Gene Summary

coiled-coil domain containing 40

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 6.27×10-05
male infertility Ccdc40em1(IMPC)J HOM Early adult 0.00

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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.


XRay Images Forepaw

10 Images

Electrocardiogram (ECG)

Waveform Image

16 Images


XRay Images Skull Dorso Ventral Orientation

10 Images

Combined SHIRPA and Dysmorphology


3 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Skull Lateral Orientation

10 Images

Auditory Brain Stem Response

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

8 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
Matching phenotypes Source
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
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, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Laterality Defects, Autosomal Dominant
Heterotaxy, Situs inversus totalis OMIM:601086
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619528
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Spermatogenic Failure 63
Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Oligospermia ORPHA:1646
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Chronic bronchitis, Abnormal axonemal organization of respiratory motile cil... OMIM:613807
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Oligospermia, Abnormal sperm head morphology, Male inf... OMIM:618433
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Bronchiectasis, Abdominal situs inversus, Recurrent... OMIM:618699
Hydrocephalus, Situs inversus totalis, Abnormality of the pulmonary artery, Abnormal pulmonary si... ORPHA:1666
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Increased CSF protein, Hydrocephalus ORPHA:251912
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Abnormal lung lobation, Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Hydrocephalus OMIM:123155
Immunodeficiency 69
Pancytopenia, Increased circulating ferritin concentration, Leukocytosis, Hepatosplenomegaly, Thr... OMIM:618963
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Ciliary Dyskinesia, Primary, 40
Azoospermia, Left Isomerism, Absent outer dynein arms, Situs inversus totalis OMIM:618300
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus, Isomerism OMIM:314390
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Holoprosencephaly OMIM:617967
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Renpenning Syndrome
Heterotaxy ORPHA:3242
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Band Heterotopia
Ventriculomegaly, Hydrocephalus OMIM:600348
Primary Ciliary Dyskinesia
Respiratory tract infection, Situs inversus totalis, Bronchiectasis, Ventriculomegaly, Pulmonary ... ORPHA:244
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Male infertility OMIM:618948
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Lobar holoprosencephaly, Syntelencephaly, Hydroce... OMIM:609637
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Hydrocephalus OMIM:148800
Developmental And Epileptic Encephalopathy 49
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus OMIM:617281
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Heterotaxy, Anomalous pulmonary venous return ORPHA:1330
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia, Male infertility, Hypomagnesemia ORPHA:2239
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Situs inversus totalis, Spinal dysraphism, Pulmonary artery atresia, Hydrocephalus, ... ORPHA:1908
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Hydrocephalus With Associated Malformations
Pulmonary hypoplasia, Hydrocephalus OMIM:236640
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus OMIM:613154
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Double Outlet Right Ventricle
Heterotaxy, Pulmonary artery atresia ORPHA:3426
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Heterotaxy, Situs inversus ... OMIM:616749
Frontal Encephalocele
Spina bifida, Encephalocele, Hydrocephalus ORPHA:1931
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Ventriculomegaly, Hydrocephalus ORPHA:324416
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Myelomeningocele, Hydrocephalus OMIM:182940
Fried Syndrome
Hydrocephalus ORPHA:85335
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... OMIM:300908
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Pallister-Hall-Like Syndrome
Occipital encephalocele, Pulmonary hypoplasia, Hydrocephalus OMIM:241800
Pettigrew Syndrome
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus OMIM:304340
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Male infertility, Obstructive azoospermia ORPHA:48
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Hydrolethalus Syndrome 2
Anencephaly, Ventriculomegaly, Hydrocephalus OMIM:614120
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent bronchi... OMIM:244400
Congenital Hydrocephalus
Colpocephaly, Ventriculomegaly, Hydrocephalus ORPHA:2185
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Thanatophoric Dysplasia Type 2
Aplasia/Hypoplasia of the lungs, Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Encephalocele ORPHA:93274
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs, Hydrocephalus ORPHA:2635
Hydrocephalus OMIM:100800
Familial Male-Limited Precocious Puberty
Oligospermia, Male infertility ORPHA:3000
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Umbilical hernia, Hydrocephalus ORPHA:1516
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Spina bifida occulta, Myelomeningocele, Hydrocephalus OMIM:183802
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Arrhinencephaly ORPHA:1528
Papillary Tumor Of The Pineal Region
Increased CSF protein, Hydrocephalus ORPHA:251915
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Ventriculomegaly, Hydrocephalus OMIM:610333
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia OMIM:619281
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Hydrocephalus OMIM:300864
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N... OMIM:608203
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus ORPHA:2183
Thanatophoric Dysplasia
Ventriculomegaly, Pulmonary hypoplasia, Hydrocephalus ORPHA:2655
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Anterior encephalocele, Hydrocephalus OMIM:614195
Diets-Jongmans Syndrome
Umbilical hernia, Heterotaxy OMIM:618846
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Hydranencephaly, Ventriculomegaly, Hydrocephalus OMIM:225790
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Melanosis, Neurocutaneous
Dandy-Walker malformation, Choroid plexus papilloma, Hydrocephalus OMIM:249400
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility OMIM:617091
Joubert Syndrome
Encephalocele, Situs inversus totalis, Hydrocephalus ORPHA:475
Hydrocephalus, Congenital Communicating, 1
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus OMIM:602501
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Hydrocephalus ORPHA:380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus OMIM:613153
Congenital Toxoplasmosis
Ventriculomegaly, Hydrocephalus ORPHA:858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Anencephaly, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus OMIM:615287
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Stillbirth, Hydrocephalus OMIM:276950
Temple Syndrome
Hydrocephalus OMIM:616222
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Dandy-Walker Malformation With Postaxial Polydactyly
Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus OMIM:220220
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Acute myeloid leukemia, Abnormal mean c... ORPHA:86839
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus ORPHA:163961
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Aqueductal stenosis, Hydrocephalus ORPHA:2182
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Ventriculomegaly, Hydrocephalus OMIM:175700
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Ring Chromosome Y Syndrome
Azoospermia, Abnormal spermatogenesis, Male hypogonadism, Male infertility, Female infertility, S... ORPHA:261529
Central Precocious Puberty
Hydrocephalus ORPHA:759
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Krabbe Disease
Increased CSF protein, Hydrocephalus OMIM:245200
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hydrocephalus OMIM:618577
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Hydrocephalus ORPHA:272
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Muscle-Eye-Brain Disease
Holoprosencephaly, Meningocele, Hydrocephalus ORPHA:588
Classic Galactosemia
Decreased fertility in females, Primary amenorrhea, Secondary amenorrhea, Male infertility, Prema... ORPHA:79239
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Chronic bronchitis, Abnormal axonemal organization of respiratory motile cil... OMIM:613808
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus OMIM:600991
Ciliary Dyskinesia, Primary, 18
Immotile sperm, Male infertility OMIM:614874
Meckel Syndrome, Type 6
Occipital encephalocele, Anencephaly, Hydrocephalus, Pulmonary hypoplasia, Bilobed right lung OMIM:612284
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Umbilical hernia, Hydrocephalus ORPHA:2181
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Isomerism, Partial anomalous pulmonary venous return, Anomalous pulmonary venous return OMIM:619657
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Mental Retardation, Buenos Aires Type
Hydrocephalus OMIM:249630
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Hydrocephalus ORPHA:171839
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus OMIM:613776
Nasu-Hakola Disease
Ventriculomegaly, Hydrocephalus ORPHA:2770
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus OMIM:307000
Hereditary Chronic Pancreatitis
Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:676
Diabetic Embryopathy
Spinal dysraphism, Abnormality of the pulmonary artery, Hydrocephalus ORPHA:1926
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida, Hydrocephalus, Spina bifida occulta, Pulmonary hypoplasia ORPHA:2437
Chiari Malformation Type Ii
Myelomeningocele, Spina bifida, Cervical myelopathy, Hydrocephalus OMIM:207950
Ventriculomegaly With Defects Of The Radius And Kidney
Dilation of lateral ventricles, Ventriculomegaly, Hydrocephalus OMIM:602200
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Mend Syndrome
Dandy-Walker malformation, Hydrocephalus OMIM:300960
Thanatophoric Dysplasia, Type I
Neonatal death, Hydrocephalus OMIM:187600
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus OMIM:613603
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Joubert Syndrome 14
Dandy-Walker malformation, Encephalocele, Hydrocephalus OMIM:614424
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Bresek Syndrome
Neonatal death, Hydrocephalus ORPHA:85284
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Meckel Syndrome, Type 4
Anencephaly, Dandy-Walker malformation, Hydrocephalus, Meningocele, Encephalocele OMIM:611134
Temple Syndrome
Hydrocephalus ORPHA:254516
Coach Syndrome 2
Hydrocephalus OMIM:619111
Nephronophthisis 18
Hydrocephalus OMIM:615862
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Anomalous pulmonary venous return ORPHA:2184
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Pneumonia, Ventriculomegaly, Hydrocephalus, Aqueductal stenosis, Meningocele ORPHA:1136
Meckel Syndrome, Type 3
Occipital encephalocele, Dandy-Walker malformation, Hydrocephalus OMIM:607361
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Thanatophoric Dysplasia Type 1
Ventriculomegaly, Aplasia/Hypoplasia of the lungs, Hydrocephalus ORPHA:1860
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Hydrocephalus OMIM:218350
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hydrocephalus OMIM:109120
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Intellectual Developmental Disorder, Autosomal Dominant 35
Ventriculomegaly, Hydrocephalus OMIM:616355
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Ventriculomegaly, Dilated fourth ventricle, Hydrocephalus ORPHA:370959
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:615630
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Aase-Smith Syndrome I
Dandy-Walker malformation, Hydrocephalus OMIM:147800
Fanconi Anemia, Complementation Group B
Abnormal lung lobation, Ventriculomegaly, Hydrocephalus OMIM:300514
Crouzon Syndrome
Hydrocephalus ORPHA:207
Tetraamelia-Multiple Malformations Syndrome
Abnormal lung lobation, Aplasia/Hypoplasia of the lungs, Hydrocephalus ORPHA:3301
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus OMIM:220219
3C Syndrome
Dandy-Walker malformation, Recurrent respiratory infections, Ventriculomegaly, Hydrocephalus ORPHA:7
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Hydrocephalus OMIM:609757
Axial Mesodermal Dysplasia Spectrum
Aplasia/Hypoplasia of the lungs, Hydrocephalus ORPHA:1834
Intellectual Developmental Disorder, Autosomal Dominant 36
Ventriculomegaly, Hydrocephalus OMIM:616362
Pentalogy Of Cantrell
Anencephaly, Encephalocele, Pulmonary hypoplasia, Hydrocephalus ORPHA:1335
Emanuel Syndrome
Dandy-Walker malformation, Recurrent respiratory infections, Ventriculomegaly, Hydrocephalus ORPHA:96170
Ritscher-Schinzel Syndrome 1
Dandy-Walker malformation, Hydrocephalus OMIM:220210
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Hydrocephalus, Anencephaly, Arrhinencephaly ORPHA:2189
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Holoprosencephaly, Meningocele, Hydrocephalus ORPHA:3376
Thoracoabdominal Syndrome
Anencephaly, Pulmonary hypoplasia, Hydrocephalus OMIM:313850
Tetrasomy 5P
Recurrent respiratory infections, Pulmonary hypoplasia, Hydrocephalus ORPHA:3309
Plasminogen Deficiency, Type I
Dandy-Walker malformation, Recurrent upper respiratory tract infections, Hydrocephalus OMIM:217090
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Hydrocephalus ORPHA:252054
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Proteus-Like Syndrome
Bronchogenic cyst, Communicating hydrocephalus, Hydrocephalus ORPHA:2969
Peho Syndrome
Recurrent respiratory infections, Ventriculomegaly, Hydrocephalus ORPHA:2836
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Congenital Sialidosis Type 2
Umbilical hernia, Respiratory tract infection, Hydrocephalus ORPHA:93400
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Gorlin Syndrome
Hydrocephalus ORPHA:377
Fanconi Anemia, Complementation Group A
Pancytopenia, Leukemia, Neutropenia, Anemia, Male infertility, Reticulocytopenia, Hypergonadotrop... OMIM:227650
Congenital Disorder Of Glycosylation, Type Iil
Ventriculomegaly, Hydrocephalus OMIM:614576
Hereditary Amyloidosis With Primary Renal Involvement
Hepatosplenomegaly, Elevated circulating creatinine concentration, Decreased circulating apolipop... ORPHA:85450
Hydrocephalus ORPHA:137817
Myopathy, Centronuclear, X-Linked
Hydrocephalus OMIM:310400
Griscelli Syndrome
Encephalocele, Hydrocephalus ORPHA:381
Tenorio Syndrome
Pneumonia, Ventriculomegaly, Hydrocephalus OMIM:616260
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Hydrocephalus OMIM:618476
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:60040
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus ORPHA:1647
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Dandy-Walker malformation, Umbilical hernia, Hydrocephalus OMIM:612938
Adams-Oliver Syndrome
Pulmonary artery atresia, Encephalocele, Hydrocephalus ORPHA:974
Muenke Syndrome
Hydrocephalus ORPHA:53271
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Icf Syndrome
Communicating hydrocephalus, Recurrent respiratory infections, Umbilical hernia ORPHA:2268
Vacterl With Hydrocephalus
Spina bifida, Hydrocephalus, Aqueductal stenosis, Pulmonary hypoplasia, Arrhinencephaly ORPHA:3412
Congenital Total Pulmonary Venous Return Anomaly
Supracardiac total anomalous pulmonary venous connection, Heterotaxy, Mixed total anomalous pulmo... ORPHA:99125
Mucopolysaccharidosis, Type Vii
Umbilical hernia, Recurrent upper respiratory tract infections, Chronic bronchitis, Hydrocephalus OMIM:253220
Dandy-Walker malformation, Hydrocephalus ORPHA:79332
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Umbilical hernia, Recurrent upper respiratory tract infections, Hydrocephalus OMIM:253200
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Pulmonary hypoplasia, Hydrocephalus OMIM:616546
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Hydrocephalus ORPHA:2169
Meckel Syndrome
Lobar holoprosencephaly, Anencephaly, Situs inversus totalis, Dandy-Walker malformation, Hydrocep... ORPHA:564
Chromosome 6Pter-P24 Deletion Syndrome
Dandy-Walker malformation, Umbilical hernia, Hydrocephalus OMIM:612582
Distal Tetrasomy 15Q
Dandy-Walker malformation, Pulmonary hypoplasia, Hydrocephalus ORPHA:314588
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Ventriculomegaly OMIM:615219
Multiple Sulfatase Deficiency
Increased CSF protein, Ventriculomegaly, Hydrocephalus OMIM:272200
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Hydrocephalus OMIM:617822
Trisomy 1Q
Ventriculomegaly, Hydrocephalus ORPHA:261344
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus OMIM:616482
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia ORPHA:90065
1Q44 Microdeletion Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:238769
Raine Syndrome
Neonatal death, Pulmonary hypoplasia, Hydrocephalus OMIM:259775
Short-Rib Thoracic Dysplasia 12
Anencephaly, Hydrocephalus, Neonatal death, Holoprosencephaly, Pulmonary hypoplasia OMIM:269860
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Choroid plexus cyst, Hydrocephalus OMIM:617866
Whipple Disease
Pleuritis, Hydrocephalus ORPHA:3452
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Pulmonary hypoplasia, Hydrocephalus ORPHA:1865
Mucopolysaccharidosis, Type Ii
Umbilical hernia, Recurrent pneumonia, Hydrocephalus OMIM:309900
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus OMIM:603387
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Hydrocephalus OMIM:219730
47,Xyy Syndrome
Azoospermia, Oligospermia, Hydrocephalus ORPHA:8
Encephalocraniocutaneous Lipomatosis
Dandy-Walker malformation, Peripheral pulmonary artery stenosis, Hydrocephalus OMIM:613001
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus OMIM:614886
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:459061
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus ORPHA:2318
Heterotaxy, Visceral, 1, X-Linked
Right atrial isomerism, Bilateral trilobed lungs, Myelomeningocele, Total anomalous pulmonary ven... OMIM:306955
Walker-Warburg Syndrome
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus ORPHA:899
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus ORPHA:220497
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Hydrocephalus, Ventriculomegaly, Anomalous pulmonary venous return ORPHA:35107
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Hydrocephalus ORPHA:77298
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Pelvis-Shoulder Dysplasia
Spina bifida, Hydranencephaly, Hydrocephalus ORPHA:2839
Lowry-Maclean Syndrome
Hydrocephalus ORPHA:2409
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemia, Irregular menstruation, Primary amenorrhea, Male hypogonadism, Male infertility, Dec... ORPHA:90793
Chromosome 6Q24-Q25 Deletion Syndrome
Dilation of lateral ventricles, Hydrocephalus OMIM:612863
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus OMIM:273730
Ventriculomegaly, Hydrocephalus ORPHA:59315
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
Axenfeld-Rieger Syndrome, Type 2
Umbilical hernia, Hydrocephalus OMIM:601499
Otopalatodigital Syndrome Type 2
Myelomeningocele, Encephalocele, Pulmonary hypoplasia, Hydrocephalus ORPHA:90652
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
16P13.2 Microdeletion Syndrome
Dilated third ventricle, Ventriculomegaly, Hydrocephalus ORPHA:500055
Fg Syndrome Type 1
Umbilical hernia, Ventriculomegaly, Hydrocephalus ORPHA:93932
Holoprosencephaly-Postaxial Polydactyly Syndrome
Umbilical hernia, Hydrocephalus, Abnormal lung lobation, Holoprosencephaly, Encephalocele ORPHA:2166
Osteopetrosis, Autosomal Recessive 5
Ventriculomegaly, Stillbirth, Hydrocephalus OMIM:259720
Myelomeningocele, Anencephaly, Dandy-Walker malformation, Spinal dysraphism, Spina bifida, Hydroc... ORPHA:63259
Joubert Syndrome With Ocular Defect
Encephalocele, Hydrocephalus ORPHA:220493
H Syndrome
Hydrocephalus, Recurrent pharyngitis, Azoospermia, Bronchiectasis ORPHA:168569
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Peripheral pulmonary artery stenosis, Recurrent respiratory infections, ... OMIM:619575
Androgen Insensitivity Syndrome
Male infertility ORPHA:754
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Arachnoid Cyst
Enlarged fossa interpeduncularis, Holoprosencephaly, Encephalocele, Hydrocephalus ORPHA:2356
Hurler Syndrome
Recurrent respiratory infections, Umbilical hernia, Hydrocephalus OMIM:607014
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus OMIM:224400
Holoprosencephaly, Ventriculomegaly, Hydrocephalus OMIM:612651
Mirage Syndrome
Aspiration pneumonia, Hydrocephalus OMIM:617053
Ventriculomegaly, Total anomalous pulmonary venous return, Hydrocephalus OMIM:602398
Aplasia/Hypoplasia of the lungs, Dandy-Walker malformation, Spinal dysraphism, Hydrocephalus, Bra... ORPHA:2162
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Ventriculomegaly, Hydrocephalus OMIM:616538
Pseudotrisomy 13 Syndrome
Holoprosencephaly, Encephalocele, Hydrocephalus OMIM:264480
Neoplasm of the lung, Hydrocephalus ORPHA:616
Functioning Gonadotropic Adenoma
Oligospermia, Hydrocephalus ORPHA:91348
Abnormal sperm morphology, Increased CSF protein, Pneumonia, Exudative pleural effusion, Hypoglyc... ORPHA:228123
Heterotaxy, Visceral, 12, Autosomal
Abdominal situs ambiguus, Partial anomalous pulmonary venous return, Situs inversus totalis, Pulm... OMIM:619702
Joubert Syndrome 2
Enlarged fossa interpeduncularis, Encephalocele, Hydrocephalus OMIM:608091
Dural Sinus Malformation
Myelopathy, Hydrocephalus ORPHA:97339
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Dandy-Walker malformation, Ventriculomegaly, Encephalocele, Hydrocephalus OMIM:614643
Popov-Chang syndrome
Hydrocephalus OMIM:618428
Fanconi Anemia, Complementation Group L
Hydrocephalus OMIM:614083
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Hydrocephalus ORPHA:15
Marden-Walker Syndrome
Situs inversus totalis, Hydrocephalus ORPHA:2461
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:1812
Trisomy 17P
Hydrocephalus ORPHA:261290
Genitopalatocardiac Syndrome
Hydrocephalus ORPHA:2075
Aromatase Deficiency
Primary amenorrhea, Hyperlipidemia, Male infertility, Female infertility, Hypergonadotropic hypog... ORPHA:91
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Emphysema, Chylothorax, Pulmonary lymphangiomyomatosis, Recurrent respiratory infections, Pneumot... ORPHA:538
Hyperphosphatasia With Mental Retardation Syndrome 1
Hydrocephalus OMIM:239300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Holoprosencephaly, Encephalocele, Hydrocephalus OMIM:253800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Ventriculomegaly, Encephalocele, Hydrocephalus OMIM:613150
Mucopolysaccharidosis Type 1
Recurrent respiratory infections, Hydrocephalus ORPHA:579
Mucopolysaccharidosis Type 3
Ventriculomegaly, Respiratory tract infection, Recurrent sinopulmonary infections, Hydrocephalus,... ORPHA:581
Beare-Stevenson Cutis Gyrata Syndrome
Ventriculomegaly, Hydrocephalus OMIM:123790
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Umbilical hernia, Hydrocephalus ORPHA:1555
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Bloom Syndrome
Azoospermia, Acute myeloid leukemia, Abnormal proportion of CD8-positive T cells, Oligospermia, M... ORPHA:125
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Osteopetrosis, Autosomal Recessive 7
Recurrent pneumonia, Dilation of lateral ventricles, Hydrocephalus OMIM:612301
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, Small placenta, Hydrocephalus, Stillbirth, Pulmonary hypoplasia OMIM:208150
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Nodular pattern on pulmonary HRCT, Pneumonia, Pleural effusion, Hydrocephalus ORPHA:1546
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ventriculomegaly, Hydrocephalus ORPHA:395
Apert Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:87
Trisomy 8P
Recurrent upper respiratory tract infections, Peripheral pulmonary artery stenosis, Dandy-Walker ... ORPHA:264450
Marshall-Smith Syndrome
Recurrent upper respiratory tract infections, Ventriculomegaly, Hydrocephalus, Umbilical hernia, ... OMIM:602535
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hydrocephalus OMIM:616914
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Hydrocephalus ORPHA:2306
Hurler Syndrome
Recurrent respiratory infections, Hydrocephalus ORPHA:93473
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus ORPHA:1454
Jacobsen Syndrome
Recurrent respiratory infections, Holoprosencephaly, Hydrocephalus OMIM:147791
Cardiofaciocutaneous Syndrome 1
Hydrocephalus OMIM:115150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Meningoencep... OMIM:236670
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Dilation of lateral ventricles ORPHA:300570
Meckel Syndrome, Type 1
Occipital encephalocele, Anencephaly, Dandy-Walker malformation, Large placenta, Hydrocephalus, P... OMIM:249000
Otopalatodigital Syndrome, Type Ii
Stillbirth, Hydrocephalus OMIM:304120
Complete Androgen Insensitivity Syndrome
Primary amenorrhea, Male infertility ORPHA:99429
Stromme Syndrome
Stillbirth, Hydrocephalus OMIM:243605
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Umbilical hernia, Hydrocephalus OMIM:104350
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Subependymal nodules, Ventriculomegaly ORPHA:25
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Hydrocephalus ORPHA:505248
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus OMIM:101800
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Repeated pneumothoraces, Pulmonary hypoplasia, Hydrocephalus ORPHA:536467
Partial Androgen Insensitivity Syndrome
Azoospermia, Male sexual dysfunction, Primary amenorrhea, Male infertility ORPHA:90797
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
7Q11.23 Microduplication Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:96121
15Q Overgrowth Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:314585
Capillary Malformation-Arteriovenous Malformation
Chylothorax, Hydrocephalus ORPHA:137667
Monosomy 9Q22.3
Umbilical hernia, Ventriculomegaly, Hydrocephalus ORPHA:77301
Shprintzen-Goldberg Craniosynostosis Syndrome
Umbilical hernia, Hydrocephalus OMIM:182212
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Ventriculomegaly, Hydrocephalus ORPHA:228308
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
Alexander Disease
Aqueductal stenosis, Hydrocephalus ORPHA:58
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Cerebrooculonasal Syndrome
Encephalocele, Hydrocephalus OMIM:605627
Holoprosencephaly 7
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus OMIM:610828
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia, Hydrocephalus OMIM:273395
Smith-Lemli-Opitz Syndrome
Dandy-Walker malformation, Hydrocephalus, Abnormal lung lobation, Holoprosencephaly, Pulmonary hy... OMIM:270400
Mohr Syndrome
Hydrocephalus OMIM:252100
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus OMIM:154400
Posterior Meningocele
Occipital meningocele, Lipomyelomeningocele, Neural tube defect, Hydrocephalus, Meningocele ORPHA:268810
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Opitz-Kaveggia Syndrome
Umbilical hernia, Hydrocephalus OMIM:305450
Hydrolethalus Syndrome 1
Severe hydrocephalus, Anencephaly, Dandy-Walker malformation, Abnormal lung lobation, Stillbirth,... OMIM:236680
Cardiofaciocutaneous Syndrome
Hydrocephalus ORPHA:1340
Mosaic Variegated Aneuploidy Syndrome 1
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus OMIM:257300
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus ORPHA:157
Monosomy 18Q
Hydrocephalus ORPHA:1600
22Q11.2 Deletion Syndrome
Occipital myelomeningocele, Spina bifida, Hydrocephalus, Abnormal lung lobation, Umbilical hernia... ORPHA:567
Apert Syndrome
Ventriculomegaly, Hydrocephalus OMIM:101200
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Azoospermia, Ventriculomegaly, Pulmonary fibrosis, Hydrocephalus, Abnormal pulmonary interstitial... ORPHA:2072
Hajdu-Cheney Syndrome
Recurrent respiratory infections, Umbilical hernia, Hydrocephalus ORPHA:955
Dubowitz Syndrome
Spina bifida occulta, Hydrocephalus ORPHA:235
Basal Cell Nevus Syndrome
Spina bifida, Hydrocephalus OMIM:109400
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Hydrocephalus OMIM:619512
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Aymé-Gripp Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:1272
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Fontaine Progeroid Syndrome
Pneumothorax, Hydrocephalus, Neonatal death, Umbilical hernia, Recurrent aspiration pneumonia, Pu... OMIM:612289
Campomelic Dysplasia
Recurrent upper respiratory tract infections, Spinal dysraphism, Spina bifida, Hydrocephalus, Rec... OMIM:114290
Osteopathia Striata With Cranial Sclerosis
Spina bifida occulta, Hydrocephalus OMIM:300373
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus ORPHA:1571
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Gaucher Disease
Ventriculomegaly, Pulmonary fibrosis, Abnormal pulmonary interstitial morphology, Hydrocephalus ORPHA:355
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Stillbirth, Hydrocephalus ORPHA:95699
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent respiratory infections, Spina bifida, Ventriculomegaly, Hydrocephalus ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent respiratory infections, Spina bifida, Ventriculomegaly, Hydrocephalus ORPHA:363958
Histiocytoid Cardiomyopathy
Hydrocephalus, Pulmonary edema ORPHA:137675
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Umbilical hernia, Ventriculomegaly ORPHA:2462
Osteogenesis Imperfecta
Ventriculomegaly, Hydrocephalus, Noncommunicating hydrocephalus, Umbilical hernia, Pulmonary hypo... ORPHA:666
1Q21.1 Microdeletion Syndrome
Hydrocephalus ORPHA:250989
Thakker-Donnai Syndrome
Communicating hydrocephalus ORPHA:1780
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Ventriculomegaly, Hydrocephalus OMIM:617011
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus ORPHA:79282
Biliary, Renal, Neurologic, And Skeletal Syndrome
Neonatal death, Pulmonary artery dilatation, Situs inversus totalis, Recurrent respiratory infect... OMIM:619534
Orofaciodigital Syndrome I
Myelomeningocele, Hydrocephalus OMIM:311200
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Umbilical hernia, Pneumonia ORPHA:309282
Fanconi Anemia
Azoospermia, Ventriculomegaly, Spina bifida, Hydrocephalus, Umbilical hernia ORPHA:84
Hajdu-Cheney Syndrome
Umbilical hernia, Hydrocephalus OMIM:102500
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Hydrocephalus OMIM:309801
Autosomal Recessive Malignant Osteopetrosis
Recurrent respiratory infections, Pulmonary artery stenosis, Hydrocephalus ORPHA:667
Limb Body Wall Complex
Short umbilical cord, Myelomeningocele, Anencephaly, Spina bifida, Hydrocephalus, Spina bifida oc... ORPHA:2369
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus OMIM:162200
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:457284
Fraser Syndrome 1
Myelomeningocele, Encephalocele, Pulmonary hypoplasia, Hydrocephalus OMIM:219000
Cystinosis, Nephropathic
Hypokalemia, Hyponatremia, Hypophosphatemic rickets, Splenomegaly, Decreased plasma carnitine, Ma... OMIM:219800
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia ORPHA:168577
Fanconi Anemia, Complementation Group D2
Hydrocephalus OMIM:227646
Mycophenolate Mofetil Embryopathy
Hydrocephalus ORPHA:268249
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus OMIM:616084
Hydrocephalus ORPHA:54595
Kabuki Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:2322
Neurofibromatosis Type 2
Myelopathy, Hydrocephalus ORPHA:637
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus ORPHA:163979
Semilobar Holoprosencephaly
Neural tube defect, Aspiration pneumonia, Hydrocephalus ORPHA:220386
Alobar Holoprosencephaly
Neural tube defect, Aspiration pneumonia, Hydrocephalus ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Aspiration pneumonia, Hydrocephalus ORPHA:93926