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Gene: Kif6 MGI:1098238

Gene Summary

Name:

kinesin family member 6

Synonyms:

D130084M03Rik, D130004B10Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage
abnormal brain morphology	Kif6^{em1(IMPC)Ccpcz}	HOM	Early adult
hydrocephaly	Kif6^{em1(IMPC)Ccpcz}	HOM	Early adult
male infertility	Kif6^{em1(IMPC)Ccpcz}	HOM	Early adult
abnormal uterus morphology	Kif6^{em1(IMPC)Ccpcz}	HOM	Early adult
small heart	Kif6^{em1(IMPC)Ccpcz}	HOM	Early adult
abnormal heart morphology	Kif6^{em1(IMPC)Ccpcz}	HOM	Early adult
small testis	Kif6^{em1(IMPC)Ccpcz}	HOM	Early adult
hydrometra	Kif6^{em1(IMPC)Ccpcz}	HOM	Early adult
abnormal testis morphology	Kif6^{em1(IMPC)Ccpcz}	HOM	Early adult
female infertility	Kif6^{em1(IMPC)Ccpcz}	HOM	Early adult
decreased brain size	Kif6^{em1(IMPC)Ccpcz}	HOM	Early adult

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Human diseases caused by Kif6 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 Kif6 (0 diseases)
Human diseases predicted to be associated with Kif6 (1002 diseases)

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

The table below shows human diseases predicted to be associated to Kif6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hydrocephalus, Congenital, 1	Ventriculomegaly, Hydrocephalus	OMIM:236600
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Leukoencephalopathy With Vanishing White Matter 5	Dilated third ventricle, Lateral ventricle dilatation, Decreased CSF asialotransferrin to transfe...	OMIM:620315
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Ventriculomegaly, Hydrocephalus	OMIM:615938
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:600348
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Ventriculomegaly, Hydrocephalus	OMIM:615937
Partial Chromosome Y Deletion	Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Isochromosomy Yp	Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ...	ORPHA:98797
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I	ORPHA:488191
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Ventriculomegaly, Hydrocephalus	OMIM:604213
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi...	OMIM:619528
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
Holoprosencephaly 5	Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph...	OMIM:609637
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation...	OMIM:617960
Spermatogenic Failure 63	Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:619689
Isochromosomy Yq	Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Primar...	ORPHA:98798
Aneurysm, Intracranial Berry, 12	Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar...	OMIM:618734
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility	OMIM:619145
Pineocytoma	Increased CSF protein concentration, Hydrocephalus	ORPHA:251912
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Spermatogenic Failure 30	Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility	OMIM:618110
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Spermatogenic Failure 20	Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella	OMIM:617593
Oocyte/Zygote/Embryo Maturation Arrest 9	Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 14	Female infertility, Oocyte maturation arrest	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
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, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
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 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
Persistent Mullerian Duct Syndrome, Types I And Ii	Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism	OMIM:261550
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
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
Oocyte/Zygote/Embryo Maturation Arrest 21	Female infertility	OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Premature Ovarian Failure 19	Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	OMIM:619245
Spermatogenic Failure 84	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ...	OMIM:620409
Spermatogenic Failure 65	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm...	OMIM:619712
Spermatogenic Failure 56	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ...	OMIM:619515
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea	OMIM:300604
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph...	OMIM:301101
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell...	OMIM:301059
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ventriculomegaly, Hydrocephalus	OMIM:618709
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Hyperprolactinemia	Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration	OMIM:615555
Spermatogenic Failure 40	Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell...	OMIM:620084
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile...	OMIM:619585
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 47	Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Premature Ovarian Failure 6	Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul...	OMIM:612310
Oocyte/Zygote/Embryo Maturation Arrest 8	Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level	OMIM:619009
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Premature Ovarian Failure 13	Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen...	OMIM:617442
Internal Carotid Absence	Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia	ORPHA:981
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Spermatogenic Failure 39	Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo...	OMIM:618643
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation	OMIM:617967
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella	OMIM:620196
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility	OMIM:614822
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Hemiparkinsonism-Hemiatrophy Syndrome	Difficulty walking, Bradykinesia, Lateral ventricle dilatation	ORPHA:306669
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility	OMIM:612997
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,...	ORPHA:983
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation	OMIM:618266
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Spermatogenic Failure 41	Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility	OMIM:618670
Aneurysm, Intracranial Berry, 1	Dilatation of the cerebral artery, Intracranial hemorrhage	OMIM:105800
Aneurysm, Intracranial Berry, 2	Subarachnoid hemorrhage, Cerebral berry aneurysm	OMIM:608542
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Spermatogenic Failure 17	Male infertility	OMIM:617214
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Ventriculomegaly, Hydrocephalus	OMIM:614830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal...	OMIM:613154
Spermatogenic Failure 1	Cryptozoospermia, Oligozoospermia, Male infertility	OMIM:258150
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Deafness-Infertility Syndrome	Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation	OMIM:616816
Brain Small Vessel Disease 2	Ventriculomegaly, Intracranial hemorrhage	OMIM:614483
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Lissencephaly 4	Colpocephaly, Agenesis of corpus callosum	OMIM:614019
Spermatogenic Failure 44	Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size...	OMIM:619044
46,Xy Sex Reversal 11	Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co...	OMIM:273250
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 87	Ruffled acrosome, Male infertility	OMIM:620500
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Spermatogenic Failure 64	Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe...	OMIM:619696
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility	OMIM:619828
Leydig Cell Hypoplasia	Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema...	ORPHA:755
Martsolf Syndrome 2	Lateral ventricle dilatation	OMIM:619420
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Cerebral Cavernous Malformations	Cerebral cavernous malformation, Intracranial hemorrhage	OMIM:116860
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Ataxia	ORPHA:99966
Familial Cervical Artery Dissection	Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach...	ORPHA:36382
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation	OMIM:615889
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
1Q21.1 Microduplication Syndrome	Tetralogy of Fallot, Hydrocephalus, Hypospadias, Cryptorchidism	ORPHA:250994
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Abeta Amyloidosis, Iowa Type	Stroke, Gait disturbance, Abnormal cerebral vascular morphology, Cerebral hemorrhage	ORPHA:324708
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:613443
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation	OMIM:617296
Hypogonadism, Male	Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy	OMIM:241100
Ovarian Dysgenesis 2	Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of...	OMIM:300510
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism, Hydrocephalus	OMIM:300886
Masa Syndrome	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:303350
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Dilated third ventricle, Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:619244
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Spina bifida occulta, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus...	OMIM:618736
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
Hydrolethalus Syndrome 2	Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:614120
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Delayed puberty, Hydrocephalus, Hypospadias	ORPHA:141333
Cerebral Amyloid Angiopathy, Cst3-Related	Stroke, Intracranial hemorrhage, Cerebral hemorrhage	OMIM:105150
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Dilated third ventricle	OMIM:619725
Premature Ovarian Failure 22	Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in...	OMIM:620548
Ovarian Dysgenesis 6	Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar...	OMIM:618078
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Cerebral Cavernous Malformations 2	Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage	OMIM:603284
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Methylmalonic Acidemia With Homocystinuria	Lethargy, Gait disturbance, Hydrocephalus	ORPHA:26
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation	ORPHA:77299
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas...	ORPHA:52901
Congenital Factor V Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo...	ORPHA:326
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation	OMIM:618330
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Abetal34V Amyloidosis	Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage	ORPHA:324703
Pseudo-Torch Syndrome 2	Ventriculomegaly, Lateral ventricle dilatation, Petechiae, Bradycardia, Lethargy, Cerebral hemorr...	OMIM:617397
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,...	ORPHA:99429
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Alg2-Cdg	Lateral ventricle dilatation	ORPHA:79326
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Partial agenesis of the corpus callosum, Dilation of Virchow-Robin spaces, Lateral ventricle dila...	OMIM:619517
Asherman Syndrome	Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O...	ORPHA:137686
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation	OMIM:617668
Central Neurocytoma	Lethargy, Abnormal lateral ventricle morphology, Hydrocephalus, Ataxia	ORPHA:73256
Dural Sinus Malformation	Ataxia, Myelopathy, Subdural hemorrhage, Abnormal facial vein morphology, Stroke, Subarachnoid he...	ORPHA:97339
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Reversible Cerebral Vasoconstriction Syndrome	Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i...	ORPHA:284388
Circumvallate Placenta Syndrome	Intracranial hemorrhage	OMIM:215550
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Mitral valve prolapse, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis...	ORPHA:2183
Primary Angiitis Of The Central Nervous System	Abnormal CSF protein concentration, Cerebral vasculitis, Transient ischemic attack, Stroke, Ataxi...	ORPHA:140989
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn...	ORPHA:168563
Perrault Syndrome 6	Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl...	OMIM:617565
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Premature Ovarian Failure 7	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate...	OMIM:612964
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ventriculomegaly, Occipital encephalocele, Hydrocephalus	ORPHA:324416
Glanzmann Thrombasthenia 1	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin...	OMIM:273800
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ...	ORPHA:90797
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventriculomegaly, Lateral ventricle dilatation, Inability to walk, Abnormal CSF pyruvate family a...	ORPHA:79243
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Craniosynostosis 6	Spina bifida occulta, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus...	OMIM:616602
Pontocerebellar Hypoplasia, Type 1A	Limb ataxia, Lateral ventricle dilatation, Ataxia	OMIM:607596
Spermatogenic Failure 77	Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor...	OMIM:620103
Familial Cerebral Saccular Aneurysm	Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T...	ORPHA:231160
Premature Ovarian Failure 3	Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea	OMIM:608996
Factor Xiii, A Subunit, Deficiency Of	Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ...	OMIM:613225
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Congenital Hydrocephalus	Ventriculomegaly, Colpocephaly, Hydrocephalus	ORPHA:2185
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test...	OMIM:614841
Polymicrogyria Due To Tubb2B Mutation	Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:300573
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Arterial stenosis, Ischemic stroke, Cerebral ischemia, Stroke, Gait di...	ORPHA:136
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Delayed...	OMIM:614324
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility	ORPHA:3000
Congenital Factor Ii Deficiency	Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ...	ORPHA:325
Corpus Callosum, Partial Agenesis Of, X-Linked	Partial agenesis of the corpus callosum, Ventriculomegaly, Hydrocephalus	OMIM:304100
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Kennedy Disease	Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction	ORPHA:481
Cerebral Amyloid Angiopathy, App-Related	Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Recurrent cerebra...	OMIM:605714
Acalvaria	Holoprosencephaly, Hydrocephalus, Spina bifida	ORPHA:945
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Lateral ventricle dilatation, Sub...	OMIM:618291
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Intellectual Developmental Disorder, Autosomal Dominant 56	Broad-based gait, Lateral ventricle dilatation, Inability to walk, Ataxia, Bradykinesia	OMIM:617854
Dystonia 31	Difficulty walking, Abnormal posturing	OMIM:619565
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Elevated CSF D-2-hydroxyglutaric acid concentration, Lateral ventricle dilata...	OMIM:600721
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Hydrocephalus	ORPHA:398189
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Functioning Gonadotropic Adenoma	Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f...	ORPHA:91348
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Ventriculomegaly, Dilated third ventricle, Hydrocephalus	ORPHA:500055
Moderate Hemophilia A	Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo...	ORPHA:169805
Immune Thrombocytopenia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep...	ORPHA:3002
Ciliary Dyskinesia, Primary, 51	Reduced sperm motility, Irregularly shaped sperm tail, Situs inversus totalis, Reduced progressiv...	OMIM:620438
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona...	OMIM:614837
Spermatogenic Failure 15	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin...	OMIM:616950
Glutamine Deficiency, Congenital	Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation	OMIM:610015
Factor Vii Deficiency	Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction...	OMIM:227500
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Inability to walk, Lateral ventricle dilatation	OMIM:615716
Ovarian Dysgenesis 9	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar...	OMIM:619665
X-Linked Intellectual Disability, Wilson Type	Lateral ventricle dilatation	ORPHA:85290
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum	OMIM:307000
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil...	ORPHA:90793
Congenital Factor Xiii Deficiency	Gingival bleeding, Epistaxis, Delayed onset bleeding, Prolonged bleeding following circumcision, ...	ORPHA:331
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Ciliary Dyskinesia, Primary, 37	Female infertility, Goiter, Situs inversus totalis, Hypothyroidism, Dextrocardia	OMIM:617577
Premature Ovarian Failure 18	Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ...	OMIM:619203
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Ventriculomegaly, Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation,...	ORPHA:397715
Papillary Tumor Of The Pineal Region	Difficulty walking, Increased CSF protein concentration, Hydrocephalus, Episodic ataxia	ORPHA:251915
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:2182
Pontocerebellar Hypoplasia, Type 15	Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum	OMIM:619302
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Dilated third ventricle, Lateral ventricle dilatation	ORPHA:544488
Cerebral Cavernous Malformations 3	Cerebral cavernous malformation, Cerebral hemorrhage	OMIM:603285
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Gait disturbance, Lateral ventricle dilatation	OMIM:221770
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit...	OMIM:620356
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Hyperglycorrhachia, Congestive heart failure, Increased CSF lactate, Ischemic stroke, ...	ORPHA:90065
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hypogonadism, Hydrocephalus, Cryptorchidism	OMIM:601794
Spermatogenic Failure 28	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre...	OMIM:618086
Severe Hemophilia A	Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor...	ORPHA:169802
Congenital Factor Vii Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ...	ORPHA:327
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Ataxia	OMIM:608629
Abeta Amyloidosis, Italian Type	Stroke, Cerebral hemorrhage	ORPHA:324713
Fried Syndrome	Gait disturbance, Hydrocephalus	ORPHA:85335
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly	OMIM:614870
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Pontocerebellar Hypoplasia, Type 13	Inability to walk, Gait ataxia, Lateral ventricle dilatation, Dandy-Walker malformation	OMIM:618606
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,...	ORPHA:251510
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub...	ORPHA:853
Ovarian Dysgenesis 7	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva...	OMIM:618117
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Spermatogenic Failure 2	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm...	OMIM:108420
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum	ORPHA:1528
Spermatogenic Failure 38	Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella...	OMIM:618433
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo...	OMIM:619897
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Hydrocephalus	OMIM:619470
Premature Ovarian Failure 20	Elevated circulating luteinizing hormone level, Female infertility, Secondary amenorrhea, Elevate...	OMIM:619938
Pontocerebellar Hypoplasia, Type 14	Hydrocephalus, Agenesis of corpus callosum	OMIM:619301
Cach Syndrome	Truncal ataxia, Limb ataxia, Lateral ventricle dilatation, Dysmetria	ORPHA:135
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Lateral ventricle dilatation	ORPHA:284417
Hemophilia A	Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem...	ORPHA:98878
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Afibrinogenemia, Congenital	Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr...	OMIM:202400
Gómez-López-Hernández Syndrome	Hydrocephalus, Ataxia	ORPHA:1532
Autosomal Recessive Spastic Paraplegia Type 66	Difficulty walking, Colpocephaly, Spastic gait	ORPHA:401815
Huntington Disease-Like 1	Ventriculomegaly, Abnormal posturing, Gait ataxia, Dysmetria, Gait disturbance, Bradykinesia	ORPHA:157941
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology, Gait imbalance, Gait ataxia	ORPHA:488635
Bilateral Generalized Polymicrogyria	Lateral ventricle dilatation	ORPHA:208447
Combined Deficiency Of Factor V And Factor Viii	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis...	ORPHA:35909
Alexander Disease	Increased CSF protein concentration, Hydrocephalus, Dysmetria, Ataxia	OMIM:203450
Developmental And Epileptic Encephalopathy 36	Abnormal bleeding, Hydrocephalus	OMIM:300884
Malan Overgrowth Syndrome	Ventriculomegaly, Lateral ventricle dilatation, Episodic ataxia	ORPHA:420179
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:617751
Asparagine Synthetase Deficiency	Ventriculomegaly, Dilated fourth ventricle, Dilated third ventricle	OMIM:615574
Factor X Deficiency	Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge...	OMIM:227600
Basel-Vanagaite-Smirin-Yosef Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:464738
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation	ORPHA:3078
Leukoencephalopathy With Calcifications And Cysts	Stroke, Gait disturbance, Ataxia, Cerebral hemorrhage	ORPHA:542310
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Pulmonary embolism, Cerebral hemorrhage	OMIM:614514
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Dilated third ventricle, Abnormal cerebrospinal fluid morphology	ORPHA:314404
Congenital Alpha2-Antiplasmin Deficiency	Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag...	ORPHA:79
Sneddon Syndrome	Arterial stenosis, Hypertension, Intracranial hemorrhage	ORPHA:820
Primary Ciliary Dyskinesia	Abnormal sperm motility, Ventriculomegaly, Female infertility, Atrial situs ambiguous, Abnormal h...	ORPHA:244
Congenital Factor X Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h...	ORPHA:328
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Ventriculomegaly, Lateral ventricle dilatation, Difficulty walking, Gait imbalance, Dysplastic co...	ORPHA:488627
Hemophilia B	Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist...	ORPHA:98879
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Snakebite Envenomation	Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Cerebral ischemi...	ORPHA:449285
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Dandy-Walker Malformation With Postaxial Polydactyly	Aortic valve stenosis, Dilated fourth ventricle, Hydrocephalus, Vascular dilatation, Truncal atax...	OMIM:220220
Perrault Syndrome 3	Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu...	OMIM:614129
47,Xyy Syndrome	Varicocele, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligozoospermia, Inc...	ORPHA:8
Ovarian Dysgenesis 5	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f...	OMIM:617690
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Fusion of the left and right thalami, Hydrocephalus, Agenesis of corpus callosum	OMIM:617542
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Colpocephaly, Hydrocephalus	OMIM:620371
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o...	ORPHA:90796
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas...	ORPHA:432
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy, Moyamoya phenomenon, Azoospermia, Ischemic stroke, Coronary artery athero...	ORPHA:280679
Aicardi-Goutieres Syndrome 4	CSF lymphocytic pleiocytosis, Ventriculomegaly, Hydrocephalus	OMIM:610333
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 66	Globozoospermia, Male infertility	OMIM:619799
Neurocutaneous Melanocytosis	Ventriculomegaly, Intracranial hemorrhage, Dandy-Walker malformation, Meningocele	ORPHA:2481
Aromatase Deficiency	Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ...	ORPHA:91
Combined Oxidative Phosphorylation Defect Type 39	Tip-toe gait, Lateral ventricle dilatation, Increased CSF lactate, Loss of ambulation, Bradycardia	ORPHA:565624
Giant Axonal Neuropathy 1, Autosomal Recessive	Steppage gait, Lateral ventricle dilatation	OMIM:256850
Aicardi Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Choroid plexus cyst, Spina bifida, Partial...	OMIM:304050
Familial Afibrinogenemia	Gingival bleeding, Epistaxis, Abnormal bleeding, Cerebral hemorrhage	ORPHA:98880
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Increased circulating androstenedione concentration, Aplasia of th...	OMIM:158330
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Lateral ventricle dilatation	OMIM:614105
46,Xy Sex Reversal 3	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo...	OMIM:612965
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr...	ORPHA:465
Wars2-Related Combined Oxidative Phosphorylation Defect	Ventriculomegaly, Lateral ventricle dilatation, Cardiomyopathy, Difficulty walking, Dilated fourt...	ORPHA:572798
Hemochromatosis, Type 1	Cardiomyopathy, Azoospermia, Cardiomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Testicular ...	OMIM:235200
Acquired Von Willebrand Syndrome	Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,...	ORPHA:99147
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Ventriculomegaly, Hypoplastic female external genitalia, Cryptorchidism	OMIM:618577
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Diabetic Embryopathy	Spinal dysraphism, Abnormal morphology of female internal genitalia, Tetralogy of Fallot, Cryptor...	ORPHA:1926
Dengue Fever	Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ...	ORPHA:99828
Wyburn-Mason Syndrome	Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ...	ORPHA:53719
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Ataxia, Intracranial hemorrhage, Hypertension, Dandy-W...	OMIM:614424
1P31P32 Microdeletion Syndrome	Moyamoya phenomenon, Ventriculomegaly, Intraventricular hemorrhage	ORPHA:401986
Slc35A2-Cdg	Tetralogy of Fallot, Lateral ventricle dilatation, Dandy-Walker malformation, Inability to walk	ORPHA:356961
Methanol Poisoning	Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor...	ORPHA:31825
Perrault Syndrome 4	Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased...	OMIM:615300
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Inability to walk, Hydrocephalus, Ataxia	OMIM:618174
2,4-Dienoyl-Coa Reductase Deficiency	Ventriculomegaly, Increased CSF lactate, Increased CSF lysine concentration, Colpocephaly, Hydroc...	OMIM:616034
Spermatogenic Failure 14	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615842
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation	OMIM:619995
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Inability to walk, Abnormal left ventricular function, Hydrocephalus, Cardiomyopathy	OMIM:613155
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Sneddon Syndrome	Stroke, Ischemic stroke, Hypertension, Cerebral hemorrhage	OMIM:182410
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Craniofacial Dyssynostosis With Short Stature	Ventriculomegaly, Cryptorchidism, Ventricular septal defect, Hydrocephalus, Hypospadias	OMIM:218350
Chromosome 6Q24-Q25 Deletion Syndrome	Lateral ventricle dilatation, Tricuspid regurgitation, Agenesis of corpus callosum, Persistent fe...	OMIM:612863
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation	OMIM:620075
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Decreased response to growth hormone stimulation t...	OMIM:220210
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism, Enlarged uterus	ORPHA:99927
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov...	OMIM:277000
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Male infertility, Dextrocardia	OMIM:618948
Hec Syndrome	Endocardial fibroelastosis, Communicating hydrocephalus, Vaginal hydrocele, Cardiomyopathy	ORPHA:2119
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:83473
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia...	OMIM:308700
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lateral ventricle dilatation	OMIM:618914
Glutaryl-Coa Dehydrogenase Deficiency	Ventriculomegaly, Subdural hemorrhage, Subependymal nodules, Ataxia, Retinal hemorrhage, Communic...	ORPHA:25
Congenital Muscular Dystrophy, Fukuyama Type	Ventriculomegaly, Dilated cardiomyopathy, Gait disturbance, Hydrocephalus	ORPHA:272
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility	ORPHA:48
Medulloblastoma	Dysmetria, Cerebellar hemorrhage, Lethargy, Hydrocephalus, Ataxia, Cerebellar ataxia associated w...	ORPHA:616
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypertrophic cardiomyopathy, Hydrocephalus, Cryptorchidism, Pulmonic stenosis	ORPHA:2701
Alexander Disease Type I	Hydrocephalus, Abnormal thalamic MRI signal intensity	ORPHA:363717
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Pulmonic stenosis, Dys...	ORPHA:3109
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo...	OMIM:614842
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Situs inversus totalis, Male infertility, Coiled sperm flagella	OMIM:620197
Periventricular Nodular Heterotopia 1	Stroke, Patent ductus arteriosus, Cerebral hemorrhage	OMIM:300049
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes...	OMIM:278850
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona...	OMIM:308750
Congenital Toxoplasmosis	Ventriculomegaly, Hydrocephalus	ORPHA:858
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Aortic regurgitation, Gait disturbance, Hydrocephalus	ORPHA:2181
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Linear Skin Defects With Multiple Congenital Anomalies 3	Dilated cardiomyopathy, Lateral ventricle dilatation, Histiocytoid cardiomyopathy, Agenesis of co...	OMIM:300952
Superficial Siderosis	Ataxia, Increased CSF protein concentration, Abnormal bleeding, Arteriovenous malformation, Limb ...	ORPHA:247245
Temple Syndrome	Precocious puberty, Decreased response to growth hormone stimulation test, Type II diabetes melli...	ORPHA:254516
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Dilation of Virchow-Robin spaces, Lateral ventricle dilatation	ORPHA:2148
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Hydrocephalus	OMIM:248000
Ciliary Dyskinesia, Primary, 36, X-Linked	Situs inversus totalis, Male infertility	OMIM:300991
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero...	ORPHA:325124
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:602501
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Lateral ventricle dilatation, Inability to walk, Spastic ataxia, Normal pressure hydrocephalus, P...	ORPHA:300570
Nasu-Hakola Disease	Ventriculomegaly, Hydrocephalus	ORPHA:2770
Isovaleric Acidemia	Lethargy, Cerebellar hemorrhage	OMIM:243500
Fibronectin Glomerulopathy	Hypertension, Cerebral hemorrhage	ORPHA:84090
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation	OMIM:607485
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Lateral ventricle dilatation	OMIM:619847
Greig Cephalopolysyndactyly Syndrome	Ventriculomegaly, Abnormal heart morphology, Cryptorchidism, Atrial septal defect, Hydrocephalus,...	OMIM:175700
Spermatogenic Failure 13	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615841
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Familial Multiple Nevi Flammei	Arteriovenous malformation, Pulmonary embolism, Venous insufficiency, Arrhythmia, Intracranial he...	ORPHA:624
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Nasofrontal encephalocele, Ventriculomegaly, Small pituitary gland, Hydrocephalus	OMIM:614195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:613153
Acquired Purpura Fulminans	Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Intracranial hemorrhage	ORPHA:49566
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
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,...	OMIM:110100
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Dilation of Virchow-Robin spaces, Agenesis of corpus ca...	OMIM:619955
Triploidy	Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Abnormal cardiac septum morphology, Meningoce...	ORPHA:3376
Cerebral Visual Impairment	Intracranial hemorrhage, Ischemic stroke, Hydrocephalus	ORPHA:447788
Distal Deletion 10Q	Lateral ventricle dilatation, Ataxia, Spina bifida occulta, Unsteady gait, Patent ductus arteriosus	ORPHA:96148
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:168558
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus	OMIM:276950
Genitopalatocardiac Syndrome	Cryptorchidism, Male pseudohermaphroditism, Gonadal dysgenesis, male, Abnormal cardiac septum mor...	ORPHA:2075
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Stroke-li...	OMIM:300845
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce...	OMIM:277450
Noonan Syndrome 14	Aortic regurgitation, Bruising susceptibility, Lateral ventricle dilatation, Hypertrophic cardiom...	OMIM:619745
Spermatogenic Failure, X-Linked, 4	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos...	OMIM:301077
Coach Syndrome 2	Hydrocephalus, Agenesis of corpus callosum	OMIM:619111
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic root aneurysm, Abdominal aortic aneurysm, Carotid artery dilatation, Patent ductus arterio...	ORPHA:91387
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hydranencephaly, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malfo...	OMIM:225790
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus, Patent ductus arteriosus	ORPHA:1516
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida	OMIM:207950
Autosomal Recessive Spastic Paraplegia Type 11	Lateral ventricle dilatation, Inability to walk, Gait disturbance, Orthostatic hypotension, Ataxia	ORPHA:2822
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Ventricular septal defect, Hydrocephalus, Hypoplasia of penis, Holoprosencephaly,...	ORPHA:77298
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto...	OMIM:194072
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Steppage gait, Hydrocephalus, Inability to walk by childhood/adolescence	ORPHA:99947
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Unsteady gait, Lateral ventricle dilatation, Ataxia	ORPHA:457279
Vascular Hyalinosis	Hematochezia, Vascular dilatation, Subarachnoid hemorrhage	OMIM:277175
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Telangiectasia, Hereditary Hemorrhagic, Type 4	Arteriovenous fistulas of celiac and mesenteric vessels, Right-to-left shunt, Tongue telangiectas...	OMIM:610655
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing, Lethargy, Coarctation of aorta, Pulmonary arterial hypertension, Patent ductu...	OMIM:614857
Classic Galactosemia	Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow...	ORPHA:79239
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Choroid plexus cyst, Lateral ventricle dilatation	ORPHA:293725
Pseudotrisomy 13 Syndrome	Cryptorchidism, Complete atrioventricular canal defect, Ventricular septal defect, Encephalocele,...	OMIM:264480
Erythrocytosis, Familial, 2	Hypotension, Varicose veins, Stroke, Pulmonary arterial hypertension, Cerebral hemorrhage	OMIM:263400
Cog5-Cdg	Truncal ataxia, Lateral ventricle dilatation	ORPHA:263487
Den Hoed-De Boer-Voisin Syndrome	Inability to walk, Ventriculomegaly, Lateral ventricle dilatation, Ataxia	OMIM:619229
Extracranial Carotid Artery Aneurysm	Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Cerebral ischemi...	ORPHA:494424
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal vascular...	ORPHA:464321
Estrogen Resistance	Breast aplasia, Increased serum estradiol, Hyperinsulinemia, Polycystic ovaries, Increased circul...	OMIM:615363
Non-Functioning Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:94080
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	ORPHA:163961
Satoyoshi Syndrome	Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog...	ORPHA:3130
Congenital Disorder Of Glycosylation, Type Iig	Lateral ventricle dilatation	OMIM:611209
Temple Syndrome	Precocious puberty, Maturity-onset diabetes of the young, Decreased testicular size, Cryptorchidi...	OMIM:616222
Houge-Janssens Syndrome 2	Ventriculomegaly, Inability to walk, Gait ataxia, Agenesis of corpus callosum, Hydrocephalus	OMIM:616362
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Decreased serum testosterone concentration, Decreased libido, Cardiomegaly, Hypog...	ORPHA:465508
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Second degree atrioventricular block, Pulmonary arterial hypertension, Intracranial he...	ORPHA:369929
Polycythemia Vera	Budd-Chiari syndrome, Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage	OMIM:263300
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Micropenis, Hydrocephalus, Hypospadias, Cryptorchidism	ORPHA:171839
Classic Pantothenate Kinase-Associated Neurodegeneration	Inability to walk, Tip-toe gait, Gait disturbance, Abnormal posturing	ORPHA:216866
Pallister-Hall-Like Syndrome	Anterior hypopituitarism, Occipital encephalocele, Hydrocephalus, Hypothalamic hamartoma	OMIM:241800
Lumbar Syndrome	Bifid scrotum, Myelomeningocele, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, M...	ORPHA:83628
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:109120
Arachnoiditis	Hydrocephalus	ORPHA:137817
Abeta Amyloidosis, Dutch Type	Stroke, Cerebral amyloid angiopathy, Cerebral hemorrhage	ORPHA:100006
Axenfeld-Rieger Syndrome, Type 2	Abnormal heart morphology, Hydrocephalus, Hypospadias, Cryptorchidism	OMIM:601499
Acys Amyloidosis	Stroke, Cerebral amyloid angiopathy, Cerebral hemorrhage	ORPHA:100008
3C Syndrome	Aortic valve stenosis, Hypoplastic left heart, Ventriculomegaly, Tetralogy of Fallot, Atrioventri...	ORPHA:7
Orofaciodigital Syndrome Type 14	Partial agenesis of the corpus callosum, Dilated fourth ventricle, Dilated third ventricle, Dandy...	ORPHA:434179
Mohr-Tranebjaerg Syndrome	Abnormal posturing	OMIM:304700
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Gabriele-De Vries Syndrome	Aortopulmonary collateral arteries, Tip-toe gait, Lateral ventricle dilatation, Waddling gait	OMIM:617557
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Ventriculomegaly, Colpocephaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:620156
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Thanatophoric Dysplasia Type 2	Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele	ORPHA:93274
Aicardi-Goutieres Syndrome 9	Lateral ventricle dilatation, Portal hypertension, Hypertension, Increased blood pressure, Perica...	OMIM:619487
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Communicating hydroce...	OMIM:615219
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, Ventriculomegaly, Gait disturbance, Patent ductus arteriosus	OMIM:609757
Familial Hyperaldosteronism Type Ii	Epistaxis, Intracranial hemorrhage, Hypertension	ORPHA:404
Familial Hyperaldosteronism Type I	Epistaxis, Intracranial hemorrhage, Hypertension	ORPHA:403
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Medial calcification of medi...	OMIM:177850
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Histiocytoid cardiomyopathy, Ventricular septal defect, Ovotestis, Chordee,...	OMIM:309801
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation	OMIM:611134
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Mirage Syndrome	Hydrocephalus, Petechiae, Intracranial hemorrhage, Patent ductus arteriosus	OMIM:617053
Cardiac-Urogenital Syndrome	Hypoplastic left heart, Coronary sinus enlargement, Bifid scrotum, Biventricular hypertrophy, Tet...	OMIM:618280
Propionic Acidemia	Lethargy, Cerebellar hemorrhage, Cardiomyopathy	OMIM:606054
Emanuel Syndrome	Aortic valve stenosis, Ventriculomegaly, Hypogonadism, Cryptorchidism, Ventricular septal defect,...	ORPHA:96170
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly	OMIM:618731
Deafness-Lymphedema-Leukemia Syndrome	Intracranial hemorrhage, Bruising susceptibility, Prolonged bleeding time	ORPHA:3226
Mosaic Trisomy 1	Pulmonary artery atresia, Coarctation of aorta, Lateral ventricle dilatation, Agenesis of corpus ...	ORPHA:1692
Fanconi Anemia, Complementation Group B	Ventriculomegaly, Hypogonadism, Ventricular septal defect, Hydrocephalus, Micropenis, Hypergonado...	OMIM:300514
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, High-output c...	OMIM:187300
Erythrocytosis, Familial, 1	Hypertension, Myocardial infarction, Cerebral hemorrhage	OMIM:133100
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Abnormal circulating dehydroepia...	ORPHA:90794
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular septal defect, Hydrocephalus, Dandy-Walk...	OMIM:612938
Vaginal Atresia	Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va...	ORPHA:65681
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension	ORPHA:251274
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Bainbridge-Ropers Syndrome	Inability to walk, Lateral ventricle dilatation	OMIM:615485
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Bicuspid aortic valve, Chordee, Abnorm...	ORPHA:1772
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility	OMIM:619518
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ...	ORPHA:572333
Plasminogen Deficiency, Type I	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:217090
Ventriculomegaly With Cystic Kidney Disease	Ventriculomegaly, Hydrocephalus	OMIM:219730
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Ambiguous genitalia, Cryptorchidism	ORPHA:1237
Hypoplasminogenemia	Abnormality of the ovary, Abnormal fallopian tube morphology, Hydrocephalus, Cervicitis, Dandy-Wa...	ORPHA:722
Houge-Janssens Syndrome 1	Ventriculomegaly, Hydrocephalus	OMIM:616355
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Small pituitary gland, Ventriculomegaly, Lateral ventricle dilatation	OMIM:619479
Hydranencephaly	Ventriculomegaly, Dilatation of the ventricular cavity, Abnormal internal carotid artery morpholo...	ORPHA:2177
Weaver Syndrome	Ventriculomegaly, Lateral ventricle dilatation, Patent ductus arteriosus	OMIM:277590
Infantile Sialic Acid Storage Disease	Cardiomegaly, Hydrocephalus	OMIM:269920
Hydrolethalus	Hydrocephalus, Abnormal fallopian tube morphology, Cryptorchidism, Anencephaly	ORPHA:2189
Krabbe Disease	Increased CSF protein concentration, Hydrocephalus	OMIM:245200
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Bresek Syndrome	Hydrocephalus, Decreased testicular size, Cryptorchidism	ORPHA:85284
Hydrocephaly-Low Insertion Umbilicus Syndrome	Tetralogy of Fallot, Communicating hydrocephalus, Patent ductus arteriosus, Anomalous pulmonary v...	ORPHA:2184
Congenital Muscular Dystrophy With Cerebellar Involvement	Ventriculomegaly, Decreased thalamic volume, Occipital encephalocele, Dilated fourth ventricle, A...	ORPHA:370959
Sporadic Infantile Bilateral Striatal Necrosis	Abnormal posturing, Gait ataxia, Gait disturbance, Bradykinesia, Titubation	ORPHA:225147
Autoerythrocyte Sensitization Syndrome	Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Ecchymo...	ORPHA:324636
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Tetr...	ORPHA:3097
Arachnoid Cyst	Enlarged fossa interpeduncularis, Inability to walk, Encephalocele, Subarachnoid hemorrhage, Gait...	ORPHA:2356
Seckel Syndrome 7	Hypoplasia of the uterus, Central hypothyroidism, Primary amenorrhea	OMIM:614851
Müllerian Aplasia And Hyperandrogenism	Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary...	ORPHA:247768
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601076
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Situs inversus totalis, Male infertility, Dextrocardia	OMIM:619607
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus	ORPHA:1914
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Facial telangiectasia, Cerebral art...	OMIM:600376
Emanuel Syndrome	Aortic valve stenosis, Ventriculomegaly, Cryptorchidism, Ventricular septal defect, Truncus arter...	OMIM:609029
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Hypogonadism	OMIM:160900
Pituitary Deficiency Due To Rathke Cleft Cysts	Secondary growth hormone deficiency, Increased circulating prolactin concentration, Hypopituitari...	ORPHA:91350
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Arteriovenous malformation, Abnormal bleeding, Congestive heart failure, Cerebral isch...	ORPHA:137667
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr...	OMIM:171420
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Arteriovenous malformation, Cerebral ischemia, Arrhythmia, Telangiectasia of th...	ORPHA:60040
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Brea...	ORPHA:785
Combined Oxidative Phosphorylation Deficiency 25	Ventriculomegaly, Intraventricular hemorrhage	OMIM:616430
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Aspergillosis	Stroke, Intracranial hemorrhage	ORPHA:1163
Pentalogy Of Cantrell	Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladder, Encephalocele, Ventricu...	ORPHA:1335
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Tetralogy of Fallot, Encephalocele, Hydrocephalus, Pulmonary artery atresia, M...	ORPHA:1908
Trisomy 1Q	Small scrotum, Ventriculomegaly, Cryptorchidism, Ventricular septal defect, Ambiguous genitalia, ...	ORPHA:261344
Exstrophy-Epispadias Complex	Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Abn...	ORPHA:322
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De...	OMIM:202010
Fetal Gaucher Disease	Intracranial hemorrhage	ORPHA:85212
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Lethargy, Cerebellar hemorrhage, Cardiomyopathy	OMIM:251000
Ciliary Dyskinesia, Primary, 9	Situs inversus totalis, Male infertility	OMIM:612444
Parkes Weber Syndrome	Arteriovenous malformation, Abnormal bleeding, Vascular tortuosity, Myelopathy, Venous malformati...	ORPHA:90307
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus, Hydrocephalus	ORPHA:2736
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ventriculomegaly, Dilated cardiomyopathy, Agenesis of corpus callosum, Arrhythmia, Lethargy, Ante...	OMIM:608836
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Ventricular septal defect, Subvalvular aortic stenosis, Hydrocephalus, Atrial sep...	OMIM:613001
Hereditary Hemorrhagic Telangiectasia	Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, ...	ORPHA:774
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventriculomegaly, Hydrocephalus	OMIM:615630
Menkes Disease	Intracranial hemorrhage	OMIM:309400
Thanatophoric Dysplasia	Ventriculomegaly, Hydrocephalus	ORPHA:2655
Satoyoshi Syndrome	Amenorrhea, Hypoplasia of the uterus	OMIM:600705
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Abnormality of the male genitalia, Double outlet right ventricle, Hydrocephalus, ...	OMIM:614886
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension	ORPHA:231625
Wolfram Syndrome 1	Cardiomyopathy, Hypothyroidism, Testicular atrophy, Diabetes insipidus, Diabetes mellitus	OMIM:222300
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhe...	OMIM:146255
Tempi Syndrome	Telangiectasia, Intracranial hemorrhage	ORPHA:284227
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Ventriculomegaly, Stroke, Lethargy, Gait disturbance, Hydrocephalus, Ataxia	ORPHA:395
Ciliary Dyskinesia, Primary, 18	Immotile sperm, Situs inversus totalis, Male infertility	OMIM:614874
Weiss-Kruszka Syndrome	Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:618619
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly, Mitral regurgitation, Vascular ring	OMIM:603387
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Cryptorchidism, Dandy-Walker malformation	OMIM:310400
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Ventriculomegaly, Colpocephaly, Hydrocephalus, Ataxia	OMIM:619833
Dextrocardia	Pancreatic hypoplasia, Abnormal heart morphology, Situs inversus totalis, Abnormal reproductive s...	ORPHA:1666
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Edinburgh Malformation Syndrome	Hydrocephalus	ORPHA:1895
Methylcobalamin Deficiency Type Cble	Lethargy, Ventriculomegaly, Hypertension, Hydrocephalus	ORPHA:2169
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Secundum atrial septal defect, Supernumerary nipple, Cryptorchidism, Hydrocephalus, Micropenis	OMIM:619951
Prader-Willi Syndrome Due To Translocation	Decreased response to growth hormone stimulation test, Lateral ventricle dilatation, Anterior pit...	ORPHA:177907
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Gait disturbance, Hydrocephalus	OMIM:613330
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Ventriculomegaly, Intraventricular hemorrhage, Hydrocephalus	OMIM:613603
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hypoplastic labia majora, Fused labia minora, Hydrocephalus, Atrial septal defect, Vaginal atresia	OMIM:207410
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Stroke, Lethargy, Pulmonary arte...	ORPHA:79282
Distal Triplication 15Q	Abnormal heart morphology, Abnormal external genitalia, Atrial septal defect, Hydrocephalus, Hydr...	ORPHA:314588
Pettigrew Syndrome	Ventriculomegaly, Gait ataxia, Hydrocephalus, Aqueductal stenosis, Choreoathetosis, Dandy-Walker ...	OMIM:304340
Wiskott-Aldrich Syndrome	Gingival bleeding, Vasculitis, Hematochezia, Epistaxis, Bruising susceptibility, Spontaneous hema...	ORPHA:906
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Cerebral hemo...	OMIM:620300
Hypophosphatasia, Infantile	Intracranial hemorrhage	OMIM:241500
Stormorken Syndrome	Epistaxis, Abnormal bleeding, Bruising susceptibility, Stroke-like episode, Subarachnoid hemorrhage	OMIM:185070
Acyl-Coa Dehydrogenase 9 Deficiency	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Cerebellar hemorrh...	ORPHA:99901
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Holoprosencephaly-Postaxial Polydactyly Syndrome	Cryptorchidism, Encephalocele, Ambiguous genitalia, Adrenal hypoplasia, Abnormal cardiac septum m...	ORPHA:2166
Tetrasomy 15Q26	Hydrocephalus, Hypoplastic aortic arch, Patent ductus arteriosus, Dandy-Walker malformation	OMIM:614846
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Partial agenesis ...	OMIM:619895
Tenorio Syndrome	Ventriculomegaly, Syncope, Gait disturbance, Hydrocephalus, Raynaud phenomenon	OMIM:616260
B4Galt1-Cdg	Abnormal bleeding, Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Lethal Congenital Contracture Syndrome 5	Retinal hemorrhage, Subdural hemorrhage	OMIM:615368
Neonatal Lupus Erythematosus	Atrioventricular block, Dilated cardiomyopathy, Abnormal bleeding, Abnormal electrophysiology of ...	ORPHA:398124
Ciliary Dyskinesia, Primary, 14	Immotile sperm, Situs inversus totalis, Male infertility, Reduced sperm motility	OMIM:613807
Neurocardiofaciodigital Syndrome	Tetralogy of Fallot, Dilated fourth ventricle, Lateral ventricle dilatation, Patent ductus arteri...	OMIM:619869
1Q44 Microdeletion Syndrome	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:238769
Rhombencephalosynapsis	Fusion of the left and right thalami, Ventriculomegaly, Hydrocephalus	ORPHA:59315
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Parathyroid hypoplasia, Uterus didelphys, Abnormal heart morphology, Septate vagina, Hypoparathyr...	ORPHA:2237
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Lowry-Maclean Syndrome	Atrioventricular canal defect, Hypospadias, Hydrocephalus, Bilateral cryptorchidism	ORPHA:2409
Dyssegmental Dysplasia, Silverman-Handmaker Type	Abnormal heart morphology, Hydrocephalus, Encephalocele, Cryptorchidism	ORPHA:1865
Congenital Sialidosis Type 2	Abnormal EKG, Cherry red spot of the macula, Petechiae, Dysmetria, Telangiectasia, Hydrocephalus,...	ORPHA:93400
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro...	OMIM:154230
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Oeis Complex	Myelomeningocele, Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitali...	OMIM:258040
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Bifid scrotum, Cryptorchidism, Ambiguous genitalia, Atrial septal defect, Hydro...	OMIM:257300
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Aplasia of posterior communicating artery, Myelomeningocele, Hydroce...	OMIM:613686
Alkuraya-Kucinskas Syndrome	Small scrotum, Ventriculomegaly, Hydrocephalus, Micropenis, Pericardial effusion, Dandy-Walker ma...	OMIM:617822
Multiple Sulfatase Deficiency	Increased CSF protein concentration, Ventriculomegaly, Hydrocephalus	OMIM:272200
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Fetal intraventricular hemorrhage, Unsteady gait	OMIM:618480
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De...	ORPHA:95699
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost...	OMIM:305400
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Oculocerebrocutaneous Syndrome	Hydrocephalus, Ventriculomegaly, Cryptorchidism, Dandy-Walker malformation	ORPHA:1647
Meckel Syndrome 14	Occipital encephalocele, Aplasia of the uterus, Ambiguous genitalia, Single ventricle, Holoprosen...	OMIM:619879
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Thoracoabdominal Syndrome	Anencephaly, Transposition of the great arteries, Hydrocephalus, Ectopia cordis, Hypospadias	OMIM:313850
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Difficulty walking, Agenesis of corpus callosum, Hydrocephalus, Ataxia, Dandy-W...	OMIM:618476
Developmental And Epileptic Encephalopathy 31B	Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:620352
Pontocerebellar Hypoplasia, Type 7	Ventriculomegaly, Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Micropenis	OMIM:614969
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Interrupted aortic arch, Hydrocephalus, Heart murmur, Intracranial hemorrhage, Patent ductus arte...	ORPHA:163979
Sporadic Pheochromocytoma/Secreting Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:276621
Kaposiform Lymphangiomatosis	Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal lymphatic vessel morphology, Ecch...	ORPHA:464329
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc...	OMIM:241080
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicula...	ORPHA:3464
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Ventriculomegaly, Pineal cyst, Lateral ven...	OMIM:615873
Ciliary Dyskinesia, Primary, 34	Immotile sperm, Male infertility	OMIM:617091
Cocaine Intoxication	Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Prolonged QRS complex, Ischemic stro...	ORPHA:90068
Trisomy 17P	Aortic valve stenosis, Hypoplasia of penis, Hypoplastic left heart, Hydrocephalus	ORPHA:261290
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Ventriculomegaly, Choroid plexus cyst, Hydrocephalus	OMIM:617866
Cutis Laxa, Autosomal Recessive, Type Iib	Bruising susceptibility, Vascular tortuosity, Agenesis of corpus callosum, Hydrocephalus, Promine...	OMIM:612940
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Hemorrhagic Fever-Renal Syndrome	Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Petechiae, Ecchymosis, H...	ORPHA:340
Dystonia 1, Torsion, Autosomal Dominant	Inability to walk, Abnormal posturing	OMIM:128100
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Ventriculomegaly, Supernumerary nipple, Cryptorchidism, Hypothyroidism, Hydrocephalus, Hypoplasia...	ORPHA:1812
Joubert Syndrome With Renal Defect	Encephalocele, Agenesis of corpus callosum, Gait disturbance, Hydrocephalus, Ataxia	ORPHA:220497
Developmental And Epileptic Encephalopathy 49	Dysplastic corpus callosum, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Congenital Disorder Of Glycosylation, Type Iil	Hydrocephalus, Ventriculomegaly, Abnormal bleeding, Patent ductus arteriosus	OMIM:614576
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral ventricle dilatation	OMIM:263520
Griscelli Syndrome	Encephalocele, Hydrocephalus, Ataxia	ORPHA:381
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation	OMIM:614098
Halperin-Birk Syndrome	Ventriculomegaly, Semilobar holoprosencephaly, Inability to walk, Agenesis of corpus callosum, Co...	OMIM:618651
Proteus-Like Syndrome	Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries, Hydrocephalus, Comm...	ORPHA:2969
Fanconi Anemia	Ventriculomegaly, Abnormality of the uterus, Hypogonadism, Hypertrophic cardiomyopathy, Azoosperm...	ORPHA:84
Tetraamelia-Multiple Malformations Syndrome	Vaginal atresia, Hydrocephalus, Cryptorchidism	ORPHA:3301
Bannayan-Riley-Ruvalcaba Syndrome	Arteriovenous malformation, Subcutaneous hemorrhage, Telangiectasia, Angina pectoris, Aortic aneu...	ORPHA:109
Fg Syndrome Type 1	Small pituitary gland, Ventriculomegaly, Cryptorchidism, Mitral valve prolapse, Atrial septal def...	ORPHA:93932
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Agenesis of corpus callosum	OMIM:615249
Sandifer Syndrome	Hematemesis, Abnormal posturing	ORPHA:71272
Intellectual Developmental Disorder, Autosomal Dominant 65	Agenesis of corpus callosum, Noncommunicating hydrocephalus, Ataxia	OMIM:619320
Monosomy 18Q	Aortic valve stenosis, Secondary growth hormone deficiency, Secundum atrial septal defect, Pulmon...	ORPHA:1600
Tarp Syndrome	Tetralogy of Fallot, Athetosis, Subdural hemorrhage	OMIM:311900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Ventriculomegaly, Hydrocephalus	OMIM:616538
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Lateral ventricle dilatation	OMIM:618367
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
Pheochromocytoma	Congestive heart failure, Positive regitine blocking test, Renal artery stenosis, Episodic hypert...	OMIM:171300
H Syndrome	Hypogonadism, Decreased testicular size, Azoospermia, Amenorrhea, Delayed puberty, Hydrocephalus,...	ORPHA:168569
Townes-Brocks Syndrome 2	Bifid uterus, Spina bifida occulta, Rectovaginal fistula, Hypospadias	OMIM:617466
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus	OMIM:620157
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Chromosome 6Pter-P24 Deletion Syndrome	Tetralogy of Fallot, Agenesis of corpus callosum, Telangiectasia, Hydrocephalus, Patent ductus ar...	OMIM:612582
Acrodysostosis 1 With Or Without Hormone Resistance	Irregular menstruation, Elevated circulating parathyroid hormone level, Elevated circulating thyr...	OMIM:101800
Pseudo-Torch Syndrome 3	Hypertension, Cerebral hemorrhage	OMIM:618886
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Aqueductal steno...	OMIM:306955
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Gastrointestinal hemorrhage, Arteriovenous malformation, Pulmonary embolism, Subcutaneous hemorrh...	ORPHA:394
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle branch block, Hemoth...	ORPHA:99827
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Pagod Syndrome	Hypoplastic left heart, Abnormality of the uterus, Abnormal morphology of female internal genital...	ORPHA:991
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Arteriovenous malformation, Tetralogy of Fallot, Portal hypertension...	ORPHA:974
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Hypertension, Lateral ventricle dilatation, Congestive heart failure	OMIM:181270
Whipple Disease	Hypotension, Gastrointestinal hemorrhage, Hydrocephalus, Ataxia, Myocarditis, Myocardial infarcti...	ORPHA:3452
Endocrine-Cerebroosteodysplasia	Small scrotum, Ventriculomegaly, Microphallus, Cryptorchidism, Ambiguous genitalia, Adrenal hypop...	OMIM:612651
Czeizel-Losonci Syndrome	Myelomeningocele, Hypoplastic nipples, Hydrocephalus, Dextrocardia, Spina bifida, Spina bifida oc...	ORPHA:2437
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Colpocephaly, Agenesis of corpus callosum	OMIM:609053
Walker-Warburg Syndrome	Ventriculomegaly, Cryptorchidism, Hydrocephalus, Hypoplasia of penis, Dandy-Walker malformation	ORPHA:899
Jacobsen Syndrome	Annular pancreas, Cryptorchidism, Ventricular septal defect, Labial hypoplasia, Atrial septal def...	OMIM:147791
Neurooculorenal Syndrome	Ectopic posterior pituitary, Ventriculomegaly, Central hypothyroidism, Decreased circulating ACTH...	OMIM:620305
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Lateral ventricle dilatation, Patent ductus arteriosus	OMIM:300868
Ciliary Dyskinesia, Primary, 19	Situs inversus totalis, Male infertility	OMIM:614935
Meckel Syndrome, Type 6	Occipital encephalocele, Absent gallbladder, Hydrocephalus, Abnormal internal genitalia, Anenceph...	OMIM:612284
Craniopharyngioma	Increased circulating prolactin concentration, Hypogonadism, Hypopituitarism, Central adrenal ins...	ORPHA:54595
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Thrombocytopenia-Absent Radius Syndrome	Tetralogy of Fallot, Aplasia of the uterus, Abnormal cardiac septum morphology	ORPHA:3320
Choreoacanthocytosis	Dilated cardiomyopathy, Falls, Lateral ventricle dilatation, Loss of ambulation, Head titubation,...	ORPHA:2388
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy...	OMIM:157640
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Lateral ventricle dilatation, Tetralogy of Fallot, Agenesis of corpus callosum, Coarctation of ao...	OMIM:210710
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Situs inversus totalis, Male infertility	OMIM:244400
Joubert Syndrome With Ocular Defect	Encephalocele, Agenesis of corpus callosum, Gait disturbance, Hydrocephalus, Ataxia	ORPHA:220493
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:459061
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Aortic root aneurysm, Congestive heart failure, Aortic atherosclerotic les...	ORPHA:363618
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Truncus ...	OMIM:601186
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Abnormal morphology of female internal genitalia	ORPHA:1834
Vacterl With Hydrocephalus	Cryptorchidism, Abnormal fallopian tube morphology, Hydrocephalus, Spina bifida, Aqueductal stenosis	ORPHA:3412
Lateral Meningocele Syndrome	Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Hydrocephalus, Meningocele	OMIM:130720
Glycogen Storage Disease Ii	Sinus tachycardia, Dilatation of the cerebral artery, Difficulty walking, Shortened PR interval, ...	OMIM:232300
Joubert Syndrome	Encephalocele, Gait disturbance, Hydrocephalus, Ataxia	ORPHA:475
Amed Syndrome, Digenic	Hypoplasia of the uterus, Adrenal hypoplasia	OMIM:619151
Methylmalonic Acidemia With Homocystinuria Type Cblf	Lethargy, Intraventricular hemorrhage	ORPHA:79284
Desmosterolosis	Total anomalous pulmonary venous return, Ventriculomegaly, Ambiguous genitalia, female, Ambiguous...	OMIM:602398
Thanatophoric Dysplasia Type 1	Ventriculomegaly, Hydrocephalus	ORPHA:1860
Acromesomelic Dysplasia 3	Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone...	OMIM:609441
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Irregular menstruation, Hydrocephalus, Uterine leiomyoma	OMIM:616482
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Progressive ventriculomegaly, Ventriculomegaly, Lateral ventricle dilatation, Transient ischemic ...	ORPHA:500150
Popliteal Pterygium Syndrome	Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Spina bifida occulta, Hyp...	OMIM:119500
Gorlin Syndrome	Cryptorchidism, Cardiac fibroma, Hypogonadotropic hypogonadism, Ovarian fibroma, Hydrocephalus	ORPHA:377
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hydrocephalus, Bifid scrotum, Cryptorchidism, Prominent scrotal raphe	ORPHA:1555
Hereditary Pheochromocytoma-Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:29072
Spondyloenchondrodysplasia	Vasculitis, Ventriculomegaly, Abnormal lateral ventricle morphology, Raynaud phenomenon, Hyperten...	ORPHA:1855
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Encephalocele, Transposition of the great arteries, Atrial septal defect,...	OMIM:253800
Sturge-Weber Syndrome	Pulmonary embolism, Abnormal cerebral vascular morphology, Conjunctival telangiectasia, Stroke, H...	ORPHA:3205
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Ventriculomegaly, Mitral stenosis, Agenesis of corpus callosum, Colpocephaly, Coarctation of aort...	OMIM:617260
Osteogenesis Imperfecta	Arterial dissection, Aortic regurgitation, Ventriculomegaly, Ataxia, Aortic root aneurysm, Aortic...	ORPHA:666
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility	ORPHA:2239
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect	ORPHA:268810
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Transposition of the great arteries, Hydrocephalus, Dextrocardia	OMIM:314390
Cockayne Syndrome Type 3	Vascular calcification, Aortic root aneurysm, Subdural hemorrhage, Premature coronary artery athe...	ORPHA:90324
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Agenesis of corpus callosum, Colpocephaly, Pulmonary artery atresia, Partial agenesis of the corp...	OMIM:620113
Fanconi Anemia, Complementation Group A	Abnormal heart morphology, Cryptorchidism, Hypergonadotropic hypogonadism, Male infertility	OMIM:227650
Thakker-Donnai Syndrome	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Communicatin...	ORPHA:1780
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Peho Syndrome	Ventriculomegaly, Hydrocephalus	ORPHA:2836
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus, Ataxia	ORPHA:2318
Menkes Disease	Gastrointestinal hemorrhage, Spontaneous hematomas, Arterial stenosis, Venous insufficiency, Vasc...	ORPHA:565
Gracile Bone Dysplasia	Hydrocephalus	OMIM:602361
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Clitoral hypertrophy, Dilated cardiomyopathy, Hypertrophic cardiomyopa...	ORPHA:2556
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Ventriculomegaly, Encephalocele, Hydrocephalus, Partial agenesis of the corpus callosum, Dandy-Wa...	OMIM:614643
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus	OMIM:259710
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Subarachnoid hemorrhage, Cerebral vasculitis	OMIM:243700
Lhermitte-Duclos Disease	Hydrocephalus, Ovarian neoplasm, Neoplasm of the thyroid gland	ORPHA:65285
Tetrasomy 5P	Heart murmur, Pulmonary arterial hypertension, Hydrocephalus, Congestive heart failure	ORPHA:3309
Meckel Syndrome	Situs inversus totalis, Cryptorchidism, Encephalocele, True hermaphroditism, Male pseudohermaphro...	ORPHA:564
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Hydrocephalus, Ventriculomegaly, Encephalocele, Agenesis of corpus callosum	OMIM:613150
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Increased CSF lactate, Intraventricular hemorrhage, Prolonged prothrombin time	OMIM:619055
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Gaucher Disease, Type Iiic	Aortic valve calcification, Mitral stenosis, Cardiomegaly, Mitral valve calcification, Hydrocephalus	OMIM:231005
Fanconi Anemia, Complementation Group D2	Annular pancreas, Abnormal heart morphology, Cryptorchidism, Hydrocephalus, Micropenis, Hypergona...	OMIM:227646
Isotretinoin-Like Syndrome	Aortic valve stenosis, Abnormal aortic arch morphology, Abnormality of the pulmonary veins, Conot...	ORPHA:2306
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Cryptorchidism, Abnormal cardiac septum morphology	ORPHA:250989
Kyphoscoliotic Ehlers-Danlos Syndrome	Subdural hemorrhage, Bruising susceptibility, Difficulty walking, Arterial rupture, Aortic aneury...	ORPHA:536545
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida, Waddling gait	ORPHA:2839
Dpagt1-Cdg	Inability to walk, Stroke-like episode, Akinesia, Ataxia, Prolonged QT interval, Intracranial hem...	ORPHA:86309
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Ventriculomegaly, Occipital meningocele, Hydrocephalus, Atrial septal defect, Micropenis, Anencep...	OMIM:616546
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Ventriculomegaly, Aplasia/hypoplasia of the uterus, Cryptorchidism, Ventri...	ORPHA:96121
Meningioma	Difficulty walking, Cerebral hemorrhage, Syncope, Hydrocephalus, Ataxia	ORPHA:2495
Crouzon Syndrome	Hydrocephalus, Dysgerminoma	OMIM:123500
Chromosome 1P36 Deletion Syndrome, Distal	Dilated cardiomyopathy, Aortic root aneurysm, Lateral ventricle dilatation, Tetralogy of Fallot, ...	OMIM:607872
Idiopathic Hypereosinophilic Syndrome	Dilated cardiomyopathy, Pulmonary embolism, Congestive heart failure, Transient ischemic attack, ...	ORPHA:3260
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev...	OMIM:261740
Cardiofaciocutaneous Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cryptorchidism, Atrial septal defec...	ORPHA:1340
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Subdural hemorrhage, Cerebral hemorrhage	OMIM:620278
Iniencephaly	Spinal dysraphism, Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, Holoprosencephal...	ORPHA:63259
Coccidioidomycosis	Increased CSF protein concentration, Abnormality of the male genitalia, Hypoglycorrhachia, Abnorm...	ORPHA:228123
16Q24.3 Microdeletion Syndrome	Ventriculomegaly, Colpocephaly, Dilated cardiomyopathy, Mitral regurgitation	ORPHA:261250
Acute Transverse Myelitis	Increased CSF protein concentration, Hypoglycorrhachia, Subarachnoid hemorrhage, Gait disturbance...	ORPHA:139417
Desmosterolosis	Ventriculomegaly, Ambiguous genitalia, Hydrocephalus, Anomalous pulmonary venous return	ORPHA:35107
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Hydrocephalus, Encephalocele	OMIM:224400
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, Ataxia	ORPHA:2720
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Beare-Stevenson Cutis Gyrata Syndrome	Ventriculomegaly, Bifid scrotum, Prominent scrotal raphe, Hypoplastic labia majora, Hydrocephalus...	OMIM:123790
Alexander Disease	Hypotension, Agenesis of corpus callosum, Gait disturbance, Hydrocephalus, Ataxia, Aqueductal ste...	ORPHA:58
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Intracranial hemorrhage, Hypertension	ORPHA:90795
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Waddling gait, Normal pressure hydrocephalus, Bradycardia	OMIM:620351
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Carotid artery occlusion, Aortic regurgitation, Shuffling gait, Atheroscle...	ORPHA:740
Autoinflammatory Disease, Systemic, X-Linked	Cerebral hemorrhage	OMIM:301081
Marfanoid-Progeroid-Lipodystrophy Syndrome	Aortic root aneurysm, Bruising susceptibility, Hydrocephalus, Hypertension, Lateral ventricular a...	OMIM:616914
Trisomy 8P	Annular pancreas, Tetralogy of Fallot, Abnormal left ventricle morphology, Cryptorchidism, Aplasi...	ORPHA:264450
Laurin-Sandrow Syndrome	Hydrocephalus, Cryptorchidism	ORPHA:2378
Hellp Syndrome	Hypotension, Internal hemorrhage, Prolonged prothrombin time, Cerebral hemorrhage	ORPHA:244242
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Ventriculomegaly, Hydrocephalus, Aplasia of the vagina	ORPHA:457284
Apert Syndrome	Ventriculomegaly, Cryptorchidism, Ventricular septal defect, Overriding aorta, Hydrocephalus, Vag...	OMIM:101200
Turner Syndrome Due To Structural X Chromosome Anomalies	Hypoplastic left heart, Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II d...	ORPHA:99413
Mosaic Monosomy X	Hypoplastic left heart, Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II d...	ORPHA:99228
Monosomy X	Hypoplastic left heart, Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II d...	ORPHA:99226
Turner Syndrome	Hypoplastic left heart, Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II d...	ORPHA:881
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Arteriosclerosis, Hydrocephalus, Ataxia	ORPHA:220295
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Ataxia	OMIM:608091
Multiple Sulfatase Deficiency	Hydrocephalus	ORPHA:585
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Portal hypertension, Gait disturbance, Hydrocephalus, Ataxia	ORPHA:1454
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aortic regurgitation, Bidirectional shunt, Pulmonary artery dilatation, Lateral ventricle dilatat...	OMIM:619534
Meckel Syndrome, Type 1	Ventriculomegaly, Occipital encephalocele, Abnormality of the uterus, Ambiguous genitalia, female...	OMIM:249000
Holoprosencephaly	Spinal dysraphism, Tetralogy of Fallot, Panhypopituitarism, Abnormal pulmonary valve morphology, ...	ORPHA:2162
Kabuki Syndrome 1	Hydrocephalus, Coarctation of aorta, Lateral ventricle dilatation	OMIM:147920
Hereditary Amyloidosis With Primary Renal Involvement	Hypogonadism, Oligozoospermia, Abnormal testis morphology, Primary testicular failure, Male infer...	ORPHA:85450
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Holoprosencephaly 7	Alobar holoprosencephaly, Semilobar holoprosencephaly, Panhypopituitarism, Fusion of the left and...	OMIM:610828
Sacral Defect With Anterior Meningocele	Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract	OMIM:600145
Mend Syndrome	Aortic valve stenosis, Abnormal heart morphology, Cryptorchidism, Hydrocephalus, Dandy-Walker mal...	ORPHA:401973
Congenital Disorder Of Glycosylation, Type Iim	Lateral ventricle dilatation	OMIM:300896
Otopalatodigital Syndrome Type 2	Abnormal heart valve morphology, Myelomeningocele, Encephalocele, Hydrocephalus, Abnormal cardiac...	ORPHA:90652
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Koolen-De Vries Syndrome Due To A Point Mutation	Ventriculomegaly, Cardiomyopathy, Agenesis of corpus callosum, Aortic aneurysm, Intraventricular ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Ventriculomegaly, Cardiomyopathy, Agenesis of corpus callosum, Aortic aneurysm, Intraventricular ...	ORPHA:363958
Short-Rib Thoracic Dysplasia 12	Patent foramen ovale, Ventricular septal defect, Hypoplastic nipples, Ambiguous genitalia, Hydroc...	OMIM:269860
Achondroplasia	Hydrocephalus	ORPHA:15
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Athetosis, Hydrocephalus	OMIM:239300
Riddle Syndrome	Telangiectasia, Conjunctival telangiectasia, Intraventricular hemorrhage, Gait disturbance, Ataxia	ORPHA:420741
Opitz-Kaveggia Syndrome	Abnormal heart morphology, Hydrocephalus, Hypospadias, Cryptorchidism	OMIM:305450
Microcephaly 20, Primary, Autosomal Recessive	Vaginal atresia, Hypoplasia of the uterus	OMIM:617914
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus	OMIM:259700
Chromosome 17P13.1 Deletion Syndrome	Hydrocele testis, Hydrocephalus, Spina bifida	OMIM:613776
Meckel Syndrome 12	Vaginal atresia, Hypoplasia of the uterus	OMIM:616258
Limb-Mammary Syndrome	Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ...	ORPHA:69085
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Ventriculomegaly, Cardiomyopathy, Agenesis of corpus callosum, Arrhythmia, Hydrocephalus, Heart b...	ORPHA:228308
Hydrolethalus Syndrome 1	Abnormal vagina morphology, Complete atrioventricular canal defect, Ventricular septal defect, An...	OMIM:236680
Apert Syndrome	Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:87
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Agenesis of corpus callosum,...	OMIM:614866
Basal Cell Nevus Syndrome 1	Cardiac rhabdomyoma, Cardiac fibroma, Ovarian carcinoma, Ovarian fibroma, Hydrocephalus, Spina bi...	OMIM:109400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Ventriculomegaly, Occipital encephalocele, Agenesis of corpus callosum, Hydrocephalus, Communicat...	OMIM:615287
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Ventriculomegaly, Occipital encephalocele, Cryptorchidism, Hydrocephalus, Hypoplastic male extern...	OMIM:236670
Phocomelia, Schinzel Type	Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism, Meningocele	ORPHA:2879
Acute Liver Failure	Hypotension, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Prol...	ORPHA:90062
Kabuki Syndrome	Precocious puberty, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Abnormal cardiac septum morp...	ORPHA:2322
Shprintzen-Goldberg Craniosynostosis Syndrome	Hydrocephalus, Cryptorchidism, Mitral valve prolapse	OMIM:182212
Marden-Walker Syndrome	Abnormal penis morphology, Situs inversus totalis, Ventricular septal defect, Abnormal anatomic l...	ORPHA:2461
Pontocerebellar Hypoplasia Type 7	Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am...	ORPHA:284339
Shprintzen-Goldberg Syndrome	Ventriculomegaly, Cryptorchidism, Abnormal aortic valve morphology, Mitral valve prolapse, Commun...	ORPHA:2462
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dilation of Virchow-Robin spaces, Retinal arteriolar tortuosity, Ischemic stroke, Corneal neovasc...	OMIM:175780
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula...	OMIM:245600
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypotension, Lethargy, Pulmonary arterial hypertension, Hydrocephalus, Bradycardia, Tachycardia, ...	OMIM:277400
Aymé-Gripp Syndrome	Ventriculomegaly, Breast hypoplasia, Cryptorchidism, Hydrocephalus, Pericardial effusion, Pericar...	ORPHA:1272
Vici Syndrome	Dilated cardiomyopathy, Abnormal posturing, Cardiomyopathy, Congestive heart failure, Agenesis of...	OMIM:242840
Unilateral Polymicrogyria	Stroke, Epistaxis, Abnormal posturing, Pulmonary arteriovenous malformation	ORPHA:268943
Fraser Syndrome 1	Clitoral hypertrophy, Abnormal heart morphology, Myelomeningocele, Cryptorchidism, Encephalocele,...	OMIM:219000
Fanconi Anemia, Complementation Group L	Micropenis, Aplasia of the uterus, Hydrocephalus	OMIM:614083
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Inability to walk...	ORPHA:505248
Smith-Lemli-Opitz Syndrome	Precocious puberty, Small scrotum, Bifid scrotum, Hypertrophic cardiomyopathy, Septate vagina, Cr...	OMIM:270400
Mucopolysaccharidosis, Type Ii	Hydrocephalus, Congestive heart failure	OMIM:309900
Rabin-Pappas Syndrome	Hydrocephalus, Retinal telangiectasia	OMIM:620155
Monosomy 9Q22.3	Ventriculomegaly, Ovarian fibroma, Hydrocephalus, Cardiac fibroma	ORPHA:77301
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Hypogonadism, External genital hypoplasia, Cryptorchidism, Hydrocephal...	ORPHA:2658
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Right bundle branch block, Hydrocephalus	OMIM:618590
Hyperparathyroidism, Transient Neonatal	Stroke, Ventriculomegaly, Communicating hydrocephalus, Patent ductus arteriosus	OMIM:618188
15Q Overgrowth Syndrome	Tricuspid regurgitation, Mitral regurgitation, Agenesis of corpus callosum, Pulmonary arterial hy...	ORPHA:314585
Carnitine Palmitoyltransferase Ii Deficiency	Arrhythmia, Hydrocephalus, Cardiomyopathy, Agenesis of corpus callosum	ORPHA:157
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Cardiomyopathy, Ataxia	OMIM:616084
Tetrasomy 9P	Absent gallbladder, Cryptorchidism, Abnormal mitral valve morphology, Patent foramen ovale, Hydro...	ORPHA:3310
Cousin Syndrome	Ambiguous genitalia, male, Ambiguous genitalia, female, Hydranencephaly, Hydrocephalus	OMIM:260660
22Q11.2 Deletion Syndrome	Cholelithiasis, Abnormality of the uterus, Tetralogy of Fallot, Abnormal pulmonary valve morpholo...	ORPHA:567
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Absent nipple, Hydrocephalus, Mitral valve prolapse	OMIM:104350
Mucopolysaccharidosis Type 1	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Hydrocephalus, Abnormal aortic valv...	ORPHA:579
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Neu-Laxova Syndrome 1	Ventriculomegaly, Hydranencephaly, Cryptorchidism, Patent foramen ovale, Ventricular septal defec...	OMIM:256520
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus, Decreased serum insulin-like growth factor 1, Annular pancreas, Atrial septal defect	OMIM:618162
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hydrocephalus, Aqueductal stenosis, Atrial septal defect, Cryptorchidism	OMIM:619512
Lymphangioleiomyomatosis	Hydrocephalus, Chylopericardium, Abnormal morphology of female internal genitalia	ORPHA:538
Lesch-Nyhan Syndrome	Testicular atrophy	OMIM:300322
Congenital Syphilis	Petechiae, Hydrocephalus, Myocarditis, Purpura, CSF pleocytosis	ORPHA:499009
Marshall-Smith Syndrome	Ventriculomegaly, Bilateral cryptorchidism, Cryptorchidism, Ventricular septal defect, Atrial sep...	OMIM:602535
Holoprosencephaly 13, X-Linked	Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Colpocephaly,...	OMIM:301043
Renal Cysts And Diabetes Syndrome	Maturity-onset diabetes of the young, Pancreatic hypoplasia, Pancreatic atrophy, Atretic vas defe...	OMIM:137920
Townes-Brocks Syndrome 1	Bifid scrotum, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Hypothyroidism, At...	OMIM:107480
Steinert Myotonic Dystrophy	Male hypogonadism, Cholelithiasis, Impotence, Dilated cardiomyopathy, Decreased response to growt...	ORPHA:273
Cerebrooculonasal Syndrome	Hydrocephalus, Ventriculomegaly, Encephalocele, Dandy-Walker malformation	OMIM:605627
Dubowitz Syndrome	Abnormal female external genitalia morphology, Cryptorchidism, Hydrocephalus, Hypoparathyroidism,...	ORPHA:235
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Sinus tachycardia, Cardiomyopathy, Tricuspid regurgitation, Mitral regurgita...	OMIM:253200
Orofaciodigital Syndrome I	Abnormal heart morphology, Myelomeningocele, Ovarian cyst, Hydrocephalus, Pancreatic cysts	OMIM:311200
Fraser Syndrome 3	Small scrotum, Hypoplasia of penis, Hydrocephalus	OMIM:617667
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Mend Syndrome	Aortic valve stenosis, Hydrocephalus, Cryptorchidism, Dandy-Walker malformation	OMIM:300960
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Decreased thalamic volume, Hypoglycorrhachia	ORPHA:168577
Hurler Syndrome	Aortic regurgitation, Hydrocephalus, Mitral regurgitation, Cardiomyopathy	OMIM:607014
Khan-Khan-Katsanis Syndrome	Ventriculomegaly, Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Colpoc...	OMIM:618460
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Micropenis, Decreased testicular size, Hypoplasia of the ovary, Hydrocephalus	OMIM:619321
Osteootohepatoenteric Syndrome	Hydrocephalus	OMIM:619377
Mucopolysaccharidosis, Type Vii	Abnormal heart valve morphology, Hydrocephalus, Cardiomyopathy	OMIM:253220
Mucopolysaccharidosis Type 3	Atrioventricular block, Ventriculomegaly, Reduced left ventricular ejection fraction, Loss of amb...	ORPHA:581
Acrofacial Dysostosis 1, Nager Type	Tetralogy of Fallot, Ventricular septal defect, Hydrocephalus, Aqueductal stenosis, Bicornuate ut...	OMIM:154400
Nelson Syndrome	Intracranial hemorrhage, Hypertension	ORPHA:199244
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Decreased response to growth hormone stimulation test, Hydrocephalus	OMIM:616007
Hurler Syndrome	Abnormal heart valve morphology, Endocardial fibroelastosis, Hydrocephalus, Cardiomyopathy	ORPHA:93473
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Ventriculomegaly, Broad-based gait, Azoospermia, Calcification of the aorta, Limb ataxia, Spontan...	ORPHA:2072
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Delayed puberty	OMIM:615866
Peters Plus Syndrome	Hypoplastic left heart, Ventriculomegaly, Congenital hypothyroidism, Cryptorchidism, Pulmonic ste...	ORPHA:709
Tetraamelia Syndrome 1	Absent external genitalia, Adrenal gland agenesis, Hydrocephalus, Vaginal atresia, Hypoplasia of ...	OMIM:273395
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Loss of ambulation, Unsteady gait, Patent ductus arteriosus, Cerebral hemorrhage	OMIM:616682
Osteopetrosis, Autosomal Recessive 5	Ventriculomegaly, Hydrocephalus	OMIM:259720
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Aortic root aneurysm, Bruising susceptibility, Stroke, Hydrocephalus, Thoracic aortic aneurysm, A...	ORPHA:536467
Chromosome 17Q12 Deletion Syndrome	Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus	OMIM:614527
Hajdu-Cheney Syndrome	Hydrocephalus, Hypospadias, Cryptorchidism, Ventricular septal defect	OMIM:102500
Mycophenolate Mofetil Embryopathy	Coarctation of aorta, Hydrocephalus, Agenesis of corpus callosum	ORPHA:268249
Thrombocytopenia-Absent Radius Syndrome	Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Aplasia of the ute...	OMIM:274000
Distal 22Q11.2 Microduplication Syndrome	Hydrocephalus, Tricuspid valve prolapse, Cryptorchidism, Ventricular septal defect	ORPHA:261337
Stromme Syndrome	Hydrocephalus, Agenesis of corpus callosum	OMIM:243605
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ...	OMIM:201750
Holoprosencephaly 9	Anterior pituitary agenesis, Alobar holoprosencephaly, Decreased response to growth hormone stimu...	OMIM:610829
Loeys-Dietz Syndrome 2	Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Arterial tor...	OMIM:610168
Cardiofaciocutaneous Syndrome 1	Hypertrophic cardiomyopathy, Hydrocephalus, Atrial septal defect, Pulmonic stenosis	OMIM:115150
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Inability to walk, Colpocephaly, Ataxia	OMIM:620083
Loeys-Dietz Syndrome 3	Aortic regurgitation, Aortic dissection, Bruising susceptibility, Arterial tortuosity, Tortuous c...	OMIM:613795
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Broad-based gait, Lateral ventricle dilatation, Hyphema, Tetralogy of Fall...	ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Broad-based gait, Lateral ventricle dilatation, Tetralogy of Fallot, Inabi...	ORPHA:261537
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Bifid uterus, Supernumerary nipple	ORPHA:1521
Osteogenesis Imperfecta, Type Xvii	Intraventricular hemorrhage	OMIM:616507
Yunis-Varon Syndrome	Clitoral hypertrophy, Cardiomyopathy, Tetralogy of Fallot, Cryptorchidism, Ventricular septal def...	ORPHA:3472
Achondroplasia	Hydrocephalus	OMIM:100800
Orofaciodigital Syndrome Ii	Hydrocephalus	OMIM:252100
Witteveen-Kolk Syndrome	Dysplastic corpus callosum, Ventriculomegaly, Intracranial hemorrhage	OMIM:613406
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Ventriculomegaly, Broad-based gait, Falls, Tip-toe gait, Congestive heart f...	OMIM:619475
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hypogonadism, Hydrocephalus, Bilateral cryptorchidism	ORPHA:3042
Fontaine Progeroid Syndrome	Small scrotum, Absent nipple, Abnormal heart morphology, Cryptorchidism, Bicuspid aortic valve, H...	OMIM:612289
Wolf-Hirschhorn Syndrome	Precocious puberty, Ventriculomegaly, Cryptorchidism, Ventricular septal defect, Aplasia of the u...	OMIM:194190
Viss Syndrome	Iliac artery aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Bruising susceptibility, ...	OMIM:619472
X-Linked Intellectual Disability, Snyder Type	Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism	ORPHA:3063
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Limb Body Wall Complex	Abnormal heart morphology, Myelomeningocele, Encephalocele, Ventricular septal defect, Atrial sep...	ORPHA:2369
Cryptococcosis	Prostatitis, Hydrocephalus	ORPHA:1546
Cockayne Syndrome A	Irregular menstruation, Ventriculomegaly, Hypogonadism, Cryptorchidism, Thymic hormone decreased,...	OMIM:216400
Okamoto Syndrome	Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Abnormal mi...	ORPHA:2729
Hajdu-Cheney Syndrome	Aortic valve stenosis, Mitral stenosis, Ventricular septal defect, Delayed puberty, Hydrocephalus...	ORPHA:955
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Subdural hemorrhage	OMIM:619714
Pseudoaminopterin Syndrome	Hydrocephalus, Cryptorchidism, Patent foramen ovale	ORPHA:221120
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Colpocephaly, Holoprosencephaly, Agenesis of corpus callosum	OMIM:618820
Myoectodermal Gonadal Dysgenesis Syndrome	Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Hypoplastic labia majora, Ele...	OMIM:618419
Neurofibromatosis, Type I	Renal artery stenosis, Hydrocephalus, Spina bifida, Aqueductal stenosis, Hypertension	OMIM:162200
Acrofacial Dysostosis, Cincinnati Type	Ventriculomegaly, Bilateral cryptorchidism, Biventricular hypertrophy, Partial atrioventricular c...	OMIM:616462
Osteopathia Striata With Cranial Sclerosis	Spina bifida occulta, Hydrocephalus, Partial agenesis of the corpus callosum, Patent ductus arter...	OMIM:300373
Raine Syndrome	Hydrocephalus	OMIM:259775
Campomelic Dysplasia	Spinal dysraphism, Abnormal heart morphology, Spina bifida, Hydrocephalus, Hypospadias, Sex reversal	OMIM:114290
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Ventriculomegaly, Communicating hydrocephalus, Gait ataxia	OMIM:617011
Peters-Plus Syndrome	Ventriculomegaly, Cryptorchidism, Ventricular septal defect, Hypoplastic labia majora, Hypoplasia...	OMIM:261540
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Aplasia of ...	OMIM:135900
Gaucher Disease	Aortic valve calcification, Cholelithiasis, Ventriculomegaly, Abnormal pericardium morphology, Ab...	ORPHA:355
Alobar Holoprosencephaly	Inability to walk, Agenesis of corpus callosum, Lethargy, Hydrocephalus, Abnormal heart rate vari...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Inability to walk, Agenesis of corpus callosum, Lethargy, Hydrocephalus, Abnormal heart rate vari...	ORPHA:93926
Lobar Holoprosencephaly	Inability to walk, Agenesis of corpus callosum, Lethargy, Hydrocephalus, Abnormal heart rate vari...	ORPHA:93924
Semilobar Holoprosencephaly	Inability to walk, Agenesis of corpus callosum, Lethargy, Hydrocephalus, Abnormal heart rate vari...	ORPHA:220386
Ehlers-Danlos Syndrome, Vascular Type	Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Mitral valve prolapse, Cervical ins...	OMIM:130050
6Q Terminal Deletion Syndrome	Colpocephaly, Gait ataxia, Dysmetria	ORPHA:75857
Full Nf2-Related Schwannomatosis	Unsteady gait, Myelopathy, Hydrocephalus	ORPHA:637
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Noonan Syndrome 1	Hypogonadism, Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular septal defect, Pulmonic st...	OMIM:163950
Chilton-Okur-Chung Neurodevelopmental Syndrome	Cryptorchidism, Patent foramen ovale, Mild fetal ventriculomegaly, Chordee, Anterior pituitary hy...	OMIM:619841
Loeys-Dietz Syndrome 1	Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Arterial tor...	OMIM:609192
Wiedemann-Rautenstrauch Syndrome	Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t...	ORPHA:3455
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Communicating hydrocephalus, Mitral regurgitation, Ataxia	ORPHA:309282
Microphthalmia With Limb Anomalies	Hydrocephalus, Cryptorchidism	ORPHA:1106
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Difficulty walking, Ventriculomegaly, Communicating hydrocephalus, Gait ataxia	ORPHA:457359
Autosomal Recessive Malignant Osteopetrosis	Hydrocephalus, Pulmonary artery stenosis, Pulmonary arterial hypertension, Bruising susceptibility	ORPHA:667
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Colpocephaly	ORPHA:477993
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Long penis, Enlarged labia minora, Cryptorchidism, Ventricular septal defec...	OMIM:268300
Mucopolysaccharidosis Type 2	Cardiomyopathy, Abnormal heart morphology, Abnormal heart valve morphology, Abnormal pulmonary va...	ORPHA:580
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Occipital meningocele, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced...	OMIM:276820
Neurofibromatosis Type 1	Precocious puberty, Pheochromocytoma, Cryptorchidism, Delayed puberty, Carcinoid tumor, Hydroceph...	ORPHA:636
Wiedemann-Rautenstrauch Syndrome	Long penis, Secundum atrial septal defect, Cryptorchidism, Hypoplasia of the thymus, Increased se...	OMIM:264090
Costello Syndrome	Ventriculomegaly, Hypertrophic cardiomyopathy, Arrhythmia, Hydrocephalus, Lymphangiectasis, Pulmo...	OMIM:218040
Norrie Disease	Uterine rupture, Cryptorchidism, Delayed puberty, Erectile dysfunction, Diabetes mellitus	ORPHA:649
Baller-Gerold Syndrome	Abnormal heart morphology, Perineal fistula, Hydrocephalus, Spina bifida occulta, Rectovaginal fi...	OMIM:218600
Cockayne Syndrome B	Micropenis, Cryptorchidism, Normal pressure hydrocephalus	OMIM:133540
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal heart morphology, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal...	ORPHA:363700
Focal Dermal Hypoplasia	Supernumerary nipple, Myelomeningocele, Cryptorchidism, Hypoplastic nipples, Labial hypoplasia, H...	OMIM:305600
Simpson-Golabi-Behmel Syndrome, Type 1	Total anomalous pulmonary venous return, Cardiomyopathy, Supernumerary nipple, Cryptorchidism, Pa...	OMIM:312870
Tuberous Sclerosis Complex	Pituitary adenoma, Pheochromocytoma, Cardiac rhabdomyoma, Parathyroid hyperplasia, Subependymal n...	ORPHA:805
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Vascular ring, Abnormal lateral ventricle morphology, Cardiac conduction a...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Vascular ring, Abnormal lateral ventricle morphology, Cardiac conduction a...	ORPHA:353277
Fetal Akinesia Deformation Sequence 1	Hydrocephalus, Cryptorchidism	OMIM:208150
Coffin-Siris Syndrome 12	Tetralogy of Fallot, Cryptorchidism, Patent foramen ovale, Hypothyroidism, Hypospadias, Noncommun...	OMIM:619325
Otopalatodigital Syndrome, Type Ii	Cryptorchidism, Hydrocephalus, Atrial septal defect, Spina bifida, Hypospadias	OMIM:304120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Hydrocephalus	OMIM:253280
Cystic Fibrosis	Absent vas deferens, Male infertility	ORPHA:586
Cystic Fibrosis	Cor pulmonale, Male infertility	OMIM:219700
Pallister-Killian Syndrome	Aortic valve stenosis, Small scrotum, Ventriculomegaly, Supernumerary nipple, Hypertrophic cardio...	OMIM:601803
Pmm2-Cdg	Hypertrophic cardiomyopathy, Angina pectoris, Ataxia, Intracranial hemorrhage, Dandy-Walker malfo...	ORPHA:79318
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Vascular Ehlers-Danlos Syndrome	Uterine rupture, Abnormal heart valve morphology, Cystocele, Cryptorchidism, Uterine prolapse, Mi...	ORPHA:286
Genitopatellar Syndrome	Colpocephaly, Agenesis of corpus callosum	OMIM:606170
Craniofacial Microsomia 1	Occipital encephalocele, Tetralogy of Fallot, Right aortic arch, Agenesis of corpus callosum, Coa...	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.

There is no histopathology data for Kif6

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 Kif6.

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

Title	Journal	IMPC Allele	PubMed ID
Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development.	PLoS genetics (November 2018)	Kif6^{tm1a(KOMP)Mbp}	PMC6307780

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MGI Allele	Allele Type	Produced
Kif6^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Kif6^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Kif6^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Kif6^{em1(IMPC)Ccpcz}	Exon Deletion	Mice

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

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Gene: Kif6 MGI:1098238

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Human diseases caused by Kif6 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data