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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Short stature, Unilateral cry... 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
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Abnormal respiratory motile cilium morphology OMIM:215520
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Short stature, Reduced... OMIM:612649
Ciliary Dyskinesia, Primary, 13
Absent inner dynein arms, Infertility, Absent outer dynein arms OMIM:613193
Ciliary Dyskinesia, Primary, 6
Absent/shortened outer dynein arms, Abnormal respiratory motile cilium morphology OMIM:610852
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility... OMIM:612650
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Ciliary Dyskinesia, Primary, 32
Absent respiratory ciliary axoneme radial spokes, Infertility OMIM:616481
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Absent central microtubular pair morphology of respiratory motile cilia OMIM:620032
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Ciliary Dyskinesia, Primary, 10
Abnormal respiratory motile cilium morphology OMIM:612518
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis, Infertility, Immotil... OMIM:613808
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
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
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
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus OMIM:209970
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology ORPHA:922
Premature Ovarian Failure 13
Hypoplasia of the uterus, Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Biemond Syndrome Type 2
Hypospadias, Short stature, Hypogonadotropic hypogonadism, Hydrocephalus, Hypogonadism, Delayed p... ORPHA:141333
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Ciliary Dyskinesia, Primary, 40
Azoospermia, Infertility, Absent outer dynein arms OMIM:618300
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Ciliary Dyskinesia, Primary, 17
Dynein arm defect of respiratory motile cilia OMIM:614679
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Ciliary Dyskinesia, Primary, 28
Dynein arm defect of respiratory motile cilia OMIM:615505
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bicornuate uterus OMIM:258320
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Rhizomelia OMIM:166990
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
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
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Ciliary Dyskinesia, Primary, 16
Absent outer dynein arms OMIM:614017
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Hypospadias ORPHA:250994
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism, Short stature ORPHA:2183
Ciliary Dyskinesia, Primary, 38
Infertility, Absent inner and outer dynein arms OMIM:618063
Ciliary Dyskinesia, Primary, 2
Nasal polyposis, Infertility, Absent inner and outer dynein arms OMIM:606763
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms, Nasal polyposis, Communicating hydrocephalus OMIM:244400
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Biemond Syndrome Ii
Hydrocephalus, Short stature OMIM:210350
Ciliary Dyskinesia, Primary, 19
Male infertility, Nasal polyposis, Absent inner and outer dynein arms OMIM:614935
Ovarian Dysgenesis 3
Aplasia of the ovary, Primary amenorrhea, Female infertility, Delayed puberty OMIM:614324
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Nasal polyposis, Infertility, Reduced sperm motility OMIM:615444
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele ORPHA:261102
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Masa Syndrome
Hydrocephalus, Short stature, Ventriculomegaly OMIM:303350
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Ciliary Dyskinesia, Primary, 30
Absent outer dynein arms, Nasal polyposis OMIM:616037
Temple Syndrome
Short stature, Postnatal growth retardation, Cryptorchidism, Precocious puberty, Hydrocephalus ORPHA:254516
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Premature ovarian insufficiency, Short stature, Female infertility OMIM:619518
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... ORPHA:91348
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism OMIM:601794
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus OMIM:300886
Gómez-López-Hernández Syndrome
Hydrocephalus, Short stature ORPHA:1532
Central Precocious Puberty In Male
Hydrocephalus, Abnormality of the testis size, Precocious puberty in males ORPHA:649929
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Kleeblattschaedel
Hydrocephalus OMIM:148800
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Hypoplastic female external genitalia, Ventriculomegaly OMIM:618577
Woodhouse-Sakati Syndrome
Streak ovary, Premature ovarian insufficiency, Hypoplasia of the fallopian tube, Growth delay, Ab... ORPHA:3464
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Diencephalic Syndrome
Hydrocephalus, Long penis ORPHA:1672
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, H... OMIM:241080
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Bresek Syndrome
Cryptorchidism, Hydrocephalus, Growth delay, Neonatal death, Intrauterine growth retardation, Dec... ORPHA:85284
Fried Syndrome
Hydrocephalus ORPHA:85335
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Tracheoesophageal fistula, Growt... ORPHA:77298
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Craniofacial Dyssynostosis With Short Stature
Short stature, Hypospadias, Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:218350
Aicardi-Goutieres Syndrome 4
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Primary Ciliary Dyskinesia
Male infertility, Nasal polyposis, Female infertility, Hydrocephalus, Abnormal sperm motility, Ve... ORPHA:244
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... ORPHA:99429
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Hydrolethalus
Cryptorchidism, Hydrocephalus, Anencephaly, Abnormal fallopian tube morphology, Tracheal atresia ORPHA:2189
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Temple Syndrome
Short stature, Precocious puberty, Cryptorchidism, Hydrocephalus, Intrauterine growth retardation... OMIM:616222
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Short stature OMIM:618174
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Irregular menstruation, Hypoplasia of the ut... OMIM:110100
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Intrauter... OMIM:616034
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hydrocephalus, Short stature ORPHA:2701
Optic Pathway Glioma
Growth delay, Precocious puberty, Hydrocephalus ORPHA:2086
Congenital Toxoplasmosis
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly ORPHA:858
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoospermia, Macro... ORPHA:8
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Short stature ORPHA:1516
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Hydrocephalus, Tracheoesophageal fistula, Growth delay, Hypogonad... OMIM:300514
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hydrocephalus, Hypospadias, Ventriculomegaly OMIM:175700
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Hydrocephalus, Short stature, Ventriculomegaly OMIM:609757
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Radial Aplasia, X-Linked
Hydrocephalus, Penile hypospadias OMIM:312190
Triploidy
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, ... ORPHA:3376
Diabetic Embryopathy
Cryptorchidism, Hydrocephalus, Spinal dysraphism, Micropenis, Abnormal morphology of female inter... ORPHA:1926
Congenital Muscular Dystrophy, Fukuyama Type
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly ORPHA:272
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Micropenis, Hypospadias, Hydrocephalus ORPHA:171839
Tetraamelia Syndrome 1
Hydrocephalus, Hypoplasia of the fallopian tube, Vaginal atresia, Absent external genitalia OMIM:273395
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Pallister-Hall-Like Syndrome
Occipital encephalocele, Micropenis, Short stature, Hydrocephalus OMIM:241800
Genitopalatocardiac Syndrome
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Hydrocephalus, Gonadal dysgenesis, male,... ORPHA:2075
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Abnormal fallopian tube morphology, Abnormality of the ovary, Dandy-Wa... ORPHA:722
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly OMIM:304100
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Severe short stature, Rhizomelia, Hydrocephalus, Disproportionate short stature, Irregular menstr... OMIM:616482
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism, Communicating hydrocephalus ORPHA:1237
Thanatophoric Dysplasia Type 2
Encephalocele, Short stature, Hydrocephalus, Holoprosencephaly, Ventriculomegaly ORPHA:93274
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Rhombencephalosynapsis
Hydrocephalus, Tracheoesophageal fistula, Abnormality of the uterus, Ventriculomegaly ORPHA:59315
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Short stature OMIM:300558
Gorlin Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:377
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Vacterl With Hydrocephalus
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Tracheoesophageal fistula, Abno... ORPHA:3412
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Tetraamelia-Multiple Malformations Syndrome
Tracheal stenosis, Cryptorchidism, Hydrocephalus, Vaginal atresia ORPHA:3301
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Short stature, Dysmenorrhea, Hypergonadotropic hypogonadism, Decreased ... ORPHA:90796
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Vitamin K Antagonist Embryofetopathy
Intrauterine growth retardation, Hydrocephalus, Myelomeningocele ORPHA:1914
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Abnormal morphology of female internal genitalia, Short stature, Tracheoesophageal... ORPHA:1834
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Thanatophoric Dysplasia
Intrauterine growth retardation, Hydrocephalus, Disproportionate short-limb short stature, Ventri... ORPHA:2655
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro... ORPHA:1908
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Metatropic Dysplasia
Hydrocephalus, Severe short stature ORPHA:2635
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Ciliary Dyskinesia, Primary, 20
Absent outer dynein arms, Decreased fertility OMIM:615067
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation, Cryptorchidism OMIM:612938
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Rhizomelia, Short stature, Hydrocephalus OMIM:300863
Emanuel Syndrome
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Growth delay, Hypogonadism, Infertility, Intraut... ORPHA:96170
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Ritscher-Schinzel Syndrome 1
Intrauterine growth retardation, Hydrocephalus, Hypospadias, Dandy-Walker malformation OMIM:220210
Mirage Syndrome
Hypergonadotropic hypogonadism, Short stature, Hypospadias, Cryptorchidism, Hydrocephalus, Microp... OMIM:617053
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:310400
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly OMIM:616355
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus OMIM:613155
Amelocerebrohypohidrotic Syndrome
Hydrocephalus, Short stature ORPHA:1946
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation, Dandy-Wa... OMIM:611134
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Ventriculomegaly, Short stature, Hypospadias, Postnatal growth retardation, Crypto... OMIM:257300
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Short stature, Ventriculomegaly OMIM:109120
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Short stature, Cryptorchidism, Hydrocephalus, Hypogonadism, Micropenis, Dilated third ventricle, ... ORPHA:500055
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Hydranencephaly, Intrauterine growth retardation, Dandy-Walker malformation, Ventr... OMIM:225790
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Short stature, Ventriculomegaly OMIM:615630
Acrodysostosis 1 With Or Without Hormone Resistance
Mild postnatal growth retardation, Short stature, Cryptorchidism, Hydrocephalus, Irregular menstr... OMIM:101800
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
3C Syndrome
Hypoplasia of penis, Ventriculomegaly, Short stature, Hypospadias, Postnatal growth retardation, ... ORPHA:7
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Emanuel Syndrome
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Intrauterine growth retardation, Micropenis, Dan... OMIM:609029
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele ORPHA:2119
Fraser Syndrome 3
Hypoplasia of penis, Small scrotum, Hydrocephalus, Stillbirth, Tracheal atresia OMIM:617667
Methylcobalamin Deficiency Type Cble
Postnatal growth retardation, Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly ORPHA:2169
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Short stature, Hydrocephalus, Colpocephaly, Intrauterine growth retardation, Ventriculomegaly OMIM:619833
Trisomy 1Q
Small scrotum, Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Ventriculomegaly ORPHA:261344
Oculocerebrocutaneous Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Intrauterine growth retardation, Rhizomelia, Short stature, Hydrocephalus ORPHA:163966
Peroxisome Biogenesis Disorder 12A (Zellweger)
Growth delay, Abnormality of the male genitalia, Hydrocephalus, Short stature OMIM:614886
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Lowry-Maclean Syndrome
Hypospadias, Bilateral cryptorchidism, Hydrocephalus, Growth delay, Intrauterine growth retardation ORPHA:2409
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus, Disproportionate short-trunk short stature OMIM:613330
Pontocerebellar Hypoplasia, Type 7
Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Micropenis, Ventriculomegaly OMIM:614969
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Bifid uterus ORPHA:2736
Coach Syndrome 2
Hydrocephalus OMIM:619111
Linear Skin Defects With Multiple Congenital Anomalies 1
Short stature, Hypospadias, Ovotestis, Hydrocephalus, Hypoplasia of the uterus, Colpocephaly, Cho... OMIM:309801
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hydrocephalus, Hypospadias OMIM:601499
Pseudotrisomy 13 Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Bicornuate uterus, Holoprosencephaly, Micropenis OMIM:264480
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
H Syndrome
Short stature, Hydrocephalus, Azoospermia, Hypogonadism, Delayed puberty, Micropenis, Decreased t... ORPHA:168569
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Pelvis-Shoulder Dysplasia
Hydranencephaly, Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus... ORPHA:2839
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Rectovaginal fistula, Perineal fistula ORPHA:3016
Chiari Malformation Type Ii
Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida OMIM:207950
Thanatophoric Dysplasia, Type I
Neonatal death, Hydrocephalus, Lethal short-limbed short stature, Disproportionate short-limb sho... OMIM:187600
Trisomy 17P
Hypoplasia of penis, Short stature, Hydrocephalus, Growth delay, Intrauterine growth retardation ORPHA:261290
Oxoglutaric Aciduria
Hydrocephalus, Short stature ORPHA:31
Hogue-Janssen Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:616362
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Growth delay, Hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:620156
Cole-Carpenter Syndrome 2
Postnatal growth retardation, Hydrocephalus, Short stature OMIM:616294
Distal Triplication 15Q
Abnormal external genitalia, Hydrocephalus, Hydrocele testis, Intrauterine growth retardation, Da... ORPHA:314588
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Hydrocephalus, Tracheoesophageal fistula OMIM:314390
Albers-Schönberg Osteopetrosis
Hydrocephalus, Short stature ORPHA:53
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Congenital Disorder Of Glycosylation, Type Iil
Growth delay, Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly OMIM:614576
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Gracile Bone Dysplasia
Micropenis, Short stature, Hydrocephalus OMIM:602361
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
1Q44 Microdeletion Syndrome
Growth delay, Hydrocephalus, Short stature, Ventriculomegaly ORPHA:238769
Tetrasomy 15Q26
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation OMIM:614846
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:370959
Nephronophthisis 18
Hydrocephalus OMIM:615862
Craniopharyngioma
Hypogonadotropic hypogonadism, Proportionate short stature, Postnatal growth retardation, Hydroce... ORPHA:54595
Oeis Complex
Bifid uterus, Cryptorchidism, Epispadias, Ambiguous genitalia, female, Vesicovaginal fistula, Hyd... OMIM:258040
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Short stature ORPHA:1861
Walker-Warburg Syndrome
Hypoplasia of penis, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation ORPHA:899
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Hydrocephalus, Severe short stature ORPHA:1865
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hypoplastic labia majora, Hydrocephalus, Vaginal atresia, Fused labia minora OMIM:207410
Czeizel-Losonci Syndrome
Spina bifida, Hydrocephalus, Myelomeningocele, Tracheoesophageal fistula, Spina bifida occulta ORPHA:2437
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus, Short stature OMIM:112240
Griscelli Syndrome
Encephalocele, Hydrocephalus, Short stature ORPHA:381
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cryptorchidism, Hypoplasia of penis, Hydrocephalus, Ventriculomegaly ORPHA:1812
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Cryptorchidism, Hydrocephalus, Sex reversal, Microphallus, Holoprosen... OMIM:612651
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad... ORPHA:95699
Hemangioblastoma
Hydrocephalus ORPHA:252054
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Small scrotum, Hydrocephalus, Micropenis, Dandy-Walker malformation OMIM:617822
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Crouzon Syndrome
Hydrocephalus ORPHA:207
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Cryptorchidism, Micropenis, Hydrocephalus OMIM:619951
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Thakker-Donnai Syndrome
Communicating hydrocephalus, Intrauterine growth retardation, Rectovaginal fistula, Tracheoesopha... ORPHA:1780
Fanconi Anemia, Complementation Group L
Hydrocephalus, Tracheoesophageal fistula, Growth delay, Aplasia of the uterus, Intrauterine growt... OMIM:614083
Fg Syndrome Type 1
Short stature, Hypospadias, Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:93932
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus, Polycystic ovaries ORPHA:2969
Multiple Sulfatase Deficiency
Increased CSF protein concentration, Hydrocephalus, Short stature, Ventriculomegaly OMIM:272200
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Growth delay, Dandy-Walker malformation OMIM:614424
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Desmosterolosis
Severe short stature, Hydrocephalus, Growth delay, Ambiguous genitalia, Intrauterine growth retar... ORPHA:35107
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Cryptorchidism, Hydrocephalus, Prominent scrotal raphe ORPHA:1555
Fanconi Anemia
Short stature, Hypospadias, Spina bifida, Abnormal preputium morphology, Cryptorchidism, Hydrocep... ORPHA:84
Thanatophoric Dysplasia Type 1
Hydrocephalus, Lethal short-limbed short stature, Ventriculomegaly ORPHA:1860
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:603387
Desmosterolosis
Rhizomelia, Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male, Ventriculomegaly OMIM:602398
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Short stature, Dandy-Walker malformation ORPHA:459061
Exstrophy-Epispadias Complex
Bifid scrotum, Spina bifida, Bifid uterus, Cryptorchidism, Epispadias, Cystocele, Penoscrotal tra... ORPHA:322
Arachnoiditis
Hydrocephalus ORPHA:137817
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Meckel Syndrome, Type 6
Abnormal internal genitalia, Hydrocephalus, Anencephaly, Occipital encephalocele OMIM:612284
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Clitoral hypoplasia, Holoprosencephaly, Labial hypopl... OMIM:147791
Lateral Meningocele Syndrome
Cryptorchidism, Hydrocephalus, Meningocele, Short stature OMIM:130720
Fanconi Anemia, Complementation Group R
Growth delay, Hydrocephalus OMIM:617244
Chromosome 6Q24-Q25 Deletion Syndrome
Growth delay, Intrauterine growth retardation, Hydrocephalus, Lateral ventricle dilatation OMIM:612863
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Severe short stature, Neonatal short-limb short stature, Hydrocephalus OMIM:224400
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:615219
Lhermitte-Duclos Disease
Hydrocephalus, Ovarian neoplasm ORPHA:65285
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:613001
Crouzon Syndrome
Hydrocephalus, Dysgerminoma OMIM:123500
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:60040
Cutis Laxa, Autosomal Recessive, Type Iib
Intrauterine growth retardation, Hydrocephalus OMIM:612940
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:613154
Cerebrooculonasal Syndrome
Encephalocele, Postnatal growth retardation, Hydrocephalus, Hypoplastic male external genitalia, ... OMIM:605627
Tetrasomy 5P
Postnatal growth retardation, Hydrocephalus ORPHA:3309
Dubowitz Syndrome
Short stature, Hypospadias, Abnormality of female external genitalia, Postnatal growth retardatio... ORPHA:235
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short stature, Hypospadias, Cryptorchidism, Hydrocephalus, Tracheal stenosis, Micropenis ORPHA:163979
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Muenke Syndrome
Hydrocephalus ORPHA:53271
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Holoprosencephaly... ORPHA:2166
7Q11.23 Microduplication Syndrome
Short stature, Hypospadias, Cryptorchidism, Hydrocephalus, Growth delay, Aplasia/Hypoplasia of th... ORPHA:96121
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Hypospadias, Hydrocephalus, Hypoplastic labia majora, Prominent scrotal raphe, Ven... OMIM:123790
Achondroplasia
Hydrocephalus, Disproportionate short stature, Rhizomelia ORPHA:15
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:612582
Monosomy 18Q
Short stature, Bilateral cryptorchidism, Hydrocephalus, Growth delay, Micropenis ORPHA:1600
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocele testis, Hydrocephalus, Ventriculomegaly OMIM:613603
1Q21.1 Microdeletion Syndrome
Intrauterine growth retardation, Hydrocephalus, Short stature, Cryptorchidism ORPHA:250989
Spondylocostal Dysostosis 4, Autosomal Recessive
Hydrocephalus, Spina bifida occulta, Short stature, Myelomeningocele OMIM:613686
Cousin Syndrome
Rhizomelia, Hydrocephalus, Ambiguous genitalia, female, Disproportionate short stature, Ambiguous... OMIM:260660
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Hydrocephalus, Tracheoesophageal f... OMIM:227646
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate ORPHA:90065
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2378
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Anencephaly, Holoprosencephaly, Neonatal death, Ambiguous genitalia, Intrauterine ... OMIM:269860
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
Mucopolysaccharidosis, Type Ii
Mild short stature, Hydrocephalus, Severe short stature, Short stature OMIM:309900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Cryptorchidism, Hydrocephalus, Meningoencephalocele, Hypoplastic male ex... OMIM:236670
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Short stature, Female infertility, Postnatal growth retardation,... ORPHA:99413
Turner Syndrome
Premature ovarian insufficiency, Short stature, Female infertility, Postnatal growth retardation,... ORPHA:881
Mosaic Monosomy X
Premature ovarian insufficiency, Short stature, Female infertility, Postnatal growth retardation,... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Short stature, Female infertility, Postnatal growth retardation,... ORPHA:99226
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Short stature ORPHA:1064
Multiple Sulfatase Deficiency
Hydrocephalus, Short stature ORPHA:585
Chromosome 17P13.1 Deletion Syndrome
Hydrocele testis, Hydrocephalus, Spina bifida OMIM:613776
Osteopetrosis, Autosomal Recessive 5
Short stature, Hydrocephalus, Growth delay, Stillbirth, Ventriculomegaly OMIM:259720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... OMIM:615287
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Hydrolethalus Syndrome 1
Hypospadias, Bifid uterus, Anencephaly, Stillbirth, Severe hydrocephalus, Tracheal stenosis, Intr... OMIM:236680
Apert Syndrome
Cryptorchidism, Hydrocephalus, Rhizomelic arm shortening, Vaginal atresia, Ventriculomegaly OMIM:101200
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Hypoplastic male external genitalia OMIM:608091
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Hydrocephalus, Hypoplasia of the ovary, Intrauterine growth retardation, Micropeni... OMIM:619321
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:618476
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, External genital hypoplasia,... OMIM:249000
Holoprosencephaly 14
Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cysts, Holoprosencepha... OMIM:619895
Aymé-Gripp Syndrome
Short stature, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:1272
Mucopolysaccharidosis, Type Vii
Postnatal growth retardation, Hydrocephalus, Severe short stature, Short stature OMIM:253220
Whipple Disease
Hydrocephalus, Erectile dysfunction ORPHA:3452
Apert Syndrome
Hydrocephalus, Ventriculomegaly, Ovarian neoplasm ORPHA:87
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Neurooculorenal Syndrome
Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Aqueductal stenosis, Ventriculomegaly OMIM:620305
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Tenorio Syndrome
Hydrocephalus, Ventriculomegaly OMIM:616260
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Short stature ORPHA:2720
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Aplasia of the vagina, Ventriculomegaly, Aplasia of the uterus ORPHA:457284
Coccidioidomycosis
Abnormality of the male genitalia, Hydrocephalus, CSF pleocytosis, CSF lymphocytic pleiocytosis, ... ORPHA:228123
Marfanoid-Progeroid-Lipodystrophy Syndrome
Intrauterine growth retardation, Hydrocephalus, Lateral ventricular asymmetry OMIM:616914
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Pentalogy Of Cantrell
Encephalocele, Anencephaly, Hydrocephalus, Hypospadias ORPHA:1335
Cole-Carpenter Syndrome
Communicating hydrocephalus, Intrauterine growth retardation, Short stature ORPHA:2050
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Severe short stature, Hypospadias, External genital hypoplasia, Crypto... ORPHA:2658
Congenital Myopathy 22A, Classic
Neonatal death, Normal pressure hydrocephalus OMIM:620351
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus ORPHA:2318
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dys... ORPHA:63259
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Short stature, Hypospadias, Septate vagina, Precocious puberty, Cry... OMIM:270400
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus ORPHA:220497
Opitz-Kaveggia Syndrome
Cryptorchidism, Hydrocephalus, Short stature, Hypospadias OMIM:305450
Dextrocardia
Abnormal reproductive system morphology, Hydrocephalus ORPHA:1666
Cardiofaciocutaneous Syndrome
Cryptorchidism, Hydrocephalus, Short stature ORPHA:1340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly, Occipital meningocele, Micropenis, Ventriculomegaly OMIM:616546
Joubert Syndrome
Encephalocele, Hydrocephalus ORPHA:475
Icf Syndrome
Communicating hydrocephalus, Short stature ORPHA:2268
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Severe short stature, Hypospadias, Epispadias, Male pseudohermaphrodit... ORPHA:2556
Isotretinoin-Like Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Hydrocephalus ORPHA:2306
Meckel Syndrome
Encephalocele, True hermaphroditism, Cryptorchidism, Male pseudohermaphroditism, Hydrocephalus, A... ORPHA:564
Kabuki Syndrome
Hypoplasia of penis, Short stature, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalu... ORPHA:2322
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Postnatal growth retardation, Lateral ventricle dilatation, Normal pressure hydrocephalus ORPHA:300570
Hereditary Cryohydrocytosis With Reduced Stomatin
Postnatal growth retardation, Hypoglycorrhachia, Short stature, Communicating hydrocephalus ORPHA:168577
Joubert Syndrome With Ocular Defect
Encephalocele, Hydrocephalus ORPHA:220493
Cockayne Syndrome A
Short stature, Cryptorchidism, Irregular menstruation, Severe postnatal growth retardation, Norma... OMIM:216400
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Growth delay, Hydrocephalus, Short stature OMIM:616007
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:91350
Thoracoabdominal Syndrome
Anencephaly, Hydrocephalus, Hypospadias OMIM:313850
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus ORPHA:974
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Holoprosencephaly OMIM:253800
Dural Sinus Malformation
Myelopathy, Hydrocephalus ORPHA:97339
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly ORPHA:2356
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Ovarian cyst, Ventriculomegaly OMIM:618188
Achondroplasia
Hydrocephalus, Neonatal short-limb short stature, Rhizomelia OMIM:100800
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus OMIM:182212
Mend Syndrome
Cryptorchidism, Hydrocephalus, Short stature, Dandy-Walker malformation ORPHA:401973
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:614643
Mend Syndrome
Cryptorchidism, Hydrocephalus, Short stature, Dandy-Walker malformation OMIM:300960
Marden-Walker Syndrome
Abnormal penis morphology, Severe short stature, Hypospadias, Epispadias, Hydrocephalus, Growth d... ORPHA:2461
Holoprosencephaly
Encephalocele, Hypoplasia of penis, Cryptorchidism, Hydrocephalus, Spinal dysraphism, Holoprosenc... ORPHA:2162
Holoprosencephaly 9
Short stature, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Micropenis OMIM:610829
Hurler Syndrome
Hydrocephalus, Short stature OMIM:607014
Monosomy 9Q22.3
Hydrocephalus, Ovarian fibroma, Ventriculomegaly ORPHA:77301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Ventriculomegaly OMIM:613150
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Basal Cell Nevus Syndrome 1
Hydrocephalus, Ovarian fibroma, Ovarian carcinoma, Spina bifida OMIM:109400
Alexander Disease
Precocious puberty, Hydrocephalus, Aqueductal stenosis ORPHA:58
15Q Overgrowth Syndrome
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation ORPHA:314585
Rabin-Pappas Syndrome
Hydrocephalus OMIM:620155
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Short stature, Lateral ventricle dilatation OMIM:619575
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Rhizomelia, Short stature, Hydrocephalus OMIM:245600
Mohr Syndrome
Hydrocephalus, Short stature OMIM:252100
Raine Syndrome
Neonatal death, Hydrocephalus, Short stature OMIM:259775
Cardiofaciocutaneous Syndrome 1
Hydrocephalus, Short stature OMIM:115150
Fraser Syndrome 1
Encephalocele, Hypospadias, Cryptorchidism, Hydrocephalus, Myelomeningocele, Bicornuate uterus, M... OMIM:219000
Marshall-Smith Syndrome
Short stature, Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:602535
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus, Short stature ORPHA:220295
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly ORPHA:395
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Hypogonadism, Short stature, Hydrocephalus ORPHA:3042
Wolf-Hirschhorn Syndrome
Short stature, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Growth delay, Seve... OMIM:194190
Otopalatodigital Syndrome Type 2
Encephalocele, Hydrocephalus, Myelomeningocele, Hypospadias ORPHA:90652
Hurler Syndrome
Growth delay, Hydrocephalus, Short stature ORPHA:93473
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus, Bicornuate uterus, Short stature OMIM:154400
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Cryptorchidism, Hydrocephalus OMIM:619512
Peters Plus Syndrome
Rhizomelia, Short stature, Hypospadias, Postnatal growth retardation, Cryptorchidism, Hydrocephal... ORPHA:709
Hajdu-Cheney Syndrome
Cryptorchidism, Hydrocephalus, Short stature, Hypospadias OMIM:102500
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Testicular neoplasm, Spina bifida, Postnatal growth retardation, Cryptorchidism, Pre... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Testicular neoplasm, Spina bifida, Postnatal growth retardation, Cryptorchidism, Pre... ORPHA:363958
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Tracheoesophageal fistula ORPHA:268249
Stromme Syndrome
Hydrocephalus, Stillbirth OMIM:243605
Mucopolysaccharidosis Type 1
Hydrocephalus, Short stature ORPHA:579
Orofaciodigital Syndrome I
Ovarian cyst, Hydrocephalus, Myelomeningocele, Short stature OMIM:311200
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules ORPHA:25
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Cryptorchidism, Ventriculomegaly ORPHA:2462
Osteopetrosis, Autosomal Recessive 7
Growth delay, Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus ORPHA:1454
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus, Rhizomelia OMIM:618162
22Q11.2 Deletion Syndrome
Short stature, Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Meningocele, Occipital m... ORPHA:567
Kabuki Syndrome 1
Short stature, Premature thelarche, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, ... OMIM:147920
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, Hydrocephalus, Disproportionate short stature, Severe postnatal growth retardatio... OMIM:210710
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Postnatal growth retardation, Hydrocephalus ORPHA:536467
Fetal Akinesia Deformation Sequence 1
Intrauterine growth retardation, Hydrocephalus, Stillbirth, Cryptorchidism OMIM:208150
Trisomy 8P
Cryptorchidism, Micropenis, Hydrocephalus, Dandy-Walker malformation ORPHA:264450
Cryptococcosis
Hydrocephalus, Prostatitis ORPHA:1546
Fontaine Progeroid Syndrome
Small scrotum, Short stature, Cryptorchidism, Hydrocephalus, Hypoplastic labia majora, Neonatal d... OMIM:612289
Peters-Plus Syndrome
Hypoplasia of the vagina, Rhizomelia, Hypospadias, Postnatal growth retardation, Cryptorchidism, ... OMIM:261540
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Hydrocephalus, Short stature, Disproportionate short-trunk short stature OMIM:253200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Ventriculomegaly ORPHA:228308
Lymphangioleiomyomatosis
Hydrocephalus, Abnormal morphology of female internal genitalia ORPHA:538
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract OMIM:600145
Meningioma
Impotence, Hypogonadotropic hypogonadism, Hydrocephalus, Amenorrhea ORPHA:2495
Yunis-Varon Syndrome
Short stature, Hypospadias, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Hypoplas... ORPHA:3472
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Hydrocephalus, T... OMIM:107480
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Growth delay, Communicating hydrocephalus OMIM:616084
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hydrocephalus, Growth delay, Azoospermia, Delayed puberty, Ventriculomegaly ORPHA:2072
Cockayne Syndrome B
Severe short stature, Postnatal growth retardation, Cryptorchidism, Normal pressure hydrocephalus... OMIM:133540
Pseudoaminopterin Syndrome
Cryptorchidism, Hydrocephalus, Short stature ORPHA:221120
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, ... OMIM:268300
Microphthalmia With Limb Anomalies
Cryptorchidism, Hydrocephalus, Short stature ORPHA:1106
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Growth delay, Intrauterine growth retardation, Hydrocephalus ORPHA:79282
Histiocytoid Cardiomyopathy
Hydrocephalus, Polycystic ovaries ORPHA:137675
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus ORPHA:157
Medulloblastoma
Hydrocephalus ORPHA:616
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Hajdu-Cheney Syndrome
Hydrocephalus, Short stature, Hypospadias, Delayed puberty ORPHA:955
Osteopathia Striata With Cranial Sclerosis
Hydrocephalus, Spina bifida occulta, Short stature OMIM:300373
Tetrasomy 9P
Cryptorchidism, Hydrocephalus, Oligozoospermia, Infertility, Intrauterine growth retardation, Mic... ORPHA:3310
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Short stature, Spina bifida OMIM:162200
Campomelic Dysplasia
Hypospadias, Spina bifida, Hydrocephalus, Spinal dysraphism, Sex reversal, Disproportionate short... OMIM:114290
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Hypospadias, Hydrocephalus, Delayed puberty, Intrauterine growth retardation, Micr... OMIM:619475
Neurofibromatosis Type 1
Short stature, Precocious puberty, Cryptorchidism, Hydrocephalus, Delayed puberty ORPHA:636
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Otopalatodigital Syndrome, Type Ii
Short stature, Hypospadias, Spina bifida, Postnatal growth retardation, Cryptorchidism, Hydroceph... OMIM:304120
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Mucopolysaccharidosis Type 3
Hydrocephalus, Ventriculomegaly ORPHA:581
Distal 22Q11.2 Microduplication Syndrome
Cryptorchidism, Hydrocephalus ORPHA:261337
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus ORPHA:505248
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Short stature, Hypospadias, Cryptorchidism, Mild fetal ventriculomeg... OMIM:619841
Focal Dermal Hypoplasia
Short stature, Cryptorchidism, Hydrocephalus, Myelomeningocele, Clitoral hypoplasia, Labial hypop... OMIM:305600
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus ORPHA:1571
Osteogenesis Imperfecta
Rhizomelia, Short stature, Hydrocephalus, Noncommunicating hydrocephalus, Growth delay, Intrauter... ORPHA:666
Baller-Gerold Syndrome
Severe short stature, Short stature, Hydrocephalus, Perineal fistula, Rectovaginal fistula, Sever... OMIM:218600
Wiedemann-Rautenstrauch Syndrome
Short stature, Hypospadias, Cryptorchidism, Hydrocephalus, Long penis, Intrauterine growth retard... OMIM:264090
Gaucher Disease
Hydrocephalus, Short stature, Ventriculomegaly, Delayed puberty ORPHA:355
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Limb Body Wall Complex
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta ORPHA:2369
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Micropenis, Ventriculomegaly ORPHA:457359
Chromosome 1P36 Deletion Syndrome, Distal
Abnormal external genitalia, Hypospadias, Cryptorchidism, Hydrocephalus, Growth delay, Lateral ve... OMIM:607872
Wiedemann-Rautenstrauch Syndrome
Short stature, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Hydrocephalus, Wide pe... ORPHA:3455
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus OMIM:261740
Semilobar Holoprosencephaly