Gene Summary

Name:
coiled-coil domain containing 40
Synonyms:
B930008I02Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased leukocyte cell number Ccdc40em1(IMPC)J HOM Early adult 1.71×10-10
increased circulating alanine transaminase level Ccdc40em1(IMPC)J HOM Early adult 3.33×10-05
male infertility Ccdc40em1(IMPC)J HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
Viewing: all phenotypes

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.

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Combined SHIRPA and Dysmorphology

Images

3 Images

Electroretinography 3

Fundus file

5 Images

X-ray

XRay Images Forepaw

10 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Electrocardiogram (ECG)

Waveform Image

16 Images

Human diseases caused by Ccdc40 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.

The table below shows human diseases associated to Ccdc40 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Ccdc40 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 17
Male infertility OMIM:617214
Ciliary Dyskinesia, Primary, 44
Heterotaxy, Bronchiectasis, Recurrent sinusitis OMIM:618781
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
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 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:617960
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619528
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Anemia, Leukocytosis OMIM:619398
Spermatogenic Failure 63
Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Spermatogenic Failure 32
Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis ORPHA:1646
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Situs inversus t... OMIM:613807
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo... OMIM:301101
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Dextrocardia
Abnormality of abdominal situs, Abnormal lung lobation, Situs inversus totalis, Abnormality of th... ORPHA:1666
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Abdominal situs inversus, Recurrent lower respirato... OMIM:618699
Spermatogenic Failure 38
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... OMIM:618433
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Primary Ciliary Dyskinesia
Ventriculomegaly, Atelectasis, Pulmonary situs ambiguus, Situs inversus totalis, Respiratory trac... ORPHA:244
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... OMIM:620356
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida, Abnormal lung lobation ORPHA:945
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Immunodeficiency 69
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... OMIM:618963
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Ciliary Dyskinesia, Primary, 40
Azoospermia, Situs inversus totalis, Absent outer dynein arms, Left Isomerism OMIM:618300
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Renpenning Syndrome
Heterotaxy ORPHA:3242
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Isomerism, Hydrocephalus, Pulmonary hypoplasia OMIM:314390
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Ciliary Dyskinesia, Primary, 18
Abdominal situs ambiguus, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Absent... OMIM:614874
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Abdominal situs ambiguus, Situs inversus totalis, Bronchiectasis OMIM:617092
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Oligozoospermia, Male infertility OMIM:620103
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Male infertility OMIM:618948
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Recurrent respiratory infections, Heterotaxy ORPHA:1330
Kleeblattschaedel
Hydrocephalus OMIM:148800
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, Situs inversus totalis, Het... OMIM:616749
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Pulmonary hypoplasia OMIM:618174
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Situs inversus totalis, Encephalocele, Hydrocephalus, Pulmonary artery atresia... ORPHA:1908
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Double Outlet Right Ventricle
Pulmonary artery atresia, Heterotaxy ORPHA:3426
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Situs inversus totalis, Recurrent bronchitis, Communicating hydrocephalus... OMIM:244400
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypocalcemic seizures, Male infertility ORPHA:2239
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Fried Syndrome
Hydrocephalus ORPHA:85335
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus OMIM:619301
Spermatogenic Failure 14
Azoospermia, Male infertility, Round spermatid arrest OMIM:615842
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Oligozoospermia, Male infertility ORPHA:48
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Thanatophoric Dysplasia Type 2
Ventriculomegaly, Encephalocele, Hydrocephalus, Aplasia/Hypoplasia of the lungs, Holoprosencephaly ORPHA:93274
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility OMIM:277180
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Spermatogenic Failure 28
Non-obstructive azoospermia, Male infertility OMIM:618086
Alexander Disease
Increased CSF protein concentration, Hydrocephalus OMIM:203450
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Metatropic Dysplasia
Hydrocephalus, Aplasia/Hypoplasia of the lungs ORPHA:2635
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus OMIM:614120
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus, Pulmonary hypoplasia OMIM:241800
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Hydrocephalus ORPHA:251915
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Umbilical hernia ORPHA:1516
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Ventriculomegaly, Hydrocephalus OMIM:610333
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Increased CSF lactate, Increased CSF lysine concentration, Colpocephaly, Hydroc... OMIM:616034
Familial Peripheral Male-Limited Precocious Puberty
Oligozoospermia, Male infertility ORPHA:3000
Spermatogenic Failure 13
Azoospermia, Male infertility OMIM:615841
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Spina bifida occulta, Situs inversus totalis, Hydrocephalus OMIM:613686
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus ORPHA:2183
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Thanatophoric Dysplasia
Ventriculomegaly, Hydrocephalus, Pulmonary hypoplasia ORPHA:2655
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Hydrocephalus OMIM:304100
Congenital Toxoplasmosis
Ventriculomegaly, Hydrocephalus ORPHA:858
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Umbilical hernia ORPHA:380
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus OMIM:248000
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Situs inversus t... OMIM:613808
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus OMIM:602501
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility OMIM:617091
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Joubert Syndrome
Hydrocephalus, Situs inversus totalis, Encephalocele ORPHA:475
Diets-Jongmans Syndrome
Heterotaxy, Umbilical hernia OMIM:618846
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hydrocephalus OMIM:618577
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Splenomegaly, Leukocytosis OMIM:618042
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus ORPHA:2182
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Hydrocephalus ORPHA:272
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613153
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, Umbilical hernia ORPHA:2181
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus OMIM:613155
Meckel Syndrome, Type 6
Occipital encephalocele, Bilobed right lung, Hydrocephalus, Anencephaly, Pulmonary hypoplasia OMIM:612284
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Partial anomalous pulmonary venous return, Isomerism, Anomalous pulmonary venous return OMIM:619657
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Abnormal spermatogenesis, Male ... ORPHA:261529
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Thanatophoric Dysplasia, Type I
Neonatal death, Hydrocephalus, Pulmonary hypoplasia OMIM:187600
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Priapism, Persistence ... ORPHA:232
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Umbilical hernia ORPHA:171839
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Hydrocephalus, Umbilical hernia OMIM:175700
Nasu-Hakola Disease
Ventriculomegaly, Hydrocephalus ORPHA:2770
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida, Hydrocephalus, Spina bifida occulta, Pulmonary hypoplasia ORPHA:2437
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Cervical myelopathy, Spina bifida OMIM:207950
Diabetic Embryopathy
Spinal dysraphism, Hydrocephalus, Abnormality of the pulmonary artery ORPHA:1926
Krabbe Disease
Increased CSF protein concentration, Hydrocephalus OMIM:245200
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Anomalous pulmonary venous return ORPHA:2184
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:611134
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Bresek Syndrome
Hydrocephalus, Neonatal death ORPHA:85284
Hereditary Chronic Pancreatitis
Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:676
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus ORPHA:370959
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Plasminogen Deficiency, Type I
Ventriculomegaly, Recurrent upper respiratory tract infections, Hydrocephalus, Dandy-Walker malfo... OMIM:217090
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly, Aplasia/Hypoplasia of the lungs ORPHA:1860
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Coach Syndrome 2
Hydrocephalus OMIM:619111
Temple Syndrome
Hydrocephalus ORPHA:254516
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:225790
Houge-Janssens Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:616362
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Hydrocephalus OMIM:609757
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Emanuel Syndrome
Ventriculomegaly, Recurrent sinusitis, Hydrocephalus, Recurrent respiratory infections, Dandy-Wal... OMIM:609029
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Hydrocephalus OMIM:218350
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Aplasia/Hypoplasia of the lungs, Abnormal lung lobation ORPHA:3301
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:615630
Houge-Janssens Syndrome 1
Ventriculomegaly, Hydrocephalus OMIM:616355
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Hydrocephalus, Abnormal lung lobation OMIM:300514
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hydrocephalus OMIM:601794
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Colpocephaly, Hydrocephalus OMIM:619833
Nephronophthisis 18
Hydrocephalus OMIM:615862
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hydrocephalus OMIM:109120
Fraser Syndrome 3
Hydrocephalus, Stillbirth, Abnormal lung lobation OMIM:617667
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Pleural effusion, Hydrocephalus, Dandy-Walker malformation OMIM:617822
Crouzon Syndrome
Hydrocephalus ORPHA:207
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Aplasia/Hypoplasia of the lungs ORPHA:1834
Temple Syndrome
Hydrocephalus OMIM:616222
Tetrasomy 5P
Recurrent respiratory infections, Hydrocephalus, Pulmonary hypoplasia ORPHA:3309
Thoracoabdominal Syndrome
Anencephaly, Hydrocephalus, Pulmonary hypoplasia OMIM:313850
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Encephalocele, Pulmonary hypoplasia ORPHA:1865
3C Syndrome
Ventriculomegaly, Recurrent respiratory infections, Hydrocephalus, Dandy-Walker malformation ORPHA:7
Pentalogy Of Cantrell
Hydrocephalus, Anencephaly, Encephalocele, Pulmonary hypoplasia ORPHA:1335
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus OMIM:614195
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Hemangioblastoma
Hydrocephalus ORPHA:252054
Emanuel Syndrome
Ventriculomegaly, Recurrent respiratory infections, Hydrocephalus, Dandy-Walker malformation ORPHA:96170
Proteus-Like Syndrome
Communicating hydrocephalus, Bronchogenic cyst, Hydrocephalus ORPHA:2969
Triploidy
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:3376
Congenital Sialidosis Type 2
Hydrocephalus, Respiratory tract infection, Umbilical hernia ORPHA:93400
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Tenorio Syndrome
Ventriculomegaly, Recurrent pneumonia, Hydrocephalus OMIM:616260
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation OMIM:220210
Peho Syndrome
Ventriculomegaly, Recurrent respiratory infections, Hydrocephalus ORPHA:2836
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Colpocephaly, Communicating hydrocephalus, Hydrocephalus OMIM:615219
Icf Syndrome
Recurrent respiratory infections, Communicating hydrocephalus, Umbilical hernia ORPHA:2268
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Colpocephaly, Hydrocephalus OMIM:620156
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation, Umbilical hernia OMIM:612582
Griscelli Syndrome
Hydrocephalus, Encephalocele ORPHA:381
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Joubert Syndrome 14
Hydrocephalus, Meningocele, Encephalocele, Dandy-Walker malformation OMIM:614424
Congenital Disorder Of Glycosylation, Type Iil
Ventriculomegaly, Hydrocephalus OMIM:614576
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventriculomegaly, Hydrocephalus OMIM:603387
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Distal Triplication 15Q
Hydrocephalus, Dandy-Walker malformation, Pulmonary hypoplasia ORPHA:314588
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Ventriculomegaly, Occipital meningocele, Hydrocephalus, Anencephaly, Pulmonary hypoplasia OMIM:616546
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Short-Rib Thoracic Dysplasia 12
Atelectasis, Neonatal death, Hydrocephalus, Holoprosencephaly, Anencephaly, Pulmonary hypoplasia OMIM:269860
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Hydrocephalus ORPHA:2169
Hydrolethalus
Anencephaly, Hydrocephalus ORPHA:2189
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Heterotaxy, Pulmonary artery stenosis, Infraca... ORPHA:99125
Arachnoiditis
Hydrocephalus ORPHA:137817
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:1647
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Spina bifida, Pulmonary hypoplasia ORPHA:3412
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Dandy-Walker malformation, Umbilical hernia OMIM:612938
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Abdominal situs inversus, Myelomeningocele, Right atrial... OMIM:306955
Adams-Oliver Syndrome
Hydrocephalus, Pulmonary artery atresia, Encephalocele ORPHA:974
Fanconi Anemia, Complementation Group A
Pancytopenia, Anemia, Reticulocytopenia, Hypergonadotropic hypogonadism, Neutropenia, Thrombocyto... OMIM:227650
Pettigrew Syndrome
Aqueductal stenosis, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:304340
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Elevated circulating creatinine concentration, Hepatosplenomegaly, Decreased circul... ORPHA:85450
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:60040
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
Mucopolysaccharidosis, Type Ii
Recurrent pneumonia, Hydrocephalus, Umbilical hernia OMIM:309900
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal... OMIM:613154
Multiple Sulfatase Deficiency
Increased CSF protein concentration, Ventriculomegaly, Hydrocephalus OMIM:272200
Muenke Syndrome
Hydrocephalus ORPHA:53271
Acquired Aneurysmal Subarachnoid Hemorrhage
Increased CSF lactate, Hydrocephalus, Hyperglycorrhachia ORPHA:90065
Meckel Syndrome
Situs inversus totalis, Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy... ORPHA:564
Whipple Disease
Pleuritis, Hydrocephalus ORPHA:3452
Trisomy 1Q
Ventriculomegaly, Hydrocephalus ORPHA:261344
1Q44 Microdeletion Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:238769
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Hydrocephalus, Dandy-Walker malformation OMIM:613001
Holoprosencephaly-Postaxial Polydactyly Syndrome
Umbilical hernia, Abnormal lung lobation, Encephalocele, Hydrocephalus, Holoprosencephaly ORPHA:2166
Mucopolysaccharidosis, Type Vii
Recurrent upper respiratory tract infections, Hydrocephalus, Chronic bronchitis, Umbilical hernia OMIM:253220
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Choroid plexus cyst, Hydrocephalus OMIM:617866
47,Xyy Syndrome
Azoospermia, Hydrocephalus, Oligozoospermia ORPHA:8
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Holoprosencephaly... OMIM:619895
Pelvis-Shoulder Dysplasia
Hydrocephalus, Hydranencephaly, Spina bifida ORPHA:2839
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:459061
Desmosterolosis
Ventriculomegaly, Hydrocephalus, Anomalous pulmonary venous return ORPHA:35107
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Hydrocephalus ORPHA:77298
Walker-Warburg Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:899
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:618476
Lymphangioleiomyomatosis
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pneumothorax, Hydrocephalus,... ORPHA:538
Fg Syndrome Type 1
Ventriculomegaly, Hydrocephalus, Umbilical hernia ORPHA:93932
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Atelectasis, Colpocephaly... OMIM:620371
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Encephalocele ORPHA:2318
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus, Neonatal death OMIM:620351
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus, Neonatal death OMIM:616482
Pontocerebellar Hypoplasia, Type 7
Ventriculomegaly, Hydrocephalus OMIM:614969
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus OMIM:614886
Joubert Syndrome With Renal Defect
Hydrocephalus, Encephalocele ORPHA:220497
Mirage Syndrome
Hydrocephalus, Aspiration pneumonia OMIM:617053
Achondroplasia
Hydrocephalus, Pulmonary hypoplasia OMIM:100800
Trisomy 17P
Hydrocephalus ORPHA:261290
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus, Umbilical hernia OMIM:601499
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Rhombencephalosynapsis
Ventriculomegaly, Hydrocephalus ORPHA:59315
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Peripheral pulmonary artery stenosis, Dilated third ventricle, Lateral ventricle dilatation, Hydr... OMIM:619575
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Encephalocele OMIM:224400
Lowry-Maclean Syndrome
Hydrocephalus ORPHA:2409
Raine Syndrome
Neonatal death, Hydrocephalus, Pulmonary hypoplasia OMIM:259775
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Ventriculomegaly, Dilated third ventricle, Hydrocephalus ORPHA:500055
Otopalatodigital Syndrome Type 2
Myelomeningocele, Hydrocephalus, Encephalocele, Pulmonary hypoplasia ORPHA:90652
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Lateral ventricle dilatation OMIM:612863
Hurler Syndrome
Recurrent respiratory infections, Hydrocephalus, Umbilical hernia OMIM:607014
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Hydrocephalus OMIM:219730
Joubert Syndrome With Ocular Defect
Hydrocephalus, Encephalocele ORPHA:220493
H Syndrome
Hydrocephalus, Azoospermia, Bronchiectasis, Recurrent pharyngitis ORPHA:168569
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Coccidioidomycosis
Pneumonia, Increased CSF protein concentration, Hypoglycorrhachia, Exudative pleural effusion, CS... ORPHA:228123
Congenital Syphilis
Pneumonia, Large placenta, Hydrocephalus, CSF pleocytosis ORPHA:499009
Medulloblastoma
Hydrocephalus, Neoplasm of the lung ORPHA:616
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Holoprosencephaly, Encephalocele OMIM:253800
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus OMIM:619951
Dural Sinus Malformation
Myelopathy, Hydrocephalus ORPHA:97339
Desmosterolosis
Ventriculomegaly, Total anomalous pulmonary venous return, Hydrocephalus OMIM:602398
Iniencephaly
Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Hydrocephalus, Holoprosencephal... ORPHA:63259
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:1812
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Male hypogonadism, Decreased fertility, Decreased circulating renin level... ORPHA:90793
Joubert Syndrome 2
Hydrocephalus, Enlarged fossa interpeduncularis, Encephalocele OMIM:608091
Holoprosencephaly
Spinal dysraphism, Branchial anomaly, Encephalocele, Aplasia/Hypoplasia of the lungs, Hydrocephal... ORPHA:2162
Lateral Meningocele Syndrome
Meningocele, Hydrocephalus, Umbilical hernia OMIM:130720
Functioning Gonadotropic Adenoma
Hydrocephalus, Oligozoospermia ORPHA:91348
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Ventriculomegaly, Hydrocephalus OMIM:616538
Achondroplasia
Hydrocephalus ORPHA:15
Arachnoid Cyst
Hydrocephalus, Holoprosencephaly, Enlarged fossa interpeduncularis, Encephalocele ORPHA:2356
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Spina bifida, Umbilical hernia OMIM:613776
Heterotaxy, Visceral, 12, Autosomal
Abdominal situs ambiguus, Situs inversus totalis, Partial anomalous pulmonary venous return, Pulm... OMIM:619702
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Ventriculomegaly, Encephalocele, Dandy-Walker malformation OMIM:614643
Pseudotrisomy 13 Syndrome
Hydrocephalus, Holoprosencephaly, Encephalocele OMIM:264480
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Mucopolysaccharidosis Type 1
Recurrent respiratory infections, Hydrocephalus ORPHA:579
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus, Umbilical hernia ORPHA:1555
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Mucopolysaccharidosis Type 3
Ventriculomegaly, Umbilical hernia, Aspiration pneumonia, Respiratory tract infection, Recurrent ... ORPHA:581
Mucopolysaccharidosis, Type Vi
Pneumonia, Cervical myelopathy, Recurrent upper respiratory tract infections, Umbilical hernia, H... OMIM:253200
Marden-Walker Syndrome
Situs inversus totalis, Hydrocephalus ORPHA:2461
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus, Repeated pneumothoraces, Atelectasis, Pulmonary hypoplasia ORPHA:536467
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Osteopetrosis, Autosomal Recessive 5
Ventriculomegaly, Hydrocephalus, Stillbirth OMIM:259720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Ventriculomegaly, Encephalocele OMIM:613150
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus OMIM:616914
Crouzon Syndrome
Hydrocephalus OMIM:123500
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Cryptococcosis
Pneumonia, Nodular pattern on pulmonary HRCT, Pleural effusion, Hydrocephalus ORPHA:1546
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Hydrocephalus ORPHA:2306
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation OMIM:612301
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Rabin-Pappas Syndrome
Hydrocephalus OMIM:620155
Marshall-Smith Syndrome
Recurrent upper respiratory tract infections, Ventriculomegaly, Umbilical hernia, Aspiration pneu... OMIM:602535
Genitopalatocardiac Syndrome
Hydrocephalus ORPHA:2075
Hurler Syndrome
Recurrent respiratory infections, Hydrocephalus ORPHA:93473
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:257300
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus ORPHA:1454
Apert Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:87
Trisomy 8P
Peripheral pulmonary artery stenosis, Recurrent upper respiratory tract infections, Abnormal lung... ORPHA:264450
Endocrine-Cerebroosteodysplasia
Ventriculomegaly, Holoprosencephaly, Hydrocephalus OMIM:612651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Ventriculomegaly, Occipital encephalocele, Hydrocephalus, Meningoencephalocele, Dandy-Walker malf... OMIM:236670
Stromme Syndrome
Hydrocephalus, Stillbirth OMIM:243605
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Lateral ventricle dilatation ORPHA:300570
Aromatase Deficiency
Female infertility, Male infertility, Hyperlipidemia, Primary amenorrhea, Hypergonadotropic hypog... ORPHA:91
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Jacobsen Syndrome
Recurrent respiratory infections, Holoprosencephaly, Hydrocephalus OMIM:147791
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ventriculomegaly, Hydrocephalus ORPHA:395
Cardiofaciocutaneous Syndrome 1
Hydrocephalus OMIM:115150
Beare-Stevenson Cutis Gyrata Syndrome
Ventriculomegaly, Hydrocephalus OMIM:123790
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Ventriculomegaly, Hydrocephalus OMIM:613603
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Pleural effusion, Hydrocephalus OMIM:261740
Glutaryl-Coa Dehydrogenase Deficiency
Ventriculomegaly, Communicating hydrocephalus, Subependymal nodules ORPHA:25
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Meckel Syndrome, Type 1
Ventriculomegaly, Occipital encephalocele, Dilated fourth ventricle, Large placenta, Hydrocephalu... OMIM:249000
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Capillary Malformation-Arteriovenous Malformation
Chylothorax, Hydrocephalus ORPHA:137667
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus OMIM:616007
Cerebrooculonasal Syndrome
Hydrocephalus, Ventriculomegaly, Encephalocele, Dandy-Walker malformation OMIM:605627
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... OMIM:610828
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:314585
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus, Umbilical hernia OMIM:182212
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus, Umbilical hernia OMIM:104350
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Hydrocephalus