Gene: Cfap70 MGI:1923920

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

cilia and flagella associated protein 70

Synonyms:

Ttc18, 5330402L21Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Cfap70 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 Cfap70 (1 diseases)
Human diseases predicted to be associated with Cfap70 (653 diseases)

The table below shows human diseases associated to Cfap70 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Spermatogenic Failure 41		Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670

The table below shows human diseases predicted to be associated to Cfap70 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl...	OMIM:619585
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Spermatogenic Failure 79	Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia	OMIM:620196
Spermatogenic Failure 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs...	OMIM:620084
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Spermatogenic Failure 41	Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe...	OMIM:619696
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:612997
Spermatogenic Failure 51	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea...	OMIM:619177
Spermatogenic Failure 63	Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia	OMIM:619689
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 1	Cryptozoospermia, Male infertility, Oligozoospermia	OMIM:258150
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:619828
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Spermatogenic Failure 24	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile...	OMIM:617959
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation...	OMIM:617960
Partial Chromosome Y Deletion	Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph...	OMIM:301101
Spermatogenic Failure 30	Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility	OMIM:618110
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Spermatogenic Failure 87	Ruffled acrosome, Male infertility	OMIM:620500
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Spermatogenic Failure 8	Cryptozoospermia, Azoospermia, Oligozoospermia	OMIM:613957
Spermatogenic Failure 38	Abnormal axonemal organization of respiratory motile cilia, Tapered sperm head, Abnormal sperm he...	OMIM:618433
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Spermatogenic Failure 32	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:619831
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi...	OMIM:619528
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility	OMIM:619145
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Spermatogenic Failure 44	Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm...	OMIM:620356
Spermatogenic Failure 12	Infertility, Azoospermia, Abnormal male germ cell morphology	OMIM:615413
Isochromosomy Yp	Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility	ORPHA:98797
Spermatogenic Failure 17	Male infertility	OMIM:617214
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo...	OMIM:620438
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Isochromosomy Yq	Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen...	ORPHA:98798
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Deleted in azoospermia	Azoospermia	OMIM:400003
Spermatogenic Failure 77	Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Male infertility	OMIM:620103
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis...	ORPHA:399808
Spermatogenic Failure 2	Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia	OMIM:108420
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Spermatogenic Failure 75	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619949
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn...	ORPHA:399805
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility	ORPHA:48
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility	ORPHA:3000
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Spermatogenic Failure 15	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:616950
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Ciliary Dyskinesia, Primary, 41	Infertility, Immotile sperm	OMIM:618449
Morbid Obesity And Spermatogenic Failure	Infertility, Azoospermia, Oligozoospermia	OMIM:615703
Young Syndrome	Azoospermia	OMIM:279000
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Hydrocephalus, Congenital, 1	Ventriculomegaly, Hydrocephalus	OMIM:236600
Beemer Lethal Malformation Syndrome	Ambiguous genitalia, Hydrocephalus	OMIM:209970
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Absent vas deferens, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Absent vas deferens, Male infertility	OMIM:277180
Isolated Follicle Stimulating Hormone Deficiency	Male hypogonadism, Decreased testicular size, Delayed menarche, Azoospermia, Decreased female lib...	ORPHA:52901
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Ventriculomegaly, Hydrocephalus, Polymicrogyria	OMIM:615938
Spermatogenic Failure 28	Decreased testicular size, Non-obstructive azoospermia, Male infertility	OMIM:618086
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Ventriculomegaly, Hydrocephalus, Polymicrogyria	OMIM:615937
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:620197
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Spermatogenic Failure 14	Azoospermia, Male infertility, Round spermatid arrest	OMIM:615842
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism	ORPHA:2183
Spermatogenic Failure 13	Azoospermia, Male infertility	OMIM:615841
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Spermatogenic Failure, X-Linked, 4	Azoospermia, Male infertility	OMIM:301077
Ciliary Dyskinesia, Primary, 46	Reduced sperm motility	OMIM:619436
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormality of neuronal migration, Ventriculomegaly, Hydrocephalus	OMIM:618709
Chudley-Mccullough Syndrome	Gray matter heterotopia, Ventriculomegaly, Hydrocephalus, Polymicrogyria	OMIM:604213
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Hypogonadism, Decreased testicular size, Azoospermia, Primary amenorrhea, Infertility	OMIM:229070
Pineocytoma	Increased CSF protein concentration, Hydrocephalus	ORPHA:251912
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus	ORPHA:141333
Autosomal Recessive Spastic Paraplegia Type 46	Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm motility, A...	ORPHA:320391
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Ciliary Dyskinesia, Primary, 34	Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti...	OMIM:617091
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Premature Ovarian Failure 10	Decreased testicular size, Azoospermia, Hypoplasia of the ovary, Primary amenorrhea, Premature ov...	OMIM:612885
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligozoospermia	OMIM:314300
Omphalocele-Cleft Palate Syndrome, Lethal	Bicornuate uterus, Hydrocephalus	OMIM:258320
47,Xyy Syndrome	Varicocele, Azoospermia, Cryptorchidism, Hydrocephalus, Oligozoospermia, Micropenis, Macroorchidi...	ORPHA:8
Androgen Insensitivity, Partial	Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi...	OMIM:312300
Ciliary Dyskinesia, Primary, 45	Male infertility, Absent inner and outer dynein arms	OMIM:618801
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
1Q21.1 Microduplication Syndrome	Hypospadias, Hydrocephalus, Cryptorchidism	ORPHA:250994
Leukoencephalopathy With Dystonia And Motor Neuropathy	Azoospermia, Hypergonadotropic hypogonadism	OMIM:613724
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Hemochromatosis, Type 2A	Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea	OMIM:602390
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Ciliary Dyskinesia, Primary, 12	Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce...	OMIM:612650
Adrenal Hypoplasia, Congenital	Precocious puberty, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Oligozoospermia	OMIM:300200
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus	ORPHA:2578
Band Heterotopia	Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Hydrocephalus, Gray matter hetero...	OMIM:600348
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus	OMIM:166990
Functioning Gonadotropic Adenoma	Abnormality of the menstrual cycle, Decreased female libido, Ovarian cyst, Enlarged polycystic ov...	ORPHA:91348
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Ciliary Dyskinesia, Primary, 18	Absent inner dynein arms, Immotile sperm, Absent outer dynein arms, Male infertility	OMIM:614874
Ciliary Dyskinesia, Primary, 14	Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a...	OMIM:613807
Ciliary Dyskinesia, Primary, 26	Infertility, Absent outer dynein arms, Reduced sperm motility	OMIM:615500
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hypogonadism, Hydrocephalus, Cryptorchidism	OMIM:601794
Ciliary Dyskinesia, Primary, 11	Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility	OMIM:612649
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Spondylometaphyseal Dysplasia, Axial	Reduced sperm motility	OMIM:602271
Distal 7Q11.23 Microduplication Syndrome	Frontal encephalocele, Hydrocephalus, Cryptorchidism	ORPHA:261102
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Type II lissencephaly, Ventriculomegaly, Hydrocephalus	OMIM:614830
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Diencephalic Syndrome	Long penis, Hydrocephalus	ORPHA:1672
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am...	OMIM:614837
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Type II lissencephaly, Dysgyria, Hydrocephalus, Gray matter heterotopia	ORPHA:352682
Ciliary Dyskinesia, Primary, 40	Infertility, Azoospermia, Absent outer dynein arms	OMIM:618300
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Ciliary Dyskinesia With Defective Radial Spokes	Immotile sperm, Absent respiratory ciliary axoneme radial spokes	OMIM:242670
Congenital Hydrocephalus	Ventriculomegaly, Abnormal cortical gyration, Colpocephaly, Hydrocephalus, Lissencephaly	ORPHA:2185
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Primary amenorrhea, Micropenis	OMIM:614897
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus, Simplified gyral pattern	OMIM:619470
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Hydrocephalus	OMIM:300886
Masa Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:303350
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h...	OMIM:228300
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Holoprosencephaly 5	Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph...	OMIM:609637
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Type II lissencephaly, Ventriculomegaly, Occipital encephalocele, Hydrocephalus	ORPHA:324416
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Reduced sperm motility	OMIM:615434
Ciliary Dyskinesia, Primary, 15	Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Infertility	OMIM:613808
Pontocerebellar Hypoplasia, Type 14	Hydrocephalus, Simplified gyral pattern	OMIM:619301
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation	OMIM:617967
Developmental And Epileptic Encephalopathy 36	Hydrocephalus	OMIM:300884
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ventriculomegaly, Hypoplastic female external genitalia, Hydrocephalus, Cryptorchidism	OMIM:618577
Acalvaria	Abnormality of neuronal migration, Holoprosencephaly, Hydrocephalus, Spina bifida	ORPHA:945
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Lead Poisoning	Decreased male libido, Abnormality of the menstrual cycle, Decreased female libido, Abnormal sper...	ORPHA:330015
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Simplified gyral pattern	OMIM:619302
Pituitary Dermoid And Epidermoid Cysts	Hypogonadism, Amenorrhea, Oligomenorrhea, Oligozoospermia	ORPHA:91351
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Male sexual dysfunction, Bifid scrotum, Bilateral cryptorchidism, Azoosperm...	ORPHA:90797
Ciliary Dyskinesia, Primary, 9	Absent outer dynein arms, Male infertility	OMIM:612444
Ciliary Dyskinesia, Primary, 22	Infertility, Reduced sperm motility, Absent inner and outer dynein arms	OMIM:615444
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Lissencephaly 5	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Subcortic...	OMIM:615191
Fried Syndrome	Hydrocephalus	ORPHA:85335
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Radial Aplasia, X-Linked	Penile hypospadias, Hydrocephalus	OMIM:312190
46,Xx Sex Reversal 2	Small scrotum, Perineal hypospadias, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, Tru...	OMIM:278850
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601076
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Lissencephaly, Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Pachygyria, Agyria, Dandy-...	OMIM:613153
46,Xx Sex Reversal 1	Clitoral hypertrophy, Azoospermia, True hermaphroditism, Ovotestis, Bicornuate uterus, Hypospadia...	OMIM:400045
Myotonic Dystrophy 2	Hypogonadism, Oligozoospermia	OMIM:602668
Craniotelencephalic Dysplasia	Frontal encephalocele, Hydrocephalus, Lissencephaly	ORPHA:1528
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Female pseudohermaphroditism, Ambiguous genitalia, Oligomenorrhea, Oligozoosp...	ORPHA:786
Primary Ciliary Dyskinesia	Ventriculomegaly, Abnormal sperm motility, Female infertility, Hydrocephalus, Male infertility	ORPHA:244
Optic Pathway Glioma	Precocious puberty, Hydrocephalus	ORPHA:2086
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Reduced progressive sperm motility	OMIM:619608
Temple Syndrome	Precocious puberty, Hydrocephalus, Cryptorchidism	ORPHA:254516
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Polymicrogyria	ORPHA:83473
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Pachygyria, Hydrocephalus	OMIM:618174
Alexander Disease	Increased CSF protein concentration, Hydrocephalus	OMIM:203450
Craniofacial Dyssynostosis With Short Stature	Ventriculomegaly, Hypospadias, Hydrocephalus, Cryptorchidism	OMIM:218350
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Azoospermia	OMIM:615234
Ciliary Dyskinesia, Primary, 5	Reduced sperm motility	OMIM:608647
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Hydrocephalus, Polymicrogyria	OMIM:602501
Papillary Tumor Of The Pineal Region	Increased CSF protein concentration, Hydrocephalus	ORPHA:251915
Aicardi-Goutieres Syndrome 4	CSF lymphocytic pleiocytosis, Ventriculomegaly, Hydrocephalus	OMIM:610333
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Cryptorch...	ORPHA:432
Corpus Callosum, Partial Agenesis Of, X-Linked	Ventriculomegaly, Hydrocephalus	OMIM:304100
Congenital Muscular Dystrophy, Fukuyama Type	Type II lissencephaly, Ventriculomegaly, Hydrocephalus	ORPHA:272
Ciliary Dyskinesia, Primary, 19	Male infertility, Absent inner and outer dynein arms	OMIM:614935
Bresek Syndrome	Decreased testicular size, Hydrocephalus, Cryptorchidism, Neonatal death	ORPHA:85284
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Micropenis, Hypospadias, Hydrocephalus, Cryptorchidism	ORPHA:171839
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus, Cryptorchidism	ORPHA:2701
2,4-Dienoyl-Coa Reductase Deficiency	Ventriculomegaly, Increased CSF lactate, Increased CSF lysine concentration, Colpocephaly, Hydroc...	OMIM:616034
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonad...	OMIM:308700
Hereditary Amyloidosis With Primary Renal Involvement	Hypogonadism, Oligozoospermia, Abnormal testis morphology, Primary testicular failure, Male infer...	ORPHA:85450
Hydrolethalus Syndrome 2	Ventriculomegaly, Anencephaly, Hydrocephalus	OMIM:614120
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Abnormal vagina morphology, Abnormal labia morphology, Abnormal scrotum mor...	ORPHA:251510
Pallister-Hall-Like Syndrome	Micropenis, Occipital encephalocele, Hydrocephalus	OMIM:241800
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility	ORPHA:2239
Congenital Toxoplasmosis	Ventriculomegaly, Hydrocephalus	ORPHA:858
Hemochromatosis, Type 1	Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence	OMIM:235200
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Williams-Beuren Region Duplication Syndrome	Ventriculomegaly, Hydrocephalus, Cryptorchidism	OMIM:609757
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Hydrocephalus	OMIM:248000
Temple Syndrome	Precocious puberty, Decreased testicular size, Hydrocephalus, Cryptorchidism	OMIM:616222
Gapo Syndrome	Hypogonadism, Amenorrhea, Oligozoospermia, Dysmenorrhea	ORPHA:2067
Greig Cephalopolysyndactyly Syndrome	Ventriculomegaly, Hypospadias, Hydrocephalus, Cryptorchidism	OMIM:175700
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Ambiguous genitalia, Cryptorchidism	ORPHA:1237
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Type II lissencephaly, Hydrocephalus, Polymicrogyria	OMIM:615181
Complete Androgen Insensitivity Syndrome	Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus...	ORPHA:99429
Thanatophoric Dysplasia Type 2	Ventriculomegaly, Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Holoprosencephaly	ORPHA:93274
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Classic Galactosemia	Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Premature ova...	ORPHA:79239
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Triploidy	Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Meningocele, Hypoplasia of penis, Holoprosenc...	ORPHA:3376
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Walker-Warburg Syndrome	Lissencephaly, Ventriculomegaly, Abnormal cortical gyration, Polymicrogyria, Cryptorchidism, Abno...	ORPHA:899
Fanconi Anemia, Complementation Group B	Ventriculomegaly, Hypogonadism, Hydrocephalus, Micropenis, Hypergonadotropic hypogonadism	OMIM:300514
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Absent outer dynein arms, Male infertility	OMIM:244400
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
Diabetic Embryopathy	Spinal dysraphism, Abnormal morphology of female internal genitalia, Cryptorchidism, Hydrocephalu...	ORPHA:1926
Nasu-Hakola Disease	Ventriculomegaly, Hydrocephalus	ORPHA:2770
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus	ORPHA:380
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Stillbirth	OMIM:276950
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Polymicrogyria, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	ORPHA:1647
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Holoprosencephaly, Hydrocephalus	ORPHA:2182
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus	OMIM:613155
Myopathy, Centronuclear, X-Linked	Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hypospadias	ORPHA:77298
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Lissencephaly, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	OMIM:612938
Alkuraya-Kucinskas Syndrome	Lissencephaly, Small scrotum, Ventriculomegaly, Hydrocephalus, Micropenis, Gray matter heterotopi...	OMIM:617822
Congenital Muscular Dystrophy With Cerebellar Involvement	Ventriculomegaly, Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Dilated fourth ...	ORPHA:370959
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	ORPHA:163961
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida, Gray matter heterotopia	OMIM:207950
Thanatophoric Dysplasia	Gray matter heterotopia, Ventriculomegaly, Hydrocephalus	ORPHA:2655
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Ritscher-Schinzel Syndrome 1	Hypospadias, Hydrocephalus, Dandy-Walker malformation	OMIM:220210
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Ventriculomegaly, Dilated third ventricle, Hypogonadism, Cryptorchidism, Hydrocephalus, Micropenis	ORPHA:500055
Edinburgh Malformation Syndrome	Abnormality of neuronal migration, Hydrocephalus	ORPHA:1895
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Ventriculomegaly, Colpocephaly, Hydrocephalus, Gray matter heterotopia, Communicating hydrocephal...	OMIM:615219
Genitopalatocardiac Syndrome	Cryptorchidism, Male pseudohermaphroditism, Gonadal dysgenesis, male, Hydrocephalus, Hypospadias	ORPHA:2075
Hydrolethalus	Abnormal fallopian tube morphology, Hydrocephalus, Cryptorchidism, Anencephaly	ORPHA:2189
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Ventriculomegaly, Polymicrogyria, Hydrocephalus, Dandy-Walker malformation	OMIM:225790
Infantile Sialic Acid Storage Disease	Hydrocephalus	OMIM:269920
Hec Syndrome	Communicating hydrocephalus, Vaginal hydrocele	ORPHA:2119
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation, Polymicrogyria	OMIM:614219
H Syndrome	Hypogonadism, Decreased testicular size, Azoospermia, Amenorrhea, Hydrocephalus, Micropenis	ORPHA:168569
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus	OMIM:307000
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Clitoral hypoplasia, Oligozoospermia	OMIM:614813
Emanuel Syndrome	Ventriculomegaly, Hypogonadism, Cryptorchidism, Hydrocephalus, Micropenis, Infertility, Dandy-Wal...	ORPHA:96170
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Pachygyria, Ventriculomegaly, Hydrocephalus, Polymicrogyria	OMIM:603387
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Trisomy 1Q	Small scrotum, Ventriculomegaly, Cryptorchidism, Ambiguous genitalia, Hydrocephalus	ORPHA:261344
Absent Radius-Anogenital Anomalies Syndrome	Rectovaginal fistula, Hydrocephalus, Perineal fistula	ORPHA:3016
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Clitoral hypertrophy, Abnormal labia majora morphology, Decreased testicular size, Ambiguous geni...	ORPHA:90791
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Rhombencephalosynapsis	Ventriculomegaly, Hydrocephalus, Abnormality of the uterus	ORPHA:59315
Krabbe Disease	Increased CSF protein concentration, Hydrocephalus	OMIM:245200
Pontocerebellar Hypoplasia, Type 7	Ventriculomegaly, Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Micropenis	OMIM:614969
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal male external genitalia morphology, Abnormal ovarian morphology, Increased size of the c...	ORPHA:95699
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Irregular menstruation, Neonatal death, Hydrocephalus, Uterine leiomyoma	OMIM:616482
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Mirage Syndrome	Microphallus, Decreased testicular size, Cryptorchidism, Hydrocephalus, Shawl scrotum, Hypospadia...	OMIM:617053
Coach Syndrome 2	Hydrocephalus	OMIM:619111
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
3C Syndrome	Ventriculomegaly, Abnormality of neuronal migration, Hydrocephalus, Hypoplasia of penis, Hypospad...	ORPHA:7
Desmosterolosis	Ventriculomegaly, Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, ...	ORPHA:35107
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus	ORPHA:1914
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Ventriculomegaly, Colpocephaly, Hydrocephalus, Polymicrogyria	OMIM:620156
Axenfeld-Rieger Syndrome, Type 2	Hypospadias, Hydrocephalus, Cryptorchidism	OMIM:601499
Houge-Janssens Syndrome 2	Ventriculomegaly, Hydrocephalus	OMIM:616362
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Irregular menstruation, Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilatera...	ORPHA:90793
Houge-Janssens Syndrome 1	Ventriculomegaly, Hydrocephalus	OMIM:616355
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hypogonadism, Azoospermia	ORPHA:300298
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormality of the male genitalia, Hydrocephalus	OMIM:614886
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Ventriculomegaly, Colpocephaly, Periventricular heterotopia, Hydrocephalus	OMIM:619833
Hypoplasminogenemia	Abnormality of the ovary, Abnormal fallopian tube morphology, Hydrocephalus, Dandy-Walker malform...	ORPHA:722
Lhermitte-Duclos Disease	Ovarian neoplasm, Hydrocephalus, Polymicrogyria	ORPHA:65285
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Lissencephaly, Ventriculomegaly, Polymicrogyria, Type II lissencephaly, Encephalocele, Hydrocepha...	OMIM:614643
Bloom Syndrome	Premature ovarian insufficiency, Azoospermia, Oligozoospermia, Male infertility	ORPHA:125
Emanuel Syndrome	Ventriculomegaly, Cryptorchidism, Hydrocephalus, Micropenis, Dandy-Walker malformation	OMIM:609029
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Ventriculomegaly, Hydrocephalus	OMIM:109120
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus, Hydrocephalus	ORPHA:2736
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventriculomegaly, Hydrocephalus	OMIM:615630
Endocrine-Cerebroosteodysplasia	Small scrotum, Ventriculomegaly, Microphallus, Focal polymicrogyria, Cryptorchidism, Ambiguous ge...	OMIM:612651
Whipple Disease	Erectile dysfunction, Hydrocephalus	ORPHA:3452
Gracile Bone Dysplasia	Micropenis, Hydrocephalus	OMIM:602361
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Type II lissencephaly, Agyria, Hydrocephalus, Lissencephaly	OMIM:615249
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Hydrocephalus, Polymicrogyria	ORPHA:60040
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Encephalocele, Hydrocephalus, Meningocele, Holoprosencephaly, Anencephaly	ORPHA:1908
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Ventriculomegaly, Hydrocephalus	OMIM:219730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Type II lissencephaly, H...	OMIM:613154
Aromatase Deficiency	Female infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, En...	ORPHA:91
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Ventriculomegaly, Hydrocephalus, Cryptorchidism	ORPHA:1812
Pseudotrisomy 13 Syndrome	Polymicrogyria, Cryptorchidism, Encephalocele, Hydrocephalus, Micropenis, Holoprosencephaly, Bico...	OMIM:264480
Meckel Syndrome, Type 6	Anencephaly, Occipital encephalocele, Hydrocephalus, Abnormal internal genitalia	OMIM:612284
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Ovotestis, Colpocephaly, Chordee, Hydrocephalus, Micropenis, Hypoplasia of ...	OMIM:309801
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Micropenis, Hydrocephalus, Cryptorchidism	OMIM:619951
Thanatophoric Dysplasia, Type I	Gray matter heterotopia, Hydrocephalus, Neonatal death	OMIM:187600
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Fraser Syndrome 3	Small scrotum, Hypoplasia of penis, Hydrocephalus, Stillbirth	OMIM:617667
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ...	ORPHA:1772
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation	OMIM:611134
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Ventriculomegaly, Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Cryptorchidism,...	OMIM:236670
Pelvis-Shoulder Dysplasia	Hydranencephaly, Ambiguous genitalia, Hydrocephalus, Spina bifida	ORPHA:2839
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Congenital Disorder Of Glycosylation, Type Iil	Abnormal cortical gyration, Ventriculomegaly, Hydrocephalus	OMIM:614576
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Ventriculomegaly, Agyria, Hydrocephalus, Polymicrogyria	OMIM:616538
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Abnormal morphology of female internal genitalia	ORPHA:1834
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus, Polycystic ovaries	ORPHA:2969
Coccidioidomycosis	Increased CSF protein concentration, Abnormality of the male genitalia, Hypoglycorrhachia, Abnorm...	ORPHA:228123
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus	OMIM:614195
Trisomy 17P	Hypoplasia of penis, Hydrocephalus	ORPHA:261290
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Vaginal atresia, Hypoplastic labia majora, Fused labia minora, Hydrocephalus	OMIM:207410
Lowry-Maclean Syndrome	Hypospadias, Hydrocephalus, Bilateral cryptorchidism	ORPHA:2409
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Bifid scrotum, Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Micropenis, ...	OMIM:257300
Distal Triplication 15Q	Abnormal external genitalia, Hydrocele testis, Hydrocephalus, Dandy-Walker malformation	ORPHA:314588
Arachnoiditis	Hydrocephalus	ORPHA:137817
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Ventriculomegaly, Polymicrogyria, Occipital meningocele, Hydrocephalus, Micropenis, Anencephaly	OMIM:616546
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Periventricular heterotopia, Hydrocephalus, Gray matt...	OMIM:619895
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Bifid scrotum, Prominent scrotal raphe, Hydrocephalus, Cryptorchidism	ORPHA:1555
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Ventriculomegaly, Hydrocephalus	ORPHA:1860
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Ventriculomegaly, Occipital encephalocele, Type II lissencephaly, Decreased testicular size, Anen...	OMIM:615287
Tetraamelia-Multiple Malformations Syndrome	Vaginal atresia, Hydrocephalus, Cryptorchidism	ORPHA:3301
Crouzon Syndrome	Hydrocephalus, Dysgerminoma	OMIM:123500
Desmosterolosis	Ambiguous genitalia, male, Ambiguous genitalia, female, Ventriculomegaly, Hydrocephalus	OMIM:602398
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Hypoplastic male external genitalia, Hydrocephalus	OMIM:608091
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Polymicrogyria, Type II lissencephaly, Encephalocele, Hydrocephalus, Pachygyria, Holoprosencephal...	OMIM:253800
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus, Cryptorchidism	ORPHA:1865
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	OMIM:613001
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus	OMIM:620157
Methylcobalamin Deficiency Type Cble	Ventriculomegaly, Hydrocephalus	ORPHA:2169
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Periventricular heterotopia, Hydrocephalus, Dandy-Walker malformation	OMIM:618476
Dextrocardia	Abnormal reproductive system morphology, Hydrocephalus	ORPHA:1666
Pettigrew Syndrome	Aqueductal stenosis, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:304340
Beare-Stevenson Cutis Gyrata Syndrome	Ventriculomegaly, Bifid scrotum, Prominent scrotal raphe, Hypoplastic labia majora, Hydrocephalus...	OMIM:123790
Fg Syndrome Type 1	Ventriculomegaly, Hypospadias, Hydrocephalus, Cryptorchidism	ORPHA:93932
Acrodysostosis 1 With Or Without Hormone Resistance	Irregular menstruation, Hydrocephalus, Cryptorchidism, Hypogonadism	OMIM:101800
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Ventriculomegaly, Hydrocele testis, Hydrocephalus	OMIM:613603
Pentalogy Of Cantrell	Encephalocele, Hypospadias, Hydrocephalus, Anencephaly	ORPHA:1335
Joubert Syndrome	Abnormality of neuronal migration, Encephalocele, Hydrocephalus, Polymicrogyria	ORPHA:475
Multiple Sulfatase Deficiency	Increased CSF protein concentration, Ventriculomegaly, Hydrocephalus	OMIM:272200
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Pituitary Deficiency Due To Rathke Cleft Cysts	Hypogonadotropic hypogonadism, Hydrocephalus	ORPHA:91350
Tetrasomy 9P	Lissencephaly, Polymicrogyria, Pachygyria, Cryptorchidism, Hydrocephalus, Oligozoospermia, Microp...	ORPHA:3310
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Plasminogen Deficiency, Type I	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:217090
Griscelli Syndrome	Encephalocele, Hydrocephalus	ORPHA:381
1Q44 Microdeletion Syndrome	Ventriculomegaly, Hydrocephalus	ORPHA:238769
Thoracoabdominal Syndrome	Hypospadias, Hydrocephalus, Anencephaly	OMIM:313850
Laurin-Sandrow Syndrome	Hydrocephalus, Cryptorchidism	ORPHA:2378
Vacterl With Hydrocephalus	Cryptorchidism, Abnormal fallopian tube morphology, Spina bifida, Hydrocephalus, Aqueductal stenosis	ORPHA:3412
Joubert Syndrome With Oculorenal Defect	Abnormality of neuronal migration, Encephalocele, Hydrocephalus	ORPHA:2318
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Dandy-Walker malformation, Meningocele	OMIM:614424
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Holoprosencephaly-Postaxial Polydactyly Syndrome	Cryptorchidism, Encephalocele, Ambiguous genitalia, Hydrocephalus, Hypoplasia of penis, Holoprose...	ORPHA:2166
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Ventriculomegaly, Choroid plexus cyst, Hydrocephalus	OMIM:617866
Joubert Syndrome With Renal Defect	Encephalocele, Hydrocephalus, Polymicrogyria	ORPHA:220497
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Carney Complex	Precocious puberty, Leydig cell neoplasia, Abnormal sperm motility, Sertoli cell neoplasm, Abnorm...	ORPHA:1359
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Dandy-Walker malformation	OMIM:612582
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus, Neonatal death	OMIM:314390
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Gorlin Syndrome	Hypogonadotropic hypogonadism, Ovarian fibroma, Hydrocephalus, Cryptorchidism	ORPHA:377
Lateral Meningocele Syndrome	Meningocele, Hydrocephalus, Cryptorchidism	OMIM:130720
Acquired Aneurysmal Subarachnoid Hemorrhage	Increased CSF lactate, Hydrocephalus, Hyperglycorrhachia	ORPHA:90065
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Ventriculomegaly, Type II lissencephaly, Encephalocele, Hydrocephalus, Pachygyria	OMIM:613150
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida	ORPHA:2437
Intellectual Developmental Disorder, Autosomal Dominant 65	Noncommunicating hydrocephalus	OMIM:619320
Craniopharyngioma	Hypogonadism, Hypogonadotropic hypogonadism, Hydrocephalus	ORPHA:54595
Fanconi Anemia	Ventriculomegaly, Abnormality of the uterus, Hypogonadism, Azoospermia, Cryptorchidism, Hydroceph...	ORPHA:84
Cerebrooculonasal Syndrome	Ventriculomegaly, Encephalocele, Hydrocephalus, Hypoplastic male external genitalia, Dandy-Walker...	OMIM:605627
Autosomal Dominant Polycystic Kidney Disease	Reduced sperm motility	ORPHA:730
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Apert Syndrome	Ventriculomegaly, Ovarian neoplasm, Hydrocephalus	ORPHA:87
Tenorio Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:616260
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Exstrophy-Epispadias Complex	Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Cys...	ORPHA:322
Chromosome 17P13.1 Deletion Syndrome	Hydrocele testis, Hydrocephalus, Spina bifida	OMIM:613776
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:459061
Joubert Syndrome With Ocular Defect	Encephalocele, Hydrocephalus, Polymicrogyria	ORPHA:220493
Peho Syndrome	Ventriculomegaly, Hydrocephalus	ORPHA:2836
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Short-Rib Thoracic Dysplasia 12	Neonatal death, Ambiguous genitalia, Hydrocephalus, Holoprosencephaly, Anencephaly	OMIM:269860
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus	OMIM:612940
Cousin Syndrome	Ambiguous genitalia, male, Ambiguous genitalia, female, Hydranencephaly, Hydrocephalus	OMIM:260660
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus	OMIM:259710
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Lateral ventricle dilatation	OMIM:612863
Oeis Complex	Myelomeningocele, Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitali...	OMIM:258040
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Ventriculomegaly, Hydrocephalus, Aplasia of the vagina	ORPHA:457284
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Spina bifida occulta, Hydrocephalus	OMIM:613686
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus, Neonatal death	OMIM:620351
Cryptococcosis	Prostatitis, Hydrocephalus	ORPHA:1546
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Ventriculomegaly, Polymicrogyria, Abnormality of neuronal migration, Hydrocephalus, Pachygyria	ORPHA:228308
Jacobsen Syndrome	Cryptorchidism, Labial hypoplasia, Hydrocephalus, Holoprosencephaly, Hypospadias, Clitoral hypopl...	OMIM:147791
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Lateral ventricle dilatation, Polymicrogyria, Type II lissencephaly, Normal pressure hydrocephalu...	ORPHA:300570
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Carnitine Palmitoyltransferase Ii Deficiency	Abnormality of neuronal migration, Hydrocephalus, Pachygyria, Polymicrogyria	ORPHA:157
Neurooculorenal Syndrome	Ventriculomegaly, Polymicrogyria, Cryptorchidism, Hydrocephalus, Aqueductal stenosis	OMIM:620305
Monosomy 18Q	Micropenis, Hydrocephalus, Bilateral cryptorchidism	ORPHA:1600
Alexander Disease	Precocious puberty, Aqueductal stenosis, Hydrocephalus	ORPHA:58
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Cryptorchidism	ORPHA:250989
Iniencephaly	Spinal dysraphism, Myelomeningocele, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Spi...	ORPHA:63259
7Q11.23 Microduplication Syndrome	Ventriculomegaly, Aplasia/hypoplasia of the uterus, Simplified gyral pattern, Cryptorchidism, Hyd...	ORPHA:96121
Achondroplasia	Hydrocephalus	ORPHA:15
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Hypospadias, Hydrocephalus, Cryptorchidism	OMIM:305450
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Polymicrogyria, Cryptorch...	OMIM:620371
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hydrocephalus, Ventriculomegaly, Azoospermia	ORPHA:2072
Hyperparathyroidism, Transient Neonatal	Ventriculomegaly, Communicating hydrocephalus, Ovarian cyst	OMIM:618188
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Fanconi Anemia, Complementation Group D2	Hypergonadotropic hypogonadism, Micropenis, Hydrocephalus, Cryptorchidism	OMIM:227646
Multiple Sulfatase Deficiency	Hydrocephalus	ORPHA:585
Monosomy 9Q22.3	Ovarian fibroma, Ventriculomegaly, Hydrocephalus	ORPHA:77301
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Hypogonadism, External genital hypoplasia, Cryptorchidism, Hydrocephal...	ORPHA:2658
Renal Cysts And Diabetes Syndrome	Atretic vas deferens, Epididymal cyst, Reduced sperm motility, Hypoplasia of the uterus, Bicornua...	OMIM:137920
Meckel Syndrome	Cryptorchidism, Encephalocele, True hermaphroditism, Male pseudohermaphroditism, Ambiguous genita...	ORPHA:564
Tetrasomy 5P	Hydrocephalus	ORPHA:3309
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus	OMIM:259700
Fanconi Anemia, Complementation Group A	Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility	OMIM:227650
Congenital Sialidosis Type 2	Hydrocephalus	ORPHA:93400
Otopalatodigital Syndrome Type 2	Myelomeningocele, Encephalocele, Hypospadias, Hydrocephalus	ORPHA:90652
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Dural Sinus Malformation	Myelopathy, Hydrocephalus	ORPHA:97339
Shprintzen-Goldberg Craniosynostosis Syndrome	Hydrocephalus, Cryptorchidism	OMIM:182212
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus	ORPHA:974
Apert Syndrome	Vaginal atresia, Ventriculomegaly, Hydrocephalus, Cryptorchidism	OMIM:101200
Joubert Syndrome With Hepatic Defect	Abnormality of neuronal migration, Occipital encephalocele, Hydrocephalus	ORPHA:1454
Thakker-Donnai Syndrome	Communicating hydrocephalus, Rectovaginal fistula	ORPHA:1780
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus	OMIM:239300
Holoprosencephaly	Spinal dysraphism, Cryptorchidism, Encephalocele, Abnormality of neuronal migration, Hydrocephalu...	ORPHA:2162
Osteopetrosis, Autosomal Recessive 5	Ventriculomegaly, Hydrocephalus, Stillbirth	OMIM:259720
Arachnoid Cyst	Holoprosencephaly, Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus	ORPHA:2356
Cardiofaciocutaneous Syndrome	Hydrocephalus, Cryptorchidism	ORPHA:1340
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Ventriculomegaly, Hydrocephalus	ORPHA:395
Rabin-Pappas Syndrome	Hydrocephalus	OMIM:620155
Marfanoid-Progeroid-Lipodystrophy Syndrome

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