Gene Summary

Name:
potassium voltage-gated channel, subfamily G, member 4
Synonyms:
4921535I01Rik,  KV6.3,  KV6.4

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 Kcng4tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal brain morphology Kcng4tm1.1(KOMP)Vlcg HOM Early adult 0.00
increased circulating aspartate transaminase level Kcng4tm1.1(KOMP)Vlcg HOM Early adult 3.79×10-07

Download data as:  TSV  XLS

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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
Cerebellum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 50% (1 of 2)
Parathyroid gland  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
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 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)
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)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
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 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote Not available
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
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

24 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Kcng4 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 Kcng4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
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
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure 24
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... OMIM:617959
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
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 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
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 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size ORPHA:98797
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... ORPHA:399808
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada... ORPHA:98798
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
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
Spermatogenic Failure 2
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility OMIM:108420
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Ob... ORPHA:399805
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619949
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia, Spermatocele OMIM:301060
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Spermatogenic Failure 15
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:616950
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Morbid Obesity And Spermatogenic Failure
Infertility, Oligospermia, Azoospermia OMIM:615703
Young Syndrome
Azoospermia OMIM:279000
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... ORPHA:261529
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Delayed menarche, Hypogonadotropic hypogonadism, Primary amenorrhea, Oligomen... ORPHA:52901
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Decreased testicular size, Abnormal sperm head morphology, A... ORPHA:320391
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Decreased testicular size, Hypogonadism, Azoospermia OMIM:229070
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Spermatogenic Failure 28
Azoospermia, Decreased testicular size OMIM:618086
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decrease... OMIM:614837
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Pineocytoma
Hydrocephalus, Increased CSF protein ORPHA:251912
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Hydrocephalus OMIM:129850
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... OMIM:612650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Elevated circulating creatine kinase concentration, Ventriculomegaly, Dandy-Walker... OMIM:613154
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Micropenis, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Hypogonadism OMIM:240950
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Adrenal Hypoplasia, Congenital
Precocious puberty, Hypogonadotropic hypogonadism, Oligospermia, Azoospermia, Cryptorchidism OMIM:300200
Premature Ovarian Failure 10
Hypoplasia of the ovary, Primary amenorrhea, Decreased testicular size, Azoospermia, Premature ov... OMIM:612885
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
47,Xyy Syndrome
Micropenis, Hypospadias, Oligospermia, Varicocele, Male infertility, Azoospermia, Cryptorchidism,... ORPHA:8
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... OMIM:613807
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia ORPHA:2183
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Epilepsy, Pyridoxine-Dependent
Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde concentration OMIM:266100
Band Heterotopia
Hydrocephalus, Ventriculomegaly OMIM:600348
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Micropenis, Ovarian cyst, Hypogonadotropic hypogonadism, Abnormality o... OMIM:228300
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Ciliary Dyskinesia, Primary, 15
Infertility, Abnormal axonemal organization of respiratory motile cilia, Immotile sperm OMIM:613808
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Functioning Gonadotropic Adenoma
Amenorrhea, Infertility, Impotence, Ovarian cyst, Oligospermia, Abnormality of the menstrual cycl... ORPHA:91348
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Oligomenorrhea, Oligospermia, Hypogonadism ORPHA:91351
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Kleeblattschaedel
Hydrocephalus OMIM:148800
Ciliary Dyskinesia, Primary, 22
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:615444
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad... ORPHA:90797
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Azoospermia, Cryptorchidism OMIM:614897
Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormal spermatogenesis ORPHA:90646
Lead Poisoning
Infertility, Decreased male libido, Reduced sperm motility, Oligospermia, Abnormality of the mens... ORPHA:330015
Ciliary Dyskinesia, Primary, 40
Infertility, Absent outer dynein arms, Azoospermia OMIM:618300
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:261519
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
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
Myotonic Dystrophy 2
Oligospermia, Hypogonadism OMIM:602668
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Generalized Glucocorticoid Resistance Syndrome
Infertility, Precocious puberty, Oligomenorrhea, Oligospermia, Ambiguous genitalia, Female pseudo... ORPHA:786
Holoprosencephaly 5
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen... OMIM:609637
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... OMIM:278850
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Ovotestis, Clitoral hypertrophy, True hermaphroditi... OMIM:400045
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus OMIM:300864
Acalvaria
Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Male infertility, Hypogonadism, Abnormal testis morphology, Primary testicular failure ORPHA:85450
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Impotence, Hypoplasia of the ovary, Hypoplasia of the uterus, Cryptorchi... ORPHA:432
Complete Androgen Insensitivity Syndrome
Blind vagina, Primary amenorrhea, Female external genitalia in individual with 46,XY karyotype, T... ORPHA:99429
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Gapo Syndrome
Amenorrhea, Oligospermia, Dysmenorrhea, Hypogonadism ORPHA:2067
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, Azoospe... OMIM:308700
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Azoospermia OMIM:235200
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
Muscle-Eye-Brain Disease
Hydrocephalus, Elevated circulating creatine kinase concentration, Meningocele, Holoprosencephaly ORPHA:588
Alexander Disease
Hydrocephalus, Increased CSF protein OMIM:203450
Classic Galactosemia
Oligomenorrhea, Primary amenorrhea, Decreased fertility in females, Secondary amenorrhea, Male in... ORPHA:79239
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Elevated circulating creatine kinase concentration, Anencephaly, Ventriculomegaly,... OMIM:615287
Melanosis, Neurocutaneous
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation OMIM:249400
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Anterior encephalocele OMIM:614195
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligospermia, Clitoral hypoplasia OMIM:614813
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Elevated circulating creatine kinase concentration, Ventriculomegaly, Dandy-Walker... OMIM:613153
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Temple Syndrome
Hypertriglyceridemia, Hydrocephalus, Hypercholesterolemia OMIM:616222
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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Elevated circulating creatine kinase concentration OMIM:615181
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Precocious puberty in females, Blind vagina, Ambiguous genitalia, male, Micropenis, Ovarian cyst,... ORPHA:90793
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation OMIM:225790
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Hypogonadism ORPHA:300298
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased fertility in males, Ambiguous genitalia, male, Male pseudo... ORPHA:90791
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
Aromatase Deficiency
Female infertility, Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Primary amenorrh... ORPHA:91
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Lissencephaly 5
Hydrocephalus, Occipital encephalocele OMIM:615191
Coach Syndrome 2
Hydrocephalus, Elevated circulating creatinine concentration OMIM:619111
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
Bloom Syndrome
Male infertility, Azoospermia, Oligospermia, Premature ovarian insufficiency ORPHA:125
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
Infantile Sialic Acid Storage Disease
Hydrocephalus, Conjugated hyperbilirubinemia OMIM:269920
Hydrocephalus With Associated Malformations
Hydrocephalus OMIM:236640
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
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
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus OMIM:600991
Diphallia
Distal urethral duplication, Bifid scrotum, Hypospadias, Rectoperineal fistula, Ectopic scrotum, ... ORPHA:227
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
B4Galt1-Cdg
Decreased LDL cholesterol concentration, Hydrocephalus, Elevated circulating creatine kinase conc... ORPHA:79332
Plasminogen Deficiency, Type I
Hydrocephalus, Decreased level of plasminogen, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Krabbe Disease
Hydrocephalus, Increased CSF protein OMIM:245200
Thanatophoric Dysplasia Type 2
Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele ORPHA:93274
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal external genitalia, Micropenis, Abnormal ovarian morphology, Abnormality of male externa... ORPHA:95699
Nephronophthisis 18
Hydrocephalus OMIM:615862
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Pallister-Hall-Like Syndrome
Hydrocephalus, Occipital encephalocele OMIM:241800
Carney Complex
Sertoli cell neoplasm, Precocious puberty, Decreased fertility in males, Ovarian cyst, Leydig cel... ORPHA:1359
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Elevated circulating creatine kinase concentration, Dilated fourth ventricle, Vent... ORPHA:370959
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
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
Coccidioidomycosis
Abnormal sperm morphology, Abnormality of the male genitalia, Abnormality of the female genitalia ORPHA:228123
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
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Spina bifida, Cervical myelopathy OMIM:207950
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Streak ovary, Micropenis, Hypoplasia of the fallopian tube, Abnormal sp... ORPHA:3464
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
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Elevated circulating creatine kinase concentration, Ventriculomegaly OMIM:616538
Renal Cysts And Diabetes Syndrome
Hypoplasia of the uterus, Bicornuate uterus, Atretic vas deferens, Reduced sperm motility, Hyposp... OMIM:137920
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Meningocele, Encephalocele ORPHA:1908
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Hypocalcemia, Ventriculomegaly OMIM:618476
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Joubert Syndrome 14
Hydrocephalus, Dandy-Walker malformation, Encephalocele OMIM:614424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Elevated circulating creatine kinase concentration OMIM:615249
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventriculomegaly OMIM:218350
Temple Syndrome
Hydrocephalus ORPHA:254516
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus ORPHA:171839
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Elevated circulating creatine kinase concentration, Ventriculomegaly OMIM:614576
Intellectual Developmental Disorder, Autosomal Dominant 35
Hydrocephalus, Ventriculomegaly OMIM:616355
Cole-Carpenter Syndrome 1
Hydrocephalus, Communicating hydrocephalus OMIM:112240
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
Albers-Schönberg Osteopetrosis
Hydrocephalus, Hypocalcemia ORPHA:53
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility OMIM:227650
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
Griscelli Syndrome
Abnormal circulating lipid concentration, Hydrocephalus, Encephalocele ORPHA:381
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus OMIM:273730
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Hydrocephalus, Ventriculomegaly, Hyperhomocystinemia ORPHA:2169
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia, Hypercholesterolemia ORPHA:90065
Crouzon Syndrome
Hydrocephalus ORPHA:207
Tetrasomy 9P
Infertility, Cryptorchidism, Micropenis, Oligospermia, Polymicrogyria, Lissencephaly, Pachygyria ORPHA:3310
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
Walker-Warburg Syndrome
Abnormal circulating creatine kinase concentration, Hydrocephalus, Ventriculomegaly, Dandy-Walker... ORPHA:899
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hydrocephalus, Hyperlipidemia, Hyperammonemia, ... ORPHA:228308
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Ventriculomegaly, Communicating hydrocephalus OMIM:615219
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration OMIM:614886
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hydrocephalus, Hyperlipidemia, Elevated circula... ORPHA:157
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Bresek Syndrome
Hydrocephalus ORPHA:85284
Hydrolethalus
Hydrocephalus, Anencephaly, Arrhinencephaly ORPHA:2189
Gorlin Syndrome
Hydrocephalus ORPHA:377
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Muenke Syndrome
Hydrocephalus ORPHA:53271
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Elevated circulating creatine kinase concentration, Ventriculomegaly, Encephalocel... OMIM:614643
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:60040
Triploidy
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus OMIM:616482
Gracile Bone Dysplasia
Hydrocephalus, Hypocalcemia OMIM:602361
Oculocerebrocutaneous Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Diabetic Embryopathy
Spinal dysraphism, Hydrocephalus ORPHA:1926
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Elevated circulating creatine kinase concentration, Ventriculomegaly, Encephalocele OMIM:613150
Multiple Sulfatase Deficiency
Hydrocephalus, Ventriculomegaly, Increased CSF protein OMIM:272200
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Hypomethioninemia, Hyperhomocystinemia, Cystathioninemia, Ventriculomegaly ORPHA:395
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
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
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
Emanuel Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:96170
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
Hypoplasminogenemia
Hydrocephalus, Decreased level of plasminogen, Dandy-Walker malformation ORPHA:722
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus, Hypocalcemia OMIM:259700
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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Elevated circulating creatine kinase concentration, Holoprosencephaly, Encephalocele OMIM:253800
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly ORPHA:1860
Rhombencephalosynapsis
Hydrocephalus, Ventriculomegaly ORPHA:59315
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
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
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
Joubert Syndrome With Renal Defect
Hydrocephalus, Encephalocele ORPHA:220497
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus, Hypomethioninemia, Hyperhomocystinemia, Cystathioninemia, Methylmalonic acidemia OMIM:277400
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
16P13.2 Microdeletion Syndrome
Hydrocephalus, Dilated third ventricle, Ventriculomegaly ORPHA:500055
Osteootohepatoenteric Syndrome
Hydrocephalus, Hypokalemia, Increased serum bile acid concentration OMIM:619377
Tenorio Syndrome
Hydrocephalus, Ventriculomegaly OMIM:616260
Whipple Disease
Hydrocephalus, Hyponatremia ORPHA:3452
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hydrocephalus, Elevated circulating creatine kinase concentration, Ventriculomegaly, Meningoencep... OMIM:236670
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus ORPHA:1834
Fanconi Anemia, Complementation Group B
Hydrocephalus, Ventriculomegaly OMIM:300514
Proteus-Like Syndrome
Hydrocephalus, Communicating hydrocephalus ORPHA:2969
Mirage Syndrome
Hydrocephalus, Hyperkalemia, Hyponatremia OMIM:617053
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
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Encephalocele OMIM:224400
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus OMIM:612863
Desmosterolosis
Hydrocephalus, Abnormal circulating cholesterol concentration, Ventriculomegaly OMIM:602398
Fg Syndrome Type 1
Hydrocephalus, Ventriculomegaly ORPHA:93932
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Hypocalcemia, Ventriculomegaly, Hyperbilirubinemia OMIM:259720
Pseudotrisomy 13 Syndrome
Hydrocephalus, Holoprosencephaly, Encephalocele OMIM:264480
Genitopalatocardiac Syndrome
Hydrocephalus ORPHA:2075
Tetrasomy 5P
Hydrocephalus ORPHA:3309
Achondroplasia
Hydrocephalus ORPHA:15
Congenital Sialidosis Type 2
Hydrocephalus