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Gene: Clxn MGI:1914043

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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:
calaxin
Synonyms:
5430404L10Rik,  Efcab1,  4930449A16Rik

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 Clxn 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 Clxn by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ciliary Dyskinesia, Primary, 14
Male infertility, Neonatal respiratory distress, Absent inner dynein arms, Situs inversus totalis... OMIM:613807
Ciliary Dyskinesia, Primary, 18
Male infertility, Neonatal respiratory distress, Absent inner dynein arms, Situs inversus totalis... OMIM:614874
Ciliary Dyskinesia, Primary, 26
Neonatal respiratory distress, Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, ... OMIM:615500
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Reduced forced expiratory volume in one second, Situs inversus totalis, Absent ou... OMIM:618300
Ciliary Dyskinesia, Primary, 12
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Bronchiecta... OMIM:612650
Ciliary Dyskinesia, Primary, 13
Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, Immot... OMIM:613193
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Bronchiecta... OMIM:616481
Ciliary Dyskinesia, Primary, 34
Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, A... OMIM:617091
Ciliary Dyskinesia, Primary, 9
Male infertility, Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Absent outer ... OMIM:612444
Ciliary Dyskinesia, Primary, 22
Neonatal respiratory distress, Dextrocardia, Situs inversus totalis, Bronchiectasis, Decreased na... OMIM:615444
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Bronchiecta... OMIM:615481
Ciliary Dyskinesia, Primary, 11
Neonatal respiratory distress, Bronchiectasis, Decreased nasal nitric oxide, Abnormal central mic... OMIM:612649
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Bronchiect... OMIM:618063
Ciliary Dyskinesia, Primary, 15
Neonatal respiratory distress, Situs inversus totalis, Wheezing, Abnormal axonemal organization o... OMIM:613808
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric... OMIM:611884
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chro... OMIM:614017
Ciliary Dyskinesia, Primary, 28
Neonatal respiratory distress, Dynein arm defect of respiratory motile cilia, Situs inversus tota... OMIM:615505
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Ciliary Dyskinesia, Primary, 19
Male infertility, Situs inversus totalis, Bronchiectasis, Absent inner and outer dynein arms, Imm... OMIM:614935
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Absent inn... OMIM:606763
Ciliary Dyskinesia, Primary, 45
Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Chronic rhi... OMIM:618801
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro... OMIM:615451
Ciliary Dyskinesia, Primary, 25
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Chronic pu... OMIM:615482
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Situs inversus totalis, Bronchiectasis, Decreased nasal nitric oxide, Coiled sp... OMIM:620197
Ciliary Dyskinesia, Primary, 30
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Absent outer dynein arms, Asthma... OMIM:616037
Ciliary Dyskinesia, Primary, 17
Dextrocardia, Dynein arm defect of respiratory motile cilia, Situs inversus totalis, Bronchiectas... OMIM:614679
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhinitis, Immotile spe... OMIM:242670
Ciliary Dyskinesia, Primary, 3
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... OMIM:608644
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Respi... OMIM:608647
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Recurrent sinusitis, Abnormal respiratory motile cilium morphology, Cilia... OMIM:612518
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis, Infertility OMIM:615872
Ciliary Dyskinesia, Primary, 27
Neonatal respiratory distress, Situs inversus totalis, Bronchiectasis, Decreased nasal nitric oxi... OMIM:615504
Ciliary Dyskinesia, Primary, 6
Sinusitis, Absent/shortened outer dynein arms, Abnormal ciliary motility, Recurrent sinusitis, Ci... OMIM:610852
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Male infertility, Pneumonia, Situs inversus totalis, Absent outer dy... OMIM:244400
Spermatogenic Failure, X-Linked, 5
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis,... OMIM:615294
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:615938
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:215520
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure, X-Linked, 6
Male infertility, Recurrent pneumonia, Coiled sperm flagella, Reduced sperm motility, Absent sper... OMIM:301101
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h... OMIM:604213
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:615937
Spermatogenic Failure 29
Non-obstructive azoospermia, Male infertility, Immotile sperm OMIM:618091
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... OMIM:301059
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 42
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Ciliary dyskinesia OMIM:616726
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:225050
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:620196
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration, Ventriculomegaly OMIM:618709
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Productive cough, Situs inversus ... OMIM:615067
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 11
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Retinitis Pigmentosa 6
Immotile cilia OMIM:312612
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... OMIM:600348
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Neonatal respiratory distress, Hydrocephalus OMIM:266100
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly ORPHA:352682
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum, Simplified gyral pattern, Lissencephaly OMIM:614019
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Tetralogy of Fallot ORPHA:250994
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Abnormal heart morphology, Colpocephaly, Lissencephaly... ORPHA:2185
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Ciliary dyskinesia ORPHA:1882
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida, Abnormality of neuronal migration ORPHA:945
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Type II lissencephaly, Ventriculomegaly ORPHA:324416
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus, Cardiomegaly OMIM:300886
Primary Ciliary Dyskinesia
Male infertility, Neonatal respiratory distress, Abnormal atrial arrangement, Atrial situs ambigu... ORPHA:244
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Hepatomegaly, Colpocephaly, Pachygyria OMIM:614870
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Ciliary Dyskinesia, Primary, 41
Impaired nasal mucociliary clearance, Bronchiectasis, Infertility, Recurrent sinusitis, Immotile ... OMIM:618449
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Simplified gyral pattern, Respiratory ins... OMIM:613153
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele ORPHA:261102
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Ty... OMIM:615191
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Cryptorchidism, Lateral ventricle dilatation, V... OMIM:616816
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum, Lissencephaly ORPHA:1528
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism, Mitral valve prolapse ORPHA:2183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Type II lissencephaly, Ventriculomegaly OMIM:614830
Pontocerebellar Hypoplasia, Type 15
Simplified gyral pattern, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, H... OMIM:619302
Ethanolaminosis
Cardiomegaly OMIM:227150
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Hydrocephalus OMIM:300884
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hydrocephalus, Respiratory insufficiency, Hepatosplenomegaly, CSF lym... OMIM:610333
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Simplified gyral pattern OMIM:619470
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Lateral ventricle dilatation, Polymicrogyria OMIM:300982
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect, Polymicrogyria ORPHA:83473
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Kleeblattschaedel
Hydrocephalus OMIM:148800
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Biemond Syndrome Type 2
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:141333
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Respiratory insufficiency, Holop... ORPHA:93274
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Umbilical hernia, Agenesis of corpus ca... OMIM:175700
Congenital Toxoplasmosis
Hepatomegaly, Hydrocephalus, Ventriculomegaly, Cardiomegaly ORPHA:858
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Abnormal heart morphology, Respira... OMIM:276950
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterotopia, Agen... OMIM:207950
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Fried Syndrome
Hydrocephalus ORPHA:85335
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Central Precocious Puberty In Male
Hydrocephalus, Abnormality of the testis size ORPHA:649929
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:618577
Spondylometaphyseal Dysplasia, Axial
Splenomegaly, Reduced sperm motility, Recurrent pneumonia, Restrictive ventilatory defect OMIM:602271
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Polymicrogyria, Ventricular septal defect, Ventriculomegaly OMIM:602501
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Umbilical hernia, Hydrocephalus ORPHA:1516
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum ORPHA:250972
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... ORPHA:1908
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Dilated cardiomyopathy, Type II lissencephaly, Ventriculomegaly ORPHA:272
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism OMIM:601794
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Pachygyria OMIM:618174
Infantile Sialic Acid Storage Disease
Splenomegaly, Hepatomegaly, Hydrocephalus, Cardiomegaly OMIM:269920
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculo... OMIM:218350
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Bronchiectasis, Noncommunicating hydrocephalus, ... OMIM:618699
Joubert Syndrome
Encephalocele, Apnea, Episodic tachypnea, Situs inversus totalis, Hydrocephalus, Abnormality of n... ORPHA:475
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Cryptorchidism, Dysplastic corpus callosum, Perimembranous ventricular septal defec... OMIM:620135
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus OMIM:615599
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... OMIM:616034
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Cardiomy... ORPHA:370959
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis ORPHA:2701
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly OMIM:304100
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Productive cough, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Reduced s... OMIM:615434
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus, Respiratory insufficiency ORPHA:1914
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele, Respiratory insufficiency, Cardiomyopathy, Endoca... ORPHA:2119
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Agyria, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Respiratory in... OMIM:253800
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Episodic tachypnea, Hydrocephalus, Apneic episodes in infancy, Dandy-Walker mal... ORPHA:163961
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventricular canal defect, Common ... ORPHA:1330
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Polymicro... OMIM:225790
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Infertility, Abnormal sperm morphology, Decreased testicular size... ORPHA:320391
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... OMIM:611134
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Co... OMIM:615219
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Lissencephaly,... ORPHA:300573
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Spondylocostal Dysostosis 4, Autosomal Recessive
Dextrocardia, Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced for... OMIM:613686
Diabetic Embryopathy
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Spinal dysraphism, Transposition of the... ORPHA:1926
Thanatophoric Dysplasia
Hydrocephalus, Respiratory insufficiency, Gray matter heterotopia, Atrial septal defect, Ventricu... ORPHA:2655
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Umbilical hernia, Hydrocephalus ORPHA:2181
Renpenning Syndrome
Heterotaxy, Decreased testicular size ORPHA:3242
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory insufficiency due to muscle weakness, Perisylvian polymicrogyria, Resp... OMIM:618291
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Bicuspid aortic valve ORPHA:397951
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Hydrocephalus, Umbilical hernia ORPHA:171839
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Ventricular septal defect, Partial agenesis of the corpus callosum... ORPHA:79243
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation, Simplified gyral pattern, Respiratory insufficiency OMIM:617668
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Ventricular septal defect, Bicuspid aortic valve, Recurrent pneumonia, ... OMIM:617751
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Lissencephaly, Umbilical hernia, Hypert... OMIM:612938
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation, Premature ovarian insufficiency OMIM:615889
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Increased CSF lactate, Pulmonary arterial hypertension, Hy... OMIM:619051
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Joubert Syndrome 3
Central apnea, Enlarged fossa interpeduncularis, Frontal polymicrogyria, Episodic tachypnea, Late... OMIM:608629
Martsolf Syndrome 2
Lateral ventricle dilatation, Hypogonadotropic hypogonadism OMIM:619420
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Hydrocephalus, Isomerism, Transposition of the great arteries, Neonatal death, Atri... OMIM:314390
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Hepatomegaly OMIM:607361
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Partial atrioventricular canal defect, Situs inversus totalis, Decreased nasal nitric oxide, Prim... OMIM:619608
Temple Syndrome
Cryptorchidism, Hydrocephalus ORPHA:254516
Triploidy
Hepatomegaly, Cryptorchidism, Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Hol... ORPHA:3376
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cardiomyopathy, Hydrocephalus OMIM:613155
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Hypoplastic left heart, ... OMIM:220210
Myopathy, Centronuclear, X-Linked
Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Cryptorchidism... OMIM:310400
Hemiparkinsonism-Hemiatrophy Syndrome
Neonatal asphyxia, Lateral ventricle dilatation ORPHA:306669
Edinburgh Malformation Syndrome
Hydrocephalus, Abnormality of neuronal migration, Respiratory insufficiency ORPHA:1895
Coach Syndrome 2
Hydrocephalus, Apneic episodes in infancy, Agenesis of corpus callosum OMIM:619111
Bresek Syndrome
Neonatal death, Cryptorchidism, Hydrocephalus, Decreased testicular size ORPHA:85284
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Congenital Myopathy 8
Reduced vital capacity, Respiratory insufficiency, Cardiomegaly OMIM:618654
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Hydrocephalus, Atrial septal defect, Pachygyria, Polymicrogyria, Ventr... OMIM:603387
47,Xyy Syndrome
Male infertility, Cryptorchidism, Asthma, Hydrocephalus, Oligozoospermia, Azoospermia, Macroorchi... ORPHA:8
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arterie... OMIM:306955
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Polymicrogyria, Type II lissencephaly OMIM:615181
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Apnea, Decreased CSF glutamine concentration, Subependymal cysts, ... OMIM:610015
Hemochromatosis, Type 1
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoospermia, Cardiomyopa... OMIM:235200
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:609757
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Pseudo-Torch Syndrome 2
Hepatomegaly, Acute respiratory distress syndrome, Secundum atrial septal defect, Respiratory ins... OMIM:617397
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Abnormality of the menstrual cycle, Enlarg... ORPHA:91348
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Lateral ventricle dilatation, Ventricular septal defect OMIM:618330
Emanuel Syndrome
Ventriculomegaly, Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hydrocephalus, H... ORPHA:96170
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:2182
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Ventriculomegaly, Subcortical heterotopia, Agyria, Type II lissencephaly, Partial ... OMIM:614643
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:618736
3C Syndrome
Ventriculomegaly, Ventricular septal defect, Abnormal mitral valve morphology, Hydrocephalus, Abn... ORPHA:7
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Joubert Syndrome With Ocular Defect
Encephalocele, Apnea, Dextrocardia, Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum, A... ORPHA:220493
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Cryptorchidism, Complete atrioventricular... OMIM:264480
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus OMIM:241800
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Ventriculomegaly OMIM:615630
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Walker-Warburg Syndrome
Abnormal cortical gyration, Pachygyria, Cryptorchidism, Hydrocephalus, Abnormality of neuronal mi... ORPHA:899
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hydrocephalus, Umbilical hernia, Abnormal heart morphology OMIM:601499
Joubert Syndrome With Renal Defect
Encephalocele, Apnea, Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum, Abnormal patter... ORPHA:220497
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Temple Syndrome
Cryptorchidism, Hydrocephalus, Decreased testicular size OMIM:616222
Weiss-Kruszka Syndrome
Ventricular septal defect, Bicuspid aortic valve, Dextrotransposition of the great arteries, Colp... OMIM:618619
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Pericarditis, Hydrocephalus ORPHA:163596
Emanuel Syndrome
Ventriculomegaly, Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hydrocephalus, P... OMIM:609029
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Respiratory insufficiency due to muscle weakness, Hydrocephalus, Lissencephaly, Agenesis of corpu... OMIM:615249
Adams-Oliver Syndrome 2
Hydrocephalus, Polymicrogyria, Lateral ventricle dilatation OMIM:614219
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Ventriculomegaly OMIM:253250
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Cryptorchidism, Respiratory insufficiency ORPHA:1237
Hydrolethalus
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Anencephaly ORPHA:2189
D-2-Hydroxyglutaric Aciduria 1
Apnea, Subependymal cysts, Cardiomyopathy, Lateral ventricle dilatation, Inspiratory stridor OMIM:600721
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Polymicrogyria OMIM:618731
Gorlin Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:377
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Endocardial fibroelastosis OMIM:600559
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Agenesis of corpus c... ORPHA:77298
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Joubert Syndrome With Oculorenal Defect
Encephalocele, Apnea, Hydrocephalus, Tachypnea, Abnormality of neuronal migration ORPHA:2318
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Pontocerebellar Hypoplasia, Type 1A
Lateral ventricle dilatation, Respiratory insufficiency, Intercostal muscle weakness OMIM:607596
Double Outlet Right Ventricle
Ventricular septal defect, Tachypnea, Double outlet right ventricle, Heterotaxy, Hypoplastic left... ORPHA:3426
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Hydrocephalus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ven... OMIM:612863
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus, Respiratory insufficiency ORPHA:93262
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly OMIM:620156
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Asthma, Recurrent pneumonia, Hydroce... OMIM:309900
Alg2-Cdg
Hepatomegaly, Lateral ventricle dilatation ORPHA:79326
Griscelli Syndrome
Encephalocele, Hepatomegaly, Hydrocephalus, Splenomegaly ORPHA:381
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Hydrocephalus, Agenesis of corpus callosum, Atrial septal defect, Umbi... OMIM:612582
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Ventricular septal defect, Abnormal cortical gyration, Splenomegaly, Hydrocephalus,... OMIM:614576
Craniosynostosis 6
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:616602
Cach Syndrome
Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hepatosplenomegaly, La... ORPHA:135
Holoprosencephaly 14
Ventriculomegaly, Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Periv... OMIM:619895
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Neonatal respiratory distress, Cardiomegaly, Hydrocephalus, Abnormality of neuronal... ORPHA:228308
Attrv30M Amyloidosis
Cardiomyopathy, Impotence, Cardiomegaly ORPHA:85447
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Hydrocephalus, Respiratory insufficiency, Abnormal heart morphology ORPHA:1865
B4Galt1-Cdg
Splenomegaly, Hepatomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Hydrocephalus, Ventriculomegaly, Periventricular heterotopia OMIM:619833
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Cryptorchidism, Hydrocephalus, Polymicrogyria, Ventriculomegaly ORPHA:1647
Hogue-Janssen Syndrome 2
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:616362
Thanatophoric Dysplasia Type 1
Hydrocephalus, Respiratory insufficiency, Gray matter heterotopia, Atrial septal defect, Ventricu... ORPHA:1860
Halperin-Birk Syndrome
Aspiration, Colpocephaly, Perimembranous ventricular septal defect, Umbilical hernia, Agenesis of... OMIM:618651
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Pericardial effusion, Hydrocephalus, Gray matter heterotopia, Lissencephaly, Pl... OMIM:617822
Aase-Smith Syndrome I
Hydrocephalus, Ventricular septal defect, Dandy-Walker malformation OMIM:147800
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus, Ventricular septal defect, Ventriculomegaly OMIM:219730
Trisomy 1Q
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculo... ORPHA:261344
Crouzon Syndrome
Hydrocephalus, Respiratory insufficiency ORPHA:207
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Dandy-Walker malformation OMIM:614424
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:109120
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida, Hydrocephalus, Myelomeningocele, Spina bifida occulta ORPHA:2437
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Thanatophoric Dysplasia, Type I
Neonatal death, Gray matter heterotopia, Neonatal respiratory distress, Hydrocephalus OMIM:187600
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Subvalvular aortic stenosis, Atrial sep... OMIM:613001
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Whipple Disease
Hepatomegaly, Pericarditis, Splenomegaly, Myocarditis, Hydrocephalus, Respiratory insufficiency, ... ORPHA:3452
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Hydrocephalus, Irregular menstruation, Respiratory failure, ... OMIM:616482
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Respiratory failure, Polymicrogyria, Agyria, Ventriculomegaly OMIM:616538
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Lissencephaly, Simplified gyral pattern ORPHA:284417
Pentalogy Of Cantrell
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Hydrocephalus, Anencep... ORPHA:1335
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
Desmosterolosis
Abnormal cortical gyration, Splenomegaly, Hydrocephalus, Abnormality of neuronal migration, Anoma... ORPHA:35107
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Type II lissencephaly, Hydrocephalus, Lateral ventricle dilatation, Di... OMIM:613154
Fixed Subaortic Stenosis
Orthopnea, Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Dyspnea, Abnormal hear... ORPHA:3092
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Asthma, Hydrocephalus, Hypogonadism, Dilated third ventricle, Ventriculomegaly ORPHA:500055
Fg Syndrome Type 1
Cryptorchidism, Hydrocephalus, Mitral valve prolapse, Pulmonary arterial hypertension, Atrial sep... ORPHA:93932
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Pontocerebellar Hypoplasia, Type 7
Cryptorchidism, Hydrocephalus, Apnea, Ventriculomegaly OMIM:614969
X-Linked Intellectual Disability, Wilson Type
Hydrocele testis, Lateral ventricle dilatation ORPHA:85290
Congenital Sialidosis Type 2
Hepatomegaly, Hydrocephalus, Hepatosplenomegaly, Abnormal heart morphology, Umbilical hernia ORPHA:93400
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Ventricular septal defect, Lateral ventricle dilatation, Apneic episode... ORPHA:3078
Dextrocardia
Dextrocardia, Situs inversus totalis, Hydrocephalus, Abnormal heart morphology, Abnormality of ab... ORPHA:1666
1Q44 Microdeletion Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Agenesis of corpus callosum, Ventriculomegaly ORPHA:238769
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hepatomegaly, Apnea, Splenomegaly, Hydrocephalus, Abnormality of neurona... ORPHA:1454
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Ventricular septal defect, Hydrocephalus, Hypogonadism, Ventricul... OMIM:300514
Genitopalatocardiac Syndrome
Cryptorchidism, Hydrocephalus, Abnormal cardiac septum morphology ORPHA:2075
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Asthma, Abnormal respiratory system ... ORPHA:330015
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Polymicrogyria, Ventriculomegaly ORPHA:60040
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Neonatal respiratory distress, Hydrocephalus, Abnormality of neuronal migration, Ca... ORPHA:157
Beck-Fahrner Syndrome
Extra-axial cerebrospinal fluid accumulation, Ventricular septal defect, Ventriculomegaly, Cardio... OMIM:618798
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Type II lissencephaly, Hydrocephalus, Pachygyria, Agenesis of corpus callosum, Ven... OMIM:613150
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Adams-Oliver Syndrome
Encephalocele, Abnormal pulmonary valve morphology, Hydrocephalus, Pulmonary arterial hypertensio... ORPHA:974
Nephronophthisis 18
Hydrocephalus OMIM:615862
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Pontocerebellar Hypoplasia, Type 13
Pleural effusion, Asthma, Dandy-Walker malformation, Lateral ventricle dilatation OMIM:618606
Neonatal Lupus Erythematosus
Hepatomegaly, Splenomegaly, Hydrocephalus, Dilated cardiomyopathy, Abnormal heart morphology ORPHA:398124
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomegaly, Pericardial effus... ORPHA:555874
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Cardiomegaly, Pneumothorax, Increased CSF lactate, Decreased CSF copper con... OMIM:620306
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Atrial septal defect, Aortic valve stenosis, Agenesis of corpus callosum, Dandy-Wa... ORPHA:459061
Lateral Meningocele Syndrome
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Meningocele, Umb... OMIM:130720
Multiple Sulfatase Deficiency
Hepatomegaly, Splenomegaly, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly OMIM:272200
Hemangioblastoma
Hydrocephalus ORPHA:252054
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Lateral ventricle dilatation OMIM:619517
Acquired Aneurysmal Subarachnoid Hemorrhage
Left ventricular hypertrophy, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate ORPHA:90065
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Umbilical hernia, Lateral ventricle dilatation, Patent foramen ovale, Pulmonic stenosis OMIM:618914
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cryptorchidism, Simplified gyral pattern, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:619244
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Cardiomegaly, Hypertrophic cardiomyopathy, Pleural effusion, Ventricul... OMIM:616897
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Cryptorchidism, Hydrocephalus, Umbilical hernia ORPHA:1555
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Neonatal respiratory distress, Ventriculomegaly, Apnea, Cardiomegaly, Dilated cardi... OMIM:608836
Tetrasomy 15Q26
Atrial septal defect, Hydrocephalus, Dandy-Walker malformation OMIM:614846
Lowry-Maclean Syndrome
Bilateral cryptorchidism, Atrioventricular canal defect, Hydrocephalus ORPHA:2409
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Central apnea, Episodic tachypnea, Hydrocephalus... OMIM:608091
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Periventricular heterotopia, Cryptorchidism, Dilated cardiomyopathy, C... ORPHA:261250
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Exertional dyspnea ORPHA:615
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Agyria, Type II lissencephaly, Meningoencephalocele, C... OMIM:236670
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Congenital hypertrophy of left ventric... OMIM:239850
Glutaric Acidemia I
Hepatomegaly, Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Distal Triplication 15Q
Hydrocephalus, Abnormal heart morphology, Hydrocele testis, Atrial septal defect, Dandy-Walker ma... ORPHA:314588
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Tetralogy of Fallot, Anomalous pulmonary venous return ORPHA:2184
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Crackles, Cardiomegaly, Dyspnea, Hepatosplenomegaly, Restrictive ventilatory defect... ORPHA:99931
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Secundum atrial septal defect, Cryptorchidism, Hydrocephalus OMIM:619951
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hyp... OMIM:212140
H Syndrome
Hydrocephalus, Bronchiectasis, Hepatosplenomegaly, Azoospermia, Hypogonadism, Chronic rhinitis, D... ORPHA:168569
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... OMIM:300280
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Dandy-Walker malformation, Ventriculomegaly, Apnea, Meningocele, Tachypn... ORPHA:397715
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect OMIM:243440
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:1812
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosu... OMIM:618476
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocard... OMIM:261740
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly, Atrial septal defect, Occipital meningocele, Polymicrogyria, Ventricu... OMIM:616546
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Anencephaly, Respiratory in... OMIM:269860
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Type II lissencephaly, Hy... OMIM:615287
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory failure ORPHA:1861
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Cardiomyopathy, Umbil... OMIM:253220
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Respiratory arrest, Cardiomegaly OMIM:600649
Tenorio Syndrome
Hydrocephalus, Recurrent pneumonia, Apnea, Ventriculomegaly OMIM:616260
Coronary Arterial Fistula
Orthopnea, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal heart morphology, Right ventr... ORPHA:2041
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614702
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Hydrocephalus, Hepatosplenomegaly OMIM:259710
Thoracoabdominal Syndrome
Hydrocephalus, Ectopia cordis, Anencephaly, Transposition of the great arteries OMIM:313850
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Patent foramen ovale, Colpocephaly, Atrial septal defect, Agenesis of ... OMIM:609053
Mirage Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Aspiration pneumonia, Decreased te... OMIM:617053
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Double outlet right ventricle, Hydrocephalus OMIM:614886
Endocrine-Cerebroosteodysplasia
Focal polymicrogyria, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Enlarged kidney, Agenesis... OMIM:612651
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Atrial septal defect, Agenesi... OMIM:257300
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cryptorchidism, Respiratory failure, Lateral ventricle dilatation OMIM:619847
Hurler Syndrome
Hepatomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, Cardiomyopathy, Endocardial fibroe... OMIM:607014
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Ventriculomegaly ORPHA:2169
Neurooculorenal Syndrome
Dextrocardia, Aqueductal stenosis, Cryptorchidism, Partial agenesis of the corpus callosum, Hydro... OMIM:620305
Arachnoiditis
Hydrocephalus ORPHA:137817
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Lis... ORPHA:63259
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Marshall-Smith Syndrome
Ventricular septal defect, Apnea, Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Airway... OMIM:602535
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Neonat... OMIM:608013
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus OMIM:224400
Trisomy 17P
Aortic valve stenosis, Hypoplastic left heart, Hydrocephalus ORPHA:261290
Mucopolysaccharidosis Type 1
Sinusitis, Abnormal heart valve morphology, Apnea, Splenomegaly, Hydrocephalus, Abnormal aortic v... ORPHA:579
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, Respiratory failure, Stillbirth, V... OMIM:259720
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Infertil... ORPHA:465508
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Pneumonia, Splenomegaly, Hydrocephalus, Cervical myelopathy, Cardiomyopathy, Restri... OMIM:253200
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Respiratory distress, Cardiomegaly, Pericardial effusion, ... OMIM:115197
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Intellectual Developmental Disorder, Autosomal Dominant 65
Agenesis of corpus callosum, Noncommunicating hydrocephalus OMIM:619320
Achondroplasia
Hypoxemia, Restrictive ventilatory defect, Hydrocephalus ORPHA:15
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum ORPHA:3301
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Abnormal cardiac septum morphology, Holoprosencepha... ORPHA:2166
Chromosome 17P13.1 Deletion Syndrome
Hydrocele testis, Umbilical hernia, Hydrocephalus, Spina bifida OMIM:613776
Monosomy 18Q
Absence of the pulmonary valve, Bilateral cryptorchidism, Secundum atrial septal defect, Hydrocep... ORPHA:1600
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Umbilical hernia, Hydrocephalus, Mitral valve prolapse OMIM:104350
Muenke Syndrome
Hydrocephalus ORPHA:53271
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Cryptorchidism, Hy... ORPHA:2162
Timothy Syndrome
Ventricular septal defect, Pneumonia, Cardiomegaly, Pulmonary arterial hypertension, Tetralogy of... OMIM:601005
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Lateral ventricle dilatation, Patent foramen ovale OMIM:620075
Dural Sinus Malformation
Myelopathy, Hydrocephalus ORPHA:97339
Osteopetrosis, Autosomal Recessive 1
Splenomegaly, Hepatomegaly, Hydrocephalus OMIM:259700
Complete Atrioventricular Septal Defect
Hepatomegaly, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal de... ORPHA:1329
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Hydrocephalus, Colpocephaly, Chordee, Atrial septal ... OMIM:309801
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Apnea, Cryptorchidism, Mitral valve prolapse, Abnormal aortic valve ... ORPHA:2462
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... ORPHA:324410
Developmental And Epileptic Encephalopathy 49
Dysplastic corpus callosum, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Vacterl With Hydrocephalus
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Spina bifida ORPHA:3412
Coccidioidomycosis
Respiratory distress, Pericarditis, Pneumonia, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pl... ORPHA:228123
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Splenomegaly, Hydrocephalus, Upper ai... ORPHA:581
Pfeiffer Syndrome Type 2
Respiratory distress, Hydrocephalus, Aqueductal stenosis, Tracheomalacia ORPHA:93259
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Multiple Sulfatase Deficiency
Splenomegaly, Hepatomegaly, Hydrocephalus ORPHA:585
Developmental And Epileptic Encephalopathy 31B
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620352
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Opitz-Kaveggia Syndrome
Cryptorchidism, Partial agenesis of the corpus callosum, Hydrocephalus, Abnormal heart morphology... OMIM:305450
Tetrasomy 5P
Respiratory distress, Pulmonary arterial hypertension, Hydrocephalus ORPHA:3309
Alpha-N-Acetylgalactosaminidase Deficiency
Recurrent pneumonia, Cardiomegaly ORPHA:3137
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Hydrocephalus, Abnormal heart morphology, Hepatosplenomegaly, Stridor, Atri... ORPHA:505248
Congenital Myopathy 22A, Classic
Neonatal death, Normal pressure hydrocephalus, Respiratory insufficiency OMIM:620351
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation, Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Exertional dyspnea, Cardiomegaly ORPHA:42
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Lateral ventricle dilatation, Increased CSF lactate ORPHA:565624
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Simplified gyral pattern, Lateral ventricle dilatation, ... ORPHA:300570
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocele testis, Hydrocephalus, Ventriculomegaly OMIM:613603
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Agenesis of corpus callosum OMIM:612940
Icf Syndrome
Communicating hydrocephalus, Umbilical hernia ORPHA:2268
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Communicating hydrocephalus, Umbilical hernia, Enlarged kidney, Ventriculom... OMIM:618188
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Aspiration, Lateral ventricle dilatation, Pachygyria, Agyria ORPHA:2148
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Patent foramen ovale, Partial agenesis of the corpus callosum, Colpoce... OMIM:620113
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Proteus-Like Syndrome
Communicating hydrocephalus, Splenomegaly, Hydrocephalus ORPHA:2969
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Increased CSF lactate, Cardiomegaly ORPHA:391428
Mogs-Cdg
Respiratory distress, Hepatomegaly, Hypoventilation, Apnea, Cardiomegaly, Hepatosplenomegaly, Hyd... ORPHA:79330
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect, Hydrocephalus, Upper airway obstruction OMIM:207410
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Hydrocephalus, Abnormal cardiac septum morphology, Agenesis of corpus callosum ORPHA:250989
Rhombencephalosynapsis
Hydrocephalus, Ventriculomegaly ORPHA:59315
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly ORPHA:2356
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Respiratory insufficiency, Colpocephaly, Mitral stenosis, Agenesis of corpus callosum, Ventriculo... OMIM:617260
Neuraminidase Deficiency
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:256550
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Hydrocephalus, Mitral valve prolapse, Atrial septal defect, ... OMIM:245600
Noonan Syndrome 14
Cryptorchidism, Mitral valve prolapse, Lateral ventricle dilatation, Pulmonic stenosis, Hypertrop... OMIM:619745
Rabin-Pappas Syndrome
Tracheomalacia, Hypoventilation, Hydrocephalus OMIM:620155
Cog5-Cdg
Hepatosplenomegaly, Cryptorchidism, Lateral ventricle dilatation, Hepatomegaly ORPHA:263487
Refsum Disease, Classic
Cardiomyopathy, Increased CSF protein concentration, Cardiomegaly OMIM:266500
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Atrial septal ... ORPHA:1340
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus, Abnormal heart morphology OMIM:239300
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Hypoxemia, Atrial septal defect, Paten... ORPHA:439
Hurler Syndrome
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Cardiomyopathy, Rhini... ORPHA:93473
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation OMIM:612301
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus, Umbilical hernia, Mitral valve prolapse OMIM:182212
Diets-Jongmans Syndrome
Heterotaxy, Umbilical hernia, Ventricular septal defect, Cryptorchidism OMIM:618846
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Ventricular septal defect, Cryptorchidism, Splenomegaly, Macrogyria, Hepatosplenome... OMIM:614866
Otopalatodigital Syndrome Type 2
Encephalocele, Abnormal heart valve morphology, Myelomeningocele, Hydrocephalus, Abnormal cardiac... ORPHA:90652
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Apert Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Respiratory insufficiency ORPHA:87
Meckel Syndrome
Encephalocele, Situs inversus totalis, Cryptorchidism, Hydrocephalus, Anencephaly, Lobar holopros... ORPHA:564
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Tachypnea, Respiratory arrest, Hypertrophic cardiomyopathy OMIM:201475
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Bilateral cryptorchidism, Dysplastic corpus callosum, Asthma, Lateral ventricle dilatation, Dilat... ORPHA:544488
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Apnea, Ventriculomegaly ORPHA:395
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Tracheomalacia, Cryptorchidism, Hydrocephalus, Simplified gyral patter... ORPHA:96121
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Acrodysostosis 1 With Or Without Hormone Resistance
Hypogonadism, Cryptorchidism, Hydrocephalus, Irregular menstruation OMIM:101800
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2378
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Hydrocephalus, Conotruncal defect, ... ORPHA:2306
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Tachypnea, Cardiomegaly OMIM:613320
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morp... ORPHA:363705
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Impotence, Increased CSF protein concentration, Cardiomegaly OMIM:105210
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Abnormal cortical gyration, Pachygyria, Cryptorchidism, Muscular ventr... OMIM:210710
Monosomy 9Q22.3
Umbilical hernia, Hydrocephalus, Cardiac fibroma, Ventriculomegaly ORPHA:77301
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venous return, Anomalous pul... OMIM:619657
Cryptococcosis
Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Cough, Pleural effusion, Prostatitis ORPHA:1546
Fanconi Anemia
Spina bifida, Cryptorchidism, Hydrocephalus, Tetralogy of Fallot, Azoospermia, Decreased fertilit... ORPHA:84
Apert Syndrome
Overriding aorta, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Agenesis of corpus ca... OMIM:101200
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus, Mitral valve prolapse OMIM:616914
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Spondyloepimetaphyseal Dysplasia, Krakow Type
Atrial septal defect, Hydrocephalus, Asthma, Allergic rhinitis OMIM:618162
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... ORPHA:2369
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus ORPHA:1834
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Hydrocephalus, Tachypnea, Cough, Agenesis ... ORPHA:137675
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:123790
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Pneumonia, Ventriculomegaly ORPHA:1855
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Lateral ventricle di... ORPHA:457279
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomeg... ORPHA:308552
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Desmosterolosis
Hydrocephalus, Partial agenesis of the corpus callosum, Total anomalous pulmonary venous return, ... OMIM:602398
Osteopathia Striata With Cranial Sclerosis
Ventricular septal defect, Apnea, Tracheomalacia, Partial agenesis of the corpus callosum, Hydroc... OMIM:300373
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus, Dextrocardia ORPHA:1571
Jacobsen Syndrome
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Atrial septal defect OMIM:147791
Attrv122I Amyloidosis
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... ORPHA:85451
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Large placenta, Cryptorchidi... OMIM:249000
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Testicular neoplasm, Spina bifida, Tracheomalac... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Testicular neoplasm, Spina bifida, Tracheomalac... ORPHA:363958
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Cryptorchidism, Partial agenesis of the corpus callosum, Hydrocephalus, Atri... OMIM:619512
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Dubowitz Syndrome
Cryptorchidism, Asthma, Hydrocephalus, Respiratory insufficiency, Spina bifida occulta ORPHA:235
Lhermitte-Duclos Disease
Hydrocephalus, Polymicrogyria ORPHA:65285
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Respiratory insufficiency, Atrial septa... ORPHA:163979
Fontaine Progeroid Syndrome
Atrial septal defect, Bicuspid aortic valve, Periventricular heterotopia, Cryptorchidism, Hydroce... OMIM:612289
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Tetrasomy 9P
Pericarditis, Dextrocardia, Cryptorchidism, Hydrocephalus, Oligozoospermia, Pulmonary arterial hy... ORPHA:3310
Orofaciodigital Syndrome I
Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Abnormal heart morphology, Gray matt... OMIM:311200
Cerebrooculonasal Syndrome
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:605627
Holoprosencephaly 7
Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Lobar holoprose... OMIM:610828
Aicardi Syndrome
Spina bifida, Pachygyria, Partial agenesis of the corpus callosum, Recurrent pneumonia, Choroid p... OMIM:304050
Trisomy 8P
Abnormal atrioventricular connection, Cryptorchidism, Hydrocephalus, Abnormal left ventricle morp... ORPHA:264450
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Achondroplasia
Respiratory distress, Hydrocephalus, Upper airway obstruction OMIM:100800
Basal Cell Nevus Syndrome 1
Cardiac rhabdomyoma, Hydrocephalus, Cardiac fibroma, Spina bifida OMIM:109400
Familial Aortic Dissection
Exertional dyspnea, Paroxysmal dyspnea, Cardiomegaly ORPHA:229
Aymé-Gripp Syndrome
Pericarditis, Pericardial effusion, Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:1272
Cardiofaciocutaneous Syndrome 1
Splenomegaly, Hydrocephalus, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:115150
Lymphangioleiomyomatosis
Dyspnea, Hydrocephalus, Pneumothorax, Chylopericardium, Restrictive ventilatory defect, Chylothor... ORPHA:538
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation OMIM:617296
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Ventricular septal defect, Lateral ventricle dilatation OMIM:619575
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Transposition of the great arteries, Tetr... ORPHA:1780
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Cryptorchidism, Spl... ORPHA:567
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Agenesi... OMIM:227646
Mycophenolate Mofetil Embryopathy
Tracheomalacia, Agenesis of corpus callosum, Hydrocephalus, Ventricular septal defect ORPHA:268249
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericarditis, Pericardial effusion, Hepatosplenomegaly, Lateral ventricle dilatatio... OMIM:619487
Crouzon Syndrome
Hydrocephalus OMIM:123500
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Mitral valve calcification, Splenomegaly, Aortic valve calcific... ORPHA:2072
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Cardiomyopathy, Lateral ventricle dilatation, Ventriculomegaly ORPHA:572798
Weaver Syndrome
Cryptorchidism, Hydrocele testis, Lateral ventricle dilatation, Umbilical hernia, Ventriculomegaly OMIM:277590
Mend Syndrome
Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Aortic valve stenosis, Dandy-Walker mal... ORPHA:401973
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Hypergonadotropic hypogonadism, Cardiomegaly, Splenomega... OMIM:602782
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly ORPHA:488627
15Q Overgrowth Syndrome
Pulmonary arterial hypertension, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malform... ORPHA:314585
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Tachypnea, Respiratory insufficiency, Hepato... OMIM:618278
Alexander Disease
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Respiratory insufficiency ORPHA:58
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Hydrocephalus, Respiratory insufficiency, Mitral v... ORPHA:536467
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Cryptorchidism, Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, ... OMIM:618820
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Tricuspid valve prol... ORPHA:261337
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Alobar holoprosencephaly, Agenesis of corpus callosum, Colpocephaly, H... OMIM:301043
Stromme Syndrome
Hydrocephalus, Stillbirth, Agenesis of corpus callosum OMIM:243605
Pseudo-Torch Syndrome 3
Apnea, Respiratory insufficiency, Cardiomegaly OMIM:618886
Capillary Malformation-Arteriovenous Malformation
Chylothorax, Hydrocephalus, Epistaxis, Abnormal heart morphology ORPHA:137667
Semilobar Holoprosencephaly
Central apnea, Hydrocephalus, Abnormal heart morphology, Neural tube defect, Aspiration pneumonia... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Hydrocephalus, Abnormal heart morphology, Neural tube defect, Aspiration pneumonia... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Hydrocephalus, Abnormal heart morphology, Neural tube defect, Aspiration pneumonia... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Hydrocephalus, Abnormal heart morphology, Neural tube defect, Aspiration pneumonia... ORPHA:93924
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Hydrocephalus, Dilated cardiomyopathy, Mitral valve prolapse, Resp... ORPHA:2556
Osteootohepatoenteric Syndrome
Asthma, Hydrocephalus OMIM:619377
Marden-Walker Syndrome
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Hydrocephalus, Abnormal anatomic... ORPHA:2461
Gaucher Disease
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium m... ORPHA:355
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Abnormal heart m... ORPHA:79282
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Recurrent pneumonia, Lateral ventricle dilatation, Atrial septal defec... ORPHA:464738
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Hydrocephalus, Abnormal... OMIM:114290
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary va... ORPHA:580
Hajdu-Cheney Syndrome
Cryptorchidism, Hydrocephalus, Umbilical hernia, Ventricular septal defect OMIM:102500
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules ORPHA:25
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Impotence, Cardiomegaly OMIM:268800
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cryptorchidism, Umbilical hernia, Cardiomegaly OMIM:618143
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Dextrocardia, Left Isomerism, Situs inversus totalis, Patent foramen o... OMIM:619702
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Enlarged polycystic ovaries, Cryptorchidism, Hydrocephalus, Decreased fertility, Primary amenorrh... ORPHA:95699
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Elevated pulmonary artery pressure, Left ven... ORPHA:57777
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Kabuki Syndrome
Cryptorchidism, Hydrocephalus, Abnormal cardiac septum morphology, Ventriculomegaly ORPHA:2322
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Lateral ventricle dilatation, Dilated cardiomyopathy, Agenesis of co... OMIM:300952
Cantú Syndrome
Umbilical hernia, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Sickle Cell Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypoxemia, Priapism OMIM:603903
Mend Syndrome
Cryptorchidism, Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:617713
Ogden Syndrome
Ventriculomegaly, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Card... OMIM:300855
Hajdu-Cheney Syndrome
Hepatomegaly, Mitral stenosis, Ventricular septal defect, Splenomegaly, Hydrocephalus, Umbilical ... ORPHA:955
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Absence Of The Pulmonary Artery
Orthopnea, Cardiomegaly, Nonproductive cough, Dyspnea, Recurrent pneumonia, Bronchiectasis, Abnor... ORPHA:980
Hydrolethalus Syndrome 1
Ventricular septal defect, Abnormal cortical gyration, Complete atrioventricular canal defect, An... OMIM:236680
Fraser Syndrome 3
Hydrocephalus, Stillbirth OMIM:617667
Gabriele-De Vries Syndrome
Cryptorchidism, Lateral ventricle dilatation, Patent foramen ovale OMIM:617557
Sturge-Weber Syndrome
Hydrocephalus, Pulmonary embolism ORPHA:3205
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus OMIM:616007
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Ventricular septal defect, Periventricular heterotopia, Cryptorchidism, Splenomegal... OMIM:270400
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Cardiomyopathy, Communicating hydrocephalus OMIM:616084
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Apnea, Abnormal pulmonary valve morphology, Splenomegaly, Hydrocephalus, Chronic rh... ORPHA:667
Costello Syndrome
Ventricular septal defect, Tracheomalacia, Hydrocephalus, Pneumothorax, Respiratory insufficiency... OMIM:218040
Craniopharyngioma
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:54595
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, Hydrocephalus, Stillbirth, Short umbilical cord, Small placenta OMIM:208150
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dyspnea, Dilated cardiomyopathy, Pulmonary... OMIM:614921
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Colpocephaly, Chordee, Patent foramen ovale ORPHA:477993
Holoprosencephaly 9
Abnormal cortical gyration, Cryptorchidism, Partial agenesis of the corpus callosum, Hydrocephalu... OMIM:610829
Raine Syndrome
Neonatal death, Hydrocephalus OMIM:259775
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Cryptorchid... ORPHA:96191
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Respiratory insufficiency due to muscle weakness, Splenomegaly, Dyspn... OMIM:232300
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Pachygyria, Cryptorchidism, Hydrocephalus, Cardiomyopath... ORPHA:3472
Bohring-Opitz Syndrome
Ventriculomegaly, Apnea, Cardiomegaly, Abnormal cardiac septum morphology, Agenesis of corpus cal... ORPHA:97297
Mohr Syndrome
Hydrocephalus OMIM:252100
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Exstrophy-Epispadias Complex
Spina bifida, Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Male sexual dysfunction, ... ORPHA:322
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Aqueductal stenosis, Hydrocephalus, Tetralogy of Fallot, Polymicrogyria OMIM:154400
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:91350
Meningioma
Hypogonadotropic hypogonadism, Progressive pulmonary function impairment, Hydrocephalus, Abnormal... ORPHA:2495
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Cryptorchidism, Colpocephaly OMIM:620083
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Cor triatriatum, Ventricular septal defect, Dextrocardia, Situs inversus totalis, S... OMIM:619534
Medulloblastoma
Hydrocephalus ORPHA:616
Fraser Syndrome 1
Encephalocele, Abnormal cortical gyration, Cryptorchidism, Myelomeningocele, Hydrocephalus, Abnor... OMIM:219000
Lenz-Majewski Hyperostotic Dwarfism
Hypogonadism, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum ORPHA:2658
Khan-Khan-Katsanis Syndrome
Colpocephaly, Patent foramen ovale, Ventriculomegaly OMIM:618460
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Dandy-Walker malformation ORPHA:722
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Myelopathy, Splenomegaly, Recurrent pneumonia, Umbilical hernia, Hype... OMIM:252500
Cockayne Syndrome A
Hepatomegaly, Splenomegaly, Cryptorchidism, Irregular menstruation, Normal pressure hydrocephalus... OMIM:216400
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus ORPHA:637
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Pachygyria, Crypt... OMIM:607872
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility, Enlarged kidney, Mitral valve prolapse ORPHA:730
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Umbilical hernia, Pneumonia, Hepatosplenomegaly ORPHA:309282
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia, Hepatosplenomegaly ORPHA:168577
Otopalatodigital Syndrome, Type Ii
Spina bifida, Cryptorchidism, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stil... OMIM:304120
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:457284
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Osteogenesis Imperfecta
Abnormal endocardium morphology, Neonatal respiratory distress, Hydrocephalus, Noncommunicating h... ORPHA:666
Pseudoaminopterin Syndrome
Cryptorchidism, Hydrocephalus, Patent foramen ovale ORPHA:221120
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cryptorchidism, Splenomeg... OMIM:312870
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Bicuspid aortic valve, Ventricular septal defect, Pneumoni... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Bicuspid aortic valve, Ventricular septal defect, Pneumoni... ORPHA:353277
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Hepatomegaly, Orthopnea, Cardiomegaly, Respiratory insufficiency due to mus... ORPHA:365
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Peters Plus Syndrome
Cryptorchidism, Hydrocephalus, Bicuspid pulmonary valve, Abnormal cardiac septum morphology, Hypo... ORPHA:709
Oeis Complex
Cryptorchidism, Myelomeningocele, Hydrocephalus OMIM:258040
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Neonatal respiratory distress, Ventriculomegaly, Lateral ventricle dilatation OMIM:619479
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Respiratory failure, Cardiomegaly ORPHA:158687
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... OMIM:300967
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Cardiomyopathy, Dandy-Walker ... OMIM:130650
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Cardiomegaly OMIM:614473
Kabuki Syndrome 1
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation, Atrial se... OMIM:147920
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve prol... ORPHA:363700
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Abnormality of neuronal migration, Gray matter heterotopia, Colpocep... ORPHA:75857
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Lateral ventricle dilatation, Pachygyria, Ventricular septal defect OMIM:263520
Microphthalmia With Limb Anomalies
Cryptorchidism, Hydrocephalus ORPHA:1106
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Hypoplasia of the ovary, Decreased testicular size OMIM:619321
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Epistaxis, Cryptorchidism, Asthma, Agenesis of corpus callosum, Mild... OMIM:619841
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ventricular septal defect, Bicuspid aortic valve, Hydrocephalus, Decreased CSF 5-methyltetrahydro... OMIM:619475
Aicardi-Goutières Syndrome
Cardiomegaly, Chronic CSF lymphocytosis, Hepatosplenomegaly, Increased CSF interferon alpha, Hype... ORPHA:51
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Type II lissencephaly, Hydrocephalus, Pachygyria, Polymicrogyria, Ventriculomegaly OMIM:253280
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Spontaneous pneumothorax, Hydrocephalus, Bicuspid pulmonary valve, Mitral ... OMIM:610168
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Hydrocephalus, Hypogonadism ORPHA:3042
Wolf-Hirschhorn Syndrome
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Atrial septal defect, Agenesis of corpu... OMIM:194190
Arterial Calcification, Generalized, Of Infancy, 1
Neonatal respiratory distress, Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation, Short umbilical cord OMIM:618367
Fanconi Anemia, Complementation Group L
Hydrocephalus OMIM:614083
Cockayne Syndrome B
Splenomegaly, Cryptorchidism, Normal pressure hydrocephalus, Hepatomegaly OMIM:133540
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation, Recurrent pneumonia, Upper airway obstruction, Respiratory insuffic... OMIM:614098
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly OMIM:619259
Baller-Gerold Syndrome
Hydrocephalus, Abnormal heart morphology, Spina bifida occulta, Agenesis of corpus callosum, Poly... OMIM:218600
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Hydrocephalus, Bicuspid pulmonary valve, Mitral valve prolapse, Atrial sep... OMIM:609192
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Pneumothorax, Paroxysmal dyspnea, Exertional dyspnea ORPHA:91387
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Dyspnea, Right ventricular hypertrophy, Pleural effusion, Atrial sept... ORPHA:1677
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Townes-Brocks Syndrome 1
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Atrial septal defect... OMIM:107480
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Secundum atrial septal defect, Cryptorchidism, Hydrocephalus, Agenesis of corpus callo... OMIM:264090
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Ventriculomegaly OMIM:617011
Focal Dermal Hypoplasia
Cryptorchidism, Myelomeningocele, Hydrocephalus, Umbilical hernia, Spina bifida occulta, Agenesis... OMIM:305600
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Double inlet left ventricle, Lateral ventricle dilatation, Atrial septa... OMIM:619869
Fucosidosis
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:230000
Peters-Plus Syndrome
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Atrial septal defect... OMIM:261540
Tuberous Sclerosis Complex
Respiratory distress, Noncommunicating hydrocephalus, Cardiac rhabdomyoma, Respiratory failure, S... ORPHA:805
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Genitopatellar Syndrome
Ventricular septal defect, Periventricular heterotopia, Cryptorchidism, Colpocephaly, Atrial sept... OMIM:606170
Neurofibromatosis Type 1
Cryptorchidism, Hydrocephalus ORPHA:636
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tachypnea, Abnormal hea... ORPHA:3384
Carney Complex
Abnormal sperm motility, Testicular neoplasm, Cardiac myxoma, Testicular adrenal rest tumor, Olig... ORPHA:1359
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Pneumonia, Cardiomegaly, Cough,... OMIM:619991
Wiedemann-Rautenstrauch Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Congenital malformation of the left heart, Hydroce... ORPHA:3455
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Progressive ventriculomegaly, Dysplastic corpus callosum, Simplified gyral pattern, Abnormal hear... ORPHA:500150
Abetalipoproteinemia
Hepatomegaly, Respiratory failure, Cardiomegaly ORPHA:14
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Ventriculomegaly ORPHA:457359
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Frontal encephalocele, Stillbirth, Atri... OMIM:268300
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Cryptorchidism, Large placenta, Splenomegaly, Umbilical hernia, Hyper... ORPHA:116
Coffin-Siris Syndrome 12
Cryptorchidism, Tetralogy of Fallot, Patent foramen ovale, Noncommunicating hydrocephalus OMIM:619325
Tropical Endomyocardial Fibrosis
Hepatomegaly, Orthopnea, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly,... ORPHA:75565
Williams Syndrome
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... ORPHA:904
Tetraamelia Syndrome 1
Hydrocephalus OMIM:273395
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Irregular menstruation, Recurrent sinusitis OMIM:256040
Renal Cysts And Diabetes Syndrome
Reduced sperm motility OMIM:137920
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Hydrocephalus, Branchial anomaly, Tetralogy o... OMIM:164210
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Respiratory distress, Cardiomegaly, Pericardial effusion, Myocardial cal... ORPHA:51608
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Pleural effusion, Subvalvul... OMIM:182250

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 Clxn

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 Clxn.

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

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
Clxntm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Clxntm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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