1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal brain morphology Lrrcc1tm1b(EUCOMM)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (1 of 2)
Aorta  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 50% (1 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Diaphragm  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 50% (1 of 2)
Olfactory lobe  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Parathyroid gland  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Trigeminal V nerve  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 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 50% (1 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Duodenum 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
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 100% (2 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
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 50% (1 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
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)
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 0.69% (4 of 577)
aorta 0.17% (1 of 582)
blood 0.0%
bone marrow 0.0%
brain 0.86% (5 of 583)
brainstem 0.35% (2 of 578)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 581)
cecum 5.71% (21 of 368)
cerebellum 0.52% (3 of 582)
cerebral cortex 0.34% (2 of 581)
chest bone Unavailable
colon 16.06% (22 of 137)
diaphragm 0.0%
duodenum 3.73% (5 of 134)
epididymis 13.89% (20 of 144)
esophagus 1.73% (7 of 404)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.34% (2 of 581)
hindlimb 0.0%
hippocampus 0.34% (2 of 585)
hypothalamus 0.34% (2 of 583)
ileum 13.77% (19 of 138)
jejunum 8.89% (12 of 135)
kidney 4.45% (26 of 584)
large intestine 5.34% (31 of 581)
liver 0.0%
lower urinary tract 0.17% (1 of 579)
lung 0.35% (2 of 573)
lymph node 0.18% (1 of 570)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.35% (2 of 574)
ovary 0.17% (1 of 577)
oviduct 0.0%
pancreas 0.86% (5 of 581)
parathyroid gland 0.18% (1 of 561)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.35% (2 of 579)
peyers patch 0.0%
pituitary gland 0.17% (1 of 572)
prostate gland 2.08% (12 of 577)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 580)
small intestine 5.51% (32 of 581)
spinal cord 0.35% (2 of 578)
spleen 0.52% (3 of 580)
stomach 3.79% (22 of 580)
stomach pyloric region 0.0%
striatum 0.52% (3 of 578)
sublingual gland 0.0%
submandibular gland 1.43% (2 of 140)
testis 0.86% (5 of 581)
thymus 0.17% (1 of 579)
thyroid gland 2.94% (17 of 579)
tongue 3.65% (5 of 137)
trachea 0.52% (3 of 579)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.35% (2 of 579)
vagina 0.0%
vas deferens 4.68% (18 of 385)
vascular system 0.0%
vesicular gland 0.0%
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

60 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

Human diseases caused by Lrrcc1 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 Lrrcc1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619528
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619689
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Abnormal spermatogenesis, Oligospermia, Male infertility ORPHA:1646
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Pineocytoma
Hydrocephalus, Increased CSF protein ORPHA:251912
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Male infertility, Abnormal sperm hea... OMIM:618433
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619949
Band Heterotopia
Hydrocephalus, Ventriculomegaly OMIM:600348
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Kleeblattschaedel
Hydrocephalus OMIM:148800
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hydrocephalus, Hypogonadism ORPHA:141333
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Spermatogenic Failure 15
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:616950
Spermatogenic Failure 2
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility OMIM:108420
Holoprosencephaly 5
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen... OMIM:609637
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613154
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus OMIM:300864
Acalvaria
Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Hydrocephalus ORPHA:2183
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Pettigrew Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Fried Syndrome
Hydrocephalus ORPHA:85335
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Congenital Hydrocephalus
Hydrocephalus, Colpocephaly, Ventriculomegaly ORPHA:2185
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein ORPHA:251915
Alexander Disease
Hydrocephalus, Increased CSF protein OMIM:203450
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Melanosis, Neurocutaneous
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation OMIM:249400
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Anterior encephalocele OMIM:614195
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Hypogonadism OMIM:601794
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Male infertility ORPHA:48
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility OMIM:277180
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly OMIM:610333
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Achondroplasia
Hydrocephalus OMIM:100800
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Arrhinencephaly ORPHA:1528
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation OMIM:225790
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Familial Male-Limited Precocious Puberty
Oligospermia, Male infertility ORPHA:3000
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis OMIM:307000
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Lissencephaly 5
Hydrocephalus, Occipital encephalocele OMIM:615191
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dilated fourth ventricle, Dandy-Walker malformation OMIM:220220
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Central Precocious Puberty
Hydrocephalus ORPHA:759
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Hydrocephalus With Associated Malformations
Hydrocephalus OMIM:236640
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Anencephaly, Ventriculomegaly, Occipital encephalocele, Dandy-Walker malformation OMIM:615287
Temple Syndrome
Hydrocephalus OMIM:616222
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly OMIM:618577
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly ORPHA:272
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus OMIM:600991
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
Krabbe Disease
Hydrocephalus, Increased CSF protein OMIM:245200
Thanatophoric Dysplasia Type 2
Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele ORPHA:93274
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Nephronophthisis 18
Hydrocephalus OMIM:615862
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Pallister-Hall-Like Syndrome
Hydrocephalus, Occipital encephalocele OMIM:241800
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Functioning Gonadotropic Adenoma
Amenorrhea, Infertility, Hydrocephalus, Impotence, Oligospermia, Abnormality of the menstrual cyc... ORPHA:91348
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly OMIM:602200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis OMIM:276950
Ring Chromosome Y Syndrome
Female infertility, Streak ovary, Male infertility, Abnormal spermatogenesis, Male hypogonadism, ... ORPHA:261529
Meckel Syndrome, Type 3
Hydrocephalus, Occipital encephalocele, Dandy-Walker malformation OMIM:607361
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus OMIM:613776
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Ventriculomegaly OMIM:175700
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Mental Retardation, Buenos Aires Type
Hydrocephalus OMIM:249630
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus OMIM:613603
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Spina bifida, Cervical myelopathy OMIM:207950
47,Xyy Syndrome
Azoospermia, Hydrocephalus, Oligospermia, Male infertility ORPHA:8
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:300960
Meckel Syndrome, Type 4
Hydrocephalus, Anencephaly, Meningocele, Encephalocele, Dandy-Walker malformation OMIM:611134
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Coach Syndrome 2
Hydrocephalus OMIM:619111
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Meningocele, Encephalocele ORPHA:1908
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Joubert Syndrome 14
Hydrocephalus, Dandy-Walker malformation, Encephalocele OMIM:614424
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventriculomegaly OMIM:218350
Temple Syndrome
Hydrocephalus ORPHA:254516
Gorlin Syndrome
Hypogonadotropic hypogonadism, Hydrocephalus ORPHA:377
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus ORPHA:171839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Intellectual Developmental Disorder, Autosomal Dominant 35
Hydrocephalus, Ventriculomegaly OMIM:616355
Cole-Carpenter Syndrome 1
Hydrocephalus, Communicating hydrocephalus OMIM:112240
Primary Ciliary Dyskinesia
Hydrocephalus, Female infertility, Male infertility, Ventriculomegaly, Abnormal sperm motility ORPHA:244
Classic Galactosemia
Oligomenorrhea, Primary amenorrhea, Decreased fertility in females, Secondary amenorrhea, Male in... ORPHA:79239
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly OMIM:109120
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Hemangioblastoma
Hydrocephalus ORPHA:252054
Arachnoiditis
Hydrocephalus ORPHA:137817
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Ventriculomegaly OMIM:609757
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Intellectual Developmental Disorder, Autosomal Dominant 36
Hydrocephalus, Ventriculomegaly OMIM:616362
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus OMIM:273730
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:370959
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Ciliary Dyskinesia, Primary, 14
Male infertility, Immotile sperm, Reduced sperm motility OMIM:613807
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Crouzon Syndrome
Hydrocephalus ORPHA:207
Emanuel Syndrome
Infertility, Hydrocephalus, Ventriculomegaly, Hypogonadism, Dandy-Walker malformation ORPHA:96170
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Colpocephaly, Ventriculomegaly OMIM:619833
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation OMIM:220210
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Ventriculomegaly, Communicating hydrocephalus OMIM:615219
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Hydrocephalus, Ventriculomegaly, Hypogonadism OMIM:300514
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Ventriculomegaly OMIM:618476
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Bresek Syndrome
Hydrocephalus ORPHA:85284
Hydrolethalus
Hydrocephalus, Anencephaly, Arrhinencephaly ORPHA:2189
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Muenke Syndrome
Hydrocephalus ORPHA:53271
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Ventriculomegaly OMIM:614576
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:60040
Triploidy
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus OMIM:616482
Ciliary Dyskinesia, Primary, 1
Male infertility, Communicating hydrocephalus OMIM:244400
Oculocerebrocutaneous Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Diabetic Embryopathy
Spinal dysraphism, Hydrocephalus ORPHA:1926
Griscelli Syndrome
Hydrocephalus, Encephalocele ORPHA:381
Multiple Sulfatase Deficiency
Hydrocephalus, Ventriculomegaly, Increased CSF protein OMIM:272200
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia ORPHA:90065
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Aqueductal stenosis, Ventriculomegaly, Meningocele ORPHA:1136
Holoprosencephaly 14
Hydrocephalus, Alobar holoprosencephaly, Aqueductal stenosis, Holoprosencephaly, Ventriculomegaly... OMIM:619895
3C Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:7
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Choroid plexus cyst, Hydrocephalus, Ventriculomegaly OMIM:617866
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Ventriculomegaly ORPHA:2169
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
16P13.2 Microdeletion Syndrome
Hydrocephalus, Dilated third ventricle, Ventriculomegaly, Hypogonadism ORPHA:500055
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly ORPHA:77298
Czeizel-Losonci Syndrome
Myelomeningocele, Hydrocephalus, Spina bifida, Spina bifida occulta ORPHA:2437
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:238769
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:612582
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus OMIM:603387
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Dandy-Walker malformation OMIM:612938
Trisomy 1Q
Hydrocephalus, Ventriculomegaly ORPHA:261344
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Ventriculomegaly OMIM:617822
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly ORPHA:1860
Rhombencephalosynapsis
Hydrocephalus, Ventriculomegaly ORPHA:59315
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:459061
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Walker-Warburg Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:899
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Whipple Disease
Hydrocephalus, Erectile dysfunction ORPHA:3452
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Pontocerebellar Hypoplasia, Type 7
Hydrocephalus, Ventriculomegaly OMIM:614969
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Encephalocele ORPHA:2318
Lowry-Maclean Syndrome
Hydrocephalus ORPHA:2409
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus OMIM:614886
Joubert Syndrome With Renal Defect
Hydrocephalus, Encephalocele ORPHA:220497
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Iniencephaly
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Encephalocele... ORPHA:63259
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Pelvis-Shoulder Dysplasia
Hydrocephalus, Spina bifida, Hydranencephaly ORPHA:2839
Joubert Syndrome
Hydrocephalus, Encephalocele ORPHA:475
Tenorio Syndrome
Hydrocephalus, Ventriculomegaly OMIM:616260
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus ORPHA:1834
Proteus-Like Syndrome
Hydrocephalus, Communicating hydrocephalus ORPHA:2969
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Ventriculomegaly, Holoprosencephaly OMIM:612651
Joubert Syndrome With Ocular Defect
Hydrocephalus, Encephalocele ORPHA:220493
Popov-Chang syndrome
Hydrocephalus OMIM:618428
Adams-Oliver Syndrome
Hydrocephalus, Encephalocele ORPHA:974
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:1812
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation, Cervicitis ORPHA:722
H Syndrome
Amenorrhea, Azoospermia, Hydrocephalus, Hypogonadism ORPHA:168569
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus, Irregular menstruation, Hypogonadism OMIM:101800
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Encephalocele OMIM:224400
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus OMIM:612863
Fg Syndrome Type 1
Hydrocephalus, Ventriculomegaly ORPHA:93932
Pseudotrisomy 13 Syndrome
Hydrocephalus, Holoprosencephaly, Encephalocele OMIM:264480
Genitopalatocardiac Syndrome
Hydrocephalus ORPHA:2075
Tetrasomy 5P
Hydrocephalus ORPHA:3309
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Encephalocele OMIM:614643
Achondroplasia
Hydrocephalus ORPHA:15
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis ORPHA:93259
Mirage Syndrome
Hypergonadotropic hypogonadism, Hydrocephalus OMIM:617053
Trisomy 17P
Hydrocephalus ORPHA:261290
Arachnoid Cyst
Hydrocephalus, Enlarged fossa interpeduncularis, Holoprosencephaly, Encephalocele ORPHA:2356
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Ventriculomegaly OMIM:123790
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Encephalocele ORPHA:1865
Androgen Insensitivity Syndrome
Male infertility ORPHA:754
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hydrocephalus, Lateral ventricular asymmetry OMIM:616914
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Dural Sinus Malformation
Hydrocephalus, Myelopathy ORPHA:97339
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Holoprosencephaly 7
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Semilobar holoprosencephaly OMIM:610828
Desmosterolosis
Hydrocephalus, Ventriculomegaly ORPHA:35107
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Pentalogy Of Cantrell
Hydrocephalus, Anencephaly, Encephalocele ORPHA:1335
Distal Tetrasomy 15Q
Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Dandy-Walker malformation OMIM:613001
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Ventriculomegaly, Encephalocele OMIM:613150
Joubert Syndrome 2
Hydrocephalus, Enlarged fossa interpeduncularis, Encephalocele OMIM:608091
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus OMIM:619951
Posterior Meningocele
Occipital meningocele, Hydrocephalus, Neural tube defect, Meningocele, Lipomyelomeningocele ORPHA:268810
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly ORPHA:395
Vacterl With Hydrocephalus
Hydrocephalus, Spina bifida, Aqueductal stenosis, Arrhinencephaly ORPHA:3412
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Holoprosencephaly, Encephalocele OMIM:253800
Mucopolysaccharidosis, Type Ii
Hydrocephalus OMIM:309900
Apert Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:87
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Mucopolysaccharidosis, Type Vii
Hydrocephalus OMIM:253220
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus ORPHA:1555
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus ORPHA:3301
Glutaryl-Coa Dehydrogenase Deficiency
Subependymal nodules, Ventriculomegaly, Communicating hydrocephalus ORPHA:25
Coccidioidomycosis
Hydrocephalus, CSF pleocytosis, Hypoglycorrhachia, Increased CSF protein, CSF lymphocytic pleiocy... ORPHA:228123
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Cousin Syndrome
Hydrocephalus, Hydranencephaly OMIM:260660
Cardiofaciocutaneous Syndrome 1
Hydrocephalus OMIM:115150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hydrocephalus, Ventriculomegaly, Meningoencephalocele, Occipital encephalocele, Dandy-Walker malf... OMIM:236670
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Normal pressure hydrocephalus ORPHA:300570
Hurler Syndrome
Hydrocephalus OMIM:607014
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus OMIM:616007
Desmosterolosis
Hydrocephalus, Ventriculomegaly OMIM:602398
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:314585
Pituitary Deficiency Due To Rathke Cleft Cysts
Hypogonadotropic hypogonadism, Hydrocephalus ORPHA:91350
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Occipital encephalocele ORPHA:1454
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Ventriculomegaly OMIM:259720
Cerebrooculonasal Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Encephalocele OMIM:605627
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
Monosomy 18Q
Hydrocephalus ORPHA:1600
Complete Androgen Insensitivity Syndrome
Primary amenorrhea, Male infertility ORPHA:99429
Craniopharyngioma
Hypogonadotropic hypogonadism, Hydrocephalus, Hypogonadism ORPHA:54595
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Ventriculomegaly ORPHA:228308
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Anencephaly, Holoprosencephaly OMIM:269860
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly OMIM:616546
Holoprosencephaly
Hydrocephalus, Holoprosencephaly, Spinal dysraphism, Encephalocele, Dandy-Walker malformation ORPHA:2162
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Otopalatodigital Syndrome Type 2
Myelomeningocele, Hydrocephalus, Encephalocele ORPHA:90652
7Q11.23 Microduplication Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:96121
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Dextrocardia
Hydrocephalus ORPHA:1666
Partial Androgen Insensitivity Syndrome
Azoospermia, Primary amenorrhea, Male sexual dysfunction, Male infertility ORPHA:90797
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Alexander Disease
Hydrocephalus, Aqueductal stenosis ORPHA:58
Mohr Syndrome
Hydrocephalus OMIM:252100
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Mucopolysaccharidosis Type 1
Hydrocephalus ORPHA:579
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Hydrocephalus, Colpocephaly OMIM:309801
Acrofacial Dysostosis 1, Nager Type
Hydrocephalus, Aqueductal stenosis OMIM:154400
Cardiofaciocutaneous Syndrome
Hydrocephalus ORPHA:1340
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus ORPHA:157
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Mosaic Variegated Aneuploidy Syndrome 1
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:257300
Medulloblastoma
Hydrocephalus ORPHA:616
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Primary amenorrhea, Male infertility, Male hypogonadism, Decreased fertility ORPHA:90793
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Male infertility, Hypogonadism ORPHA:85450
Hurler Syndrome
Hydrocephalus ORPHA:93473
Sacral Defect With Anterior Meningocele
Myelomeningocele, Hydrocephalus, Myeloschisis, Meningocele OMIM:600145
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus OMIM:182212
Apert Syndrome
Hydrocephalus, Ventriculomegaly OMIM:101200
Fanconi Anemia
Hydrocephalus, Decreased fertility in males, Ventriculomegaly, Hypogonadism, Azoospermia, Spina b... ORPHA:84
Monosomy 9Q22.3
Hydrocephalus, Ventriculomegaly ORPHA:77301
Otopalatodigital Syndrome, Type Ii
Hydrocephalus OMIM:304120
Jacobsen Syndrome
Hydrocephalus, Holoprosencephaly OMIM:147791
Opitz-Kaveggia Syndrome
Hydrocephalus OMIM:305450
Aymé-Gripp Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:1272
Mucopolysaccharidosis Type 3
Hydrocephalus, Ventriculomegaly ORPHA:581
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hydrocephalus, Aqueductal stenosis OMIM:619512
1Q21.1 Microdeletion Syndrome
Hydrocephalus ORPHA:250989
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hydrocephalus, Oligospermia, Primary amenorrhea, Decreased fertility ORPHA:95699
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle OMIM:619575
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Hydrocephalus OMIM:227646
Dubowitz Syndrome
Hydrocephalus, Spina bifida occulta ORPHA:235
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Hydrocephalus, Ventriculomegaly OMIM:617011
Raine Syndrome
Hydrocephalus OMIM:259775
Stromme Syndrome
Hydrocephalus OMIM:243605
Knobloch Syndrome
Hydrocephalus, Occipital encephalocele</