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Gene: Kif3a MGI:107689

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
kinesin family member 3A
Synonyms:
Kif3,  N-4 kinesin,  kinesin-II subunit,  Kns3,  Kifl

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Kif3a 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 Kif3a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spastic Paraplegia 25, Autosomal Recessive
Spinal cord compression OMIM:608220
Craniofacial Conodysplasia
Spinal cord compression ORPHA:85168
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus, Trapezius muscle aplasia OMIM:600257
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Pericardial effusion OMIM:613885
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Pleural effusion, Intrauterine growth retardation, Hypertroph... OMIM:614702
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ... OMIM:239850
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Congenital Heart Block
Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edema, Endocardial fi... ORPHA:60041
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Ossification Of The Posterior Longitudinal Ligament Of Spine
Spinal cord compression, Myelopathy OMIM:602475
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Frontal... ORPHA:261102
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Hydrocephalus, Congenital, 3, With Brain Anomalies
Polyhydramnios, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation, Ven... OMIM:617967
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... ORPHA:1041
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Tetralogy of Fallot, Arthrogryposis multiplex congenita ORPHA:250994
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Congenital Disorder Of Glycosylation, Type Iid
Myopathy, Hydrocephalus, Decreased muscle mass, Dandy-Walker malformation OMIM:607091
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion, Cryptorchidism OMIM:614684
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Ascites, Abnormal cardiac septum morphology, Edema OMIM:608776
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Congenital muscular dystrophy, Ventriculomegaly ORPHA:324416
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Chylopericardium, Pulmonic stenosis, Pleural effusion, Ascites ORPHA:2414
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly, Abnormal heart morphology ORPHA:2185
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Edema, Pericardial effusion, Hydrocephalus, Camptodactyly, Arthrogryposis multi... OMIM:617822
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Verheij Syndrome
Branchial cyst, Ventricular septal defect, Short neck, Clinodactyly, Short 5th finger, Intrauteri... OMIM:615583
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Congenital Toxoplasmosis
Cardiomegaly, Hydrocephalus, Intrauterine growth retardation, Ascites, Ventriculomegaly ORPHA:858
X-Linked Mandibulofacial Dysostosis
Cryptorchidism, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morphology ORPHA:1131
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Congenital Enterovirus Infection
Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, CSF lymphocyti... ORPHA:292
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... OMIM:611134
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pulmonary edema, Cardiomegaly, Pericardial effusion, Muscular ventricula... OMIM:115197
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Campt... OMIM:175700
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr... OMIM:261740
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Hydrocephalus, Dilated cardiomy... ORPHA:272
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P... OMIM:235510
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Hydrocephalus, Flexion contracture, Cardiomyopathy, Macroglossia, Calf muscle hyper... OMIM:613155
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus, Cardiomegaly OMIM:300886
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Thanatophoric Dysplasia Type 2
Encephalocele, Polyhydramnios, Hydrocephalus, Patent ductus arteriosus, Increased nuchal transluc... ORPHA:93274
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects, Atrial septal... OMIM:620070
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Patent ductus arteriosus, Umbilical hernia, Hydrocephalus ORPHA:1516
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... ORPHA:1908
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Flexion contracture OMIM:300884
Congenital Tricuspid Valve Dysplasia
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... ORPHA:555874
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Pericardial effusion, Angioedema, Pleural effusion, Ascites ORPHA:36412
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Mitral valve prolapse ORPHA:2183
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short distal phalanx of finger OMIM:609166
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Polyhydramnios, Endocardial fibroelastosis OMIM:600559
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus, Bicuspid aortic valve, Aortic valve stenosis OMIM:615599
Fried Syndrome
Skeletal muscle atrophy, Hydrocephalus ORPHA:85335
Aicardi-Goutieres Syndrome 9
Pericarditis, Edema, Pericardial effusion, Lower limb hypertonia, Lateral ventricle dilatation, L... OMIM:619487
Diabetic Embryopathy
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the abdominal wal... ORPHA:1926
Infantile Sialic Acid Storage Disease
Hydrocephalus, Ascites, Hydrops fetalis, Cardiomegaly OMIM:269920
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis ORPHA:231111
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy OMIM:620089
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Hydrocephalus, Congenital diaphragmatic hernia ORPHA:380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Muscular dystrophy, Ventriculomegaly OMIM:614830
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Triploidy
Polyhydramnios, Cryptorchidism, Hydrocephalus, Meningocele, Macroglossia, Abnormal cardiac septum... ORPHA:3376
Muscle-Eye-Brain Disease
Myopathy, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Elbow flexion contracture OMIM:619470
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Polyhydramnios, Hypoplasia of the musculature, Hydrocephalus, Hydranencephaly, ... OMIM:225790
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Calf muscle pseudohypertrophy, Hypoglycosylati... ORPHA:370959
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Hypoplastic left heart, ... OMIM:220210
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth, Abnormal heart morphology OMIM:276950
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Bicuspid aortic valve ORPHA:397951
Ciliary Dyskinesia, Primary, 14
Situs inversus totalis, Heterotaxy, Abnormal axonemal organization of respiratory motile cilia, A... OMIM:613807
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular s... OMIM:618775
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Umbilical her... OMIM:612938
Kleeblattschaedel
Hydrocephalus OMIM:148800
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventricular canal defect, Common ... ORPHA:1330
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventricular septal defect, Ventriculomegaly OMIM:602501
Hb Bart'S Hydrops Fetalis
Pericarditis, Polyhydramnios, Hydrocephalus, Hydrops fetalis, Oligohydramnios ORPHA:163596
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Unil... OMIM:618280
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Patent ductus arteriosus, Hydrocephalus, Aortic valve stenosis, Dandy-W... OMIM:220220
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Finger syndactyly, Tapered finger, Cryptorchidism, Camptodactyly ORPHA:435938
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Limb muscle weakness OMIM:207950
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Situs inversus totalis, Absent outer dynein arms, Patent ductus arteriosus, Azoos... OMIM:618300
Vitamin K Antagonist Embryofetopathy
Macroglossia, Intrauterine growth retardation, Myelomeningocele, Hydrocephalus ORPHA:1914
Cardiomyopathy, Dilated, 1A
Pericardial effusion, Dilated cardiomyopathy OMIM:115200
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Acute Interstitial Pneumonia
Pericardial effusion, Pleural effusion, Peripheral edema ORPHA:79126
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, ... ORPHA:453499
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Pediatric Systemic Lupus Erythematosus
Myositis, Edema, Pericardial effusion, Pleural effusion, Ascites ORPHA:93552
Primary Intestinal Lymphangiectasia
Edema, Pericardial effusion, Pleural effusion, Ascites, Generalized edema ORPHA:90362
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Pentalogy Of Cantrell
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmat... ORPHA:1335
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal lower limb amyotrophy, Hand muscle weakness, Quadriceps muscle weakness, Hydrocephalus, Fl... ORPHA:99947
Thanatophoric Dysplasia
Polyhydramnios, Hydrocephalus, Patent ductus arteriosus, Increased nuchal translucency, Atrial se... ORPHA:2655
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus,... ORPHA:2437
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hydrocephalus, Muscular dystrophy, Left ventricular hypertrophy, Dandy-Walker m... OMIM:613153
Congenital Disorder Of Glycosylation, Type Ia
Dilated fourth ventricle, Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, F... OMIM:212065
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Pericardial effusion, Abnormal myocardium morphology, Dilated cardiomyopathy, Muscular dystrophy ORPHA:300751
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Exercise-induced rhabdomyolysis, Ventricular septal defect, Pericardial effusion, Dilated cardiom... ORPHA:26793
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Patent ductus arteriosus, Umbilical hernia, Hydrocephalus, Cryptorchidism ORPHA:171839
Gaucher Disease Type 1
Pericardial effusion, Abnormal myocardium morphology, Ascites, Pedal edema ORPHA:77259
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis, Cryptorchidism ORPHA:2701
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Umbilical hernia, Hydrocephalus, Abnormal heart morphology OMIM:601499
Aymé-Gripp Syndrome
Pericarditis, Congenital diaphragmatic hernia, Pericardial effusion, Cryptorchidism, Patent ductu... ORPHA:1272
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Umbilical hernia, Hydrocephalus ORPHA:2181
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Osteolytic defects of the distal phalanges of the hand, Short ... ORPHA:50815
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Dextrocardia, Proximal placement of thumb, Polyhydramnios, Absent radius, Hydrocep... OMIM:314390
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Ventriculomegaly OMIM:218350
Aicardi-Goutieres Syndrome 4
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Hydrocephalus, Anencephaly, Transposit... OMIM:313850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Skeletal muscle atrophy, Hydrocephalus, Dilated cardiomyopathy, Flexion contractur... OMIM:253800
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Intrauter... OMIM:616034
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Umbilical hernia, Cryptorchidism, Mitral valve prolapse ORPHA:536532
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydrocephalus ORPHA:251046
Poems Syndrome
Pericardial effusion, Pleural effusion, Ascites, Edema ORPHA:2905
Aase-Smith Syndrome I
Hydrocephalus, Flexion contracture, Ventricular septal defect, Dandy-Walker malformation OMIM:147800
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Bowing of the long bones, Toe syndactyly, Ventricular septal defect, Arachnoda... ORPHA:261330
Hec Syndrome
Communicating hydrocephalus, Polyhydramnios, Vaginal hydrocele, Cardiomyopathy, Endocardial fibro... ORPHA:2119
Emanuel Syndrome
Torticollis, Ventriculomegaly, Truncus arteriosus, Ventricular septal defect, Congenital diaphrag... OMIM:609029
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Cryptorchidism, Anasarca, Pleural effusion, Ascites OMIM:618183
Congenital Sialidosis Type 2
Edema, Hydrocephalus, Abnormal heart morphology, Umbilical hernia, Ascites ORPHA:93400
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Dandy-Walker malformation OMIM:614424
Spondylocostal Dysostosis 4, Autosomal Recessive
Dextrocardia, Situs inversus totalis, Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:613686
Tetrasomy 15Q26
Patent ductus arteriosus, Hydrocephalus, Camptodactyly, Atrial septal defect, Intrauterine growth... OMIM:614846
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Pleural effusion, Pedal edema, Pulmonary edema ORPHA:199241
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Renpenning Syndrome
Clinodactyly of the 5th finger, Heterotaxy, Abnormal thumb morphology, Decreased testicular size ORPHA:3242
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Crypto... ORPHA:2162
Alg3-Cdg
Neural tube defect, Abnormal limb bone morphology, Metaphyseal chondrodysplasia, Cardiomyopathy ORPHA:79321
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Atrial septal defect, Umbilic... OMIM:612582
Q Fever
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Endocarditis, P... ORPHA:781
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Ventricular septal defect, Hydrocephalus, Knee flexion contracture, Atri... OMIM:603387
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus OMIM:241800
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, H... OMIM:264480
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Central Precocious Puberty In Male
Hydrocephalus, Abnormality of the testis size ORPHA:649929
Alg9-Cdg
Torticollis, Ventricular septal defect, Hypoplasia of the musculature, Pericardial effusion, Hydr... ORPHA:79328
Griscelli Syndrome
Encephalocele, Hydrocephalus, Ascites, Pedal edema ORPHA:381
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atr... OMIM:306955
3C Syndrome
Ventriculomegaly, Ventricular septal defect, Abnormal mitral valve morphology, Hydrocephalus, Abn... ORPHA:7
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Hydrocephalus, Flexion contracture, Hydrops fetalis, Abnormal hear... ORPHA:1865
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect, Dehydration ORPHA:2260
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... ORPHA:2184
Gaucher Disease Type 3
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... ORPHA:77261
Trisomy 1Q
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern... ORPHA:261344
Double Outlet Right Ventricle
Ventricular septal defect, Double outlet right ventricle, Heterotaxy, Hypoplastic left heart, Pul... ORPHA:3426
Congenital Disorder Of Glycosylation, Type Iil
Peau d'orange, Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Atrial septal ... OMIM:614576
Blepharocheilodontic Syndrome 1
Neural tube defect, Clinodactyly, Cutaneous syndactyly OMIM:119580
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventricular septal defect, Ventriculomegaly OMIM:615630
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:618577
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Adams-Oliver Syndrome
Encephalocele, Abnormal pulmonary valve morphology, Hydrocephalus, Tetralogy of Fallot, Ascites ORPHA:974
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Hydrops fetalis, Atr... OMIM:616546
Lymphangioleiomyomatosis
Lymphedema, Hydrocephalus, Chylopericardium, Chylothorax, Ascites ORPHA:538
Emanuel Syndrome
Ventriculomegaly, Multiple joint contractures, Truncus arteriosus, Ventricular septal defect, Con... ORPHA:96170
Hydrolethalus
Cryptorchidism, Hydrocephalus, Anencephaly, Polyhydramnios ORPHA:2189
Kaposiform Lymphangiomatosis
Pericardial effusion, Pleural effusion ORPHA:464329
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Hydromyelia, Occipital meni... ORPHA:268810
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Postaxial polydactyly, Cryptorchidism, Increase... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Postaxial polydactyly, Cryptorchidism, Increase... ORPHA:352665
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse, Right... OMIM:612863
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Abnormal cardiac septum morpholog... ORPHA:2075
Myopathy, Centronuclear, X-Linked
Facial palsy, Polyhydramnios, Cryptorchidism, Hydrocephalus, Flexion contracture, Diaphragmatic e... OMIM:310400
Lateral Meningocele Syndrome
Decreased muscle mass, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent d... OMIM:130720
Primary Ciliary Dyskinesia
Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Hydrocephalus, Anoma... ORPHA:244
Joubert Syndrome
Encephalocele, Hydrocephalus, Situs inversus totalis ORPHA:475
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Palpebral ... ORPHA:261337
Houge-Janssens Syndrome 1
Congenital muscular torticollis, Facial hypotonia, Hydrocephalus, Intrauterine growth retardation... OMIM:616355
Trisomy 17P
Skeletal muscle atrophy, Patent ductus arteriosus, Hydrocephalus, Flexion contracture, Macrogloss... ORPHA:261290
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly OMIM:304100
Joubert Syndrome With Ocular Defect
Encephalocele, Hydrocephalus, Dextrocardia ORPHA:220493
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Patent ductus arteriosus, Umbilical hernia, Hydrocephalus, Mitral valve prolapse OMIM:104350
Williams-Beuren Region Duplication Syndrome
Patent ductus arteriosus, Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:609757
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventricular septal defect, Ventriculomegaly, Polyhydramnios OMIM:219730
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect OMIM:243440
Iniencephaly
Encephalocele, Spina bifida, Polyhydramnios, Congenital diaphragmatic hernia, Myelomeningocele, H... ORPHA:63259
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Temple Syndrome
Cryptorchidism, Hydrocephalus, Flexion contracture, Intrauterine growth retardation, Decreased te... OMIM:616222
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Distal Triplication 15Q
Hydrocephalus, Patent ductus arteriosus, Flexion contracture, Abnormal heart morphology, Hydrocel... ORPHA:314588
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Holoprosencep... ORPHA:77298
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Edema, Polyhydramnios, Hydrocephalus, Patent ductus arteriosus, Anence... OMIM:269860
Hennekam Syndrome
Camptodactyly of finger, Lymphedema, Pericardial effusion, Hydrops fetalis, Chylothorax, Ascites ORPHA:2136
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Cryptorchidism, Patent ductus arteriosus, Genera... OMIM:139210
Thanatophoric Dysplasia Type 1
Polyhydramnios, Increased nuchal translucency, Hydrocephalus, Patent ductus arteriosus, Atrial se... ORPHA:1860
Adams-Oliver Syndrome 2
Limb hypertonia, Hydrocephalus, Lateral ventricle dilatation, Oligohydramnios OMIM:614219
Bor Syndrome
Branchial cyst ORPHA:107
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Situs inversus totalis, Absent outer dynein arms, Immotile cilia, Ci... OMIM:244400
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Atrial septal defect, Ventriculomegaly,... OMIM:615219
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Mucopolysaccharidosis, Type Ii
Abnormal heart valve morphology, Hydrocephalus, Flexion contracture, Macroglossia, Umbilical hernia OMIM:309900
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Bresek Syndrome
Cryptorchidism, Hydrocephalus, Neonatal death, Intrauterine growth retardation, Decreased testicu... ORPHA:85284
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal spinal cord morphology ORPHA:139578
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Polyhydramnios, Hydrocephalus, Colpocephaly, Distal arthrogryposis, Intrauterine growth retardati... OMIM:619833
Aicardi-Goutieres Syndrome 7
Edema, Pericardial effusion, Limb hypertonia, Intrauterine growth retardation, Hypertrophic cardi... OMIM:615846
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
1Q44 Microdeletion Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Ventriculomegaly ORPHA:238769
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Diastasis recti, Spina bifida, Congenital diaphragmatic... ORPHA:2369
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Muscular dystrophy OMIM:615181
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Hemangioblastoma
Upper limb muscle weakness, Hydrocephalus, Lower limb muscle weakness ORPHA:252054
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Camptodactyly, Atrial septal defect, Aortic valve stenosis, Dandy-Walker malformation ORPHA:459061
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Metatropic Dysplasia
Hydrocephalus, Camptodactyly of finger ORPHA:2635
Chédiak-Higashi Syndrome
Pericardial effusion, Pleural effusion, Edema ORPHA:167
Mucopolysaccharidosis, Type Vii
Abnormal heart valve morphology, Diastasis recti, Hydrocephalus, Flexion contracture, Hydrops fet... OMIM:253220
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Polyhydramnios, Cryptorchidism, Hydrocephalus, Abnormal cardiac septum morphology,... ORPHA:2166
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, Bilateral cryptorchidism, Hydrocephalus, Intrauterine growth ret... ORPHA:2409
Neonatal Lupus Erythematosus
Hydrocephalus, Dilated cardiomyopathy, Abnormal heart morphology ORPHA:398124
Fg Syndrome Type 1
Progressive flexion contractures, Cryptorchidism, Hydrocephalus, Mitral valve prolapse, Atrial se... ORPHA:93932
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Hydrocephalus, Patent ductus arteriosus, Double outlet right ventricle OMIM:614886
Temple Syndrome
Cryptorchidism, Hydrocephalus ORPHA:254516
8Q24.3 Microdeletion Syndrome
Branchial cyst, Micromelia, Short neck, Finger clinodactyly, Clinodactyly of the 5th finger, Atri... ORPHA:508488
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Hydrocephalus, Abnormal cardiac ventricle morpho... ORPHA:2306
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Polyhydramnios, Centrally nucleated skeletal muscle fibers, Ac... OMIM:620351
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Intrauterine growth retardati... OMIM:300514
L1 Syndrome
Aqueductal stenosis, Skeletal muscle atrophy, Hydrocephalus ORPHA:275543
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Keratoderma Hereditarium Mutilans
Abnormal spinal cord morphology ORPHA:494
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Prominent fingertip pads, Branchial anomaly, Brachydactyly, Short palm ORPHA:466950
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, ... OMIM:613150
Hogue-Janssen Syndrome 2
Hydrocephalus, Facial hypotonia, Ventriculomegaly OMIM:616362
Acquired Aneurysmal Subarachnoid Hemorrhage
Left ventricular hypertrophy, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate ORPHA:90065
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hydromyelia OMIM:600145
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation, Edema ORPHA:79332
Chromosome 17P13.1 Deletion Syndrome
Spina bifida, Hydrocephalus, Elbow flexion contracture, Knee flexion contracture, Hydrocele testi... OMIM:613776
Knobloch Syndrome
Patent ductus arteriosus, Occipital encephalocele, Hydrocephalus, Dextrocardia ORPHA:1571
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Dilated cardiomyopathy, Pulmonary edema ORPHA:73224
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Toe syndactyly, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial anomal... OMIM:619657
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus, Joint contracture of the hand, Camptodactyly OMIM:224400
Holoprosencephaly 14
Ventriculomegaly, Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydro... OMIM:619895
Hurler Syndrome
Hydrocephalus, Flexion contracture, Cardiomyopathy, Macroglossia, Endocardial fibroelastosis, Umb... OMIM:607014
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Camptodactyly of finger, Spina bifida ORPHA:2839
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Dural Sinus Malformation
Myelopathy, Hydrocephalus, Cerebral edema ORPHA:97339
Otopalatodigital Syndrome Type 2
Encephalocele, Abnormal heart valve morphology, Camptodactyly of finger, Myelomeningocele, Hydroc... ORPHA:90652
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus, Flexion contracture OMIM:613330
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Subvalvular aortic stenosis, Atrial sep... OMIM:613001
Diets-Jongmans Syndrome
Ventricular septal defect, Polyhydramnios, Cryptorchidism, Heterotaxy, Umbilical hernia OMIM:618846
Gaucher Disease, Type Iiic
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Hydrocephalus, Mitral stenosis OMIM:231005
Coach Syndrome 2
Hydrocephalus OMIM:619111
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Absent extraocular muscles, Ventriculomegaly OMIM:109120
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus OMIM:601794
Dextrocardia
Situs inversus totalis, Hydrocephalus, Dextrocardia, Abnormal heart morphology ORPHA:1666
Peho Syndrome
Palpebral edema, Hydrocephalus, Flexion contracture, Pedal edema, Peripheral edema, Arthrogryposi... ORPHA:2836
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Scapular winging, Hydrocephalus, Mitral valve prolapse, Intrauteri... OMIM:616914
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Broad hallux, Polyhydramnios, Hydrocele testis, Atrial septal defect... OMIM:620186
Vacterl With Hydrocephalus
Spina bifida, Polyhydramnios, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Intrauterine gr... ORPHA:3412
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Secundum atrial septal defect, Cryptorchidism, Hydrocephalus, Camptodactyly of finger OMIM:619951
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Embryonal rhabdomyosarcoma, Pulmonic stenosis, A... OMIM:257300
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus ORPHA:2318
Methylcobalamin Deficiency Type Cble
Intrauterine growth retardation, Hydrocephalus, Lower limb hypertonia, Ventriculomegaly ORPHA:2169
Whipple Disease
Myositis, Pericarditis, Myocarditis, Hydrocephalus, Pedal edema ORPHA:3452
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Patent ductus arteriosus, Cryptorchidism ORPHA:861
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Fetal Akinesia Deformation Sequence 1
Hip contracture, Decreased muscle mass, Nonimmune hydrops fetalis, Polyhydramnios, Elbow contract... OMIM:208150
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus ORPHA:220497
Spinal Arteriovenous Metameric Syndrome
Abnormal spinal cord morphology, Spinal arteriovenous malformation ORPHA:53721
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Capillary Malformation-Arteriovenous Malformation
Nonimmune hydrops fetalis, Lymphedema, Abnormality of the musculature of the limbs, Hydrocephalus... ORPHA:137667
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Icf Syndrome
Communicating hydrocephalus, Umbilical hernia, Macroglossia ORPHA:2268
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hydrocephalus, Flexion contracture, Lateral ventricle dilatation, Muscular dyst... OMIM:613154
Crouzon Syndrome
Hydrocephalus ORPHA:207
Mucopolysaccharidosis, Type Vi
Hydrocephalus, Flexion contracture, Cervical myelopathy, Cardiomyopathy, Macroglossia, Umbilical ... OMIM:253200
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Dandy-Walker ma... ORPHA:1647
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Hydrocephalus OMIM:300863
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus, Abnormal heart morphology OMIM:239300
Opitz-Kaveggia Syndrome
Multiple joint contractures, Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Camptodact... OMIM:305450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Ventriculomegaly, Hydrocephalus, Muscular dystrophy, Dandy-Walker malformation OMIM:614643
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Albers-Schönberg Osteopetrosis
Hydrocephalus, Facial palsy ORPHA:53
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Thanatophoric Dysplasia, Type I
Neonatal death, Hydrocephalus, Polyhydramnios OMIM:187600
Monosomy 9Q22.3
Rhabdomyosarcoma, Hydrocephalus, Cardiac fibroma, Umbilical hernia, Ventriculomegaly ORPHA:77301
Nephronophthisis 18
Hydrocephalus OMIM:615862
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... OMIM:615287
Gorlin Syndrome
Cryptorchidism, Hydrocephalus ORPHA:377
Monosomy 18Q
Absence of the pulmonary valve, Secundum atrial septal defect, Bilateral cryptorchidism, Hydrocep... ORPHA:1600
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Camptodactyly of finger, Cryptorchidism, Aplasia/Hypoplasia of the a... ORPHA:2462
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Ventriculomegaly, Colpocephaly, Congenital contracture OMIM:620156
Basal Cell Nevus Syndrome 1
Cardiac rhabdomyoma, Hydrocephalus, Cardiac fibroma, Spina bifida OMIM:109400
Tsh-Secreting Pituitary Adenoma
Pericardial effusion ORPHA:91347
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus, Mitral valve prolapse, Camptodactyly, Umbilical hernia, Joint cont... OMIM:182212
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Facial palsy, Hydrocephalus, Holoprosencephaly, ... ORPHA:2356
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Abnormal cardiac septum morphology, Intr... ORPHA:250989
Desmosterolosis
Patent ductus arteriosus, Hydrocephalus, Anomalous pulmonary venous return, Intrauterine growth r... ORPHA:35107
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Congenital diaphragmatic hernia, Transpos... ORPHA:1780
Walker-Warburg Syndrome
Skeletal muscle atrophy, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Muscular dystrophy, Apl... ORPHA:899
Osteopathia Striata With Cranial Sclerosis
Ventricular septal defect, Facial palsy, Polyhydramnios, Hydrocephalus, Patent ductus arteriosus,... OMIM:300373
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Flexion contracture, Muscular dystrophy OMIM:615249
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect, Hydrocephalus, Flexion contracture, Camptodactyly OMIM:207410
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Gitelman Syndrome
Pericardial effusion, Rhabdomyolysis ORPHA:358
Cutis Laxa, Autosomal Recessive, Type Iib
Intrauterine growth retardation, Hydrocephalus, Decreased muscle mass OMIM:612940
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomegaly, Hydrocephalus, Cardiomyopathy, Abnormal myocardium morphology, Ventriculomegaly ORPHA:228308
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Hydrocephalus, Elbow flexio... OMIM:245600
Mucopolysaccharidosis Type 1
Abnormal heart valve morphology, Hydrocephalus, Abnormal tendon morphology, Abnormal aortic valve... ORPHA:579
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Intrauterine growth retardation, Hydrocephalus ORPHA:163966
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Polyhydramnios, Patent ductus arteriosus, Umbilical hernia, Ventricu... OMIM:618188
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Desmosterolosis
Patent ductus arteriosus, Hydrocephalus, Total anomalous pulmonary venous return, Arthrogryposis ... OMIM:602398
Solitary Bone Cyst
Abnormal spinal cord morphology ORPHA:83468
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Congenital diaphragmatic hernia, Oligohydramnios ORPHA:1834
Spondyloepimetaphyseal Dysplasia, Krakow Type
Elbow contracture, Hydrocephalus, Patent ductus arteriosus, Knee flexion contracture, Atrial sept... OMIM:618162
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Flexion contracture, Dandy-Walker malformation, Ventriculomegaly OMIM:304340
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Umbilical hernia, Hydrocephalus, Cryptorchidism ORPHA:1555
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Camptodactyly of finger, Lar... OMIM:249000
Meckel Syndrome
Encephalocele, Situs inversus totalis, Cryptorchidism, Hydrocephalus, Anencephaly, Lobar holopros... ORPHA:564
Intellectual Developmental Disorder, Autosomal Dominant 65
Facial hypotonia, Noncommunicating hydrocephalus OMIM:619320
Crimean-Congo Hemorrhagic Fever
Pericardial effusion, Myocarditis, Ascites, Orchitis ORPHA:99827
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Edema, Cardiomegaly, Pericardial effusion, Polyhydramnios, Hydrops fetal... ORPHA:51608
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Hydrocephalus, Rhabdomyolysis, Myopathy ORPHA:157
Hurler Syndrome
Abnormal heart valve morphology, Camptodactyly of finger, Hydrocephalus, Macroglossia, Cardiomyop... ORPHA:93473
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Lymphedema, Cryptorchidism, Hydrocephalus, Pulmonic stenosis, At... ORPHA:1340
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Dextrocardia, Left Isomerism, Situs inversus totalis, Patent foramen o... OMIM:619702
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pleural effusion OMIM:181000
Mucopolysaccharidosis Type 3
Cardiomegaly, Hydrocephalus, Flexion contracture, Macroglossia, Umbilical hernia, Abnormal aortic... ORPHA:581
Multiple Sulfatase Deficiency
Periorbital edema, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly OMIM:272200
Marden-Walker Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs ... ORPHA:2461
Pontocerebellar Hypoplasia, Type 7
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Skeletal muscle atrophy OMIM:614969
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Hydrocephalus, Cryptorchidism, C... OMIM:236670
Fanconi Anemia
Spina bifida, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Oligohydramnios, Azoosperm... ORPHA:84
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus OMIM:608091
Cole-Carpenter Syndrome 2
Hydrocephalus, Oligohydramnios OMIM:616294
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Hydrocephalus, Ascites, Oligozoospermia ORPHA:91348
Mirage Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Intrauterine growth retardation, Decreas... OMIM:617053
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:60040
Jacobsen Syndrome
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Flexion contracture, Holoprosencephaly,... OMIM:147791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Hydrocephalus, Muscular dystrophy, Ventriculomegaly OMIM:616538
Cousin Syndrome
Hydrocephalus, Camptodactyly, Hydranencephaly, Joint contracture of the hand, Wrist flexion contr... OMIM:260660
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Polyhydramnios ORPHA:1812
Arachnoiditis
Hydrocephalus ORPHA:137817
Muenke Syndrome
Hydrocephalus ORPHA:53271
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus, Patent ductus arteriosus, Flexion contracture, Abnormal heart morphology, Macroglo... ORPHA:505248
Fraser Syndrome 3
Nonimmune hydrops fetalis, Hydrocephalus, Stillbirth, Ascites, Oligohydramnios OMIM:617667
Oxoglutaric Aciduria
Skeletal muscle atrophy, Hydrocephalus ORPHA:31
Gracile Bone Dysplasia
Hydrocephalus, Ascites OMIM:602361
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Hydrocephalus, Flexion contracture, Dilated third ventricle, Ventriculomegaly ORPHA:500055
47,Xyy Syndrome
Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoospermia, Macroorchidism ORPHA:8
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Hydrocephalus, Colp... OMIM:309801
Tenorio Syndrome
Macroglossia, Hydrocephalus, Ventriculomegaly OMIM:616260
Cardiofaciocutaneous Syndrome 1
Polyhydramnios, Hydrocephalus, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:115150
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Ventricular septal defect, Hydrops fetalis, Congenital diaphragmatic hernia ORPHA:268249
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus, Facial paralysis OMIM:259710
Osteopetrosis, Autosomal Recessive 5
Facial palsy, Hydrocephalus, Stillbirth, Ascites, Ventriculomegaly, Limb hypertonia OMIM:259720
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Polyhydramnios, Cry... ORPHA:567
Orofaciodigital Syndrome I
Myelomeningocele, Hydrocephalus, Abnormal heart morphology OMIM:311200
Neurooculorenal Syndrome
Dextrocardia, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Mitral valve prolapse, Tetralog... OMIM:620305
Marshall-Smith Syndrome
Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Patent ductus... OMIM:602535
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus, Facial paralysis, Facial palsy OMIM:259700
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus, Dilated cardiomyopathy, Hydrops fetalis, Dehydration, Abnormal heart morphology, I... ORPHA:79282
Large Congenital Melanocytic Nevus
Hydrocephalus, Rhabdomyosarcoma ORPHA:626
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus ORPHA:1454
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Testicular n... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Testicular n... ORPHA:363958
Hajdu-Cheney Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Umbilical hernia OMIM:102500
Hydrolethalus Syndrome 1
Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defect, Anencephaly, S... OMIM:236680
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:618476
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Coccidioidomycosis
Pericarditis, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Pleural empyema, Abno... ORPHA:228123
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Full Nf2-Related Schwannomatosis
Facial palsy, Myelopathy, Hydrocephalus, Wrist drop, Foot dorsiflexor weakness ORPHA:637
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Hydrocephalus, Polyhydramnios ORPHA:3301
Mend Syndrome
Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Aortic valve stenosis, Dandy-Walker mal... ORPHA:401973
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Ventricular septal defect, Lateral ventricle dilatation OMIM:619575
Tetrasomy 5P
Hydrocephalus, Aplasia/Hypoplasia of the abdominal wall musculature ORPHA:3309
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Patent... ORPHA:96121
Cerebrooculonasal Syndrome
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:605627
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Abnormal heart valve morphology, Abnormal pulmonary valve morphology... ORPHA:580
Rhombencephalosynapsis
Hydrocephalus, Ventriculomegaly ORPHA:59315
Trisomy 8P
Multiple joint contractures, Abnormal atrioventricular connection, Cryptorchidism, Hydrocephalus,... ORPHA:264450
Fontaine Progeroid Syndrome
Atrial septal defect, Bicuspid aortic valve, Cryptorchidism, Hydrocephalus, Patent ductus arterio... OMIM:612289
Neurofibromatosis, Type I
Aqueductal stenosis, Rhabdomyosarcoma, Hydrocephalus, Spina bifida OMIM:162200
Semilobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Flexion contracture, Abnormal heart morphology ORPHA:220386
Alobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Flexion contracture, Abnormal heart morphology ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Hydrocephalus, Flexion contracture, Abnormal heart morphology ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Flexion contracture, Abnormal heart morphology ORPHA:93924
Witteveen-Kolk Syndrome
Branchial fistula, Toe syndactyly, Unilateral cryptorchidism, Overlapping toe, Proximal placement... OMIM:613406
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocele testis, Hydrocephalus, Ventriculomegaly, Polyhydramnios OMIM:613603
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Neonatal death, Hydrocephalus OMIM:616482
Hajdu-Cheney Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Aortic valve stenosis, Umbili... ORPHA:955
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Apert Syndrome
Overriding aorta, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:101200
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Cardiomyopathy OMIM:616084
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Endocrine-Cerebroosteodysplasia
Polyhydramnios, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Ventriculomegaly OMIM:612651
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Campomelic Dysplasia
Polyhydramnios, Spina bifida, Contracture of the distal interphalangeal joint of the fingers, Hyd... OMIM:114290
Tetrasomy 9P
Pericarditis, Myositis, Dextrocardia, Cryptorchidism, Hydrocephalus, Oligozoospermia, Abnormal ca... ORPHA:3310
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Cryptorchidism ORPHA:1237
Gaucher Disease
Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morphology, Aor... ORPHA:355
Achondroplasia
Hydrocephalus ORPHA:15
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Atrial septal defect, Arthrogryposis multiple... OMIM:619512
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Cryptorchidism, Hydrocephalus, Abnormal heart morphology OMIM:227646
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Atrial septal... ORPHA:163979
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Lower limb muscle weakness, Ventriculomegaly ORPHA:395
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus ORPHA:2969
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Oligohydramnios ORPHA:3016
Branchiooculofacial Syndrome
Proximal placement of thumb, Short neck, Cryptorchidism, Short thumb, Preaxial hand polydactyly, ... OMIM:113620
15Q Overgrowth Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Hydrocephalus, Contracture o... ORPHA:314585
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Histiocytoid Cardiomyopathy
Hydrocephalus, Pulmonary edema, Ventricular septal defect, Cardiomegaly ORPHA:137675
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Partial duplication... OMIM:164210
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Torticollis, Multiple joint contractures, Hydrocephalus, Mitral valve prolapse, Oligohydramnios ORPHA:536467
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Kabuki Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Abnormal cardiac septum morpholog... ORPHA:2322
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Fraser Syndrome 1
Encephalocele, Cryptorchidism, Myelomeningocele, Hydrocephalus, Abnormal heart morphology OMIM:219000
H Syndrome
Hydrocephalus, Upper eyelid edema, Azoospermia, Camptodactyly, Decreased testicular size ORPHA:168569
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Cryptorchidism, Hydroce... OMIM:210710
Crouzon Syndrome
Hydrocephalus OMIM:123500
Dubowitz Syndrome
Intrauterine growth retardation, Hydrocephalus, Spina bifida occulta, Cryptorchidism ORPHA:235
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Congenital fibrosis of extraocular muscles, Torticollis, Normal pressure hydrocephalus, Lateral v... ORPHA:300570
Peters Plus Syndrome
Polyhydramnios, Cryptorchidism, Hydrocephalus, Bicuspid pulmonary valve, Patent ductus arteriosus... ORPHA:709
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... ORPHA:99125
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Rabin-Pappas Syndrome
Hydrocephalus OMIM:620155
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Congenital diaphragmatic hernia, Aqueductal stenosis, Hydrocephalus, P... OMIM:154400
Stromme Syndrome
Myopathy, Hydrocephalus, Stillbirth OMIM:243605
Exstrophy-Epispadias Complex
Cryptorchidism, Hydrocephalus, Spina bifida, Abnormal heart morphology ORPHA:322
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Hydrom... ORPHA:573278
Achondroplasia
Hydrocephalus, Polyhydramnios OMIM:100800
Osteootohepatoenteric Syndrome
Hydrocephalus, Dehydration OMIM:619377
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus, Flexion contracture OMIM:616007
Acrodysostosis 1 With Or Without Hormone Resistance
Intrauterine growth retardation, Hydrocephalus, Cryptorchidism OMIM:101800
Costello Syndrome
Ventricular septal defect, Polyhydramnios, Rhabdomyosarcoma, Hydrocephalus, Achilles tendon contr... OMIM:218040
Apert Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:87
Cole-Carpenter Syndrome
Communicating hydrocephalus, Intrauterine growth retardation ORPHA:2050
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal spinal cord morphology ORPHA:88628
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Osteogenesis Imperfecta
Abnormal endocardium morphology, Hydrocephalus, Flexion contracture, Noncommunicating hydrocephal... ORPHA:666
Lhermitte-Duclos Disease
Macroglossia, Hydrocephalus ORPHA:65285
Mend Syndrome
Cryptorchidism, Hydrocephalus, Aortic valve stenosis, Dandy-Walker malformation OMIM:300960
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Hydrocephalus, Bicuspid pulmonary valve, Patent ductus arteriosus, Mitral ... OMIM:610168
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Hydrocephalus, Bicuspid pulmonary valve, Patent ductus arteriosus, Mitral ... OMIM:609192
Cryptococcosis
Pleural effusion, Hydrocephalus, Limb muscle weakness, Cerebral edema ORPHA:1546
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Ventriculomegaly OMIM:123790
Alexander Disease
Aqueductal stenosis, Hydrocephalus, Facial palsy ORPHA:58
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia, Hydrocephalus, Dilated cardiomyopathy, Mitral valve prolapse, Ab... ORPHA:2556
Raine Syndrome
Neonatal death, Arthrogryposis multiplex congenita, Hydrocephalus OMIM:259775
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2378
Biliary, Renal, Neurologic, And Skeletal Syndrome
Generalized edema, Cor triatriatum, Ventricular septal defect, Dextrocardia, Edema, Polyhydramnio... OMIM:619534
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules ORPHA:25
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Colpocephaly,... OMIM:270400
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Overlapping fingers, Overlapping toe, Short neck, Abnormal heart morph... ORPHA:798
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Facial hypotonia, Macroglossia, Myopathy, Umbilical hernia ORPHA:309282
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve prolapse, Pulmo... ORPHA:363700
Otopalatodigital Syndrome, Type Ii
Elbow contracture, Spina bifida, Cryptorchidism, Hydrocephalus, Stillbirth, Atrial septal defect,... OMIM:304120
Adrenomyeloneuropathy
Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology ORPHA:139399
X-Linked Cerebral Adrenoleukodystrophy
Myelopathy, Abnormal spinal cord morphology ORPHA:139396
Simpson-Golabi-Behmel Syndrome, Type 1
Ventricular septal defect, Facial hypotonia, Polyhydramnios, Congenital diaphragmatic hernia, Dia... OMIM:312870
Pseudoaminopterin Syndrome
Posterolateral diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Patent foramen ovale ORPHA:221120
Yunis-Varon Syndrome
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Cryptorchidism, Hydrocephalus, Increased... ORPHA:3472
Acute Disseminated Encephalomyelitis
Abnormal spinal cord morphology, Myelitis ORPHA:83597
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Mitral valve calcification, Aortic valve calcification, Hydrocephalus, Azoospermia, Bacterial end... ORPHA:2072
Mohr Syndrome
Hydrocephalus OMIM:252100
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Torticollis, Bicuspid aortic valve, Palpebral edema, Ventricular septal defect, Hydrocephalus, In... OMIM:619475
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Cryptorchidism, Hydrocephalus, Flexion contracture, Elbow flexion contracture, Oligozoospermia, S... ORPHA:95699
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus, Abnormal pulmonary valve morphology ORPHA:667
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Polyhydramnios, Ankle flexion contracture, Cryptorchidism, Hydrocephal... OMIM:268300
Pmm2-Cdg
Pericarditis, Multiple joint contractures, Lymphedema, Pericardial effusion, Anasarca, Hypertroph... ORPHA:79318
Medulloblastoma
Hydrocephalus ORPHA:616
Baller-Gerold Syndrome
Hydrocephalus, Spina bifida occulta, Severe intrauterine growth retardation, Abnormal heart morph... OMIM:218600
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... OMIM:607872
Peters-Plus Syndrome
Ventricular septal defect, Diastasis recti, Polyhydramnios, Cryptorchidism, Hydrocephalus, Patent... OMIM:261540
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Townes-Brocks Syndrome 1
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Atrial septal defect... OMIM:107480
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Oeis Complex
Cryptorchidism, Myelomeningocele, Hydrocephalus OMIM:258040
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Aplasia of the right hemidiaphragm, Polyhydramnios, Cryptorchidism, ... OMIM:619841
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Facial hypotonia, Ventriculomegaly ORPHA:457284
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Atrial septal de... OMIM:194190
Fanconi Anemia, Complementation Group L
Intrauterine growth retardation, Hydrocephalus OMIM:614083
Focal Dermal Hypoplasia
Diastasis recti, Congenital diaphragmatic hernia, Cryptorchidism, Myelomeningocele, Hydrocephalus... OMIM:305600
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Wiedemann-Rautenstrauch Syndrome
Secundum atrial septal defect, Cryptorchidism, Hydrocephalus, Flexion contracture, Generalized am... OMIM:264090
Craniopharyngioma
Hydrocephalus ORPHA:54595
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Hydrocephalus, Facial palsy ORPHA:2658
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia ORPHA:168577
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intrauterine growth retardation, Hydrocephalus, Flexion contracture, Decreased testicular size OMIM:619321
Meningioma
Upper limb muscle weakness, Hydrocephalus, Lower limb muscle weakness, Facial palsy ORPHA:2495
Kabuki Syndrome 1
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation, Atrial se... OMIM:147920
Cockayne Syndrome A
Hip contracture, Cryptorchidism, Normal pressure hydrocephalus, Intrauterine growth retardation, ... OMIM:216400
Wiedemann-Rautenstrauch Syndrome
Camptodactyly of finger, Cryptorchidism, Hydrocephalus, Congenital malformation of the left heart... ORPHA:3455
Superficial Siderosis
Atrophy of the spinal cord, Abnormal spinal cord morphology ORPHA:247245
Microphthalmia With Limb Anomalies
Cryptorchidism, Hydrocephalus, Camptodactyly of 2nd-5th fingers ORPHA:1106
Tuberous Sclerosis Complex
Noncommunicating hydrocephalus, Cardiac rhabdomyoma, Subependymal nodules ORPHA:805
Holoprosencephaly 9
Cryptorchidism, Hydrocephalus, Holoprosencephaly OMIM:610829
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus ORPHA:91350
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Bilateral cryptorchidism, Hydrocephalus, Flexion contracture, Myopathy ORPHA:3042
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Ventriculomegaly OMIM:617011
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Facial hypotonia, Ventriculomegaly ORPHA:457359
Coffin-Siris Syndrome 12
Facial palsy, Cryptorchidism, Noncommunicating hydrocephalus, Tetralogy of Fallot, Patent foramen... OMIM:619325
Cockayne Syndrome B
Intrauterine growth retardation, Normal pressure hydrocephalus, Cryptorchidism OMIM:133540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Muscular dystrophy, Ventriculomegaly OMIM:253280
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation ORPHA:722
Tetraamelia Syndrome 1
Hydrocephalus, Congenital diaphragmatic hernia OMIM:273395
Amoebiasis Due To Free-Living Amoebae
Abnormal spinal cord morphology ORPHA:68
Neurofibromatosis Type 1
Cryptorchidism, Hydrocephalus ORPHA:636
Mosaic Trisomy 20
Abnormal spinal cord morphology ORPHA:1724
Primary Sjögren Syndrome
Abnormal spinal cord morphology ORPHA:289390
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus, Facial paralysis 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 Kif3a

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 Kif3a.

No publications found that use IMPC mice or data for Kif3a.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Kif3atm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Kif3atm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Kif3atm272(pL1L2_GT0_DelLacZ_bsd) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Kif3aem1(IMPC)Ccpcz Inter-exon deletion Mice
Kif3atm272(L1L2_gt0_Del_LacZ) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Kif3atm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Kif3atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Kif3atm272(pL1L2_frt15_BetactinBSD_frt14_neo_Rox) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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