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
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Ciliary Dyskinesia, Primary, 12
Bronchiectasis, Immotile sperm, Short stature, Chronic sinusitis, Recurrent respiratory infection... OMIM:612650
Ciliary Dyskinesia, Primary, 34
Recurrent bronchitis, Bronchiectasis, Immotile sperm, Recurrent sinusitis, Absent central microtu... OMIM:617091
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Bronchiectasis, Recurrent sinusitis, Recurrent respiratory infections, Sh... OMIM:612649
Ciliary Dyskinesia, Primary, 13
Infertility, Recurrent bronchitis, Bronchiectasis, Absent inner dynein arms, Absent outer dynein ... OMIM:613193
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Abnormal respiratory motile cilium morphology, Recurrent sinopulmonary infections OMIM:215520
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Ciliary Dyskinesia, Primary, 6
Recurrent sinusitis, Sinusitis, Abnormal respiratory motile cilium morphology, Recurrent respirat... OMIM:610852
Ciliary Dyskinesia, Primary, 15
Infertility, Recurrent pneumonia, Bronchiectasis, Nasal polyposis, Immotile sperm, Abnormal axone... OMIM:613808
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Reduced sperm motility, Bronchiectasis, Absent inner dynein arms, Immotile s... OMIM:613807
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus, Wide nasal bridge OMIM:209970
Familial Nasal Acilia
Bronchiectasis, Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Abn... ORPHA:922
Ciliary Dyskinesia, Primary, 1
Absent frontal sinuses, Bronchiectasis, Nasal polyposis, Pneumonia, Sinusitis, Chronic sinusitis,... OMIM:244400
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Nasal polyposis, Immotile sperm, Sinusitis OMIM:242670
Ciliary Dyskinesia, Primary, 45
Recurrent respiratory infections, Male infertility, Absent inner and outer dynein arms, Bronchiec... OMIM:618801
Ciliary Dyskinesia, Primary, 10
Recurrent sinusitis, Abnormal respiratory motile cilium morphology, Chronic sinusitis OMIM:612518
Ciliary Dyskinesia With Excessively Long Cilia
Recurrent bronchitis, Nasal polyposis, Abnormal respiratory motile cilium morphology, Sinusitis OMIM:242680
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Ciliary Dyskinesia, Primary, 17
Abnormal respiratory motile cilium morphology, Recurrent respiratory infections, Bronchiectasis, ... OMIM:614679
Ciliary Dyskinesia, Primary, 26
Infertility, Reduced sperm motility, Bronchiectasis, Absent outer dynein arms, Recurrent sinusiti... OMIM:615500
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Immotile sperm, Recurrent sinusitis, Male infertility, Chronic bronchitis OMIM:614874
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormal respiratory motile cilium morphology OMIM:225050
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Biemond Syndrome Type 2
Delayed puberty, Short stature, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Hydroce... ORPHA:141333
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Ciliary Dyskinesia, Primary, 22
Infertility, Reduced sperm motility, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Absent... OMIM:615444
46,Xy Sex Reversal 7
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Ciliary Dyskinesia, Primary, 19
Infertility, Reduced sperm motility, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Absent... OMIM:614935
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Absent outer dynein arms, Recurrent sinusitis, Atelectasis, Recurrent pneumonia, ... OMIM:615067
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Ciliary Dyskinesia, Primary, 38
Infertility, Absent inner and outer dynein arms, Bronchiectasis, Chronic sinusitis OMIM:618063
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Female infertility, Secondary amenorr... OMIM:612310
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Ciliary Dyskinesia, Primary, 16
Absent outer dynein arms, Bronchiectasis, Chronic sinusitis OMIM:614017
Ciliary Dyskinesia, Primary, 2
Infertility, Bronchiectasis, Nasal polyposis, Absent inner and outer dynein arms, Sinusitis, Recu... OMIM:606763
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus, Hydrocephalus OMIM:258320
Ciliary Dyskinesia, Primary, 30
Bronchiectasis, Absent outer dynein arms, Nasal polyposis, Chronic bronchitis, Recurrent respirat... OMIM:616037
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus OMIM:166990
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Fanconi Anemia, Complementation Group R
Growth delay, Hydrocephalus OMIM:617244
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Developmental And Epileptic Encephalopathy 36
Anteverted nares, Hydrocephalus OMIM:300884
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Short stature, Postnatal growth retardation OMIM:616113
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Hydrocephalus, Short stature ORPHA:2183
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Hydatidiform Mole, Recurrent, 4
Female infertility, Recurrent spontaneous abortion OMIM:618432
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Biemond Syndrome Ii
Hydrocephalus, Short stature OMIM:210350
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Band Heterotopia
Ventriculomegaly, Hydrocephalus OMIM:600348
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Gómez-López-Hernández Syndrome
Anteverted nares, Hydrocephalus, Short stature ORPHA:1532
Asherman Syndrome
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... ORPHA:137686
Temple Syndrome
Cryptorchidism, Short stature, Intrauterine growth retardation, Decreased testicular size, Anteve... OMIM:616222
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Prominent nose OMIM:617281
Masa Syndrome
Ventriculomegaly, Hydrocephalus, Short stature OMIM:303350
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Respiratory tract infection, Bronchiectasis, ... ORPHA:244
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Hypospadias ORPHA:250994
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus, Abnormal lung lobation ORPHA:945
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Achondroplasia
Rhizomelia, Hydrocephalus, Neonatal short-limb short stature, Depressed nasal bridge OMIM:100800
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Functioning Gonadotropic Adenoma
Infertility, Abnormality of the menstrual cycle, Ovarian cyst, Amenorrhea, Oligospermia, Impotenc... ORPHA:91348
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Short nose, Ventriculomegaly, Hypoplastic female external genitalia, Wide nasal b... OMIM:618577
Tetraamelia Syndrome 1
Urethral atresia, Hypoplasia of the fallopian tube, Choanal atresia, Absent external genitalia, V... OMIM:273395
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Abnormality of the uterus,... ORPHA:2138
Kleeblattschaedel
Hydrocephalus OMIM:148800
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Hydrocephalus OMIM:601794
Central Precocious Puberty
Isosexual precocious puberty, Hydrocephalus, Premature thelarche, Proportionate short stature ORPHA:759
Pettigrew Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Prominent nose OMIM:304340
Hydrocephalus With Associated Malformations
Intrauterine growth retardation, Pulmonary hypoplasia, Hydrocephalus OMIM:236640
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus, Bulbous nose ORPHA:2185
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Woodhouse-Sakati Syndrome
Micropenis, Growth delay, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ovar... ORPHA:3464
Craniofacial Dyssynostosis
Underdeveloped nasal alae, Hydrocephalus, Short stature, Wide nasal bridge ORPHA:1516
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Temple Syndrome
Cryptorchidism, Hydrocephalus, Postnatal growth retardation, Short stature, Precocious puberty ORPHA:254516
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613154
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Hypog... OMIM:241080
Diencephalic Syndrome
Hydrocephalus, Long penis ORPHA:1672
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Irregular menstruation, Hypoplasia of the uterus, Wide nasal bridge, Female infertili... OMIM:110100
Mend Syndrome
Cryptorchidism, Short stature, Prominent nasal bridge, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Pallister-Hall-Like Syndrome
Short nose, Pulmonary hypoplasia, Micropenis, Hydrocephalus, Depressed nasal bridge OMIM:241800
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Bulbous nose, Wide nasal bridge, Anteverted nares, Hydrocephalus, Depressed nasal bridge OMIM:600991
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Short nose, Short stature, Anteverted nares, Hydrocephalus ORPHA:2701
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus ORPHA:261102
Hydrolethalus
Cryptorchidism, Arrhinencephaly, Tracheal atresia, Anencephaly, Laryngomalacia, Abnormal fallopia... ORPHA:2189
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Short nose, Anteverted nares, Laryngomalacia, Hypospadias, Micropenis, Hydrocepha... ORPHA:171839
Fried Syndrome
Hydrocephalus ORPHA:85335
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Ventriculomegaly, Growth delay, Intrauterine growth retardation, ... OMIM:300514
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Growth delay, Primary amenorrhea, Female infertil... ORPHA:91
Aicardi-Goutieres Syndrome 4
Intrauterine growth retardation, Ventriculomegaly, CSF lymphocytic pleiocytosis, Hydrocephalus OMIM:610333
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus OMIM:300886
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs, Hydrocephalus, Severe short stature, Depressed nasal bridge ORPHA:2635
Crouzon Syndrome With Acanthosis Nigricans
Choanal atresia, Hydrocephalus OMIM:612247
47,Xyy Syndrome
Cryptorchidism, Azoospermia, Oligospermia, Macroorchidism, Hypospadias, Male infertility, Micrope... ORPHA:8
Bresek Syndrome
Cryptorchidism, Growth delay, Neonatal death, Intrauterine growth retardation, Decreased testicul... ORPHA:85284
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal nasal morphology, Hydrocephalus, Depressed nasal bridge ORPHA:83473
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Holoprosencephaly, Growth delay, Hypoplasia of penis, Hypospadias, Tracheoesophag... ORPHA:77298
Dandy-Walker Malformation With Postaxial Polydactyly
Wide nasal bridge, Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation, Depressed ... OMIM:220220
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:324416
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Bilateral cryptorchidism, Aplasia... ORPHA:99429
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Ventriculomegaly, Wide nasal bridge, Hypospadias, Hydrocephalus OMIM:175700
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Ventriculomegaly, Short stature, Hypospadias, Hydrocephalus OMIM:218350
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydranencephaly, Intrauterine growth retardation, Hydrocephalus, Dandy-Walker m... OMIM:225790
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Hydrolethalus Syndrome 2
Ventriculomegaly, Hydrocephalus, Anencephaly OMIM:614120
Thanatophoric Dysplasia
Ventriculomegaly, Pulmonary hypoplasia, Intrauterine growth retardation, Hydrocephalus, Dispropor... ORPHA:2655
Optic Pathway Glioma
Growth delay, Hydrocephalus, Precocious puberty ORPHA:2086
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Ventriculomegaly, Aplasia/Hypoplasia of the lungs, Short stature, Hydrocephalu... ORPHA:93274
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus, Depressed nasal bridge OMIM:602501
Mounier-Kühn Syndrome
Pneumonia, Recurrent bronchopulmonary infections, Tracheal stenosis, Bronchitis, Tracheobronchmeg... ORPHA:3347
Gorlin Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Wide nasal bridge ORPHA:377
Vitamin K Antagonist Embryofetopathy
Short nose, Choanal atresia, Intrauterine growth retardation, Myelomeningocele, Anteverted nares,... ORPHA:1914
Genitopalatocardiac Syndrome
Cryptorchidism, Wide nasal bridge, Gonadal dysgenesis, male, Male pseudohermaphroditism, Intraute... ORPHA:2075
Diabetic Embryopathy
Abnormal morphology of female internal genitalia, Cryptorchidism, Spinal dysraphism, Abnormality ... ORPHA:1926
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Abnormality of the larynx, Vaginal atresia, Aplasia/Hypoplasia of the lungs, Trac... ORPHA:3301
Rhombencephalosynapsis
Abnormality of the uterus, Short nose, Ventriculomegaly, Tracheoesophageal fistula, Anteverted na... ORPHA:59315
Radial Aplasia, X-Linked
Penile hypospadias, Hydrocephalus OMIM:312190
Mental Retardation, Buenos Aires Type
Hypospadias, Hydrocephalus, Prominent nose, Wide nasal bridge OMIM:249630
Beemer-Ertbruggen Syndrome
Cryptorchidism, Ambiguous genitalia, Bulbous nose, Wide nasal bridge, Communicating hydrocephalus ORPHA:1237
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Ventriculomegaly, Anencephaly, Decreased testicular size, Micropenis, Hydrocephalus, Dandy-Walker... OMIM:615287
Congenital Toxoplasmosis
Intrauterine growth retardation, Ventriculomegaly, Hydrocephalus ORPHA:858
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, Rhizomelia, Short stature, Intrauterine growth retardation, Hydrocephalus OMIM:300863
Papillary Tumor Of The Pineal Region
Increased CSF protein, Hydrocephalus ORPHA:251915
Fanconi Anemia, Complementation Group L
Hydrocephalus, Wide nasal bridge, Intrauterine growth retardation, Micropenis, Tracheoesophageal ... OMIM:614083
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short nose, Hydrocephalus, Wide nasal bridge OMIM:613603
Chromosome 17P13.1 Deletion Syndrome
Prominent nasal bridge, Anteverted nares, Hydrocephalus OMIM:613776
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus ORPHA:352682
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Wide nasal bridge ORPHA:380
Cutis Laxa, Autosomal Recessive, Type Iib
Intrauterine growth retardation, Hydrocephalus, Bulbous nose OMIM:612940
Ritscher-Schinzel Syndrome 1
Intrauterine growth retardation, Hypospadias, Hydrocephalus, Dandy-Walker malformation, Depressed... OMIM:220210
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Dilation of lateral ventricles OMIM:300864
Aminopterin/Methotrexate Embryofetopathy
Holoprosencephaly, Spinal dysraphism, Pulmonary artery atresia, Anencephaly, Wide nasal bridge, M... ORPHA:1908
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Bulbous nose, Wide nasal bridge, Prominent nose, Anteverted nares, Hydrocephalus, Depressed nasal... ORPHA:2180
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Peroxisome Biogenesis Disorder 12A (Zellweger)
Growth delay, Wide nasal bridge, Abnormality of the male genitalia, Short stature, Hydrocephalus,... OMIM:614886
Congenital Muscular Dystrophy, Fukuyama Type
Intrauterine growth retardation, Ventriculomegaly, Hydrocephalus ORPHA:272
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Tracheoesophageal fistula, Hydrocephalus OMIM:314390
Meckel Syndrome, Type 6
Pulmonary hypoplasia, Hydrocephalus, Anencephaly, Abnormal internal genitalia OMIM:612284
Axial Mesodermal Dysplasia Spectrum
Abnormal morphology of female internal genitalia, Hydrocephalus, Aplasia/Hypoplasia of the lungs,... ORPHA:1834
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Ventriculomegaly, Short stature, Broad nasal tip, Hydrocephalus OMIM:609757
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Irregular menstruation, Mild postnatal growth retardation, Short stature, Broad n... OMIM:101800
3C Syndrome
Short nose, Ventriculomegaly, Recurrent respiratory infections, Postnatal growth retardation, Wid... ORPHA:7
Thanatophoric Dysplasia, Type I
Neonatal death, Lethal short-limbed short stature, Hydrocephalus, Severe short stature OMIM:187600
Craniotelencephalic Dysplasia
Arrhinencephaly, Hydrocephalus ORPHA:1528
Triploidy
Cryptorchidism, Ambiguous genitalia, Holoprosencephaly, Meningocele, Hypoplasia of penis, Intraut... ORPHA:3376
Edinburgh Malformation Syndrome
Short nose, Choanal atresia, Hydrocephalus, Anteverted nares ORPHA:1895
Vacterl With Hydrocephalus
Cryptorchidism, Spina bifida, Arrhinencephaly, Aqueductal stenosis, Pulmonary hypoplasia, Intraut... ORPHA:3412
Mirage Syndrome
Cryptorchidism, Microphallus, Hypergonadotropic hypogonadism, Shawl scrotum, Aspiration pneumonia... OMIM:617053
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Melanosis, Neurocutaneous
Dandy-Walker malformation, Hydrocephalus, Choroid plexus papilloma OMIM:249400
Hypoplasminogenemia
Abnormality of the ovary, Cervicitis, Abnormal fallopian tube morphology, Hydrocephalus, Dandy-Wa... ORPHA:722
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short nose, Rhizomelia, Short stature, Intrauterine growth retardation, Hydrocephalus ORPHA:163966
Hec Syndrome
Vaginal hydrocele, Communicating hydrocephalus, Abnormality of the pharynx ORPHA:2119
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Intrauterine growth retardation, Anteverted nares, Hydrocephalus, Dandy-Walker ma... OMIM:612938
Emanuel Syndrome
Infertility, Cryptorchidism, Ventriculomegaly, Growth delay, Recurrent respiratory infections, In... ORPHA:96170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613153
Mosaic Variegated Aneuploidy Syndrome 1
Cryptorchidism, Ambiguous genitalia, Short nose, Bifid scrotum, Anteverted nares, Ventriculomegal... OMIM:257300
Endocrine-Cerebroosteodysplasia
Cryptorchidism, Ambiguous genitalia, Microphallus, Sex reversal, Holoprosencephaly, Ventriculomeg... OMIM:612651
Lissencephaly 5
Hydrocephalus OMIM:615191
Infantile Sialic Acid Storage Disease
Anteverted nares, Hydrocephalus OMIM:269920
Mental Retardation, Autosomal Dominant 36
Ventriculomegaly, Anteverted nares, Hydrocephalus OMIM:616362
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Chordee, Bilateral cryptorchidism, Postnatal growth retarda... ORPHA:96179
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Decreased fertility in females, Ambiguous genitalia, male, Hypergonadotropic hypo... ORPHA:90796
Joubert Syndrome 14
Growth delay, Prominent nasal bridge, Hydrocephalus, Dandy-Walker malformation OMIM:614424
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Severe short stature, Wide nasal bridge, Pulmonary hypoplasia, Spontaneous aborti... ORPHA:1865
Vacterl Association With Hydrocephalus
Stillbirth, Hydrocephalus, Aqueductal stenosis OMIM:276950
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Oligomenorrhea, Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Streak ovary, Polycysti... ORPHA:572333
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:617866
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Disproportionate short stature, Rhizomelia, Severe short stature, Hydrocephalus, Depressed nasal ... OMIM:616482
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Hydrocephalus, Chordee, Hypoplasia of the uterus, Short stature, Hypospadias, Clitoral... OMIM:309801
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Recurrent upper respiratory tract infections, Chronic sinusitis, Recurrent lower ... OMIM:618699
H Syndrome
Recurrent pharyngitis, Azoospermia, Bronchiectasis, Amenorrhea, Delayed puberty, Short stature, D... ORPHA:168569
Lowry-Maclean Syndrome
Short nose, Short nasal bridge, Growth delay, Bilateral cryptorchidism, Choanal atresia, Intraute... ORPHA:2409
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hydrocephalus, Short stature OMIM:109120
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Hydrocephalus, Aqueductal stenosis ORPHA:2182
Krabbe Disease
Increased CSF protein, Hydrocephalus OMIM:245200
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hydrocephalus ORPHA:93262
Trisomy 1Q
Cryptorchidism, Ambiguous genitalia, Ventriculomegaly, Scrotal hypoplasia, Hydrocephalus, Wide no... ORPHA:261344
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Long nose, Communicating hydrocephalus, Wide nose ORPHA:2184
Trisomy 17P
Urethral valve, Growth delay, Urethral stenosis, Short stature, Hypoplasia of penis, Intrauterine... ORPHA:261290
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Proteus-Like Syndrome
Hydrocephalus, Polycystic ovaries, Bronchogenic cyst, Anteverted nares, Communicating hydrocephalus ORPHA:2969
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Fused labia minora, Choanal atresia, Hypoplastic labia majora, Vaginal atresia, Hydrocephalus, De... OMIM:207410
Mental Retardation, Autosomal Dominant 35
Ventriculomegaly, Hydrocephalus OMIM:616355
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Prominent scrotal raphe, Ventriculomegaly, Choanal atresia, Hypoplastic labia majo... OMIM:123790
Hymen, Imperforate
Hydrocolpos, Imperforate hymen, Hematocolpos, Amenorrhea OMIM:237100
Alkuraya-Kucinskas Syndrome
Short nose, Anteverted nares, Ventriculomegaly, Scrotal hypoplasia, Micropenis, Hydrocephalus, De... OMIM:617822
16P13.2 Microdeletion Syndrome
Cryptorchidism, Ventriculomegaly, Short stature, Dilated third ventricle, Hypogonadism, Micropeni... ORPHA:500055
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Amelocerebrohypohidrotic Syndrome
Hydrocephalus, Short stature ORPHA:1946
Nasu-Hakola Disease
Ventriculomegaly, Hydrocephalus ORPHA:2770
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus, Hydrocephalus ORPHA:2736
Desmosterolosis
Ambiguous genitalia, male, Anteverted nares, Short nose, Rhizomelia, Ventriculomegaly, Hypoplasti... OMIM:602398
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Hydrocephalus, Short stature OMIM:615630
Thakker-Donnai Syndrome
Bulbous nose, Rectovaginal fistula, Intrauterine growth retardation, Tracheoesophageal fistula, A... ORPHA:1780
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hydrocephalus, Wide nasal bridge, Hypospadias OMIM:601499
Crouzon Disease
Choanal atresia, Hydrocephalus ORPHA:207
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Cole-Carpenter Syndrome 1
Short stature, Communicating hydrocephalus, Hydrocephalus OMIM:112240
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Hydrocephalus OMIM:310400
Multiple Sulfatase Deficiency
Ventriculomegaly, Increased CSF protein, Short stature, Anteverted nares, Hydrocephalus OMIM:272200
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis OMIM:307000
Methylcobalamin Deficiency Type Cble
Intrauterine growth retardation, Ventriculomegaly, Hydrocephalus, Postnatal growth retardation ORPHA:2169
Hydrolethalus Syndrome 1
Bifid uterus, Abnormal vagina morphology, Stillbirth, Bifid nose, Laryngeal hypoplasia, Arrhinenc... OMIM:236680
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus OMIM:614195
Oxoglutaric Aciduria
Hydrocephalus, Short stature ORPHA:31
Thanatophoric Dysplasia Type 1
Lethal short-limbed short stature, Ventriculomegaly, Aplasia/Hypoplasia of the lungs, Hydrocephal... ORPHA:1860
Cole-Carpenter Syndrome 2
Short stature, Hydrocephalus, Postnatal growth retardation OMIM:616294
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Anteverted nares, Communicating hydrocephalus, Short stature, Depressed nasal bridge ORPHA:1064
Popov-Chang syndrome
Short stature, Long nose, Anteverted nares, Hydrocephalus, Depressed nasal bridge OMIM:618428
Dextrocardia
Abnormal reproductive system morphology, Abnormal pulmonary situs morphology, Abnormality of the ... ORPHA:1666
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Czeizel-Losonci Syndrome
Spina bifida, Pulmonary hypoplasia, Spina bifida occulta, Tracheoesophageal fistula, Myelomeningo... ORPHA:2437
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Coach Syndrome 2
Hydrocephalus OMIM:619111
Tetrasomy 5P
Short nose, Recurrent respiratory infections, Postnatal growth retardation, Wide nasal bridge, Pu... ORPHA:3309
Nephronophthisis 18
Hydrocephalus OMIM:615862
Pfeiffer Syndrome
Short nose, Choanal atresia, Cartilaginous trachea, Bronchomalacia, Hydrocephalus, Depressed nasa... OMIM:101600
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Cryptorchidism, Bulbous nose, Choanal atresia, Delayed puberty, Increased size of the clitoris, M... ORPHA:95699
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydranencephaly, Short s... ORPHA:2839
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Colpocephaly, Communicating hydrocephalus, Bulbous nose OMIM:615219
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cryptorchidism, Short nose, Ventriculomegaly, Hypoplasia of penis, Hydrocephalus, Depressed nasal... ORPHA:1812
Meckel Syndrome, Type 4
Anencephaly, Meningocele, Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation OMIM:611134
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Jacobsen Syndrome
Cryptorchidism, Short nose, Holoprosencephaly, Recurrent respiratory infections, Clitoral hypopla... OMIM:147791
Desmosterolosis
Ambiguous genitalia, Anomalous pulmonary venous return, Short nose, Ventriculomegaly, Growth dela... ORPHA:35107
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Craniopharyngioma
Proportionate short stature, Growth delay, Postnatal growth retardation, Delayed puberty, Hypogon... ORPHA:54595
Oculocerebrocutaneous Syndrome
Cryptorchidism, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:1647
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Short stature, Hydrocephalus, Dandy-Walker malformation, Depressed nasal bridge ORPHA:459061
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus, Depressed nasal bridge ORPHA:60040
1Q44 Microdeletion Syndrome
Ventriculomegaly, Hydrocephalus, Short stature, Growth delay ORPHA:238769
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Growth delay, Hydrocephalus, Short stature OMIM:259720
Plasminogen Deficiency, Type I
Abnormality of the larynx, Hydrocephalus, Dandy-Walker malformation, Recurrent upper respiratory ... OMIM:217090
Absent Radius-Anogenital Anomalies Syndrome
Rectovaginal fistula, Hydrocephalus, Perineal fistula ORPHA:3016
Lymphangioleiomyomatosis
Abnormal morphology of female internal genitalia, Emphysema, Recurrent respiratory infections, At... ORPHA:538
Albers-Schönberg Osteopetrosis
Hydrocephalus, Short stature ORPHA:53
Distal Tetrasomy 15Q
Hydrocele testis, Pulmonary hypoplasia, Intrauterine growth retardation, Hydrocephalus, Dandy-Wal... ORPHA:314588
Pfeiffer Syndrome Type 2
Short nose, Choanal atresia, Tracheomalacia, Aqueductal stenosis, Laryngomalacia, Hydrocephalus, ... ORPHA:93259
Campomelic Dysplasia
Disproportionate short-limb short stature, Sex reversal, Tracheobronchomalacia, Hydrocephalus, Ne... OMIM:114290
Achondroplasia
Disproportionate short stature, Rhizomelia, Short nasal bridge, Anteverted nares, Hydrocephalus, ... ORPHA:15
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Short stature ORPHA:1861
Multiple Sulfatase Deficiency
Anteverted nares, Hydrocephalus, Short stature, Depressed nasal bridge ORPHA:585
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Cryptorchidism, Bifid scrotum, Prominent scrotal raphe, Choanal atresia, Anteverted nares, Hydroc... ORPHA:1555
Cousin Syndrome
Disproportionate short stature, Ambiguous genitalia, male, Rhizomelia, Hydranencephaly, Ambiguous... OMIM:260660
Congenital Disorder Of Glycosylation, Type Iil
Intrauterine growth retardation, Ventriculomegaly, Hydrocephalus, Growth delay OMIM:614576
Joubert Syndrome 2
Hypoplastic male external genitalia, Enlarged fossa interpeduncularis, Hydrocephalus, Depressed n... OMIM:608091
Peho Syndrome
Short nose, Hydrocephalus, Ventriculomegaly, Anteverted nares, Recurrent respiratory infections ORPHA:2836
Coccidioidomycosis
Pulmonary infiltrates, Parenchymal consolidation, Exudative pleural effusion, CSF lymphocytic ple... ORPHA:228123
Mucopolysaccharidosis, Type Vii
Short stature, Hydrocephalus, Postnatal growth retardation, Recurrent upper respiratory tract inf... OMIM:253220
Fanconi Anemia
Cryptorchidism, Spina bifida, Abnormal preputium morphology, Azoospermia, Abnormality of the uter... ORPHA:84
Icf Syndrome
Recurrent respiratory infections, Communicating hydrocephalus, Short stature, Depressed nasal bridge ORPHA:2268
Fg Syndrome Type 1
Cryptorchidism, Ventriculomegaly, Choanal atresia, Short stature, Hypospadias, Hydrocephalus, Pro... ORPHA:93932
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220219
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Tenorio Syndrome
Ventriculomegaly, Pneumonia, Anteverted nares, Hydrocephalus, Wide nose OMIM:616260
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Stillbirth, Postnatal growth retardation, Short stature, Hypospadias, Hydrocephal... OMIM:304120
Mucopolysaccharidosis, Type Ii
Mild short stature, Severe short stature, Tracheobronchomalacia, Short stature, Hydrocephalus OMIM:309900
Hemangioblastoma
Hydrocephalus ORPHA:252054
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus, Underdeveloped nasal alae, Prominent nose ORPHA:2378
Intellectual Developmental Disorder, Autosomal Dominant 65
Anteverted nares, Bulbous nose, Noncommunicating hydrocephalus, Wide nasal bridge OMIM:619320
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Thin anteverted nares, Postnatal growth retardation, Intraute... ORPHA:2306
Pseudotrisomy 13 Syndrome
Cryptorchidism, Holoprosencephaly, Bicornuate uterus, Micropenis, Hydrocephalus OMIM:264480
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Arnold-Chiari Malformation Type Ii
Ventriculomegaly, Pneumonia, Aqueductal stenosis, Meningocele, Myelomeningocele, Hydrocephalus ORPHA:1136
Apert Syndrome
Cryptorchidism, Anomalous tracheal cartilage, Ventriculomegaly, Choanal atresia, Vaginal atresia,... OMIM:101200
Gracile Bone Dysplasia
Micropenis, Hydrocephalus, Short stature OMIM:602361
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus OMIM:207950
7Q11.23 Microduplication Syndrome
Cryptorchidism, Ventriculomegaly, Growth delay, Aplasia/Hypoplasia of the fallopian tube, Tracheo... ORPHA:96121
Thoracoabdominal Syndrome
Hypospadias, Pulmonary hypoplasia, Hydrocephalus, Anencephaly OMIM:313850
Whipple Disease
Erectile dysfunction, Pleuritis, Hydrocephalus ORPHA:3452
Griscelli Syndrome
Hydrocephalus, Short stature ORPHA:381
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Ventriculomegaly, Hydrocephalus ORPHA:370959
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Peripheral pulmonary artery stenosis, Hydrocephalus, Dandy-Walker malformation OMIM:613001
Walker-Warburg Syndrome
Cryptorchidism, Ventriculomegaly, Hypoplasia of penis, Hydrocephalus, Dandy-Walker malformation ORPHA:899
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Pulmonary hypoplasia, Micropenis, Hydrocephalus, Depressed nasal bridge OMIM:616546
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Hydrocephalus OMIM:618476
Acrofacial Dysostosis 1, Nager Type
Laryngeal hypoplasia, Aqueductal stenosis, Bicornuate uterus, Hypoplasia of the epiglottis, Short... OMIM:154400
Smith-Lemli-Opitz Syndrome
Ambiguous genitalia, Cryptorchidism, Bifid scrotum, Anteverted nares, Holoprosencephaly, Growth d... OMIM:270400
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Underdeveloped nasal alae, Choanal atresia, Short stature, Tracheal stenosis, Hyp... ORPHA:163979
Exstrophy-Epispadias Complex
Cryptorchidism, Spina bifida, Bifid uterus, Bifid scrotum, Female sexual dysfunction, Penoscrotal... ORPHA:322
Arachnoiditis
Hydrocephalus ORPHA:137817
Pycnodysostosis
Hydrocephalus, Short stature ORPHA:763
Pentalogy Of Cantrell
Hypospadias, Pulmonary hypoplasia, Hydrocephalus, Anencephaly ORPHA:1335
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Ventriculomegaly, Anteverted nares, Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Oeis Complex
Cryptorchidism, Bifid uterus, Absent scrotum, Ambiguous genitalia, male, Ambiguous genitalia, fem... OMIM:258040
Hurler Syndrome
Recurrent respiratory infections, Short stature, Broad nasal tip, Anteverted nares, Hydrocephalus... OMIM:607014
Apert Syndrome
Ovarian neoplasm, Ventriculomegaly, Choanal atresia, Hydrocephalus, Depressed nasal bridge ORPHA:87
Raine Syndrome
Short nose, Choanal atresia, Neonatal death, Pulmonary hypoplasia, Short stature, Hydrocephalus, ... OMIM:259775
Muenke Syndrome
Hydrocephalus ORPHA:53271
Cerebrooculonasal Syndrome
Short nose, Anteverted nares, Proboscis, Hypoplastic male external genitalia, Prominent nasal bri... OMIM:605627
Short-Rib Thoracic Dysplasia 12
Ambiguous genitalia, Holoprosencephaly, Anencephaly, Atelectasis, Neonatal death, Pulmonary hypop... OMIM:269860
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Hypergonadotropic hypogonadism, Short stature, Tracheoesophageal fistula, Micrope... OMIM:227646
Joubert Syndrome With Oculorenal Defect
Prominent nasal bridge, Anteverted nares, Hydrocephalus ORPHA:2318
Marfanoid-Progeroid-Lipodystrophy Syndrome
Asymmetric ventricles, Intrauterine growth retardation, Prominent nasal bridge, Hydrocephalus, Na... OMIM:616914
Joubert Syndrome With Renal Defect
Prominent nasal bridge, Anteverted nares, Hydrocephalus ORPHA:220497
Fraser Syndrome 1
Cryptorchidism, Laryngeal atresia, Underdeveloped nasal alae, Midline nasal groove, Subglottic st... OMIM:219000
Joubert Syndrome
Prominent nasal bridge, Anteverted nares, Hydrocephalus ORPHA:475
Lhermitte-Duclos Disease
Hydrocephalus, Ovarian neoplasm ORPHA:65285
Aymé-Gripp Syndrome
Cryptorchidism, Short nose, Ventriculomegaly, Postnatal growth retardation, Short stature, Hydroc... ORPHA:1272
Dubowitz Syndrome
Cryptorchidism, Postnatal growth retardation, Abnormality of female external genitalia, Short sta... ORPHA:235
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short nose, Short stature, Hypoplasia of the ovary, Intrauterine growth retardation, Decreased te... OMIM:619321
Meckel Syndrome, Type 1
Cryptorchidism, Abnormality of the uterus, Ambiguous genitalia, male, Abnormality of the larynx, ... OMIM:249000
Facial Dysmorphism With Multiple Malformations
Bulbous nose, Short nose, Wide nasal bridge, Rectovaginal fistula, Intrauterine growth retardatio... OMIM:227255
Orofaciodigital Syndrome I
Ovarian cyst, Underdeveloped nasal alae, Wide nasal bridge, Short stature, Myelomeningocele, Hydr... OMIM:311200
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Short nose, Long nose, Hydrocephalus, Depressed nasal bridge OMIM:618590
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Ambiguous genitalia, Holoprosencephaly, Hypoplasia of penis, Hypospadias, Hydroce... ORPHA:2166
Hyperphosphatasia With Mental Retardation Syndrome 1
Short nose, Hydrocephalus, Wide nasal bridge, Broad nasal tip OMIM:239300
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Abnormal penis morphology, Choanal atresia, Severe short stature, External genita... ORPHA:2658
Congenital Sialidosis Type 2
Respiratory tract infection, Hydrocephalus ORPHA:93400
Monosomy 18Q
Bulbous nose, Growth delay, Bilateral cryptorchidism, Short stature, Prominent nose, Micropenis, ... ORPHA:1600
Acquired Aneurysmal Subarachnoid Hemorrhage
Increased CSF lactate, Hyperglycorrhachia, Hydrocephalus ORPHA:90065
Meckel Syndrome, Type 3
Hydrocephalus, Dandy-Walker malformation OMIM:607361
Opitz-Kaveggia Syndrome
Cryptorchidism, Abnormal nasopharynx morphology, Choanal atresia, Short stature, Hypospadias, Hyd... OMIM:305450
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Mucopolysaccharidosis, Type Vi
Recurrent upper respiratory tract infections, Disproportionate short-trunk short stature, Hydroce... OMIM:253200
Pituitary Deficiency Due To Rathke Cleft Cysts
Hypogonadotropic hypogonadism, Abnormality of the sphenoid sinus, Hydrocephalus ORPHA:91350
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Hydrocephalus OMIM:219730
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus OMIM:603387
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Bulbous nose, Wide nasal bridge, Short stature, Intrauterine growth retardation, ... ORPHA:250989
Joubert Syndrome With Ocular Defect
Prominent nasal bridge, Anteverted nares, Hydrocephalus ORPHA:220493
Otopalatodigital Syndrome Type 2
Short nose, Hypoplastic frontal sinuses, Pulmonary hypoplasia, Hypospadias, Myelomeningocele, Hyd... ORPHA:90652
Mucopolysaccharidosis Type 1
Hydrocephalus, Recurrent respiratory infections, Short stature, Sinusitis, Abnormal nasal morphol... ORPHA:579
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Short stature ORPHA:2720
Mohr Syndrome
Broad nasal tip, Hydrocephalus, Short stature, Depressed nasal bridge OMIM:252100
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Severe short stature, Hydrocephalus, Neonatal short-limb short stature OMIM:224400
Turner Syndrome Due To Structural X Chromosome Anomalies
Abnormality of the ovary, Gonadoblastoma, Growth delay, Postnatal growth retardation, Primary ame... ORPHA:99413
Turner Syndrome
Abnormality of the ovary, Gonadoblastoma, Growth delay, Postnatal growth retardation, Primary ame... ORPHA:881
Mosaic Monosomy X
Abnormality of the ovary, Gonadoblastoma, Growth delay, Postnatal growth retardation, Primary ame... ORPHA:99228
Monosomy X
Abnormality of the ovary, Gonadoblastoma, Growth delay, Postnatal growth retardation, Primary ame... ORPHA:99226
Cryptococcosis
Prostatitis, Pleural effusion, Pneumonia, Nodular pattern on pulmonary HRCT, Hydrocephalus ORPHA:1546
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus OMIM:273730
Microphthalmia With Linear Skin Defects Syndrome
Ambiguous genitalia, Abnormal testis morphology, Abnormal penis morphology, Growth delay, Clitora... ORPHA:2556
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation, Depressed nasal bridge OMIM:612582
Cardiofaciocutaneous Syndrome
Cryptorchidism, Short nose, Short stature, Anteverted nares, Hydrocephalus, Depressed nasal bridge ORPHA:1340
Holoprosencephaly 7
Semilobar holoprosencephaly, Absent nasal septal cartilage, Short nose, Alobar holoprosencephaly,... OMIM:610828
Hajdu-Cheney Syndrome
Cryptorchidism, Short stature, Hypospadias, Absent frontal sinuses, Anteverted nares, Hydrocephal... OMIM:102500
Cockayne Syndrome A
Cryptorchidism, Slender nose, Normal pressure hydrocephalus, Irregular menstruation, Intrauterine... OMIM:216400
Mycophenolate Mofetil Embryopathy
Bifid nose, Tracheoesophageal fistula, Hydrocephalus, Tracheomalacia ORPHA:268249
Hurler Syndrome
Growth delay, Recurrent respiratory infections, Wide nasal bridge, Short stature, Anteverted nare... ORPHA:93473
Monosomy 9Q22.3
Ovarian fibroma, Ventriculomegaly, Hydrocephalus, Short nose ORPHA:77301
Adams-Oliver Syndrome
Pulmonary artery atresia, Hydrocephalus ORPHA:974
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus, Wide nasal bridge, Depressed nasal bridge OMIM:104350
Trisomy 8P
Cryptorchidism, Abnormal lung lobation, Short nose, Anteverted nares, Recurrent upper respiratory... ORPHA:264450
Mend Syndrome
Cryptorchidism, Abnormal nasal bridge morphology, Short stature, Prominent nasal bridge, Hydrocep... ORPHA:401973
Koolen-De Vries Syndrome Due To A Point Mutation
Pear-shaped nose, Cryptorchidism, Spina bifida, Bulbous nose, Underdeveloped nasal alae, Ventricu... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Pear-shaped nose, Cryptorchidism, Spina bifida, Bulbous nose, Underdeveloped nasal alae, Ventricu... ORPHA:363958
Basal Cell Nevus Syndrome
Spina bifida, Wide nasal bridge, Ovarian carcinoma, Ovarian fibroma, Hydrocephalus OMIM:109400
Cardiofaciocutaneous Syndrome 1
Bulbous nose, Short nose, Short stature, Anteverted nares, Hydrocephalus, Depressed nasal bridge OMIM:115150
Cole-Carpenter Syndrome
Intrauterine growth retardation, Communicating hydrocephalus, Short stature ORPHA:2050
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Stromme Syndrome
Prominent nasal bridge, Hydrocephalus, Stillbirth, Wide nasal bridge OMIM:243605
Iniencephaly
Spina bifida, Holoprosencephaly, Rhizomelia, Spinal dysraphism, Anencephaly, Myelomeningocele, Hy... ORPHA:63259
Holoprosencephaly
Cryptorchidism, Holoprosencephaly, Spinal dysraphism, Choanal atresia, Aplasia/Hypoplasia of the ... ORPHA:2162
Hereditary Cryohydrocytosis With Reduced Stomatin
Short stature, Hypoglycorrhachia, Communicating hydrocephalus, Postnatal growth retardation ORPHA:168577
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Holoprosencephaly 9
Cryptorchidism, Holoprosencephaly, Short stature, Single naris, Micropenis, Hydrocephalus, Depres... OMIM:610829
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Ventriculomegaly, Hydrocephalus OMIM:616538
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Short nose, Tracheomalacia, Postnatal growth retardation, Atelectasis, Repeated pneumothoraces, P... ORPHA:536467
22Q11.2 Deletion Syndrome
Cryptorchidism, Spina bifida, Abnormality of the uterus, Abnormal lung lobation, Bulbous nose, Ar... ORPHA:567
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Postnatal growth retardation, Dilation of lateral ventricles, Normal pressure hydrocephalus ORPHA:300570
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, Stillbirth, Pulmonary hypoplasia, Intrauterine growth retardation, Hydrocephalus OMIM:208150
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Osteopathia Striata With Cranial Sclerosis
Tracheomalacia, Paranasal sinus hypoplasia, Wide nasal bridge, Laryngeal web, Short stature, Spin... OMIM:300373
15Q Overgrowth Syndrome
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation, Wide nasal bridge ORPHA:314585
Peters Plus Syndrome
Cryptorchidism, Short nose, Rhizomelia, Ventriculomegaly, Abnormal pulmonary vein morphology, Hyp... ORPHA:709
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Azoospermia, Pulmonary fibrosis, Growth delay, Ventriculomegaly, Abnormal pulmonary interstitial ... ORPHA:2072
Medulloblastoma
Hydrocephalus, Neoplasm of the lung ORPHA:616
Meckel Syndrome
Urethral atresia, Cryptorchidism, Ambiguous genitalia, Anencephaly, Lobar holoprosencephaly, Male... ORPHA:564
Roberts-Sc Phocomelia Syndrome
Cryptorchidism, Narrow naris, Long penis, Stillbirth, Underdeveloped nasal alae, Severe intrauter... OMIM:268300
Osteopetrosis, Autosomal Recessive 7
Growth delay, Hydrocephalus, Dilation of lateral ventricles, Recurrent pneumonia OMIM:612301
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Anteverted nares, Hydrocephalus OMIM:182212
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Hydrocephalus OMIM:618162
Fontaine Progeroid Syndrome
Cryptorchidism, Short nose, Scrotal hypoplasia, Hypoplastic labia majora, Neonatal death, Pulmona... OMIM:612289
Marden-Walker Syndrome
Abnormal penis morphology, Growth delay, Severe short stature, Hypospadias, Intrauterine growth r... ORPHA:2461
Histiocytoid Cardiomyopathy
Pulmonary edema, Laryngeal web, Hydrocephalus, Polycystic ovaries ORPHA:137675
Kabuki Syndrome
Cryptorchidism, Ventriculomegaly, Short stature, Hypoplasia of penis, Hypospadias, Precocious pub... ORPHA:2322
Familial Lambdoid Synostosis
Hydrocephalus ORPHA:3267
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Rhizomelia, Hydrocephalus, Short stature, Depressed nasal bridge OMIM:245600
Hajdu-Cheney Syndrome
Recurrent respiratory infections, Wide nasal bridge, Delayed puberty, Short stature, Hypospadias,... ORPHA:955
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cryptorchidism, Ventriculomegaly, Hypoplastic male external genitalia, Hydrocephalus, Dandy-Walke... OMIM:236670
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus, Short stature ORPHA:220295
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hypogonadism, Bilateral cryptorchidism, Hydrocephalus, Short stature ORPHA:3042
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ventriculomegaly, Hydrocephalus ORPHA:395
Baller-Gerold Syndrome
Underdeveloped nasal alae, Perineal fistula, Rectovaginal fistula, Short stature, Spina bifida oc... OMIM:218600
Wolf-Hirschhorn Syndrome
Cryptorchidism, Aplasia of the uterus, Ventriculomegaly, Growth delay, Wide nasal bridge, Short s... OMIM:194190
Shprintzen-Goldberg Syndrome
Cryptorchidism, Ventriculomegaly, Anteverted nares, Communicating hydrocephalus ORPHA:2462
Alexander Disease
Precocious puberty, Hydrocephalus, Aqueductal stenosis ORPHA:58
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Ventriculomegaly, Prominent nasal bridge, Hydrocephalus OMIM:617011
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:614643
Cockayne Syndrome B
Cryptorchidism, Slender nose, Normal pressure hydrocephalus, Severe short stature, Postnatal grow... OMIM:133540
Mucopolysaccharidosis Type 3
Respiratory tract infection, Ventriculomegaly, Recurrent sinopulmonary infections, Aspiration pne... ORPHA:581
Glutaryl-Coa Dehydrogenase Deficiency
Ventriculomegaly, Subependymal nodules, Communicating hydrocephalus ORPHA:25
Tetrasomy 9P
Infertility, Cryptorchidism, Bulbous nose, Oligospermia, Pulmonary hypoplasia, Intrauterine growt... ORPHA:3310
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short nose, Recurrent respiratory infections, Hydrocephalus ORPHA:505248
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Holoprosencephaly, Hydrocephalus OMIM:253800
Yunis-Varon Syndrome
Cryptorchidism, Anteverted nares, Arrhinencephaly, Clitoral hypertrophy, Postnatal growth retarda... ORPHA:3472
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Ventriculomegaly, Hydrocephalus OMIM:613150
Meningioma
Hypogonadotropic hypogonadism, Impotence, Hydrocephalus, Amenorrhea ORPHA:2495
Distal 22Q11.2 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Bulbous nose, Wide nose ORPHA:261337
Microphthalmia With Limb Anomalies
Cryptorchidism, Arrhinencephaly, Short stature, Hydrocephalus, Depressed nasal bridge ORPHA:1106
Gaucher Disease
Pulmonary fibrosis, Ventriculomegaly, Abnormal pulmonary interstitial morphology, Delayed puberty... ORPHA:355
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Ventriculomegaly, Hydrocephalus ORPHA:228308
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Long penis, Recurrent respiratory infections, Short stature, Intrauterine growth ... OMIM:264090
Peters-Plus Syndrome
Cryptorchidism, Rhizomelia, Ventriculomegaly, Hypoplasia of the uterus, Postnatal growth retardat... OMIM:261540
Pseudoaminopterin Syndrome
Cryptorchidism, Prominent nasal bridge, Hydrocephalus, Short stature ORPHA:221120
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Growth delay, Communicating hydrocephalus OMIM:616084
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Knobloch Syndrome
Hydrocephalus, Depressed nasal bridge ORPHA:1571
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Intrauterine growth retardation, Growth delay, Hydrocephalus ORPHA:79282
Focal Dermal Hypoplasia
Cryptorchidism, Broad nasal tip, Abnormality of the larynx, Clitoral hypoplasia, Short stature, S... OMIM:305600
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus ORPHA:157
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus, Chylothorax ORPHA:137667
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Costello Syndrome
Ventriculomegaly, Tracheomalacia, Short stature, Bronchomalacia, Anteverted nares, Hydrocephalus,... OMIM:218040
Joubert Syndrome With Hepatic Defect
Prominent nasal bridge, Anteverted nares, Hydrocephalus ORPHA:1454
Neurofibromatosis, Type I
Short stature, Spina bifida, Hydrocephalus, Aqueductal stenosis OMIM:162200
Limb Body Wall Complex
Spina bifida, Choanal atresia, Anencephaly, Wide nasal bridge, Spina bifida occulta, Myelomeningo... ORPHA:2369
Osteogenesis Imperfecta
Rhizomelia, Ventriculomegaly, Growth delay, Pulmonary hypoplasia, Short stature, Intrauterine gro... ORPHA:666
Hemifacial Microsomia
Pulmonary hypoplasia, Hydrocephalus OMIM:164210
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Lipomyelomeningocele, Hydrocephalus ORPHA:268810
Semilobar Holoprosencephaly
Growth delay, Neural tube defect, Proboscis, Aspiration pneumonia, Short stature, Single naris, H... ORPHA:220386
Alobar Holoprosencephaly
Growth delay, Neural tube defect, Proboscis, Aspiration pneumonia, Short stature, Single naris, H... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Growth delay, Neural tube defect, Proboscis, Aspiration pneumonia, Short stature, Single naris, H... ORPHA:93926
Lobar Holoprosencephaly
Growth delay, Neural tube defect, Proboscis, Aspiration pneumonia, Short stature, Single naris, H... ORPHA:93924
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Prominent nasal bridge, Ventriculomegaly, Micropenis, Communicating hydrocephalus ORPHA:457359
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Neurofibromatosis Type 1
Cryptorchidism, Delayed puberty, Short stature, Precocious puberty, Hydrocephalus ORPHA:636
Autosomal Recessive Malignant Osteopetrosis
Growth delay, Recurrent respiratory infections, Hydrocephalus, Pulmonary artery stenosis ORPHA:667
Alpha-Mannosidosis, Infantile Form
Abnormality of the sphenoid sinus, Communicating hydrocephalus, Pneumonia, Depressed nasal bridge ORPHA:309282
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Growth delay, Severe intrauterine growth retardation, Intrauterine growth retarda... ORPHA:3455
Mucopolysaccharidosis Type 2
Recurrent upper respiratory tract infections, Growth delay, Wide nasal bridge, Short stature, Com... ORPHA:580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Short nasal bridge, Ventriculomegaly, Hydrocephalus OMIM:253280
Coffin-Siris Syndrome 12
Cryptorchidism, Bulbous nose, Underdeveloped nasal alae, Short stature, Hypospadias, Prominent na... OMIM:619325
Simpson-Golabi-Behmel Syndrome, Type 1
Cryptorchidism, Abnormal lung lobation, Short nose, Wide nasal bridge, Hypospadias, Anteverted na... OMIM:312870
Tuberous Sclerosis Complex
Respiratory tract infection, Hemoptysis, Pulmonary lymphangiomyomatosis, Subependymal nodules, No... ORPHA:805
Chromosome 1P36 Deletion Syndrome
Cryptorchidism, Abnormal lung lobation, Growth delay, Wide nasal bridge, Depressed nasal bridge, ... OMIM:607872
Neurofibromatosis Type 2
Hydrocephalus ORPHA:637
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormality of the sphenoid sinus, Hydrocephalus, Short stature, Sinusitis ORPHA:363700
Loeys-Dietz Syndrome 1
Pulmonary artery aneurysm, Hydrocephalus OMIM:609192
Loeys-Dietz Syndrome 2
Spontaneous pneumothorax, Pulmonary artery aneurysm, Hydrocephalus OMIM:610168
Split Cord Malformation
Cervical spina bifida, Meningocele, Hypospadias, Lipomyelomeningocele, Myelomeningocele, Hydrocep... ORPHA:573278
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780

Histopathology

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

There is no histopathology data for Kif19a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Kif19a.

No publications found that use IMPC mice or data for Kif19a.

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MGI Allele Allele Type Produced
Kif19atm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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