Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Adgb MGI:3605549

Gene Summary

Name:

androglobin

Synonyms:

9130014G24Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
male infertility	Adgb^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal uterus morphology	Adgb^em1(IMPC)Mbp	HET	Early adult	0.00
increased eosinophil cell number	Adgb^em1(IMPC)Mbp	HET	Early adult	2.26×10^-06
abnormal kidney morphology	Adgb^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal eye morphology	Adgb^em1(IMPC)Mbp	HET	Early adult	0.00
hydrometra	Adgb^em1(IMPC)Mbp	HET	Early adult	0.00
increased skeletal muscle mass	Adgb^em1(IMPC)Mbp	HOM	Early adult	0.00
hydrocephaly	Adgb^em1(IMPC)Mbp	HOM	Early adult	0.00
increased freezing behavior	Adgb^em1(IMPC)Mbp	HET	Early adult	2.10×10^-05
abnormal brain morphology	Adgb^em1(IMPC)Mbp	HOM	Early adult	0.00

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

90 Images

View images

MicroCT E18.5

Embryo reconstruction

8 Images

View images

Histopathology

Images

8 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

30 Images

View images

Human diseases caused by Adgb 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.

Human diseases associated with Adgb (0 diseases)
Human diseases predicted to be associated with Adgb (848 diseases)

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

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

Disease	Matching phenotypes	Source
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ...	ORPHA:529970
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 51	Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp...	OMIM:619177
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Spermatogenic Failure 8	Azoospermia, Cryptozoospermia, Oligozoospermia	OMIM:613957
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Isochromosomy Yp	Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test...	ORPHA:98797
Spermatogenic Failure 12	Azoospermia, Infertility, Abnormal male germ cell morphology	OMIM:615413
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l...	ORPHA:399808
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Spermatogenic Failure 13	Azoospermia	OMIM:615841
Deleted in azoospermia	Azoospermia	OMIM:400003
Spermatogenic Failure 24	Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce...	OMIM:617959
Spermatogenic Failure 38	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co...	OMIM:618433
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Spermatogenic Failure, X-Linked, 6	Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo...	OMIM:301101
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Isochromosomy Yq	Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc...	ORPHA:98798
Spermatogenic Failure 17	Male infertility	OMIM:617214
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone...	OMIM:108420
Testes, Rudimentary	Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia	OMIM:273150
Ciliary Dyskinesia, Primary, 50	Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ...	OMIM:620356
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation	OMIM:261550
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
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome	Decreased testicular size	ORPHA:436144
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ...	ORPHA:399805
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ...	OMIM:619949
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Spermatocele, Obstructive azoospermia	OMIM:301060
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus, Trapezius muscle aplasia	OMIM:600257
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S...	OMIM:616950
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen...	OMIM:614840
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Morbid Obesity And Spermatogenic Failure	Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia	OMIM:615703
Immunodeficiency 88	Eosinophilia	OMIM:619630
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia, Absent vas deferens	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia, Absent vas deferens	OMIM:277180
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Ring Chromosome Y Syndrome	Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt...	ORPHA:261529
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Spermatogenic Failure 14	Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti...	OMIM:615842
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Precocious Puberty, Male-Limited	Decreased testicular size, Precocious puberty in males	OMIM:176410
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Spermatogenic Failure, X-Linked, 4	Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos...	OMIM:301077
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:620197
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Kennedy Disease	Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Congenital Disorder Of Glycosylation, Type Iid	Myopathy, Decreased muscle mass, Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl...	OMIM:229070
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre...	OMIM:146110
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia	OMIM:607685
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Enuresis, Irritability, Tics, ...	ORPHA:66624
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n...	OMIM:212050
Adrenal Hypoplasia, Congenital	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio...	OMIM:300200
Autosomal Recessive Spastic Paraplegia Type 46	Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm...	ORPHA:320391
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea	OMIM:614858
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Esophagitis, Eosinophilic, 2	Eosinophilia, Dysphagia	OMIM:613412
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Esophagitis, Eosinophilic, 1	Eosinophilia, Dysphagia	OMIM:610247
Microphthalmia, Isolated 4	Absent testis	OMIM:613094
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose...	ORPHA:91348
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
Ciliary Dyskinesia, Primary, 45	Male infertility, Absent inner and outer dynein arms	OMIM:618801
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo...	ORPHA:8
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligozoospermia	OMIM:314300
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Kimura Disease	Eosinophilia	ORPHA:482
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:601859
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Muscular dystrophy, Ventriculomegaly	OMIM:614830
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus	OMIM:166990
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb...	OMIM:226990
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Frontal encephalocele, Congenital diaphragmatic hernia	ORPHA:261102
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Eosinophilia, Abnormally low T cell receptor excision circle level	OMIM:618092
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Ciliary Dyskinesia, Primary, 34	Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti...	OMIM:617091
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A...	OMIM:619566
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S...	OMIM:300696
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Horseshoe kidney, Abnormality of the uterus, Vesicoureteral reflux,...	OMIM:617805
Roifman Syndrome	Hypogonadotropic hypogonadism, Eosinophilia, Hepatosplenomegaly	ORPHA:353298
Androgen Insensitivity, Partial	Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad...	OMIM:312300
1Q21.1 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Arthrogryposis multiplex congenita	ORPHA:250994
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Hydrocephalus, Flexion contracture, Macroglossia, Calf muscle hypertrophy, Muscular...	OMIM:613155
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Eosinophilia, Cutaneous abscess	OMIM:147060
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eosinophilia	OMIM:618523
Fried Syndrome	Skeletal muscle atrophy, Hydrocephalus	ORPHA:85335
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig...	ORPHA:91351
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Anorexia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lymphop...	ORPHA:169160
Muscle Hypertrophy	Skeletal muscle hypertrophy	OMIM:614160
Wells Syndrome	Eosinophilia	ORPHA:901
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Cinca Syndrome	Leukocytosis, Eosinophilia, Anemia, Hepatosplenomegaly	OMIM:607115
46,Xy Sex Reversal 11	Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem...	OMIM:273250
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi...	OMIM:308750
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Congenital muscular dystrophy, Ventriculomegaly	ORPHA:324416
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula...	OMIM:614897
Autoinflammation, Immune Dysregulation, And Eosinophilia	Nephrotic syndrome, Membranous nephropathy, Eosinophilia, Hepatosplenomegaly	OMIM:618999
Immunodeficiency 7	Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia	OMIM:615387
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior	ORPHA:208441
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Eosinophilic Gastroenteritis	Leukocytosis, Eosinophilia, Anemia, Dysphagia	ORPHA:2070
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Congenital Muscular Dystrophy With Intellectual Disability	Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl...	ORPHA:370968
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia	OMIM:253600
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic ...	OMIM:304790
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l...	ORPHA:99429
Developmental And Epileptic Encephalopathy 36	Hydrocephalus, Flexion contracture	OMIM:300884
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Eosinophilia, Genital ulcers, Splenomegaly, B lymphocytopenia, Abnormally ...	OMIM:602450
Omenn Syndrome	Eosinophilia, Splenomegaly, Leukocytosis, Nephrotic syndrome, Abnormal lymphocyte morphology, Anemia	ORPHA:39041
Roifman Syndrome	Splenomegaly, Eosinophilia	OMIM:616651
Cystic Echinococcosis	Eosinophilia, Abnormality of the testis size, Abscess, Renal cyst, Ovarian cyst, Membranous nephr...	ORPHA:400
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Immunodeficiency 25	T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia	OMIM:610163
Biemond Syndrome Type 2	Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism	ORPHA:141333
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Ciliary Dyskinesia, Primary, 18	Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm	OMIM:614874
Peeling Skin Syndrome 1	Eosinophilia	OMIM:270300
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Macro...	ORPHA:3077
Lead Poisoning	Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Decreased circulati...	ORPHA:330015
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Distal lower limb amyotrophy, Hand muscle weakness, Quadriceps muscle weakness, Hydrocephalus, Fl...	ORPHA:99947
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Hydrocephalus, Flexion contract...	ORPHA:272
Hemihyperplasia, Isolated	Skeletal muscle hypertrophy, Myelomeningocele	OMIM:235000
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus, Elbow flexion contracture	OMIM:619470
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow hypocellularity...	OMIM:619151
Hemochromatosis, Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame...	OMIM:235200
Masa Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:303350
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal...	OMIM:158330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy...	OMIM:608840
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Sterile abscess, Eosinophilia, Cutaneous abscess	OMIM:618282
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia	OMIM:243700
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas...	OMIM:266810
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Ciliary Dyskinesia, Primary, 9	Male infertility, Absent outer dynein arms	OMIM:612444
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Pgm3-Cdg	Hemolytic anemia, Membranoproliferative glomerulonephritis, Abnormal proportion of CD8-positive T...	ORPHA:443811
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Charcot-Marie-Tooth Disease Type 1B	Skeletal muscle hypertrophy, Skeletal muscle atrophy, Increased CSF protein concentration	ORPHA:101082
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i...	OMIM:613157
Rippling Muscle Disease 2	Skeletal muscle hypertrophy, Calf muscle hypertrophy	OMIM:606072
Ciliary Dyskinesia, Primary, 14	Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ...	OMIM:613807
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Myotonic Dystrophy 2	Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,...	OMIM:602668
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ...	ORPHA:168563
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Acute Generalized Exanthematous Pustulosis	Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Neutropenia	ORPHA:293173
Igg4-Related Aortitis	Hypereosinophilia, Hydronephrosis	ORPHA:449400
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Facial palsy, Cryptorchidism, Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Mus...	OMIM:613156
Rippling Muscle Disease 1	Skeletal muscle hypertrophy	OMIM:600332
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Skeletal muscle hypertrophy, Muscular dystrophy	OMIM:613158
L1 Syndrome	Aqueductal stenosis, Skeletal muscle atrophy, Hydrocephalus	ORPHA:275543
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Flexion contracture, Skeletal ...	OMIM:611588
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Aspergillosis	Eosinophilia, Neutropenia	ORPHA:1163
Immunodeficiency 23	Hemolytic anemia, Membranoproliferative glomerulonephritis, Eosinophilia, Abscess, Neutropenia, L...	OMIM:615816
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado...	OMIM:194072
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism	ORPHA:2183
Hydatidiform Mole	Enlarged uterus, Anemia	ORPHA:99927
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Hypereosinophilia	ORPHA:2902
Classic Galactosemia	Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ...	ORPHA:79239
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Eosinophilia, Tubulointerstitial nephritis, Nephrotic syndrome, Lymphocytosis	ORPHA:139402
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Orchitis, Epididymitis, Hypereosinophilia, Vaginal hydrocele, Hy...	ORPHA:2035
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus	OMIM:619302
Premature Ovarian Failure 7	Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy	OMIM:612964
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus	OMIM:601076
Eosinophilic Granulomatosis With Polyangiitis	Renal insufficiency, Proteinuria, Eosinophilia, Hematuria, Tubulointerstitial nephritis, Dysphagia	ORPHA:183
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp...	ORPHA:85450
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Hydrocephalus	OMIM:300886
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy	OMIM:160900
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy,...	ORPHA:370959
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of th...	OMIM:102700
Bone Marrow Failure Syndrome 5	Hypogonadism, Testicular atrophy	OMIM:618165
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis	ORPHA:2239
Autoinflammation With Arthritis And Dyskeratosis	Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia	OMIM:617388
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Greig Cephalopolysyndactyly Syndrome	Abnormal muscle fiber morphology, Cryptorchidism, Hydrocephalus, Camptodactyly of toe, Joint cont...	OMIM:175700
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of...	ORPHA:3109
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o...	ORPHA:325124
Loeffler Endocarditis	Eosinophilia	ORPHA:75566
Angiostrongyliasis	Irritability, Hypereosinophilia	ORPHA:74
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,...	OMIM:614841
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Ciliary Dyskinesia, Primary, 19	Male infertility, Absent inner and outer dynein arms	OMIM:614935
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Proximal renal tubular aci...	OMIM:146255
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus, Hypogonadism	OMIM:601794
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Renal insufficiency, Eosinophilia, Glomerulonephrit...	ORPHA:3261
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Congenital diaphragmatic hernia	ORPHA:380
Netherton Syndrome	Hypereosinophilia	OMIM:256500
Central Precocious Puberty In Male	Hydrocephalus, Abnormality of the testis size	ORPHA:649929
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Hydrocephalus, Muscular dystrophy, Left ventricular hypertrophy, Dandy-Walker m...	OMIM:613153
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,...	OMIM:614837
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Aicardi-Goutieres Syndrome 4	Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis	OMIM:610333
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul...	OMIM:616034
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased proportion of CD8-positive T cells, Hypereosinophilia, Horseshoe kidney, T lymphocytope...	ORPHA:508533
Muscle-Eye-Brain Disease	Myopathy, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Hemangioblastoma	Upper limb muscle weakness, Hydrocephalus, Lower limb muscle weakness	ORPHA:252054
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele	ORPHA:1528
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Iga Pemphigus	Eosinophilia, Cutaneous abscess	ORPHA:555905
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Cryptorchidism, Hydrocephalus, Ventriculomegaly	OMIM:618577
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Eosinophilia, Anorexia	ORPHA:199299
Gapo Syndrome	Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea	ORPHA:2067
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Autosomal Dominant Hyper-Ige Syndrome	Eosinophilia	ORPHA:2314
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Eosinophilia, Leukocytosis, Horseshoe kidney, Hepatosplenomegaly, Anemia, A...	OMIM:274000
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia	OMIM:617425
Perrault Syndrome 3	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:614129
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Ventriculomegaly	OMIM:304100
Premature Ovarian Failure 13	Hypoplasia of the uterus	OMIM:617442
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus	OMIM:618174
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly	ORPHA:2182
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Vitamin K Antagonist Embryofetopathy	Macroglossia, Myelomeningocele, Hydrocephalus	ORPHA:1914
Congenital Toxoplasmosis	Hydrocephalus, Ventriculomegaly	ORPHA:858
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology	ORPHA:1164
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi...	ORPHA:83628
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia	OMIM:617466
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr...	ORPHA:2686
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Ovarian Dysgenesis 5	Hypoplasia of the uterus	OMIM:617690
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Renal cyst, Abnormal spleen morphology, Anemia, Cutaneous abscess	ORPHA:284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Hydrocephalus, Flexion contracture, Lateral ventricle dilatation, Muscular dyst...	OMIM:613154
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus, Muscular dystrophy	OMIM:615181
Coccidioidomycosis	Abnormal sperm morphology, Renal insufficiency, Eosinophilia, Abscess, Abnormality of the spleen,...	ORPHA:228123
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:602501
Oxoglutaric Aciduria	Skeletal muscle atrophy, Hydrocephalus	ORPHA:31
Myopathy, Centronuclear, X-Linked	Facial palsy, Cryptorchidism, Hydrocephalus, Flexion contracture, Diaphragmatic eventration, Dand...	OMIM:310400
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Attention deficit hyperactivity di...	OMIM:617914
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Limb muscle weakness	OMIM:207950
Vaginal Atresia	Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A...	ORPHA:65681
Mucoepithelial Dysplasia, Hereditary	Hematuria, Eosinophilia	OMIM:158310
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hypoplasia of the musculature, Hydrocephalus, Hydranencephaly, Joint contractur...	OMIM:225790
Igg4-Related Kidney Disease	Renal insufficiency, Proteinuria, Eosinophilia, Nephrotic range proteinuria, Urinary bladder infl...	ORPHA:449395
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:83473
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Houge-Janssens Syndrome 1	Congenital muscular torticollis, Hydrocephalus, Facial hypotonia, Ventriculomegaly	OMIM:616355
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary	OMIM:612310
Wolfram Syndrome 1	Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus	OMIM:222300
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye...	ORPHA:3260
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depression, Incr...	ORPHA:100924
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619203
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Symptomatic Form Of Hfe-Related Hemochromatosis	Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti...	ORPHA:465508
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Clitoral hypoplasia, Diabetes mellitus, Breast hypoplasia, Oligozoospermia	OMIM:614813
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:163961
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619665
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate...	OMIM:305400
Aase-Smith Syndrome I	Hydrocephalus, Flexion contracture, Dandy-Walker malformation	OMIM:147800
Incontinentia Pigmenti	Eosinophilia, Attention deficit hyperactivity disorder	ORPHA:464
Temple Syndrome	Cryptorchidism, Hydrocephalus, Flexion contracture, Decreased testicular size	OMIM:616222
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus	OMIM:307000
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Igg4-Related Pachymeningitis	Nephritis, Eosinophilia, Dysphagia	ORPHA:449427
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Septate vagina, Unilateral renal agenesis, Uterus didelphys, Hydronephrosis,...	ORPHA:2237
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Carney Complex	Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O...	ORPHA:1359
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Hydrocephalus, Ventriculomegaly, Knee flexion contracture	OMIM:603387
Temple Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:254516
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen...	OMIM:154230
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Metatropic Dysplasia	Hydrocephalus, Camptodactyly of finger	ORPHA:2635
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ...	ORPHA:432
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Cryptorchidism, Hydrocephalus	ORPHA:2701
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co...	OMIM:620351
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:171839
Craniofacial Dyssynostosis With Short Stature	Cryptorchidism, Hydrocephalus, Ventriculomegaly	OMIM:218350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, ...	OMIM:613150
Triploidy	Cryptorchidism, Hydrocephalus, Meningocele, Macroglossia, Holoprosencephaly	ORPHA:3376
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Hogue-Janssen Syndrome 2	Hydrocephalus, Facial hypotonia, Ventriculomegaly	OMIM:616362
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Immunodeficiency 89 And Autoimmunity	Decreased eosinophil count, Hypochromic microcytic anemia	OMIM:619632
Infantile Sialic Acid Storage Disease	Hydrocephalus	OMIM:269920
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Prostatitis, Eosinophilia	ORPHA:449432
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Bloom Syndrome	Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Oligozoospermia, Azoospermia	ORPHA:125
Satoyoshi Syndrome	Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u...	ORPHA:3130
Williams-Beuren Region Duplication Syndrome	Cryptorchidism, Hydrocephalus, Ventriculomegaly	OMIM:609757
Incontinentia Pigmenti	Leukocytosis, Eosinophilia	OMIM:308300
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Absent extraocular muscles, Ventriculomegaly	OMIM:109120
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation, Limb hypertonia	OMIM:614219
Diabetic Embryopathy	Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the abdominal wall musculature, Spinal dysra...	ORPHA:1926
Myotonia Congenita, Autosomal Recessive	Skeletal muscle hypertrophy, Muscle hypertrophy of the lower extremities	OMIM:255700
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Dandy-Walker ma...	ORPHA:1647
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus, Flexion contracture	OMIM:613330
Emanuel Syndrome	Ventriculomegaly, Multiple joint contractures, Congenital diaphragmatic hernia, Cryptorchidism, H...	ORPHA:96170
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Meckel Syndrome 12	Hypoplasia of the uterus, Ureteral hypoplasia, Vaginal atresia, Renal hypoplasia	OMIM:616258
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly	ORPHA:1908
Walker-Warburg Syndrome	Skeletal muscle atrophy, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Muscular dystrophy, Apl...	ORPHA:899
Emanuel Syndrome	Torticollis, Ventriculomegaly, Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Jo...	OMIM:609029
Gorlin Syndrome	Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism	ORPHA:377
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Renal salt wasting, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism,...	ORPHA:168558
Coach Syndrome 2	Hydrocephalus	OMIM:619111
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am...	OMIM:157640
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Renal salt wasting, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism,...	ORPHA:289548
Bresek Syndrome	Cryptorchidism, Hydrocephalus, Decreased testicular size	ORPHA:85284
Chromosome 17Q12 Deletion Syndrome	Multicystic kidney dysplasia, Unilateral renal agenesis, Cryptorchidism, Urethral stenosis, Pica,...	OMIM:614527
Thanatophoric Dysplasia	Hydrocephalus, Ventriculomegaly	ORPHA:2655
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus	OMIM:241800
Oeis Complex	Hydroureter, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal...	OMIM:258040
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Spina bifida, Myelomeningocele, Hydrocephalus, Aplasia of th...	ORPHA:2437
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Colpocephaly, Hydrocephalus, Distal arthrogryposis, Ventriculomegaly	OMIM:619833
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation	OMIM:611134
Sarcoidosis	Hemolytic anemia, Renal insufficiency, Eosinophilia, Abnormal reproductive system morphology, Inc...	ORPHA:797
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus	OMIM:276950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Hydrocephalus, Muscular dystrophy, Ventriculomegaly	OMIM:616538
Primary Ciliary Dyskinesia	Male infertility, Female infertility, Hydrocephalus, Abnormal sperm motility, Ventriculomegaly	ORPHA:244
Trisomy 1Q	Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Ventricu...	ORPHA:261344
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Perrault Syndrome 4	Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary	OMIM:615300
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Congenital contracture, Hydrocephalus, Colpocephaly, Ventriculomegaly	OMIM:620156
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Flexion contracture, Muscular dystrophy	OMIM:615249
Edinburgh Malformation Syndrome	Hydrocephalus	ORPHA:1895
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Ventriculomegaly	OMIM:615630
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Skeletal muscle atrophy, Hydrocephalus, Flexion contracture, Calf muscle hypertrop...	OMIM:253800
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary	ORPHA:247768
Ciliary Dyskinesia, Primary, 1	Male infertility, Absent outer dynein arms	OMIM:244400
Pontocerebellar Hypoplasia, Type 7	Cryptorchidism, Ventriculomegaly, Hydrocephalus, Skeletal muscle atrophy	OMIM:614969
Trisomy 17P	Macroglossia, Skeletal muscle atrophy, Hydrocephalus, Flexion contracture	ORPHA:261290
Albers-Schönberg Osteopetrosis	Hydrocephalus, Facial palsy	ORPHA:53
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation, Camptodactyly	OMIM:614846
Lesch-Nyhan Syndrome	Testicular atrophy	OMIM:300322
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Flexion contracture, Dandy-Walker malformation, Ventriculomegaly	OMIM:304340
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Aplasia of the uterus, ...	OMIM:614083
Genitopalatocardiac Syndrome	Cryptorchidism, Hydrocephalus, Congenital diaphragmatic hernia	ORPHA:2075
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Igg4-Related Ophthalmic Disease	Orchitis, Prostatitis, Eosinophilia	ORPHA:449563
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Methylcobalamin Deficiency Type Cble	Lower limb hypertonia, Hydrocephalus, Ventriculomegaly	ORPHA:2169
Acquired Aneurysmal Subarachnoid Hemorrhage	Left ventricular hypertrophy, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate	ORPHA:90065
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cryptorchidism, Hydrocephalus, Flexion contracture, Hypogonadism, Dilated third ventricle, Ventri...	ORPHA:500055
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Hydrolethalus	Cryptorchidism, Hydrocephalus, Anencephaly	ORPHA:2189
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Thrombocytopenia, Horseshoe kidney	ORPHA:3320
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Camptodactyly, Arthrogryposis multiplex congenita, Dandy-Walker malformation, Vent...	OMIM:617822
Tenorio Syndrome	Macroglossia, Hydrocephalus, Ventriculomegaly	OMIM:616260
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Dandy-Walker malformation	OMIM:220210
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron...	OMIM:271520
Lowry-Maclean Syndrome	Bilateral cryptorchidism, Hydrocephalus, Congenital diaphragmatic hernia	ORPHA:2409
Dystonia 7, Torsion	Skeletal muscle hypertrophy, Torticollis	OMIM:602124
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Hydrocephalus, Holoprosencephaly	ORPHA:77298
Satoyoshi Syndrome	Hypoplasia of the uterus	OMIM:600705
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Arachnoiditis	Hydrocephalus	ORPHA:137817
Large Congenital Melanocytic Nevus	Hydrocephalus, Rhabdomyosarcoma	ORPHA:626
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Fanconi Anemia, Complementation Group A	Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism	OMIM:227650
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Intellectual Developmental Disorder, Autosomal Dominant 65	Facial hypotonia, Noncommunicating hydrocephalus	OMIM:619320
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	OMIM:612938
Cidec-Related Familial Partial Lipodystrophy	Skeletal muscle hypertrophy, Calf muscle hypertrophy, Oligomenorrhea	ORPHA:435651
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly	OMIM:615219
Renal Cysts And Diabetes Syndrome	Hypospadias, Proteinuria, Unilateral renal agenesis, Renal hypoplasia, Renal cyst, Stage 5 chroni...	OMIM:137920
Iniencephaly	Encephalocele, Congenital diaphragmatic hernia, Spina bifida, Myelomeningocele, Hydrocephalus, An...	ORPHA:63259
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Cryptorchidism	ORPHA:1237
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus	OMIM:620157
Congenital Disorder Of Glycosylation, Type Iil	Hydrocephalus, Ventriculomegaly	OMIM:614576
Fanconi Anemia, Complementation Group B	Hypogonadism, Hydrocephalus, Hypergonadotropic hypogonadism, Ventriculomegaly	OMIM:300514
Peho Syndrome	Arthrogryposis multiplex congenita, Hydrocephalus, Flexion contracture, Ventriculomegaly	ORPHA:2836
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Hec Syndrome	Communicating hydrocephalus, Vaginal hydrocele	ORPHA:2119
Cutis Laxa, Autosomal Recessive, Type Iib	Decreased muscle mass, Hydrocephalus	OMIM:612940
Estrogen Resistance	Hypoplasia of the uterus, Polycystic ovaries	OMIM:615363
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Dandy-Walker malformation, Camptodactyly	ORPHA:459061
Griscelli Syndrome	Encephalocele, Hydrocephalus	ORPHA:381
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Dandy-Walker malformation	OMIM:614424
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie...	ORPHA:90796
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Distal Triplication 15Q	Hydrocephalus, Flexion contracture, Hydrocele testis, Camptodactyly, Dandy-Walker malformation	ORPHA:314588
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:60040
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Cryptorchidism, Hydrocephalus, Flexion contracture	ORPHA:1865
Chromosome 17P13.1 Deletion Syndrome	Spina bifida, Hydrocephalus, Elbow flexion contracture, Knee flexion contracture, Hydrocele testi...	OMIM:613776
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Congenital diaphragmatic hernia	ORPHA:1834
Lhermitte-Duclos Disease	Macroglossia, Hydrocephalus	ORPHA:65285
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Dandy-Walker malformation	OMIM:612582
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus, Joint contracture of the hand, Camptodactyly	OMIM:224400
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
3C Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:7
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus, Facial paralysis	OMIM:259710
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Cryptorchidism, Hydrocephalus, Camptodactyly of finger	OMIM:619951
Whipple Disease	Myositis, Hydrocephalus, Erectile dysfunction	ORPHA:3452
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Hyperactivity, Aplasia of the vagina, Aplasia of the uterus	ORPHA:457284
Fg Syndrome Type 1	Cryptorchidism, Hydrocephalus, Progressive flexion contractures, Ventriculomegaly	ORPHA:93932
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Meckel Syndrome 14	Ambiguous genitalia, Polycystic kidney dysplasia, Aplasia of the uterus	OMIM:619879
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus, Facial paralysis, Facial palsy	OMIM:259700
Multiple Sulfatase Deficiency	Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly	OMIM:272200
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst...	OMIM:619895
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Thanatophoric Dysplasia Type 1	Hydrocephalus, Ventriculomegaly	ORPHA:1860
Axenfeld-Rieger Syndrome, Type 2	Cryptorchidism, Hydrocephalus	OMIM:601499
Exstrophy-Epispadias Complex	Bifid scrotum, Renal insufficiency, Urinary incontinence, Bifid uterus, Epispadias, Cryptorchidis...	ORPHA:322
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
1Q44 Microdeletion Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:238769
Microphthalmia, Syndromic 9	Cryptorchidism, Multilobulated spleen, Renal hypoplasia, Horseshoe kidney, Hypoplasia of the uter...	OMIM:601186
Lateral Meningocele Syndrome	Cryptorchidism, Decreased muscle mass, Meningocele, Hydrocephalus	OMIM:130720
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Camptodactyly of finger, Spina bifida	ORPHA:2839
Icf Syndrome	Communicating hydrocephalus, Macroglossia	ORPHA:2268
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert...	ORPHA:90794
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly, Congenital diaphragmatic hernia	ORPHA:1335
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Ventriculomegaly, Hydrocephalus, Muscular dystrophy, Dandy-Walker malformation	OMIM:614643
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Cryptorchidism, Hydrocephalus, Ventriculomegaly	ORPHA:1812
Cushing Disease	Increased urinary cortisol level, Leukocytosis, Depression, Decreased eosinophil count, Emotional...	ORPHA:96253
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Tetrasomy 5P	Hydrocephalus, Aplasia/Hypoplasia of the abdominal wall musculature	ORPHA:3309
Mucopolysaccharidosis, Type Ii	Macroglossia, Hydrocephalus, Flexion contracture	OMIM:309900
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Facial palsy, Hydrocephalus, Holoprosencephaly, ...	ORPHA:2356
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:618476
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Ventriculomegaly, Cryptorchidism, Meningoencephalocele, Hydrocephalus, C...	OMIM:236670
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly, Congenital diaphragmatic hernia	OMIM:313850
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Rhombencephalosynapsis	Hydrocephalus, Ventriculomegaly	ORPHA:59315
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Tetrasomy 9P	Absent gallbladder, Cryptorchidism, Oligozoospermia, Infertility, Micropenis	ORPHA:3310
Mirage Syndrome	Cryptorchidism, Hydrocephalus, Hypergonadotropic hypogonadism, Decreased testicular size	OMIM:617053
H Syndrome	Hydrocephalus, Azoospermia, Hypogonadism, Camptodactyly, Decreased testicular size, Amenorrhea	ORPHA:168569
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal...	OMIM:615287
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus	OMIM:614886
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Pseudotrisomy 13 Syndrome	Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly	OMIM:264480
Mucopolysaccharidosis, Type Vii	Macroglossia, Hydrocephalus, Flexion contracture, Diastasis recti	OMIM:253220
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Occipital meningocele, Ventriculomegaly	OMIM:616546
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Cryptorchidism, Hydrocephalus, Embryonal rhabdomyosarcoma, Dandy-Walker malform...	OMIM:257300
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Scapular winging, Hydrocephalus	OMIM:616914
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Lateral ventricle dilatation	OMIM:612863
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hydrocephalus, Irregular menstruation	OMIM:616482
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus	ORPHA:2318
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Lower limb muscle weakness, Ventriculomegaly	ORPHA:395
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Joubert Syndrome With Renal Defect	Encephalocele, Hydrocephalus	ORPHA:220497
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus, Flexion contracture, Camptodactyly	OMIM:207410
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Spina bifida occulta, Hydrocephalus	OMIM:613686
Joubert Syndrome	Encephalocele, Hydrocephalus	ORPHA:475
X-Linked Intellectual Disability, Snyder Type	Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy	ORPHA:3063
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	OMIM:613001
Hurler Syndrome	Macroglossia, Hydrocephalus, Flexion contracture	OMIM:607014
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus	ORPHA:2969
Carnitine Palmitoyltransferase Ii Deficiency	Myopathy, Hydrocephalus, Rhabdomyolysis	ORPHA:157
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:3301
Joubert Syndrome With Ocular Defect	Encephalocele, Hydrocephalus	ORPHA:220493
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:1555
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocele testis, Hydrocephalus, Ventriculomegaly	OMIM:613603
Desmosterolosis	Arthrogryposis multiplex congenita, Hydrocephalus, Joint contracture of the hand, Ventriculomegaly	OMIM:602398
Viss Syndrome	Hypereosinophilia, Hydronephrosis, Dysphagia	OMIM:619472
Achondroplasia	Hydrocephalus	ORPHA:15
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus	ORPHA:974
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Endocrine-Cerebroosteodysplasia	Cryptorchidism, Hydrocephalus, Holoprosencephaly, Ventriculomegaly	OMIM:612651
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Acrodysostosis 1 With Or Without Hormone Resistance	Hypogonadism, Cryptorchidism, Hydrocephalus, Irregular menstruation	OMIM:101800
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Hypoplasia of the uterus	ORPHA:785
Congenital Sialidosis Type 2	Hydrocephalus	ORPHA:93400
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Left ventricular hypertrophy, Hydrocephalus, Elbow flexion contracture, Congenital diaphragmatic ...	OMIM:245600
Dural Sinus Malformation	Myelopathy, Hydrocephalus	ORPHA:97339
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Congenital fibrosis of extraocular muscles, Torticollis, Normal pressure hydrocephalus, Lateral v...	ORPHA:300570
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus	OMIM:314390
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus	OMIM:239300
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Vacterl With Hydrocephalus	Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Spina bifida	ORPHA:3412
Primary Sclerosing Cholangitis	Renal insufficiency, Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Depression...	ORPHA:171
Desmosterolosis	Hydrocephalus, Ventriculomegaly	ORPHA:35107
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus	OMIM:608091
Gracile Bone Dysplasia	Hydrocephalus	OMIM:602361
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Osteopetrosis, Autosomal Recessive 5	Hydrocephalus, Facial palsy, Ventriculomegaly, Limb hypertonia	OMIM:259720
Shprintzen-Goldberg Craniosynostosis Syndrome	Cryptorchidism, Hydrocephalus, Joint contracture of the hand, Camptodactyly	OMIM:182212
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Unilateral renal agenesis, Hypoplastic labia majora, Hypoplasia of the uterus, ...	OMIM:618419
Opitz-Kaveggia Syndrome	Multiple joint contractures, Cryptorchidism, Hydrocephalus, Camptodactyly, Joint contracture of t...	OMIM:305450
Linear Skin Defects With Multiple Congenital Anomalies 1	Colpocephaly, Hydrocephalus, Chordee, Congenital diaphragmatic hernia	OMIM:309801
Cousin Syndrome	Hydrocephalus, Camptodactyly, Hydranencephaly, Joint contracture of the hand, Wrist flexion contr...	OMIM:260660
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Anorexia, Leukocytosis, Depression, Prostate cancer, Decreased ...	ORPHA:99889
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus, Flexion contracture	OMIM:616007
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Camptodactyly, Ventriculomegaly	ORPHA:1272
Holoprosencephaly	Encephalocele, Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Spinal dysraphism,...	ORPHA:2162
Tropical Endomyocardial Fibrosis	Splenomegaly, Eosinophilia	ORPHA:75565
Cardiac-Urogenital Syndrome	Accessory spleen, Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Enlarged kidney, Apla...	OMIM:618280
Multiple Sulfatase Deficiency	Hydrocephalus	ORPHA:585
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus	OMIM:618590
Phocomelia, Schinzel Type	Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus	ORPHA:2879
Hurler Syndrome	Macroglossia, Hydrocephalus, Camptodactyly of finger	ORPHA:93473
Rabin-Pappas Syndrome	Hydrocephalus	OMIM:620155
Laurin-Sandrow Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:2378
15Q Overgrowth Syndrome	Dandy-Walker malformation, Contracture of the proximal interphalangeal joint of the 2nd finger, H...	ORPHA:314585
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:609441
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus, Elbow contracture, Knee flexion contracture	OMIM:618162
Apert Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:87
7Q11.23 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Ventriculomegaly, Congenital diaphragmatic hernia	ORPHA:96121
Monosomy 18Q	Bilateral cryptorchidism, Hydrocephalus	ORPHA:1600
Fetal Akinesia Deformation Sequence 1	Hip contracture, Decreased muscle mass, Elbow contracture, Camptodactyly of finger, Cryptorchidis...	OMIM:208150
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus	ORPHA:2720
Jacobsen Syndrome	Cryptorchidism, Hydrocephalus, Flexion contracture, Holoprosencephaly	OMIM:147791
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Alexander Disease	Aqueductal stenosis, Hydrocephalus, Facial palsy	ORPHA:58
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Bifid uterus	ORPHA:1521
Mucopolysaccharidosis Type 1	Abnormal tendon morphology, Hydrocephalus	ORPHA:579
Marden-Walker Syndrome	Skeletal muscle atrophy, Camptodactyly of finger, Hydrocephalus, Muscular dystrophy, Arthrogrypos...	ORPHA:2461
Woodhouse-Sakati Syndrome	Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ...	OMIM:241080
Stromme Syndrome	Myopathy, Hydrocephalus	OMIM:243605
Thakker-Donnai Syndrome	Communicating hydrocephalus, Congenital diaphragmatic hernia	ORPHA:1780
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Congenital diaphragmatic hernia	ORPHA:268249
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Arthrogryposis multiplex congenita	OMIM:619512
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:123790
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Camptodactyly of finger, Cryptorchidism, Aplasia/Hypoplasia of the a...	ORPHA:2462
Steinert Myotonic Dystrophy	Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g...	ORPHA:273
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules	ORPHA:25
Cardiofaciocutaneous Syndrome 1	Hydrocephalus	OMIM:115150
Cardiofaciocutaneous Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:1340
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hydrocephalus	ORPHA:1454
Otopalatodigital Syndrome Type 2	Encephalocele, Hydrocephalus, Myelomeningocele, Camptodactyly of finger	ORPHA:90652
Mucopolysaccharidosis, Type Vi	Macroglossia, Hydrocephalus, Flexion contracture, Cervical myelopathy	OMIM:253200
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Macroglossia, Hydrocephalus, Flexion contracture	ORPHA:505248
Monosomy 9Q22.3	Ventriculomegaly, Hydrocephalus, Rhabdomyosarcoma	ORPHA:77301
Apert Syndrome	Cryptorchidism, Hydrocephalus, Ventriculomegaly	OMIM:101200
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly	ORPHA:2166
1Q21.1 Microdeletion Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:250989
Short-Rib Thoracic Dysplasia 12	Hydrocephalus, Anencephaly, Holoprosencephaly	OMIM:269860
Mucopolysaccharidosis Type 3	Macroglossia, Hydrocephalus, Flexion contracture, Ventriculomegaly	ORPHA:581
Osteopathia Striata With Cranial Sclerosis	Facial palsy, Hydrocephalus, Joint contracture of the hand, Camptodactyly, Spina bifida occulta, ...	OMIM:300373
Cryptococcosis	Limb muscle weakness, Prostatitis, Hydrocephalus	ORPHA:1546
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal fear-induc...	ORPHA:353281
Woodhouse-Sakati Syndrome	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal spermatogenesi...	ORPHA:3464
Cerebrooculonasal Syndrome	Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:605627
Hypoplasminogenemia	Cervicitis, Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Hydrocephalus, Myopathy	OMIM:261740
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hydrocephalus, Ventriculomegaly	ORPHA:228308
Meningioma	Hypogonadotropic hypogonadism, Facial palsy, Hydrocephalus, Upper limb muscle weakness, Impotence...	ORPHA:2495
Kabuki Syndrome	Cryptorchidism, Hydrocephalus, Ventriculomegaly, Congenital diaphragmatic hernia	ORPHA:2322
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Bilateral cryptorchidism, Hydrocephalus, Flexion contracture, Myopathy, Hypogona...	ORPHA:3042
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me...	OMIM:610828
Limb Body Wall Complex	Encephalocele, Diastasis recti, Spina bifida, Congenital diaphragmatic hernia, Myelomeningocele, ...	ORPHA:2369
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Torticollis, Multiple joint contractures, Hydrocephalus	ORPHA:536467
Marshall-Smith Syndrome	Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Ventriculomegaly	OMIM:602535
Fanconi Anemia	Spina bifida, Cryptorchidism, Hydrocephalus, Azoospermia, Decreased fertility in males, Hypogonad...	ORPHA:84
Achondroplasia	Hydrocephalus	OMIM:100800
Dubowitz Syndrome	Cryptorchidism, Hydrocephalus, Spina bifida occulta	ORPHA:235
Craniopharyngioma	Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism	ORPHA:54595
Full Nf2-Related Schwannomatosis	Facial palsy, Myelopathy, Hydrocephalus, Wrist drop, Foot dorsiflexor weakness	ORPHA:637
Raine Syndrome	Arthrogryposis multiplex congenita, Hydrocephalus	OMIM:259775
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus, Abnormality of the musculature of the limbs	ORPHA:137667
Coffin-Siris Syndrome 1	Hydroureter, Hypospadias, Ectopic kidney, Aggressive behavior, Cryptorchidism, Renal hypoplasia, ...	OMIM:135900
Mohr Syndrome	Hydrocephalus	OMIM:252100
Distal 22Q11.2 Microduplication Syndrome	Camptodactyly of finger, Cryptorchidism, Hydrocephalus, Macroglossia, Camptodactyly of toe	ORPHA:261337
Osteootohepatoenteric Syndrome	Hydrocephalus	OMIM:619377
Mend Syndrome	Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Limb hypertonia	ORPHA:401973
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Camptodactyly of finger, Cry...	OMIM:249000
Dextrocardia	Hydrocephalus	ORPHA:1666
Trisomy 8P	Cryptorchidism, Hydrocephalus, Multiple joint contractures, Dandy-Walker malformation	ORPHA:264450
Blepharophimosis, Ptosis, And Epicanthus Inversus	Hypoplasia of the uterus	OMIM:110100
Medulloblastoma	Hydrocephalus	ORPHA:616
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus, Hypogonadotropic hypogonadism	ORPHA:91350
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus	OMIM:104350
Neurooculorenal Syndrome	Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Ventriculomegaly	OMIM:620305
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Spina bifida, Testicular neoplasm, Cryptorchidism, Hydrocephalus, Ventriculo...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Spina bifida, Testicular neoplasm, Cryptorchidism, Hydrocephalus, Ventriculo...	ORPHA:363958
Meckel Syndrome	Encephalocele, Cryptorchidism, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker ...	ORPHA:564
Fanconi Anemia, Complementation Group D2	Cryptorchidism, Hydrocephalus, Hypergonadotropic hypogonadism	OMIM:227646
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida, Rhabdomyosarcoma	OMIM:162200
Limb-Mammary Syndrome	Aplasia of the uterus, Aplasia of the ovary	ORPHA:69085
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Hydrocephalus, Congenital diaphragmatic hernia	OMIM:154400
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus	ORPHA:220295
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus	OMIM:277400
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Bifid uterus, Abnormal vagina morphology, Hydronephrosis	OMIM:236680
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Ventriculomegaly	OMIM:618188
Lenz-Majewski Hyperostotic Dwarfism	Cryptorchidism, Hydrocephalus, Hypogonadism, Facial palsy	ORPHA:2658
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Macroglossia, Facial hypotonia, Myopathy	ORPHA:309282
Okamoto Syndrome	Urinary incontinence, Bifid uterus, Splenomegaly, Unilateral renal hypoplasia, Ureteropelvic junc...	ORPHA:2729
Sturge-Weber Syndrome	Hydrocephalus	ORPHA:3205
Townes-Brocks Syndrome 1	Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias, Renal insufficie...	OMIM:107480
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida	OMIM:109400
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Pseudoaminopterin Syndrome	Posterolateral diaphragmatic hernia, Cryptorchidism, Hydrocephalus	ORPHA:221120
Wolf-Hirschhorn Syndrome	Accessory spleen, Hypospadias, Precocious puberty, Cryptorchidism, Aplasia of the uterus, Abnorma...	OMIM:194190
Mend Syndrome	Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	OMIM:300960
Isotretinoin-Like Syndrome	Hydrocephalus	ORPHA:2306
Ehlers-Danlos Syndrome, Vascular Type	Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse, Anemia	OMIM:130050
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:163979
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist...	OMIM:201750
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus, Hypoplasia of the ovary, Flexion contracture, Decreased testicular size	OMIM:619321
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrocephalus	ORPHA:79282
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal fear-induc...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal fear-induc...	ORPHA:353277
Cockayne Syndrome A	Hip contracture, Cryptorchidism, Irregular menstruation, Normal pressure hydrocephalus, Hypogonad...	OMIM:216400
Fraser Syndrome 3	Hydrocephalus	OMIM:617667
Noonan Syndrome 1	Male infertility, Cryptorchidism, Hypogonadism, Hypospadias	OMIM:163950
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Decreased CSF 5-methyltetrahydrofolate concentration, Torticollis, Hydrocephalus, Ventriculomegaly	OMIM:619475
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Shoulder flexion contracture, Cryptorchidism, Hydrocephalus, Flexion contracture...	OMIM:210710
Norrie Disease	Cryptorchidism, Self-injurious behavior, Irritability, Attention deficit hyperactivity disorder, ...	ORPHA:649
22Q11.2 Deletion Syndrome	Spina bifida, Cryptorchidism, Hydrocephalus, Meningocele, Occipital myelomeningocele	ORPHA:567
Alström Syndrome	Precocious puberty in females, Hypergonadotropic hypogonadism, Decreased response to growth hormo...	ORPHA:64
Hajdu-Cheney Syndrome	Cryptorchidism, Hydrocephalus	OMIM:102500
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Hypoglycorrhachia	ORPHA:168577
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus	OMIM:616084
Orofaciodigital Syndrome I	Myelomeningocele, Hydrocephalus	OMIM:311200
Cystinosis, Nephropathic	Male infertility, Diabetes mellitus, Primary hypothyroidism, Delayed puberty, Male hypogonadism	OMIM:219800
Cystic Fibrosis	Male infertility	OMIM:219700
Smith-Lemli-Opitz Syndrome	Cryptorchidism, Hydrocephalus, Colpocephaly, Holoprosencephaly, Dandy-Walker malformation	OMIM:270400
Costello Syndrome	Rhabdomyosarcoma, Achilles tendon contracture, Hydrocephalus, Macroglossia, Ventriculomegaly	OMIM:218040
Microphthalmia With Limb Anomalies	Cryptorchidism, Hydrocephalus, Camptodactyly of 2nd-5th fingers	ORPHA:1106
Holoprosencephaly 9	Cryptorchidism, Hydrocephalus, Holoprosencephaly	OMIM:610829
Campomelic Dysplasia	Contracture of the distal interphalangeal joint of the fingers, Hydrocephalus, Spina bifida, Spin...	OMIM:114290
Microphthalmia With Linear Skin Defects Syndrome	Hydrocephalus, Abnormal testis morphology, Congenital diaphragmatic hernia	ORPHA:2556
Hajdu-Cheney Syndrome	Hydrocephalus	ORPHA:955
Tetraamelia Syndrome 1	Hydrocephalus, Congenital diaphragmatic hernia	OMIM:273395
Dermatomyositis	Abnormal eosinophil morphology	ORPHA:221
Osteogenesis Imperfecta	Hydrocephalus, Flexion contracture, Noncommunicating hydrocephalus, Ventriculomegaly	ORPHA:666
Fontaine Progeroid Syndrome	Left ventricular hypertrophy, Cryptorchidism, Hypoplasia of the abdominal wall musculature, Hydro...	OMIM:612289
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Myelomeningocele, Hydrocephalus	OMIM:306955
Histiocytoid Cardiomyopathy	Hydrocephalus	ORPHA:137675
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Azoospermia, Hydrocephalus, Ventriculomegaly	ORPHA:2072
Gaucher Disease	Arthrogryposis multiplex congenita, Hydrocephalus, Ventriculomegaly	ORPHA:355
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Muscular dystrophy, Ventriculomegaly	OMIM:253280
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Aplasia of the right hemidiaphragm, Cryptorchidism, Mild fetal ventr...	OMIM:619841
Focal Dermal Hypoplasia	Diastasis recti, Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Myelomeningocele...	OMIM:305600
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Facial hypotonia, Ventriculomegaly	ORPHA:457359
Wiedemann-Rautenstrauch Syndrome	Cryptorchidism, Hydrocephalus, Flexion contracture, Generalized amyotrophy, Dandy-Walker malforma...	OMIM:264090
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Distal...	ORPHA:573278
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Ventriculomegaly	OMIM:617011
Fraser Syndrome 1	Encephalocele, Cryptorchidism, Myelomeningocele, Hydrocephalus	OMIM:219000
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus	OMIM:276820
Alobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Flexion contracture	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Neural tube defect, Hydrocephalus, Flexion contracture	ORPHA:93926
Lobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Flexion contracture	ORPHA:93924
Semilobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Flexion contracture	ORPHA:220386
Mucopolysaccharidosis Type 2	Macroglossia, Contractures of the large joints, Communicating hydrocephalus, Flexion contracture ...	ORPHA:580
Lymphangioleiomyomatosis	Hydrocephalus	ORPHA:538
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:572333
Wiedemann-Rautenstrauch Syndrome	Hypogonadotropic hypogonadism, Camptodactyly of finger, Cryptorchidism, Hydrocephalus, Skeletal m...	ORPHA:3455
Neu-Laxova Syndrome 1	Cryptorchidism, Bifid uterus	OMIM:256520
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Cockayne Syndrome B	Cryptorchidism, Normal pressure hydrocephalus	OMIM:133540
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation, Camptodactyly	OMIM:607872
Loeys-Dietz Syndrome 1	Hydrocephalus, Camptodactyly	OMIM:609192
Simpson-Golabi-Behmel Syndrome, Type 1	Facial hypotonia, Diastasis recti, Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus...	OMIM:312870
Neurofibromatosis Type 1	Cryptorchidism, Hydrocephalus	ORPHA:636
Yunis-Varon Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:3472
Autosomal Recessive Malignant Osteopetrosis	Hydrocephalus	ORPHA:667
Peters Plus Syndrome	Cryptorchidism, Hydrocephalus, Spina bifida occulta, Ventriculomegaly	ORPHA:709
Kabuki Syndrome 1	Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation	OMIM:147920
Peters-Plus Syndrome	Cryptorchidism, Hydrocephalus, Diastasis recti, Ventriculomegaly	OMIM:261540
Baller-Gerold Syndrome	Hydrocephalus, Spina bifida occulta	OMIM:218600
Loeys-Dietz Syndrome 2	Hydrocephalus, Joint contracture of the hand, Camptodactyly	OMIM:610168
Otopalatodigital Syndrome, Type Ii	Cryptorchidism, Hydrocephalus, Elbow contracture, Spina bifida	OMIM:304120
Vascular Ehlers-Danlos Syndrome	Hypospadias, Cryptorchidism, Cystocele, Renovascular hypertension, Bladder diverticulum, Uterine ...	ORPHA:286
Coffin-Siris Syndrome 12	Noncommunicating hydrocephalus, Cryptorchidism, Facial palsy	OMIM:619325
Tuberous Sclerosis Complex	Noncommunicating hydrocephalus, Subependymal nodules	ORPHA:805
Roberts-Sc Phocomelia Syndrome	Ankle flexion contracture, Cryptorchidism, Hydrocephalus, Frontal encephalocele, Elbow flexion co...	OMIM:268300
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus	ORPHA:363700
Pallister-Killian Syndrome	Small scrotum, Hypospadias, Cryptorchidism, Renal cyst, Hypoplastic labia majora, Aplasia of the ...	OMIM:601803
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aqueductal stenosis, Hydrocephalus, Lateral ventricle dilatation	OMIM:619534
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus, Facial paralysis	OMIM:175780
Craniofacial Microsomia 1	Occipital encephalocele, Hydrocephalus, Hypoplasia of facial musculature	OMIM:164210

Histopathology

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

Phenotype	Allele	Zygosity	Sex	Life Stage
Testis - MPATH pathological process term atrophy	Adgb^em1(IMPC)Mbp	HOM		Early adult
Brain - MPATH pathological entity term hydrocephalus	Adgb^em1(IMPC)Mbp	HOM		Early adult

IMPC related publications

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

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Androglobin, a chimeric mammalian globin, is required for male fertility.	eLife (June 2022)	Adgb^{tm1c(KOMP)Wtsi} Adgb^{tm1a(KOMP)Wtsi} Adgb^{tm1d(KOMP)Wtsi} Adgb^{tm1b(KOMP)Wtsi}	PMC9249397

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Adgb^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Adgb^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Adgb^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

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

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Adgb MGI:3605549

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

MicroCT E18.5

Histopathology

X-ray

Human diseases caused by Adgb mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data