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Gene: Kif19a MGI:2447024

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
kinesin family member 19A
Synonyms:
N-8 kinesin

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Kif19a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Kif19a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Tapered sperm head, Abnormal sperm he... OMIM:618433
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Delayed puberty, Primary amenorrhea OMIM:300604
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Male inf... OMIM:617091
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
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
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Abnormal respiratory motile cilium morphology OMIM:215520
Ciliary Dyskinesia, Primary, 13
Absent outer dynein arms, Absent inner dynein arms, Infertility OMIM:613193
Ciliary Dyskinesia, Primary, 11
Short stature, Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced... OMIM:612649
Ciliary Dyskinesia, Primary, 12
Short stature, Abnormal central microtubular pair morphology of respiratory motile cilia, Immotil... OMIM:612650
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Ciliary Dyskinesia, Primary, 6
Absent/shortened outer dynein arms, Abnormal respiratory motile cilium morphology OMIM:610852
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Ciliary Dyskinesia, Primary, 32
Infertility, Absent respiratory ciliary axoneme radial spokes OMIM:616481
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis, Immotile sperm, Infe... OMIM:613808
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility OMIM:619009
Hyperprolactinemia
Oligomenorrhea, Female infertility, Menorrhagia OMIM:615555
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Absent central microtubular pair morphology of respiratory motile cilia OMIM:620032
Ciliary Dyskinesia, Primary, 18
Absent inner dynein arms, Immotile sperm, Absent outer dynein arms, Male infertility OMIM:614874
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Ciliary Dyskinesia, Primary, 10
Abnormal respiratory motile cilium morphology OMIM:612518
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormal respiratory motile cilium morphology OMIM:225050
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Absent outer dynein arms OMIM:618300
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
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
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus OMIM:209970
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology ORPHA:922
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Hypoplasia of the uterus, Female infertility OMIM:617442
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Delayed puberty, Hydrocephalus, Short stature, Hypos... ORPHA:141333
Premature Ovarian Failure 6
Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia... OMIM:612310
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
46,Xy Sex Reversal 7
Hypoplasia of the fallopian tube, Streak ovary, Dysgerminoma, Abnormal epididymis morphology, Gon... OMIM:233420
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Ciliary Dyskinesia, Primary, 17
Dynein arm defect of respiratory motile cilia OMIM:614679
Ciliary Dyskinesia, Primary, 7
Abnormal axonemal organization of respiratory motile cilia OMIM:611884
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Ciliary Dyskinesia, Primary, 28
Dynein arm defect of respiratory motile cilia OMIM:615505
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Ciliary Dyskinesia, Primary, 38
Infertility, Absent inner and outer dynein arms OMIM:618063
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus, Hydrocephalus OMIM:258320
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus OMIM:166990
Premature Ovarian Failure 22
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:620548
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Ciliary Dyskinesia, Primary, 16
Absent outer dynein arms OMIM:614017
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Ciliary Dyskinesia, Primary, 2
Infertility, Nasal polyposis, Absent inner and outer dynein arms OMIM:606763
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Communicating hydrocephalus, Absent outer dynein arms, Male infertility OMIM:244400
Ciliary Dyskinesia, Primary, 19
Nasal polyposis, Male infertility, Absent inner and outer dynein arms OMIM:614935
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short stature, Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism ORPHA:2183
Ciliary Dyskinesia, Primary, 22
Infertility, Nasal polyposis, Reduced sperm motility, Absent inner and outer dynein arms OMIM:615444
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Biemond Syndrome Ii
Short stature, Hydrocephalus OMIM:210350
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Ovarian Dysgenesis 3
Female infertility, Delayed puberty, Aplasia of the ovary, Primary amenorrhea OMIM:614324
Ciliary Dyskinesia, Primary, 30
Nasal polyposis, Absent outer dynein arms OMIM:616037
1Q21.1 Microduplication Syndrome
Hypospadias, Hydrocephalus, Cryptorchidism ORPHA:250994
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Masa Syndrome
Short stature, Ventriculomegaly, Hydrocephalus OMIM:303350
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Short stature, Premature ovarian insufficiency, Mitochondrial hypertrophy, Female infertility OMIM:619518
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Functioning Gonadotropic Adenoma
Abnormality of the menstrual cycle, Decreased female libido, Ovarian cyst, Enlarged polycystic ov... ORPHA:91348
Premature Ovarian Failure 20
Female infertility, Secondary amenorrhea OMIM:619938
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Gómez-López-Hernández Syndrome
Short stature, Hydrocephalus ORPHA:1532
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Hydrocephalus, Cryptorchidism OMIM:601794
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele ORPHA:261102
Kleeblattschaedel
Hydrocephalus OMIM:148800
Temple Syndrome
Precocious puberty, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Short stature ORPHA:254516
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Diencephalic Syndrome
Long penis, Hydrocephalus ORPHA:1672
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Woodhouse-Sakati Syndrome
Hypogonadism, Decreased testicular size, Streak ovary, Delayed puberty, Abnormal spermatogenesis,... ORPHA:3464
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hypoplastic female external genitalia, Hydrocephalus, Cryptorchidism OMIM:618577
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Fried Syndrome
Hydrocephalus ORPHA:85335
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus OMIM:300886
Primary Ciliary Dyskinesia
Ventriculomegaly, Nasal polyposis, Female infertility, Abnormal sperm motility, Hydrocephalus, Ma... ORPHA:244
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Ventriculomegaly, Intrauterine growth retardation, Hydrocephalus OMIM:610333
Woodhouse-Sakati Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Premature ovarian insuffici... OMIM:241080
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus OMIM:619301
Aromatase Deficiency
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... ORPHA:91
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Hydrocephalus, Oligozoospermia, Micropenis, Macroorchidi... ORPHA:8
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... ORPHA:99429
Bresek Syndrome
Decreased testicular size, Intrauterine growth retardation, Cryptorchidism, Neonatal death, Hydro... ORPHA:85284
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Hypogonadism, Intrauterine growth retardation, Tracheoesophageal fistula, Hydro... OMIM:300514
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Cryptorchidism, Tracheoesophageal fistula, Hydrocephalus, Hypoplasia of penis, Holop... ORPHA:77298
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Short stature, Hydrocephalus OMIM:618174
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Short stature, Hypospadias OMIM:218350
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Increased CSF lactate, Intrauterine growth retardation, Increased CSF lysine co... OMIM:616034
Optic Pathway Glioma
Precocious puberty, Growth delay, Hydrocephalus ORPHA:2086
Congenital Toxoplasmosis
Ventriculomegaly, Intrauterine growth retardation, Hydrocephalus ORPHA:858
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Short stature, Hydrocephalus ORPHA:1516
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Abnormal vagina morphology, Streak ovary, Abnormal labia morphology, Abnorm... ORPHA:251510
Alexander Disease
Increased CSF protein concentration, Hydrocephalus OMIM:203450
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Hydrolethalus
Cryptorchidism, Tracheal atresia, Abnormal fallopian tube morphology, Hydrocephalus, Anencephaly ORPHA:2189
Temple Syndrome
Precocious puberty, Decreased testicular size, Intrauterine growth retardation, Cryptorchidism, H... OMIM:616222
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Premature ovarian insufficiency, Hypoplas... OMIM:110100
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Hydrocephalus ORPHA:251915
Radial Aplasia, X-Linked
Penile hypospadias, Hydrocephalus OMIM:312190
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Short stature, Hydrocephalus, Cryptorchidism ORPHA:2701
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Intrauterine growth retardation, Hydrocephalus ORPHA:272
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Pallister-Hall-Like Syndrome
Short stature, Micropenis, Occipital encephalocele, Hydrocephalus OMIM:241800
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Tracheal stenosis, Growth delay, Hypoplasia of penis, Dandy-Walker malformation OMIM:601427
Williams-Beuren Region Duplication Syndrome
Short stature, Ventriculomegaly, Hydrocephalus, Cryptorchidism OMIM:609757
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Hydrocephalus, Cervicitis, Dandy-Wa... ORPHA:722
Tetraamelia Syndrome 1
Vaginal atresia, Absent external genitalia, Hydrocephalus, Hypoplasia of the fallopian tube OMIM:273395
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Hydrocephalus OMIM:304100
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus OMIM:614120
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Micropenis, Hypospadias, Hydrocephalus, Cryptorchidism ORPHA:171839
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Severe short stature, Irregular menstruation, Rhizomelia, Disproportionate short stature, Neonata... OMIM:616482
Triploidy
Intrauterine growth retardation, Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Meningocele,... ORPHA:3376
Rhombencephalosynapsis
Ventriculomegaly, Tracheoesophageal fistula, Hydrocephalus, Abnormality of the uterus ORPHA:59315
Ciliary Dyskinesia, Primary, 20
Decreased fertility, Absent outer dynein arms OMIM:615067
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Transverse vaginal septum, Vagina... ORPHA:65681
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus OMIM:248000
Thanatophoric Dysplasia Type 2
Ventriculomegaly, Encephalocele, Hydrocephalus, Short stature, Holoprosencephaly ORPHA:93274
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Diabetic Embryopathy
Spinal dysraphism, Abnormal morphology of female internal genitalia, Cryptorchidism, Hydrocephalu... ORPHA:1926
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Intellectual Developmental Disorder, X-Linked 30
Short stature, Hydrocephalus OMIM:300558
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus OMIM:602501
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
Axial Mesodermal Dysplasia Spectrum
Short stature, Tracheoesophageal fistula, Hydrocephalus, Abnormal morphology of female internal g... ORPHA:1834
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Hypospadias, Hydrocephalus, Cryptorchidism OMIM:175700
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Genitopalatocardiac Syndrome
Intrauterine growth retardation, Cryptorchidism, Male pseudohermaphroditism, Gonadal dysgenesis, ... ORPHA:2075
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Intrauterine growth retardation, Hydrocephalus ORPHA:1914
Thanatophoric Dysplasia
Ventriculomegaly, Intrauterine growth retardation, Disproportionate short-limb short stature, Hyd... ORPHA:2655
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Intrauterine growth retardation, Encephalocele, Hydrocephalus, Short stature, ... ORPHA:1908
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus ORPHA:2182
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613153
Metatropic Dysplasia
Severe short stature, Hydrocephalus ORPHA:2635
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Decreased testicular size, Decreased fertility, Cryptorchidism, Dysmeno... ORPHA:90796
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Mirage Syndrome
Microphallus, Decreased testicular size, Intrauterine growth retardation, Cryptorchidism, Hydroce... OMIM:617053
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short stature, Intrauterine growth retardation, Rhizomelia, Hydrocephalus OMIM:300863
Emanuel Syndrome
Ventriculomegaly, Hypogonadism, Intrauterine growth retardation, Cryptorchidism, Hydrocephalus, M... ORPHA:96170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus OMIM:613155
Vacterl With Hydrocephalus
Intrauterine growth retardation, Cryptorchidism, Tracheoesophageal fistula, Abnormal fallopian tu... ORPHA:3412
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Ritscher-Schinzel Syndrome 1
Intrauterine growth retardation, Hypospadias, Hydrocephalus, Dandy-Walker malformation OMIM:220210
Houge-Janssens Syndrome 1
Ventriculomegaly, Intrauterine growth retardation, Hydrocephalus OMIM:616355
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Vacterl/Vater Association
Hypospadias, Occipital encephalocele, Bifid scrotum, Abnormal morphology of female internal genit... ORPHA:887
Amelocerebrohypohidrotic Syndrome
Short stature, Hydrocephalus ORPHA:1946
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Wa... OMIM:611134
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Ventriculomegaly, Dilated third ventricle, Hypogonadism, Cryptorchidism, Micropenis, Hydrocephalu... ORPHA:500055
Tetraamelia-Multiple Malformations Syndrome
Vaginal atresia, Tracheal stenosis, Hydrocephalus, Cryptorchidism ORPHA:3301
Nasu-Hakola Disease
Ventriculomegaly, Hydrocephalus ORPHA:2770
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Short stature, Ventriculomegaly, Hydrocephalus OMIM:109120
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydranencephaly, Intrauterine growth retardation, Hydrocephalus, Dandy-Walker m... OMIM:225790
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Acrodysostosis 1 With Or Without Hormone Resistance
Irregular menstruation, Disproportionate short-limb short stature, Hypogonadism, Intrauterine gro... OMIM:101800
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Short stature, Ventriculomegaly, Hydrocephalus OMIM:615630
Fraser Syndrome 3
Small scrotum, Tracheal atresia, Hydrocephalus, Stillbirth, Hypoplasia of penis OMIM:617667
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Methylcobalamin Deficiency Type Cble
Postnatal growth retardation, Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly ORPHA:2169
3C Syndrome
Ventriculomegaly, Postnatal growth retardation, Hydrocephalus, Short stature, Hypoplasia of penis... ORPHA:7
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Ambiguous genitalia, Cryptorchidism ORPHA:1237
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Intrauterine growth retardation, Colpocephaly, Hydrocephalus, Short stature OMIM:619833
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Bifid scrotum, Postnatal growth retardation, Intrauterine growth retardation, C... OMIM:257300
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Intrauterine growth retardation, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:612938
Peroxisome Biogenesis Disorder 12A (Zellweger)
Short stature, Abnormality of the male genitalia, Growth delay, Hydrocephalus OMIM:614886
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia, Neonatal death OMIM:601612
Krabbe Disease
Increased CSF protein concentration, Hydrocephalus OMIM:245200
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Female infertility, Streak ovary, Decreased fertility, Polycystic ovaries, Oligomenorrhea, Premat... ORPHA:572333
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short stature, Intrauterine growth retardation, Rhizomelia, Hydrocephalus ORPHA:163966
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:310400
H Syndrome
Hypogonadism, Decreased testicular size, Azoospermia, Amenorrhea, Delayed puberty, Hydrocephalus,... ORPHA:168569
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus, Hydrocephalus ORPHA:2736
Microcephaly 30, Primary, Autosomal Recessive
Tracheal stenosis, Ventriculomegaly, Intrauterine growth retardation OMIM:620183
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Disproportionate short-trunk short stature, Hydrocephalus OMIM:613330
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Ovotestis, Chordee, Colpocephaly, Micropenis, Hydrocephalus, Short stature,... OMIM:309801
Emanuel Syndrome
Ventriculomegaly, Intrauterine growth retardation, Cryptorchidism, Hydrocephalus, Micropenis, Dan... OMIM:609029
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Absent Radius-Anogenital Anomalies Syndrome
Rectovaginal fistula, Hydrocephalus, Perineal fistula ORPHA:3016
Coach Syndrome 2
Hydrocephalus OMIM:619111
Oxoglutaric Aciduria
Short stature, Hydrocephalus ORPHA:31
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Pelvis-Shoulder Dysplasia
Hydranencephaly, Mesomelic/rhizomelic limb shortening, Neonatal short-trunk short stature, Ambigu... ORPHA:2839
Thanatophoric Dysplasia, Type I
Disproportionate short-limb short stature, Hydrocephalus, Lethal short-limbed short stature, Neon... OMIM:187600
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Colpocephaly, Growth delay, Hydrocephalus OMIM:620156
Trisomy 17P
Intrauterine growth retardation, Hydrocephalus, Short stature, Hypoplasia of penis, Growth delay ORPHA:261290
Chiari Malformation Type Ii
Myelomeningocele, Cervical myelopathy, Hydrocephalus, Spina bifida OMIM:207950
Cole-Carpenter Syndrome 2
Short stature, Postnatal growth retardation, Hydrocephalus OMIM:616294
Houge-Janssens Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:616362
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Tracheoesophageal fistula, Hydrocephalus, Neonatal death OMIM:314390
Trisomy 1Q
Small scrotum, Ventriculomegaly, Cryptorchidism, Ambiguous genitalia, Hydrocephalus ORPHA:261344
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Gracile Bone Dysplasia
Short stature, Micropenis, Hydrocephalus OMIM:602361
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus ORPHA:370959
Lowry-Maclean Syndrome
Growth delay, Bilateral cryptorchidism, Intrauterine growth retardation, Hydrocephalus, Hypospadias ORPHA:2409
Craniopharyngioma
Hypogonadism, Postnatal growth retardation, Proportionate short stature, Hypogonadotropic hypogon... ORPHA:54595
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Congenital Disorder Of Glycosylation, Type Iil
Ventriculomegaly, Intrauterine growth retardation, Growth delay, Hydrocephalus OMIM:614576
Tetrasomy 15Q26
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation OMIM:614846
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Albers-Schönberg Osteopetrosis
Short stature, Hydrocephalus ORPHA:53
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation ORPHA:1647
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
1Q44 Microdeletion Syndrome
Short stature, Ventriculomegaly, Growth delay, Hydrocephalus ORPHA:238769
Nephronophthisis 18
Hydrocephalus OMIM:615862
Cole-Carpenter Syndrome 1
Short stature, Communicating hydrocephalus, Hydrocephalus OMIM:112240
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Vaginal atresia, Hypoplastic labia majora, Fused labia minora, Hydrocephalus OMIM:207410
Thoracic Dysplasia-Hydrocephalus Syndrome
Short stature, Communicating hydrocephalus ORPHA:1861
Pontocerebellar Hypoplasia, Type 7
Ventriculomegaly, Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Micropenis OMIM:614969
Czeizel-Losonci Syndrome
Myelomeningocele, Tracheoesophageal fistula, Hydrocephalus, Spina bifida, Spina bifida occulta ORPHA:2437
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal male external genitalia morphology, Abnormal ovarian morphology, Increased size of the c... ORPHA:95699
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Griscelli Syndrome
Short stature, Hydrocephalus, Encephalocele ORPHA:381
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele ORPHA:2119
Multiple Sulfatase Deficiency
Short stature, Increased CSF protein concentration, Ventriculomegaly, Hydrocephalus OMIM:272200
Hemangioblastoma
Hydrocephalus ORPHA:252054
Crouzon Syndrome
Hydrocephalus ORPHA:207
Alkuraya-Kucinskas Syndrome
Small scrotum, Ventriculomegaly, Hydrocephalus, Micropenis, Dandy-Walker malformation OMIM:617822
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Thakker-Donnai Syndrome
Rectovaginal fistula, Intrauterine growth retardation, Tracheoesophageal fistula, Communicating h... ORPHA:1780
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Fanconi Anemia, Complementation Group L
Intrauterine growth retardation, Aplasia of the uterus, Tracheoesophageal fistula, Hydrocephalus,... OMIM:614083
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Pseudotrisomy 13 Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Micropenis, Holoprosencephaly, Bicornuate uterus OMIM:264480
Axenfeld-Rieger Syndrome, Type 2
Hypospadias, Hydrocephalus, Cryptorchidism OMIM:601499
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus, Polycystic ovaries ORPHA:2969
Distal Triplication 15Q
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation, Hydrocele testis, Abno... ORPHA:314588
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Congenital Respiratory-Biliary Fistula
Tracheal stenosis ORPHA:2040
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Growth delay, Dandy-Walker malformation OMIM:614424
Fanconi Anemia
Hypospadias, Ventriculomegaly, Abnormality of the uterus, Hypogonadism, Intrauterine growth retar... ORPHA:84
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Ventriculomegaly, Disproportionate short stature, Abnormal female external ge... ORPHA:2637
Walker-Warburg Syndrome
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Hypoplasia of penis, Dandy-Walker malformation ORPHA:899
Desmosterolosis
Severe short stature, Ventriculomegaly, Intrauterine growth retardation, Ambiguous genitalia, Hyd... ORPHA:35107
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Hydrocephalus, Encephalocele, Cryptorchidism ORPHA:1865
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Endocrine-Cerebroosteodysplasia
Small scrotum, Ventriculomegaly, Microphallus, Cryptorchidism, Ambiguous genitalia, Hydrocephalus... OMIM:612651
Desmosterolosis
Ventriculomegaly, Rhizomelia, Ambiguous genitalia, female, Ambiguous genitalia, male, Hydrocephalus OMIM:602398
Oeis Complex
Myelomeningocele, Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitali... OMIM:258040
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Colpocephaly, Communicating hydrocephalus, Hydrocephalus OMIM:615219
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Micropenis, Hydrocephalus, Cryptorchidism OMIM:619951
Thanatophoric Dysplasia Type 1
Ventriculomegaly, Hydrocephalus, Lethal short-limbed short stature ORPHA:1860
Fg Syndrome Type 1
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Short stature, Hypospadias ORPHA:93932
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus OMIM:614195
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Ventriculomegaly, Hydrocephalus, Cryptorchidism ORPHA:1812
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventriculomegaly, Hydrocephalus OMIM:603387
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Short stature, Hydrocephalus, Dandy-Walker malformation ORPHA:459061
Arachnoiditis
Hydrocephalus ORPHA:137817
Fanconi Anemia, Complementation Group R
Growth delay, Hydrocephalus OMIM:617244
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Severe short stature, Hydrocephalus, Neonatal short-limb short stature, Encephalocele OMIM:224400
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Meckel Syndrome, Type 6
Abnormal internal genitalia, Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Exstrophy-Epispadias Complex
Penoscrotal transposition, Male sexual dysfunction, Female sexual dysfunction, Bifid scrotum, Cys... ORPHA:322
Crouzon Syndrome
Hydrocephalus, Dysgerminoma OMIM:123500
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Intrauterine growth retardation, Growth delay, Lateral ventricle dilatation OMIM:612863
Tetrasomy 5P
Postnatal growth retardation, Hydrocephalus ORPHA:3309
Spondylocostal Dysostosis 4, Autosomal Recessive
Short stature, Spina bifida occulta, Myelomeningocele, Hydrocephalus OMIM:613686
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:60040
Cutis Laxa, Autosomal Recessive, Type Iib
Intrauterine growth retardation, Hydrocephalus OMIM:612940
Pettigrew Syndrome
Aqueductal stenosis, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:304340
Lhermitte-Duclos Disease
Ovarian neoplasm, Hydrocephalus ORPHA:65285
Achondroplasia
Rhizomelia, Disproportionate short stature, Hydrocephalus ORPHA:15
Cerebrooculonasal Syndrome
Ventriculomegaly, Postnatal growth retardation, Encephalocele, Hydrocephalus, Hypoplastic male ex... OMIM:605627
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Prominent scrotal raphe, Hydrocephalus, Cryptorchidism ORPHA:1555
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Ventriculomegaly, Postnatal growth retardation, Tracheal stenosis, Dandy-Walker malfo... OMIM:302960
Beare-Stevenson Cutis Gyrata Syndrome
Ventriculomegaly, Bifid scrotum, Prominent scrotal raphe, Hypoplastic labia majora, Hydrocephalus... OMIM:123790
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:612582
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Tracheoesophageal fistula, Micropenis, Hydrocephalus, Short stature, Hypergonadot... OMIM:227646
Muenke Syndrome
Hydrocephalus ORPHA:53271
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal... OMIM:613154
Lateral Meningocele Syndrome
Short stature, Meningocele, Hydrocephalus, Cryptorchidism OMIM:130720
Mucopolysaccharidosis, Type Ii
Severe short stature, Hydrocephalus, Short stature, Mild short stature OMIM:309900
Mounier-Kühn Syndrome
Tracheal stenosis ORPHA:3347
Cousin Syndrome
Rhizomelia, Disproportionate short stature, Hydranencephaly, Ambiguous genitalia, female, Ambiguo... OMIM:260660
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Tracheoesophageal fistula ORPHA:93941
Jacobsen Syndrome
Intrauterine growth retardation, Cryptorchidism, Hydrocephalus, Labial hypoplasia, Holoprosenceph... OMIM:147791
Acquired Aneurysmal Subarachnoid Hemorrhage
Increased CSF lactate, Hydrocephalus, Hyperglycorrhachia ORPHA:90065
Multiple Sulfatase Deficiency
Short stature, Hydrocephalus ORPHA:585
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Dubowitz Syndrome
Abnormal female external genitalia morphology, Postnatal growth retardation, Intrauterine growth ... ORPHA:235
Turner Syndrome Due To Structural X Chromosome Anomalies
Female infertility, Abnormality of the ovary, Postnatal growth retardation, Intrauterine growth r... ORPHA:99413
Turner Syndrome
Female infertility, Abnormality of the ovary, Postnatal growth retardation, Intrauterine growth r... ORPHA:881
Mosaic Monosomy X
Female infertility, Abnormality of the ovary, Postnatal growth retardation, Intrauterine growth r... ORPHA:99228
Monosomy X
Female infertility, Abnormality of the ovary, Postnatal growth retardation, Intrauterine growth r... ORPHA:99226
Short-Rib Thoracic Dysplasia 12
Intrauterine growth retardation, Neonatal death, Ambiguous genitalia, Hydrocephalus, Holoprosence... OMIM:269860
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Choroid plexus cyst, Hydrocephalus OMIM:617866
Plasminogen Deficiency, Type I
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:217090
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
7Q11.23 Microduplication Syndrome
Hypospadias, Ventriculomegaly, Aplasia/hypoplasia of the uterus, Cryptorchidism, Hydrocephalus, S... ORPHA:96121
Joubert Syndrome 2
Hydrocephalus, Enlarged fossa interpeduncularis, Hypoplastic male external genitalia, Encephalocele OMIM:608091
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Tracheal stenosis, Cryptorchidism, Micropenis, Hydrocephalus, Short stature, Hypospadias ORPHA:163979
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:613001
Hydrolethalus Syndrome 1
Hypospadias, Abnormal vagina morphology, Tracheal stenosis, Intrauterine growth retardation, Stil... OMIM:236680
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Short stature, Communicating hydrocephalus ORPHA:1064
Hypomandibular Faciocranial Dysostosis
Tracheal stenosis, Abnormal morphology of female internal genitalia ORPHA:1790
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Whipple Disease
Erectile dysfunction, Hydrocephalus ORPHA:3452
Monosomy 18Q
Bilateral cryptorchidism, Micropenis, Hydrocephalus, Short stature, Growth delay ORPHA:1600
Osteopetrosis, Autosomal Recessive 5
Ventriculomegaly, Hydrocephalus, Stillbirth, Short stature, Growth delay OMIM:259720
Mucopolysaccharidosis, Type Vii
Severe short stature, Postnatal growth retardation, Short stature, Hydrocephalus OMIM:253220
1Q21.1 Microdeletion Syndrome
Short stature, Intrauterine growth retardation, Hydrocephalus, Cryptorchidism ORPHA:250989
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Holoprosencephaly... OMIM:619895
Coccidioidomycosis
Increased CSF protein concentration, Abnormality of the male genitalia, Hypoglycorrhachia, CSF ly... ORPHA:228123
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:618476
Apert Syndrome
Ventriculomegaly, Ovarian neoplasm, Hydrocephalus ORPHA:87
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Oculocerebral Hypopigmentation Syndrome, Preus Type
Short stature, Hydrocephalus ORPHA:2720
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Hydrocephalus OMIM:219730
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Decreased testicular size, Intrauterine growth retardation, Hypoplasia of the ovary, Micropenis, ... OMIM:619321
Cole-Carpenter Syndrome
Short stature, Intrauterine growth retardation, Communicating hydrocephalus ORPHA:2050
Gorlin Syndrome
Hypogonadotropic hypogonadism, Ovarian fibroma, Hydrocephalus, Cryptorchidism ORPHA:377
Tenorio Syndrome
Ventriculomegaly, Hydrocephalus OMIM:616260
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Ventriculomegaly, Hydrocephalus, Aplasia of the vagina ORPHA:457284
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Ventriculomegaly, Hydrocele testis, Hydrocephalus OMIM:613603
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Hypoplasia of penis, Holoprose... ORPHA:2166
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus, Neonatal death OMIM:620351
Isotretinoin-Like Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Hydrocephalus ORPHA:2306
Peho Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:2836
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Intrauterine growth retardation, Hydrocephalus OMIM:616914
Pentalogy Of Cantrell
Hypospadias, Hydrocephalus, Anencephaly, Encephalocele ORPHA:1335
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Chromosome 17P13.1 Deletion Syndrome
Hydrocele testis, Hydrocephalus, Spina bifida OMIM:613776
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Icf Syndrome
Short stature, Communicating hydrocephalus ORPHA:2268
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Encephalocele ORPHA:2318
Lenz-Majewski Hyperostotic Dwarfism
Severe short stature, Abnormal penis morphology, Hypogonadism, External genital hypoplasia, Crypt... ORPHA:2658
Iniencephaly
Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, Holo... ORPHA:63259
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Ventriculomegaly, Occipital encephalocele, Cryptorchidism, Hydrocephalus, Hypoplastic male extern... OMIM:236670
Apert Syndrome
Ventriculomegaly, Rhizomelic arm shortening, Cryptorchidism, Hydrocephalus, Vaginal atresia OMIM:101200
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Aymé-Gripp Syndrome
Ventriculomegaly, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Short stature ORPHA:1272
Joubert Syndrome With Renal Defect
Hydrocephalus, Encephalocele ORPHA:220497
Laurin-Sandrow Syndrome
Hydrocephalus, Cryptorchidism ORPHA:2378
Dextrocardia
Abnormal reproductive system morphology, Hydrocephalus ORPHA:1666
Meckel Syndrome, Type 1
Ventriculomegaly, Occipital encephalocele, Abnormality of the uterus, Ambiguous genitalia, female... OMIM:249000
Neurooculorenal Syndrome
Ventriculomegaly, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Aqueductal stenosis OMIM:620305
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Ventriculomegaly, Hydrocephalus OMIM:616538
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Ventriculomegaly, Occipital meningocele, Hydrocephalus, Micropenis, Anencephaly OMIM:616546
Joubert Syndrome
Hydrocephalus, Encephalocele ORPHA:475
Hereditary Cryohydrocytosis With Reduced Stomatin
Short stature, Postnatal growth retardation, Communicating hydrocephalus, Hypoglycorrhachia ORPHA:168577
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Postnatal growth retardation, Lateral ventricle dilatation ORPHA:300570
Hurler-Scheie Syndrome
Short stature, Tracheal stenosis, Growth delay OMIM:607015
Cockayne Syndrome A
Irregular menstruation, Ventriculomegaly, Hypogonadism, Intrauterine growth retardation, Cryptorc... OMIM:216400
Pituitary Deficiency Due To Rathke Cleft Cysts
Hypogonadotropic hypogonadism, Hydrocephalus ORPHA:91350
Microphthalmia With Linear Skin Defects Syndrome
Severe short stature, Hypospadias, Clitoral hypertrophy, Abnormal penis morphology, Male pseudohe... ORPHA:2556
Smith-Lemli-Opitz Syndrome
Precocious puberty, Hypospadias, Small scrotum, Bifid scrotum, Intrauterine growth retardation, S... OMIM:270400
Joubert Syndrome With Ocular Defect
Hydrocephalus, Encephalocele ORPHA:220493
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Short stature, Growth delay, Hydrocephalus OMIM:616007
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Cryptorchidism, Colpoceph... OMIM:620371
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Thoracoabdominal Syndrome
Hypospadias, Anencephaly, Hydrocephalus OMIM:313850
Cardiofaciocutaneous Syndrome
Short stature, Hydrocephalus, Cryptorchidism ORPHA:1340
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Holoprosencephaly, Encephalocele OMIM:253800
Adams-Oliver Syndrome
Hydrocephalus, Encephalocele ORPHA:974
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Opitz-Kaveggia Syndrome
Short stature, Hypospadias, Hydrocephalus, Cryptorchidism OMIM:305450
Dural Sinus Malformation
Myelopathy, Hydrocephalus ORPHA:97339
Jung Syndrome
Tracheal stenosis ORPHA:2321
Hyperparathyroidism, Transient Neonatal
Ventriculomegaly, Communicating hydrocephalus, Ovarian cyst OMIM:618188
Achondroplasia
Rhizomelia, Hydrocephalus, Neonatal short-limb short stature OMIM:100800
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Ventriculomegaly, Occipital encephalocele, Decreased testicular size, Hydrocephalus, Micropenis, ... OMIM:615287
Arachnoid Cyst
Hydrocephalus, Holoprosencephaly, Enlarged fossa interpeduncularis, Encephalocele ORPHA:2356
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Ventriculomegaly, Encephalocele, Dandy-Walker malformation OMIM:614643
Kabuki Syndrome
Precocious puberty, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Short stature, Hypoplasia of... ORPHA:2322
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short stature, Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Monosomy 9Q22.3
Ovarian fibroma, Ventriculomegaly, Hydrocephalus ORPHA:77301
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Short stature, Rhizomelia, Hydrocephalus OMIM:245600
Marden-Walker Syndrome
Severe short stature, Abnormal penis morphology, Growth delay, Intrauterine growth retardation, H... ORPHA:2461
Hurler Syndrome
Short stature, Hydrocephalus OMIM:607014
Meckel Syndrome
Encephalocele, Cryptorchidism, True hermaphroditism, Male pseudohermaphroditism, Ambiguous genita... ORPHA:564
Basal Cell Nevus Syndrome 1
Ovarian fibroma, Ovarian carcinoma, Hydrocephalus, Spina bifida OMIM:109400
Raine Syndrome
Short stature, Hydrocephalus, Neonatal death OMIM:259775
Alexander Disease
Precocious puberty, Aqueductal stenosis, Hydrocephalus ORPHA:58
Rabin-Pappas Syndrome
Hydrocephalus OMIM:620155
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Ventriculomegaly, Encephalocele OMIM:613150
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
15Q Overgrowth Syndrome
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation ORPHA:314585
Mucopolysaccharidosis Type 1
Short stature, Hydrocephalus ORPHA:579
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Short stature, Bilateral cryptorchidism, Hydrocephalus, Hypogonadism ORPHA:3042
Orofaciodigital Syndrome Ii
Short stature, Hydrocephalus OMIM:252100
Cardiofaciocutaneous Syndrome 1
Short stature, Hydrocephalus OMIM:115150
Pendred Syndrome
Tracheal stenosis ORPHA:705
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Short stature, Hydrocephalus ORPHA:220295
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus, Cryptorchidism OMIM:182212
Hurler Syndrome
Short stature, Growth delay, Hydrocephalus ORPHA:93473
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Tracheal stenosis, Hypospadias, Cryptorchidism OMIM:217980
Mycophenolate Mofetil Embryopathy
Tracheoesophageal fistula, Hydrocephalus ORPHA:268249
Acrofacial Dysostosis 1, Nager Type
Short stature, Aqueductal stenosis, Bicornuate uterus, Hydrocephalus OMIM:154400
Orofaciodigital Syndrome I
Short stature, Myelomeningocele, Hydrocephalus, Ovarian cyst OMIM:311200
Congenital Syphilis
Intrauterine growth retardation, Hydrocephalus, CSF pleocytosis ORPHA:499009
Otopalatodigital Syndrome Type 2
Myelomeningocele, Hydrocephalus, Hypospadias, Encephalocele ORPHA:90652
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ventriculomegaly, Hydrocephalus ORPHA:395
Holoprosencephaly
Spinal dysraphism, Encephalocele, Cryptorchidism, Hydrocephalus, Hypoplasia of penis, Holoprosenc... ORPHA:2162
Marshall-Smith Syndrome
Ventriculomegaly, Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Short stature OMIM:602535
Smith-Lemli-Opitz Syndrome
Hypospadias, Rhizomelia, Ventriculomegaly, Clitoral hypertrophy, Intrauterine growth retardation,... ORPHA:818
Stromme Syndrome
Hydrocephalus, Stillbirth OMIM:243605
Mend Syndrome
Short stature, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation ORPHA:401973
Mend Syndrome
Short stature, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Glutaryl-Coa Dehydrogenase Deficiency
Ventriculomegaly, Communicating hydrocephalus, Subependymal nodules ORPHA:25
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus ORPHA:1454
Brachytelephalangic Chondrodysplasia Punctata
Postnatal growth retardation, Tracheal stenosis, Proportionate short stature ORPHA:79345
Peters Plus Syndrome
Rhizomelia, Ventriculomegaly, Disproportionate short-limb short stature, Postnatal growth retarda... ORPHA:709
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Growth delay, Lateral ventricle dilatation OMIM:612301
Spondyloepimetaphyseal Dysplasia, Shohat Type
Severe short stature, Tracheal stenosis, Disproportionate short stature ORPHA:93352
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Hydrocephalus OMIM:618162
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Hydrocephalus, Cryptorchidism OMIM:619512
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Ventriculomegaly, Postnatal growth retardation, Cryptorchidism, Hydrocephalus... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Ventriculomegaly, Postnatal growth retardation, Cryptorchidism, Hydrocephalus... ORPHA:363958
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Craniofacioskeletal Syndrome
Intrauterine growth retardation, Tracheal stenosis, Cryptorchidism, Short stature, Hypospadias OMIM:300712
Wolf-Hirschhorn Syndrome
Precocious puberty, Hypospadias, Ventriculomegaly, Intrauterine growth retardation, Cryptorchidis... OMIM:194190
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Postnatal growth retardation, Hydrocephalus ORPHA:536467
Cryptococcosis
Prostatitis, Hydrocephalus ORPHA:1546
Mucopolysaccharidosis, Type Vi
Short stature, Disproportionate short-trunk short stature, Cervical myelopathy, Hydrocephalus OMIM:253200
Fraser Syndrome 1
Clitoral hypertrophy, Myelomeningocele, Encephalocele, Cryptorchidism, Micropenis, Hydrocephalus,... OMIM:219000
Lymphangioleiomyomatosis
Hydrocephalus, Abnormal morphology of female internal genitalia ORPHA:538
Holoprosencephaly 9
Alobar holoprosencephaly, Cryptorchidism, Micropenis, Hydrocephalus, Short stature, Holoprosencep... OMIM:610829
Hajdu-Cheney Syndrome
Short stature, Hypospadias, Hydrocephalus, Cryptorchidism OMIM:102500
Tracheobronchopathia Osteochondroplastica
Tracheal stenosis ORPHA:3348
Meningioma
Hypogonadotropic hypogonadism, Impotence, Hydrocephalus, Amenorrhea ORPHA:2495
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Ventriculomegaly, Hydrocephalus ORPHA:228308
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Ventriculomegaly, Azoospermia, Delayed puberty, Hydrocephalus, Growth delay ORPHA:2072
Kabuki Syndrome 1
Anoperineal fistula, Lateral ventricle dilatation, Postnatal growth retardation, Cryptorchidism, ... OMIM:147920
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Shprintzen-Goldberg Syndrome
Ventriculomegaly, Communicating hydrocephalus, Cryptorchidism ORPHA:2462
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Growth delay OMIM:616084
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Disproportionate short stature, Lateral ventricle dilatation, Intrauterine growth retardation, Cr... OMIM:210710
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... OMIM:610828
22Q11.2 Deletion Syndrome
Abnormality of the uterus, Intrauterine growth retardation, Cryptorchidism, Hydrocephalus, Spina ... ORPHA:567
Hajdu-Cheney Syndrome
Short stature, Hypospadias, Delayed puberty, Hydrocephalus ORPHA:955
Histiocytoid Cardiomyopathy
Hydrocephalus, Polycystic ovaries ORPHA:137675
Larsen Syndrome
Intrauterine growth retardation, Tracheal stenosis, Cryptorchidism, Short stature, Spina bifida o... OMIM:150250
Fontaine Progeroid Syndrome
Small scrotum, Intrauterine growth retardation, Cryptorchidism, Neonatal death, Hypoplastic labia... OMIM:612289
Tetrasomy 9P
Intrauterine growth retardation, Cryptorchidism, Hydrocephalus, Oligozoospermia, Micropenis, Infe... ORPHA:3310
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus ORPHA:157
Medulloblastoma
Hydrocephalus ORPHA:616
Peters-Plus Syndrome
Rhizomelia, Ventriculomegaly, Disproportionate short-limb short stature, Postnatal growth retarda... OMIM:261540
Trisomy 8P
Micropenis, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation ORPHA:264450
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Intrauterine growth retardation, Growth delay, Hydrocephalus ORPHA:79282
Cockayne Syndrome B
Severe short stature, Postnatal growth retardation, Intrauterine growth retardation, Cryptorchidi... OMIM:133540
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Osteopathia Striata With Cranial Sclerosis
Short stature, Spina bifida occulta, Hydrocephalus OMIM:300373
Fetal Akinesia Deformation Sequence 1
Intrauterine growth retardation, Hydrocephalus, Cryptorchidism, Stillbirth OMIM:208150
Yunis-Varon Syndrome
Clitoral hypertrophy, Postnatal growth retardation, Cryptorchidism, Hypoplastic labia majora, Mic... ORPHA:3472
Campomelic Dysplasia
Neonatal short-limb short stature, Spinal dysraphism, Disproportionate short-limb short stature, ... OMIM:114290
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ventriculomegaly, Bifid scrotum, Intrauterine growth retardation, Delayed puberty, Hydrocephalus,... OMIM:619475
Townes-Brocks Syndrome 1
Rectovaginal fistula, Bifid scrotum, Cryptorchidism, Tracheoesophageal fistula,