Gene Summary

Name:
cilia and flagella associated protein 57
Synonyms:
Wdr65,  1110020C03Rik,  LOC384050,  C130004B06Rik

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
decreased exploration in new environment Cfap57em1(IMPC)Mbp HOM   Early adult 4.72×10-06
abnormal spinal cord morphology Cfap57em1(IMPC)Mbp HOM Early adult 0.00
abnormal brain morphology Cfap57em1(IMPC)Mbp HOM Early adult 0.00
abnormal skeletal muscle morphology Cfap57em1(IMPC)Mbp HOM Early adult 0.00
hydrocephaly Cfap57em1(IMPC)Mbp HOM Early adult 0.00
male infertility Cfap57em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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.

Phenotype associated images not available

Human diseases caused by Cfap57 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cfap57 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Craniofacial Conodysplasia
Hydrocephalus, Spinal cord compression ORPHA:85168
Pineocytoma
Cognitive impairment, Hydrocephalus, Memory impairment, Increased CSF protein ORPHA:251912
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Cognitive impairment, Hydrocephalus ORPHA:2807
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Atypical Teratoid Rhabdoid Tumor
Apathy, Irritability, Hydrocephalus ORPHA:99966
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Alexander Disease
Hydrocephalus, Increased CSF protein OMIM:203450
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus, Memory impairment ORPHA:1008
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619528
Fried Syndrome
Aggressive behavior, Hydrocephalus, Skeletal muscle atrophy ORPHA:85335
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia ORPHA:1646
Melanosis, Neurocutaneous
Dandy-Walker malformation, Choroid plexus papilloma, Syringomyelia, Hydrocephalus, Mental deterio... OMIM:249400
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Flexion contracture OMIM:300884
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Hydrocephalus OMIM:123155
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Ventriculomegaly, Muscular dystrophy, Hydrocephalus, Flexion contracture OMIM:613154
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Band Heterotopia
Hydrocephalus, Ventriculomegaly OMIM:600348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Muscular dystrophy, Hydrocephalus, Ventriculomegaly OMIM:614830
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hand muscle weakness, Triceps weakness, Abnormality of the spinal cord, Quadriceps muscle weaknes... ORPHA:99947
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Hydrocephalus, Congenital, 3, With Brain Anomalies
Dandy-Walker malformation, Hydranencephaly, Holoprosencephaly, Ventriculomegaly, Hydrocephalus OMIM:617967
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Pettigrew Syndrome
Dandy-Walker malformation, Self-injurious behavior, Ventriculomegaly, Hydrocephalus, Flexion cont... OMIM:304340
Papillary Tumor Of The Pineal Region
Cognitive impairment, Hydrocephalus, Memory impairment, Increased CSF protein ORPHA:251915
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Hydrocephalus, Elbow flexion contracture OMIM:619470
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Anxiety, Hydrocephalus ORPHA:261102
Gómez-López-Hernández Syndrome
Cognitive impairment, Hydrocephalus ORPHA:1532
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Holoprosencephaly 5
Lobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Hydrocephalus, Alobar holoprosenceph... OMIM:609637
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
1Q21.1 Microduplication Syndrome
Hydrocephalus, Arthrogryposis multiplex congenita ORPHA:250994
Developmental And Epileptic Encephalopathy 49
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly OMIM:617281
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Congenital muscular dystrophy, Hydrocephalus, Ventriculomegaly ORPHA:324416
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Abnormality of the diaphragm OMIM:183802
Muscle-Eye-Brain Disease
Meningocele, Myopathy, Holoprosencephaly, Cognitive impairment, Hydrocephalus ORPHA:588
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Kleeblattschaedel
Hydrocephalus OMIM:148800
Congenital Muscular Dystrophy, Fukuyama Type
Myopathy, Ventriculomegaly, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Hydrocep... ORPHA:272
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Spinocerebellar Ataxia Type 32
Testicular atrophy, Cognitive impairment, Male infertility, Azoospermia ORPHA:276183
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Hydrocephalus ORPHA:141333
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Chiari Malformation Type Ii
Myelomeningocele, Limb muscle weakness, Syringomyelia, Cervical myelopathy, Spina bifida, Hydroce... OMIM:207950
Keratoderma Hereditarium Mutilans
Self-injurious behavior, Hypogonadotropic hypogonadism, Cognitive impairment, Abnormality of the ... ORPHA:494
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Anencephaly, Myelomeningocele OMIM:182940
Hemangioblastoma
Upper limb muscle weakness, Hydrocephalus, Lower limb muscle weakness, Spinal hemangioblastoma ORPHA:252054
Nasu-Hakola Disease
Frontal lobe dementia, Ventriculomegaly, Irritability, Hydrocephalus, Memory impairment ORPHA:2770
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Ventriculomegaly, Left ventricular hypertrophy, Muscular dystrophy, Hy... OMIM:613153
Congenital Hydrocephalus
Colpocephaly, Hydrocephalus, Ventriculomegaly ORPHA:2185
Congenital Toxoplasmosis
Cognitive impairment, Hydrocephalus, Ventriculomegaly ORPHA:858
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Hypergonadotropic hypogonadism, Azoospermia ORPHA:2183
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Muscular dystrophy, Cognitive impairment, Hydrocephalus OMIM:615181
Achondroplasia
Hydrocephalus OMIM:100800
Arnold-Chiari Malformation Type Ii
Meningocele, Myelomeningocele, Syringomyelia, Ventriculomegaly, Emotional lability, Hydrocephalus... ORPHA:1136
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hydrocephalus OMIM:300558
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Joint contracture of the hand, Ventriculomegaly, Hydrocephalus,... OMIM:175700
Mental Retardation, Autosomal Dominant 35
Facial hypotonia, Congenital muscular torticollis, Hydrocephalus, Ventriculomegaly OMIM:616355
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Hydrocephalus ORPHA:380
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Hydranencephaly, Ventriculomegaly, Hydrocephalus, Flexion contracture OMIM:225790
Krabbe Disease
Motor deterioration, Hydrocephalus, Increased CSF protein OMIM:245200
Temple Syndrome
Hydrocephalus, Flexion contracture OMIM:616222
Hydrocephalus, Normal-Pressure, 1
Dementia, Normal pressure hydrocephalus OMIM:236690
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly OMIM:610333
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Hydrocephalus OMIM:300864
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Congenital Muscular Dystrophy With Cerebellar Involvement
Skeletal muscle hypertrophy, Dilated fourth ventricle, Macroglossia, Reduced muscle fiber alpha d... ORPHA:370959
Arachnoid Cyst
Holoprosencephaly, Facial palsy, Social and occupational deterioration, Spinal cord compression, ... ORPHA:2356
Craniofacial Dyssynostosis
Hydrocephalus ORPHA:1516
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Anencephaly, Ventriculomegaly, Muscular dystrophy, Hydrocephalus OMIM:615287
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormality of the spinal cord, Distal amyotrophy ORPHA:139578
Amelocerebrohypohidrotic Syndrome
Mental deterioration, Dementia, Hydrocephalus ORPHA:1946
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus ORPHA:352682
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
L1 Syndrome
Hydrocephalus, Skeletal muscle atrophy, Aqueductal stenosis ORPHA:275543
Chromosome 17P13.1 Deletion Syndrome
Knee flexion contracture, Hydrocephalus, Elbow flexion contracture OMIM:613776
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Cognitive impairment, Hydrocephalus, Ventriculomegaly ORPHA:93274
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Craniotelencephalic Dysplasia
Arrhinencephaly, Hydrocephalus ORPHA:1528
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycorrhachia, Cognitive impairment, Progressive neurologic deterioration, Left ventricular ... ORPHA:90065
Classic Galactosemia
Secondary amenorrhea, Oligomenorrhea, Male infertility, Primary amenorrhea, Premature ovarian ins... ORPHA:79239
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Dandy-Walker Malformation With Postaxial Polydactyly
Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus OMIM:220220
Lissencephaly 5
Hydrocephalus OMIM:615191
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly ORPHA:163961
Mental Retardation, Autosomal Dominant 36
Facial hypotonia, Hydrocephalus, Ventriculomegaly OMIM:616362
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Flexion contracture of thumb, Hydrocephalus, Aqueductal stenosis OMIM:307000
Metatropic Dysplasia
Hydrocephalus, Camptodactyly of finger ORPHA:2635
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Hydrocephalus OMIM:601794
Myopathy, Centronuclear, X-Linked
Facial palsy, Diaphragmatic eventration, Hydrocephalus, Flexion contracture OMIM:310400
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly OMIM:618577
Vitamin K Antagonist Embryofetopathy
Macroglossia, Hydrocephalus, Myelomeningocele ORPHA:1914
Central Precocious Puberty
Hydrocephalus ORPHA:759
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Cognitive impairment, Ventriculomegaly, Atrophy of the spinal cord, Hydrocephalus, Mental deterio... ORPHA:395
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus OMIM:600991
Adrenomyeloneuropathy
Male sexual dysfunction, Cognitive impairment, Abnormality of the spinal cord, Dorsal column dege... ORPHA:139399
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Hydrocephalus, Aqueductal stenosis ORPHA:2182
Familial Male-Limited Precocious Puberty
Oligospermia, Male infertility ORPHA:3000
Joubert Syndrome 14
Dandy-Walker malformation, Irritability, Hydrocephalus OMIM:614424
Czeizel-Losonci Syndrome
Myelomeningocele, Aplasia of the left hemidiaphragm, Spina bifida, Hydrocephalus, Posterolateral ... ORPHA:2437
Mental Retardation, Buenos Aires Type
Hydrocephalus OMIM:249630
Hydrocephalus, Congenital Communicating, 1
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Anencephaly, Holoprosencephaly, Hydrocephalus, Spinal dysraphism ORPHA:1908
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Absent extraocular muscles, Ventriculomegaly OMIM:109120
Aase-Smith Syndrome I
Dandy-Walker malformation, Hydrocephalus, Flexion contracture OMIM:147800
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
Iniencephaly
Dandy-Walker malformation, Anencephaly, Myelomeningocele, Holoprosencephaly, Congenital diaphragm... ORPHA:63259
Emanuel Syndrome
Dandy-Walker malformation, Infertility, Congenital diaphragmatic hernia, Ventriculomegaly, Hypogo... ORPHA:96170
Williams-Beuren Region Duplication Syndrome
Anxiety, Hydrocephalus, Ventriculomegaly OMIM:609757
Diabetic Embryopathy
Aplasia/Hypoplasia of the abdominal wall musculature, Spinal dysraphism, Hydrocephalus ORPHA:1926
Functioning Gonadotropic Adenoma
Oligospermia, Infertility, Amenorrhea, Abnormality of the menstrual cycle, Decreased female libid... ORPHA:91348
16P13.2 Microdeletion Syndrome
Dilated third ventricle, Skin-picking, Aggressive behavior, Ventriculomegaly, Hypogonadism, Hydro... ORPHA:500055
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Mental deterioration, Hydrocephalus, Ventriculomegaly OMIM:618476
Dural Sinus Malformation
Dementia, Myelopathy, Apathy, Hydrocephalus, Mental deterioration ORPHA:97339
Mend Syndrome
Dandy-Walker malformation, Hydrocephalus OMIM:300960
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus ORPHA:171839
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Hydrocephalus With Associated Malformations
Hydrocephalus OMIM:236640
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Pallister-Hall-Like Syndrome
Hydrocephalus OMIM:241800
Triploidy
Meningocele, Holoprosencephaly, Hydrocephalus, Macroglossia ORPHA:3376
Oxoglutaric Aciduria
Hydrocephalus, Skeletal muscle atrophy ORPHA:31
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus OMIM:613603
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Alkuraya-Kucinskas Syndrome
Camptodactyly, Hydrocephalus, Arthrogryposis multiplex congenita, Ventriculomegaly OMIM:617822
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Skeletal muscle atrophy, Knee flexion contracture OMIM:603387
47,Xyy Syndrome
Oligospermia, Hydrocephalus, Male infertility, Azoospermia ORPHA:8
Temple Syndrome
Hydrocephalus ORPHA:254516
Gorlin Syndrome
Hypogonadotropic hypogonadism, Hydrocephalus ORPHA:377
Ventriculomegaly With Defects Of The Radius And Kidney
Dilation of lateral ventricles, Hydrocephalus, Ventriculomegaly OMIM:602200
Coach Syndrome 2
Hydrocephalus OMIM:619111
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventriculomegaly OMIM:218350
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus OMIM:614195
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Dandy-Walker malformation, Anxiety, Hydrocephalus, Camptodactyly ORPHA:459061
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Congenital diaphragmatic hernia, Hydrocephalus, Ventriculomegaly ORPHA:1647
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Muscular dystrophy, Hydrocephalus, Flexion contracture OMIM:615249
Meckel Syndrome, Type 4
Dandy-Walker malformation, Meningocele, Hydrocephalus, Anencephaly OMIM:611134
Intellectual Developmental Disorder, Autosomal Dominant 65
Aggressive behavior, Facial hypotonia, Noncommunicating hydrocephalus OMIM:619320
Primary Ciliary Dyskinesia
Abnormal sperm motility, Ventriculomegaly, Female infertility, Hydrocephalus, Male infertility ORPHA:244
Ring Chromosome Y Syndrome
Streak ovary, Azoospermia, Female infertility, Male hypogonadism, Abnormal spermatogenesis, Male ... ORPHA:261529
Nephronophthisis 18
Hydrocephalus OMIM:615862
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Walker-Warburg Syndrome
Dandy-Walker malformation, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle... ORPHA:899
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Albers-Schönberg Osteopetrosis
Facial palsy, Hydrocephalus ORPHA:53
X-Linked Cerebral Adrenoleukodystrophy
Myelopathy, Hamstring contractures, Abnormality of the spinal cord, Male hypogonadism, Mental det... ORPHA:139396
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Skeletal muscle hypertrophy, Macroglossia, Ventriculomegaly, Muscular dystrophy, Hydrocephalus, I... OMIM:613150
Crouzon Disease
Hydrocephalus ORPHA:207
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Tenorio Syndrome
Macroglossia, Anxiety, Hydrocephalus, Ventriculomegaly OMIM:616260
Solitary Bone Cyst
Abnormality of the spinal cord, Muscular edema ORPHA:83468
Multiple Sulfatase Deficiency
Rapid neurologic deterioration, Hydrocephalus, Increased CSF protein, Ventriculomegaly OMIM:272200
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Acute Disseminated Encephalomyelitis
Aggressive behavior, Abnormality of the spinal cord, CSF lymphocytic pleiocytosis, Irritability, ... ORPHA:83597
Ritscher-Schinzel Syndrome 1
Dandy-Walker malformation, Hydrocephalus OMIM:220210
Mucopolysaccharidosis, Type Ii
Macroglossia, Hydrocephalus, Flexion contracture, Cervical cord compression OMIM:309900
Medulloblastoma
Spinal cord tumor, Cognitive impairment, Irritability, Hydrocephalus ORPHA:616
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Lower limb hypertonia, Ventriculomegaly ORPHA:2169
Superficial Siderosis
Dementia, Abnormality of the cerebrospinal fluid, Cognitive impairment, Abnormality of the spinal... ORPHA:247245
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Dandy-Walker malformation, Macroglossia, Hydrocephalus OMIM:612938
Distal Tetrasomy 15Q
Dandy-Walker malformation, Syringomyelia, Hydrocephalus, Flexion contracture, Camptodactyly ORPHA:314588
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis OMIM:276950
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Ventriculomegaly OMIM:614576
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus OMIM:220219
Peho Syndrome
Hydrocephalus, Arthrogryposis multiplex congenita, Flexion contracture, Ventriculomegaly ORPHA:2836
Bresek Syndrome
Hydrocephalus ORPHA:85284
Ciliary Dyskinesia, Primary, 14
Male infertility, Immotile sperm, Reduced sperm motility OMIM:613807
Marfanoid-Progeroid-Lipodystrophy Syndrome
Scapular winging, Asymmetric ventricles, Dural ectasia, Hydrocephalus OMIM:616914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Muscular dystrophy, Hydrocephalus, Ventriculomegaly OMIM:616538
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Neurofibromatosis Type 2
Myelopathy, Wrist drop, Facial palsy, Hydrocephalus, Spinal cord tumor, Foot dorsiflexor weakness... ORPHA:637
Posterior Meningocele
Meningocele, Occipital meningocele, Hydromyelia, Neural tube defect, Hydrocephalus, Tethered cord... ORPHA:268810
Hydrolethalus
Arrhinencephaly, Hydrocephalus, Anencephaly ORPHA:2189
Trisomy 17P
Macroglossia, Hydrocephalus, Skeletal muscle atrophy, Flexion contracture ORPHA:261290
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Pelvis-Shoulder Dysplasia
Spina bifida, Hydrocephalus, Hydranencephaly, Camptodactyly of finger ORPHA:2839
3C Syndrome
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly ORPHA:7
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, Hydrocephalus ORPHA:2409
Whipple Disease
Hydrocephalus, Erectile dysfunction, Myositis ORPHA:3452
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Hydrocephalus ORPHA:1834
Fanconi Anemia, Complementation Group B
Hypogonadism, Hydrocephalus, Hypergonadotropic hypogonadism, Ventriculomegaly OMIM:300514
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Holoprosencephaly, Congenital muscular dystrophy, Hydrocephalus, Calf mu... OMIM:253800
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:60040
Spinal Arteriovenous Metameric Syndrome
Spinal arteriovenous malformation, Abnormality of the spinal cord ORPHA:53721
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Hydrocephalus ORPHA:2075
Mucopolysaccharidosis, Type Vi
Macroglossia, Cervical myelopathy, Hydrocephalus OMIM:253200
Muenke Syndrome
Hydrocephalus ORPHA:53271
Popov-Chang syndrome
Self-injurious behavior, Hydrocephalus OMIM:618428
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Arachnoiditis
Hydrocephalus ORPHA:137817
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Large Congenital Melanocytic Nevus
Hydrocephalus, Rhabdomyosarcoma ORPHA:626
B4Galt1-Cdg
Dandy-Walker malformation, Hydrocephalus ORPHA:79332
Trisomy 1Q
Congenital diaphragmatic hernia, Hydrocephalus, Camptodactyly of finger, Ventriculomegaly ORPHA:261344
Osteopetrosis, Autosomal Recessive 1
Facial palsy, Facial paralysis, Hydrocephalus OMIM:259700
Dyssegmental Dysplasia, Silverman-Handmaker Type
Spontaneous abortion, Hydrocephalus, Flexion contracture ORPHA:1865
Meckel Syndrome, Type 3
Dandy-Walker malformation, Hydrocephalus OMIM:607361
Multiple Sulfatase Deficiency
Hydrocephalus, Rapid neurologic deterioration ORPHA:585
Hurler Syndrome
Hydrocephalus, Progressive neurologic deterioration, Flexion contracture OMIM:607014
Griscelli Syndrome
Hydrocephalus ORPHA:381
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:238769
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Dementia, Cognitive impairment, Subependymal nodules, Ventriculomegaly ORPHA:25
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Choroid plexus cyst, Hydrocephalus, Ventriculomegaly OMIM:617866
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus OMIM:614886
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Male infertility ORPHA:48
Tetrasomy 5P
Aplasia/Hypoplasia of the abdominal wall musculature, Hydrocephalus ORPHA:3309
Meningioma
Amenorrhea, Hypogonadotropic hypogonadism, Cognitive impairment, Facial palsy, Emotional lability... ORPHA:2495
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus OMIM:616482
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly ORPHA:1860
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Communicating hydrocephalus, Ventriculomegaly OMIM:615219
Meckel Syndrome, Type 6
Hydrocephalus, Anencephaly OMIM:612284
Chromosome 6Pter-P24 Deletion Syndrome
Dandy-Walker malformation, Hydrocephalus OMIM:612582
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Cryptococcosis
Limb muscle weakness, Prostatitis, Hydrocephalus, Mental deterioration, Memory impairment ORPHA:1546
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Congenital diaphragmatic hernia, Aggressive behavior, Ventriculomegaly, ... ORPHA:96121
Fg Syndrome Type 1
Progressive flexion contractures, Hydrocephalus, Ventriculomegaly ORPHA:93932
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Holoprosencephaly
Dandy-Walker malformation, Holoprosencephaly, Congenital diaphragmatic hernia, Cognitive impairme... ORPHA:2162
Cousin Syndrome
Hydranencephaly, Joint contracture of the hand, Wrist flexion contracture, Hydrocephalus, Camptod... OMIM:260660
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Torticollis, Emotional lability, Dilation of lateral ventricles, C... ORPHA:300570
15Q Overgrowth Syndrome
Dandy-Walker malformation, Syringomyelia, Contracture of the proximal interphalangeal joint of th... ORPHA:314585
Chromosome 6Q24-Q25 Deletion Syndrome
Dilation of lateral ventricles, Hydrocephalus OMIM:612863
H Syndrome
Amenorrhea, Azoospermia, Hypogonadism, Hydrocephalus, Camptodactyly ORPHA:168569
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Hydrocephalus ORPHA:77298
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Male infertility OMIM:244400
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Joint contracture of the hand, Camptodactyly OMIM:224400
Rhombencephalosynapsis
Hydrocephalus, Ventriculomegaly ORPHA:59315
Alexander Disease
Self-injurious behavior, Facial palsy, Emotional lability, Hydrocephalus, Aqueductal stenosis ORPHA:58
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dementia, Atrophy of the spinal cord, Hydrocephalus, Mental deterioration, Memory impairment ORPHA:79282
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Dandy-Walker malformation, Muscular dystrophy, Hydrocephalus, Ventriculomegaly OMIM:614643
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly ORPHA:1335
Mucopolysaccharidosis, Type Vii
Macroglossia, Hydrocephalus, Flexion contracture OMIM:253220
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Flexion contracture, Camptodactyly OMIM:207410
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Self-injurious behavior, Hydrocephalus, Dilation of lateral ventricles, ... OMIM:619575
Endocrine-Cerebroosteodysplasia
Holoprosencephaly, Hydrocephalus, Ventriculomegaly OMIM:612651
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Carnitine Palmitoyltransferase Ii Deficiency
Myopathy, Rhabdomyolysis, Hydrocephalus ORPHA:157
Spondyloepimetaphyseal Dysplasia, Krakow Type
Knee flexion contracture, Hydrocephalus, Elbow flexion contracture OMIM:618162
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Congenital diaphragmatic hernia, Hydrocephalus, Chordee OMIM:309801
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus OMIM:273730
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus OMIM:259720
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Achondroplasia
Hydrocephalus ORPHA:15
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Vacterl With Hydrocephalus
Arrhinencephaly, Spina bifida, Hydrocephalus, Aqueductal stenosis ORPHA:3412
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly OMIM:313850
Joubert Syndrome With Oculorenal Defect
Hydrocephalus ORPHA:2318
Limb Body Wall Complex
Anencephaly, Myelomeningocele, Congenital diaphragmatic hernia, Abnormality of the spinal cord, D... ORPHA:2369
Mucopolysaccharidosis Type 3
Dementia, Macroglossia, Aggressive behavior, Progressive neurologic deterioration, Ventriculomega... ORPHA:581
Joubert Syndrome With Renal Defect
Hydrocephalus ORPHA:220497
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:1812
Joubert Syndrome
Hydrocephalus ORPHA:475
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus ORPHA:2969
Acrodysostosis 1 With Or Without Hormone Resistance
Hypogonadism, Irregular menstruation, Hydrocephalus OMIM:101800
Fanconi Anemia, Complementation Group L
Hydrocephalus OMIM:614083
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly OMIM:616546
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Flexion contracture of finger, Abnormality of the spinal cord, Camptodactyly ORPHA:88628
Adams-Oliver Syndrome
Hydrocephalus ORPHA:974
Coccidioidomycosis
Abnormal sperm morphology, Cognitive impairment, CSF lymphocytic pleiocytosis, Hypoglycorrhachia,... ORPHA:228123
Desmosterolosis
Arthrogryposis multiplex congenita, Hydrocephalus, Joint contracture of the hand, Ventriculomegaly OMIM:602398
Icf Syndrome
Macroglossia, Communicating hydrocephalus ORPHA:2268
Hyperphosphatasia With Mental Retardation Syndrome 1
Hydrocephalus OMIM:239300
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Self-injurious behavior, Arthrogryposis multiplex congenita, Hydrocephalus, Anxiety, Aqueductal s... OMIM:619512
Amoebiasis Due To Free-Living Amoebae
Abnormality of the cerebrospinal fluid, Abnormality of the spinal cord, Facial palsy, CSF lymphoc... ORPHA:68
Desmosterolosis
Hydrocephalus, Ventriculomegaly ORPHA:35107
Mirage Syndrome
Hydrocephalus, Hypergonadotropic hypogonadism OMIM:617053
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Left ventricular hypertrophy, Congenital diaphragmatic hernia, Hydrocephalus, Elbow flexion contr... OMIM:245600
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Dementia, Hydrocephalus OMIM:277400
Lhermitte-Duclos Disease
Macroglossia, Hydrocephalus ORPHA:65285
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis ORPHA:93259
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Ventriculomegaly OMIM:123790
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Joubert Syndrome With Ocular Defect
Hydrocephalus ORPHA:220493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Dandy-Walker malformation, Congenital muscular dystrophy, Ventriculomegaly, Hydrocephalus, Congen... OMIM:236670
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Macroglossia, Aggressive behavior, Cognitive impairment, Progressive... ORPHA:580
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Facial palsy, Joint contracture of the hand, Hydrocephalus, Camptodac... OMIM:300373
Otopalatodigital Syndrome Type 2
Hydrocephalus, Myelomeningocele, Camptodactyly of finger ORPHA:90652
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Pseudotrisomy 13 Syndrome
Holoprosencephaly, Hydrocephalus OMIM:264480
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Myopathy, Male infertility, Hypogonadism ORPHA:85450
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Plasminogen Deficiency, Type I
Dandy-Walker malformation, Hydrocephalus OMIM:217090
Joubert Syndrome 2
Hydrocephalus, Enlarged fossa interpeduncularis OMIM:608091
Apert Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:87
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Camptodactyly, Hydrocephalus, Ventriculomegaly ORPHA:1272
Raine Syndrome
Hydrocephalus, Arthrogryposis multiplex congenita OMIM:259775
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Encephalocraniocutaneous Lipomatosis
Dandy-Walker malformation, Hydrocephalus OMIM:613001
Mucopolysaccharidosis Type 1
Hydrocephalus, Abnormal tendon morphology ORPHA:579
Marden-Walker Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle atrophy, Arthrogryposis mu... ORPHA:2461
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Androgen Insensitivity Syndrome
Male infertility ORPHA:754
Familial Lambdoid Synostosis
Hydrocephalus ORPHA:3267
Opitz-Kaveggia Syndrome
Multiple joint contractures, Hydrocephalus, Joint contracture of the hand, Camptodactyly OMIM:305450
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Thakker-Donnai Syndrome
Communicating hydrocephalus, Congenital diaphragmatic hernia ORPHA:1780
Cardiofaciocutaneous Syndrome 1
Hydrocephalus OMIM:115150
Hurler Syndrome
Macroglossia, Hydrocephalus, Camptodactyly of finger ORPHA:93473
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus ORPHA:1555
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus, Joint contracture of the hand, Camptodactyly OMIM:182212
Mosaic Variegated Aneuploidy Syndrome 1
Dandy-Walker malformation, Hydrocephalus, Rhabdomyosarcoma, Ventriculomegaly OMIM:257300
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus ORPHA:3301
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Macroglossia, Hydrocephalus, Flexion contracture ORPHA:505248
Campomelic Dysplasia
Hydrocephalus OMIM:114290
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Koolen-De Vries Syndrome Due To A Point Mutation
Ventriculomegaly, Dural ectasia, Spina bifida, Hydrocephalus, Anxiety, Hand muscle atrophy ORPHA:363965
17Q21.31 Microdeletion Syndrome
Ventriculomegaly, Dural ectasia, Spina bifida, Hydrocephalus, Anxiety, Hand muscle atrophy ORPHA:363958
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Hydrocephalus, Primary amenorrhea, Flexion contracture, Camptodactyly, Elbow flexio... ORPHA:95699
Stromme Syndrome
Myopathy, Hydrocephalus OMIM:243605
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Hydrocephalus ORPHA:268249
Monosomy 9Q22.3
Hydrocephalus, Rhabdomyosarcoma, Ventriculomegaly ORPHA:77301
Jacobsen Syndrome
Holoprosencephaly, Hydrocephalus, Flexion contracture OMIM:147791
Mend Syndrome
Dandy-Walker malformation, Aggressive behavior, Hydrocephalus, Limb hypertonia ORPHA:401973
Apert Syndrome
Hydrocephalus, Ventriculomegaly OMIM:101200
Split Cord Malformation
Meningocele, Hydromyelia, Myelomeningocele, Spinal cord tumor, Syringomyelia, Hydrocephalus, Cerv... ORPHA:573278
Fanconi Anemia
Azoospermia, Ventriculomegaly, Hypogonadism, Spina bifida, Hydrocephalus, Decreased fertility in ... ORPHA:84
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
1Q21.1 Microdeletion Syndrome
Anxiety, Hydrocephalus ORPHA:250989
Orofaciodigital Syndrome I
Hydrocephalus, Myelomeningocele OMIM:311200
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Rhabdomyosarcoma, Aqueductal stenosis OMIM:162200
Craniopharyngioma
Hypogonadism, Hypogonadotropic hypogonadism, Hydrocephalus ORPHA:54595
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Violent behavior, Torticollis, Suicidal ideation, Cognitive impairment, Aggressive behavior, Decr... OMIM:619475
Basal Cell Nevus Syndrome
Spina bifida, Hydrocephalus OMIM:109400
Joubert Syndrome With Hepatic Defect
Hydrocephalus ORPHA:1454
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Ventriculomegaly ORPHA:228308
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Short-Rib Thoracic Dysplasia 12
Holoprosencephaly, Hydrocephalus, Anencephaly OMIM:269860
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Acrofacial Dysostosis 1, Nager Type
Hydrocephalus, Aqueductal stenosis OMIM:154400
Dubowitz Syndrome
Spina bifida occulta, Hydrocephalus ORPHA:235
Mohr Syndrome
Hydrocephalus OMIM:252100
Cardiofaciocutaneous Syndrome
Hydrocephalus ORPHA:1340
Complete Androgen Insensitivity Syndrome
Male infertility, Primary amenorrhea ORPHA:99429
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Semilobar holoprosencephaly OMIM:610828
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Aplasia/Hypoplasia of the abdominal wall musculature, Camptodactyly ... ORPHA:2462
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Myopathy, Macroglossia, Facial hypotonia, Anxiety ORPHA:309282
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Facial hypotonia, Hydrocephalus, Ventriculomegaly ORPHA:457284
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male hypogonadism, Male infertility, Primary amenorrhea, Irregular menstruation, Decreased fertility ORPHA:90793
Capillary Malformation-Arteriovenous Malformation
Abnormality of the musculature of the limbs, Hydrocephalus ORPHA:137667
Monosomy 18Q
Hydrocephalus ORPHA:1600
Otopalatodigital Syndrome, Type Ii
Hydrocephalus OMIM:304120
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Torticollis, Hydrocephalus, Multiple joint contractures ORPHA:536467
Dextrocardia
Hydrocephalus ORPHA:1666
Semilobar Holoprosencephaly
Neural tube defect, Apathy, Irritability, Hydrocephalus, Flexion contracture, Anxiety ORPHA:220386
Alobar Holoprosencephaly
Neural tube defect, Apathy, Irritability, Hydrocephalus, Flexion contracture, Anxiety ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Apathy, Irritability, Hydrocephalus, Flexion contracture, Anxiety ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Apathy, Irritability, Hydrocephalus, Flexion contracture, Anxiety ORPHA:93924
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Myopathy, Hip contracture, Hypogonadism, Hydrocephalus, Flexion contracture ORPHA:3042
Kabuki Syndrome
Congenital diaphragmatic hernia, Hydrocephalus, Ventriculomegaly ORPHA:2322
22Q11.2 Deletion Syndrome
Meningocele, Arrhinencephaly, Occipital myelomeningocele, Spina bifida, Hydrocephalus, Anxiety ORPHA:567
Hajdu-Cheney Syndrome
Hydrocephalus, Syringomyelia ORPHA:955
Smith-Lemli-Opitz Syndrome
Dandy-Walker malformation, Holoprosencephaly, Aggressive behavior, Self-mutilation, Hydrocephalus OMIM:270400
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Trisomy 8P
Dandy-Walker malformation, Hydrocephalus, Multiple joint contractures ORPHA:264450
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Hypergonadotropic hypogonadism OMIM:227646
Partial Androgen Insensitivity Syndrome
Male sexual dysfunction, Male infertility, Primary amenorrhea, Azoospermia ORPHA:90797
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Tetrasomy 9P
Dandy-Walker malformation, Oligospermia, Infertility, Myositis, Abnormality of the spinal cord, H... ORPHA:3310
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Hypoplasminogenemia
Dandy-Walker malformation, Hydrocephalus, Cervicitis ORPHA:722
Osteogenesis Imperfecta
Syringomyelia, Noncommunicating hydrocephalus, Ventriculomegaly, Hydrocephalus, Flexion contracture ORPHA:666
Pituitary Deficiency Due To Rathke Cleft Cysts
Hypogonadotropic hypogonadism, Hydrocephalus ORPHA:91350
Cockayne Syndrome A
Hypogonadism, Irregular menstruation, Normal pressure hydrocephalus, Dementia OMIM:216400
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Craniofacial Microsomia
Hydrocephalus, Hypoplasia of facial musculature OMIM:164210
Cystinosis, Nephropathic
Myopathy, Skeletal muscle atrophy, Progressive neurologic deterioration, Male hypogonadism, Male ... OMIM:219800
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Hydrocephalus, Ventriculomegaly OMIM:617011
Distal 22Q11.2 Microduplication Syndrome
Macroglossia, Hydrocephalus, Camptodactyly of toe, Camptodactyly of finger ORPHA:261337
Lymphangioleiomyomatosis
Cognitive impairment, Hydrocephalus ORPHA:538
Cerebrooculonasal Syndrome
Hydrocephalus OMIM:605627
Lenz-Majewski Hyperostotic Dwarfism
Hypogonadism, Hydrocephalus, Facial palsy ORPHA:2658
Isotretinoin-Like Syndrome
Hydrocephalus ORPHA:2306
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia ORPHA:168577
Osteopetrosis, Autosomal Recessive 7
Dilation of lateral ventricles, Hydrocephalus OMIM:612301
Meckel Syndrome
Dandy-Walker malformation, Lobar holoprosencephaly, Hydrocephalus, Anencephaly ORPHA:564
Meckel Syndrome, Type 1
Dandy-Walker malformation, Hydrocephalus, Anencephaly OMIM:249000
Oeis Complex
Tethered cord, Hydrocephalus, Myelomeningocele OMIM:258040
Fetal Akinesia Deformation Sequence 1
Generalized amyotrophy, Hydrocephalus, Arthrogryposis multiplex congenita, Camptodactyly of finger OMIM:208150
Aromatase Deficiency
Female infertility, Male infertility, Primary amenorrhea, Hypergonadotropic hypogonadism ORPHA:91
Pseudoaminopterin Syndrome
Hydrocephalus, Posterolateral diaphragmatic hernia ORPHA:221120
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism OMIM:227650
Wiedemann-Rautenstrauch Syndrome
Dandy-Walker malformation, Generalized amyotrophy, Hydrocephalus, Flexion contracture OMIM:264090
Gaucher Disease
Hydrocephalus, Arthrogryposis multiplex congenita, Ventriculomegaly ORPHA:355
Holoprosencephaly-Postaxial Polydactyly Syndrome
Holoprosencephaly, Hydrocephalus ORPHA:2166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Muscular dystrophy, Hydrocephalus, Ventriculomegaly OMIM:253280
Hajdu-Cheney Syndrome
Hydrocephalus OMIM:102500
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus ORPHA:163979
Bloom Syndrome
Oligospermia, Male infertility, Premature ovarian insufficiency, Azoospermia ORPHA:125
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus OMIM:616084
Focal Dermal Hypoplasia
Myelomeningocele, Congenital diaphragmatic hernia, Diastasis recti, Hydrocephalus, Spina bifida o... OMIM:305600
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Azoospermia, Hydrocephalus, Ventriculomegaly ORPHA:2072
Wolf-Hirschhorn Syndrome
Tethered cord, Decreased muscle mass, Hydrocephalus, Ventriculomegaly OMIM:194190
Tuberous Sclerosis Complex
Self-injurious behavior, Aggressive behavior, Noncommunicating hydrocephalus, Subependymal nodule... ORPHA:805
Primary Sjögren Syndrome
Dementia, Myositis, Abnormality of the spinal cord, Cognitive impairment, Anxiety ORPHA:289390
Costello Syndrome
Rhabdomyosarcoma, Macroglossia, Achilles tendon contracture, Ventriculomegaly, Hydrocephalus OMIM:218040
Knobloch Syndrome
Hydrocephalus ORPHA:1571
Tetraamelia Syndrome 1
Hydrocephalus, Abnormality of the diaphragm OMIM:273395
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia, Hydrocephalus ORPHA:2556
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Hypoplasia of the ovary, Flexion contracture OMIM:619321
Fontaine Progeroid Syndrome
Left ventricular hypertrophy, Hypoplasia of the abdominal wall musculature, Hydrocephalus OMIM:612289
Exstrophy-Epispadias Complex
Female sexual dysfunction, Male sexual dysfunction, Spina bifida, Hydrocephalus ORPHA:322
Microphthalmia With Limb Anomalies
Arrhinencephaly, Hydrocephalus, Camptodactyly of 2nd-5th fingers ORPHA:1106
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Facial hypotonia, Ventriculomegaly ORPHA:457359
Histiocytoid Cardiomyopathy
Hydrocephalus ORPHA:137675
Loeys-Dietz Syndrome 2
Dural ectasia, Hydrocephalus, Joint contracture of the hand, Camptodactyly OMIM:610168
Baller-Gerold Syndrome
Spina bifida occulta, Hydrocephalus OMIM:218600
Neurofibromatosis Type 1
Hydrocephalus, Memory impairment ORPHA:636
45,X/46,Xy Mixed Gonadal Dysgenesis
Muscle hypertrophy of the lower extremities, Streak ovary, Azoospermia, Chordee, Male infertility ORPHA:1772
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Azoospermia, Male infertility, Primary amenorrhea, Hypergonadotropic hypogonadism, ... ORPHA:251510
Holoprosencephaly 9
Holoprosencephaly, Hydrocephalus OMIM:610829
Hydrolethalus Syndrome 1
Dandy-Walker malformation, Arrhinencephaly, Severe hydrocephalus, Agenesis of the diaphragm, Anen... OMIM:236680
Chromosome 1P36 Deletion Syndrome, Distal
Aggressive behavior, Self-mutilation, Hydrocephalus, Camptodactyly of finger, Camptodactyly, Dila... OMIM:607872
Fraser Syndrome 1
Hydrocephalus, Myelomeningocele OMIM:219000