Gene: Cfap57 MGI:2686209

Gene Summary

Name:

cilia and flagella associated protein 57

Synonyms:

Wdr65, 1110020C03Rik, LOC384050, C130004B06Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased exploration in new environment	Cfap57^em1(IMPC)Mbp	HOM	Early adult	4.72×10^-06
abnormal spinal cord morphology	Cfap57^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal brain morphology	Cfap57^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal skeletal muscle morphology	Cfap57^em1(IMPC)Mbp	HOM	Early adult	0.00
hydrocephaly	Cfap57^em1(IMPC)Mbp	HOM	Early adult	0.00
male infertility	Cfap57^em1(IMPC)Mbp	HOM	Early adult	0.00

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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.

Human diseases associated with Cfap57 (0 diseases)
Human diseases predicted to be associated with Cfap57 (512 diseases)

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	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

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