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
abnormal brain morphology	Cfap57^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased exploration in new environment	Cfap57^em1(IMPC)Mbp	HOM	Early adult	7.82×10^-05
hydrocephaly	Cfap57^em1(IMPC)Mbp	HOM	Early adult	0.00
male infertility	Cfap57^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal spinal cord morphology	Cfap57^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal skeletal muscle morphology	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.

Histopathology

Images

4 Images

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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 (551 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
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Trapezius muscle aplasia, Hydrocephalus	OMIM:600257
Pineocytoma	Hydrocephalus, Increased CSF protein, Memory impairment, Cognitive impairment	ORPHA:251912
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma, Cognitive impairment	ORPHA:2807
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Spermatogenic Failure 72	Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s...	OMIM:619867
Spermatogenic Failure 65	Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced...	OMIM:619712
Spermatogenic Failure 46	Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell...	OMIM:619095
Spermatogenic Failure 20	Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 56	Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced...	OMIM:619515
Spermatogenic Failure 43	Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai...	OMIM:618751
Spermatogenic Failure 49	Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe...	OMIM:619094
Hydrocephalus With Cerebellar Agenesis	Hydrocephalus	OMIM:307010
Spermatogenic Failure, X-Linked, 3	Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short...	OMIM:301059
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Apathy, Irritability	ORPHA:99966
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Spermatogenic Failure 54	Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel...	OMIM:619379
Spermatogenic Failure 58	Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ...	OMIM:619585
Spermatogenic Failure 40	Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse...	OMIM:618664
Spermatogenic Failure 42	Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma...	OMIM:618745
Spermatogenic Failure 39	Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili...	OMIM:618643
Spermatogenic Failure 47	Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella	OMIM:619102
Spermatogenic Failure 41	Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head	OMIM:618670
Spermatogenic Failure 7	Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility	OMIM:612997
Male Infertility Due To Acephalic Spermatozoa	Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid...	ORPHA:529970
Spermatogenic Failure 11	Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest	OMIM:619672
Spermatogenic Failure 73	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619937
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility	OMIM:619108
Spermatogenic Failure 1	Cryptozoospermia, Oligospermia, Male infertility	OMIM:258150
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi...	OMIM:611102
Spermatogenic Failure 57	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619528
Melanosis, Neurocutaneous	Hydrocephalus, Mental deterioration, Syringomyelia, Choroid plexus papilloma, Dandy-Walker malfor...	OMIM:249400
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Immotile sperm, Abnormal sperm morphology	OMIM:608653
Spermatogenic Failure 70	Azoospermia, Oligospermia, Male infertility, Reduced sperm motility	OMIM:619828
Partial Chromosome Y Deletion	Non-obstructive azoospermia, Abnormal spermatogenesis, Oligospermia, Male infertility	ORPHA:1646
Spermatogenic Failure 22	Cryptozoospermia, Male infertility, Non-obstructive azoospermia	OMIM:617706
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus, Memory impairment	ORPHA:1008
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Spermatogenic Failure 5	Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa	OMIM:243060
Spermatogenic Failure 63	Reduced progressive sperm motility, Oligospermia, Male infertility	OMIM:619689
Spermatogenic Failure 44	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 64	Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility	OMIM:619696
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Male infertility, Azoospermia	OMIM:619145
Fried Syndrome	Hydrocephalus, Skeletal muscle atrophy, Aggressive behavior	ORPHA:85335
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Hydrocephalus, Flexion contracture, Muscular dystrophy, Ventriculomegaly, Dandy-Walker malformation	OMIM:613154
Spermatogenic Failure 71	Non-obstructive azoospermia, Male infertility	OMIM:619831
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Distal 7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Hydrocephalus, Anxiety, Frontal encephalocele	ORPHA:261102
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly, Muscular dystrophy	OMIM:614830
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Band Heterotopia	Hydrocephalus, Ventriculomegaly	OMIM:600348
Autosomal Dominant Spastic Paraplegia Type 38	Amyotrophy of ankle musculature, Cognitive impairment, First dorsal interossei muscle atrophy, Th...	ORPHA:171617
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein, Memory impairment, Cognitive impairment	ORPHA:251915
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus, Hand muscle weakness, Flexion contracture, Quadriceps muscle weakness, Foot dorsif...	ORPHA:99947
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus	OMIM:166990
Developmental And Epileptic Encephalopathy 36	Hydrocephalus, Flexion contracture, Self-mutilation	OMIM:300884
Pettigrew Syndrome	Hydrocephalus, Self-injurious behavior, Flexion contracture, Ventriculomegaly, Dandy-Walker malfo...	OMIM:304340
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus, Aggressive behavior, Elbow flexion contracture	OMIM:619470
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Isochromosomy Yp	Azoospermia, Male infertility	ORPHA:98797
Dandy-Walker Syndrome	Hydrocephalus, Dilated fourth ventricle	OMIM:220200
Gómez-López-Hernández Syndrome	Hydrocephalus, Cognitive impairment	ORPHA:1532
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Congenital muscular dystrophy, Hydrocephalus, Occipital encephalocele, Ventriculomegaly	ORPHA:324416
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects	Myelomeningocele, Hydrocephalus, Abnormality of the diaphragm, Spina bifida occulta	OMIM:183802
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility	OMIM:261550
Epilepsy, Pyridoxine-Dependent	Hydrocephalus	OMIM:266100
Spermatogenic Failure 38	Coiled sperm flagella, Reduced sperm motility, Oligospermia, Male infertility, Abnormal sperm hea...	OMIM:618433
Spinocerebellar Ataxia Type 32	Azoospermia, Testicular atrophy, Male infertility, Cognitive impairment	ORPHA:276183
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
Frontal Encephalocele	Hydrocephalus, Spina bifida, Encephalocele	ORPHA:1931
Alexander Disease	Apathy, Hydrocephalus, Increased CSF protein	OMIM:203450
Acalvaria	Hydrocephalus, Spina bifida, Holoprosencephaly	ORPHA:945
1Q21.1 Microduplication Syndrome	Hydrocephalus, Arthrogryposis multiplex congenita	ORPHA:250994
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Holoprosencephaly 5	Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen...	OMIM:609637
Muscle-Eye-Brain Disease	Hydrocephalus, Cognitive impairment, Holoprosencephaly, Meningocele, Myopathy	ORPHA:588
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, ...	ORPHA:272
Developmental And Epileptic Encephalopathy 49	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:617281
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Hydrocephalus, Hypogonadism	ORPHA:141333
Hemangioblastoma	Hydrocephalus, Spinal hemangioblastoma, Upper limb muscle weakness, Lower limb muscle weakness	ORPHA:252054
Masa Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:303350
Isochromosomy Yq	Azoospermia, Male infertility	ORPHA:98798
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Neural Tube Defects, Susceptibility To	Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta	OMIM:182940
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked	Hydrocephalus	OMIM:300864
Keratoderma Hereditarium Mutilans	Hypogonadotropic hypogonadism, Self-injurious behavior, Abnormality of the spinal cord, Cognitive...	ORPHA:494
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Nasu-Hakola Disease	Hydrocephalus, Memory impairment, Frontal lobe dementia, Ventriculomegaly, Irritability	ORPHA:2770
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Aggressive behavior, Self-mutilation	OMIM:616521
Chiari Malformation Type Ii	Myelomeningocele, Hydrocephalus, Limb muscle weakness, Syringomyelia, Spina bifida, Cervical myel...	OMIM:207950
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	OMIM:260500
Spermatogenic Failure 75	Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest	OMIM:619949
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Congenital Hydrocephalus	Hydrocephalus, Colpocephaly, Ventriculomegaly	ORPHA:2185
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Azoospermia, Hydrocephalus	ORPHA:2183
Spermatogenic Failure 6	Globozoospermia, Male infertility, Decreased acrosin in sperm head	OMIM:102530
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Dementia	OMIM:236690
Congenital Toxoplasmosis	Hydrocephalus, Ventriculomegaly, Cognitive impairment	ORPHA:858
Spermatogenic Failure 2	Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility	OMIM:108420
Spermatogenic Failure, X-Linked, 2	Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Spermatogenic Failure 15	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:616950
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus, Anxiety, Aggressive behavior	OMIM:300558
Arnold-Chiari Malformation Type Ii	Myelomeningocele, Hydrocephalus, Aqueductal stenosis, Emotional lability, Hand muscle atrophy, An...	ORPHA:1136
Achondroplasia	Hydrocephalus	OMIM:100800
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Hydrocephalus, Occipital encephalocele	ORPHA:352682
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Left ventricular hypertrophy, Muscular dystrophy, Ventriculomegaly, Dandy-Walker m...	OMIM:613153
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydrocephalus, Flexion contracture, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation	OMIM:225790
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Obstructive azoospermia	OMIM:301060
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus	OMIM:619302
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Congenital diaphragmatic hernia	ORPHA:380
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
L1 Syndrome	Hydrocephalus, Skeletal muscle atrophy, Aqueductal stenosis	ORPHA:275543
Congenital Muscular Dystrophy With Cerebellar Involvement	Reduced muscle fiber alpha dystroglycan, Hydrocephalus, Hypoglycosylation of alpha-dystroglycan, ...	ORPHA:370959
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Abnormal muscle fiber morphology, Joint contracture of the hand, Camptodactyly of ...	OMIM:175700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydrocephalus, Muscular dystrophy, Anencephaly, Ventriculomegaly, Occipital encephalocele, Dandy-...	OMIM:615287
Amelocerebrohypohidrotic Syndrome	Mental deterioration, Hydrocephalus, Dementia	ORPHA:1946
Aicardi-Goutieres Syndrome 4	CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly	OMIM:610333
Temple Syndrome	Hydrocephalus, Flexion contracture	OMIM:616222
Arachnoid Cyst	Hydrocephalus, Social and occupational deterioration, Holoprosencephaly, Abnormal spinal meningea...	ORPHA:2356
Krabbe Disease	Hydrocephalus, Increased CSF protein, Motor deterioration	OMIM:245200
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Abnormality of the spinal cord, Distal amyotrophy	ORPHA:139578
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Thanatophoric Dysplasia Type 2	Hydrocephalus, Cognitive impairment, Holoprosencephaly, Ventriculomegaly, Encephalocele	ORPHA:93274
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele, Arrhinencephaly	ORPHA:1528
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, Elbow flexion contracture, Knee flexion contracture	OMIM:613776
Hydrocephalus, Congenital Communicating, 1	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia, Cognitive impairment, Left ventricular ...	ORPHA:90065
Lissencephaly 5	Hydrocephalus, Occipital encephalocele	OMIM:615191
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:602501
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius	Flexion contracture of thumb, Hydrocephalus, Aqueductal stenosis	OMIM:307000
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus, Macroglossia	ORPHA:1914
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus, Hypogonadism	OMIM:601794
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus	OMIM:304100
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Hydrocephalus, Self-injurious behavior, Distal arthrogryposis, Ventriculomegaly, Aggressive behav...	OMIM:619833
Intellectual Developmental Disorder, Autosomal Dominant 35	Hydrocephalus, Facial hypotonia, Ventriculomegaly, Congenital muscular torticollis	OMIM:616355
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus, Muscular dystrophy	OMIM:615181
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Joubert Syndrome 14	Hydrocephalus, Irritability, Dandy-Walker malformation, Encephalocele	OMIM:614424
Classic Galactosemia	Mental deterioration, Oligomenorrhea, Primary amenorrhea, Anxiety, Decreased fertility in females...	ORPHA:79239
Dandy-Walker Malformation With Postaxial Polydactyly	Hydrocephalus, Dilated fourth ventricle, Dandy-Walker malformation	OMIM:220220
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:163961
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Ventriculomegaly	OMIM:618577
Central Precocious Puberty	Hydrocephalus	ORPHA:759
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Hydrocephalus, Aqueductal stenosis, Holoprosencephaly	ORPHA:2182
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Anterior encephalocele	OMIM:614195
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:83473
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Metatropic Dysplasia	Hydrocephalus, Camptodactyly of finger	ORPHA:2635
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Cognitive impairment, Mental deterioration, Lower limb muscle weakness, Atrophy of...	ORPHA:395
Adrenomyeloneuropathy	Dorsal column degeneration, Female sexual dysfunction, Cognitive impairment, Memory impairment, A...	ORPHA:139399
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Flexion contracture, Diaphragmatic eventration, Facial palsy, Dandy-Walker malform...	OMIM:310400
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, Anxiety, Ventriculomegaly	OMIM:609757
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia	Hydrocephalus	OMIM:600991
Aminopterin/Methotrexate Embryofetopathy	Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Meningocele, Encephalocele	ORPHA:1908
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Familial Male-Limited Precocious Puberty	Oligospermia, Male infertility	ORPHA:3000
Czeizel-Losonci Syndrome	Myelomeningocele, Hydrocephalus, Aplasia of the left hemidiaphragm, Spina bifida occulta, Postero...	ORPHA:2437
Aase-Smith Syndrome I	Hydrocephalus, Flexion contracture, Dandy-Walker malformation	OMIM:147800
Iniencephaly	Myelomeningocele, Hydrocephalus, Congenital diaphragmatic hernia, Holoprosencephaly, Anencephaly,...	ORPHA:63259
Oxoglutaric Aciduria	Hydrocephalus, Skeletal muscle atrophy	ORPHA:31
Mental Retardation, Buenos Aires Type	Hydrocephalus	OMIM:249630
Pallister-Hall-Like Syndrome	Hydrocephalus, Occipital encephalocele	OMIM:241800
Intellectual Developmental Disorder, Autosomal Dominant 36	Hydrocephalus, Facial hypotonia, Ventriculomegaly	OMIM:616362
Infantile Sialic Acid Storage Disease	Hydrocephalus	OMIM:269920
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Absent extraocular muscles, Hydrocephalus, Ventriculomegaly	OMIM:109120
Meckel Syndrome, Type 4	Hydrocephalus, Anencephaly, Meningocele, Encephalocele, Dandy-Walker malformation	OMIM:611134
Diabetic Embryopathy	Spinal dysraphism, Hydrocephalus, Aplasia/Hypoplasia of the abdominal wall musculature	ORPHA:1926
Functioning Gonadotropic Adenoma	Amenorrhea, Infertility, Hydrocephalus, Impotence, Oligospermia, Abnormality of the menstrual cyc...	ORPHA:91348
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Hydrocephalus With Associated Malformations	Hydrocephalus	OMIM:236640
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Mental deterioration, Hydrocephalus, Ventriculomegaly	OMIM:618476
16P13.2 Microdeletion Syndrome	Hydrocephalus, Flexion contracture, Dilated third ventricle, Ventriculomegaly, Aggressive behavio...	ORPHA:500055
Thanatophoric Dysplasia	Hydrocephalus, Ventriculomegaly	ORPHA:2655
Emanuel Syndrome	Infertility, Hydrocephalus, Multiple joint contractures, Congenital diaphragmatic hernia, Ventric...	ORPHA:96170
Mend Syndrome	Hydrocephalus, Dandy-Walker malformation	OMIM:300960
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hydrocephalus	ORPHA:171839
Triploidy	Hydrocephalus, Meningocele, Macroglossia, Holoprosencephaly	ORPHA:3376
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Skeletal muscle atrophy, Knee flexion contracture	OMIM:603387
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus	ORPHA:2701
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocephalus	OMIM:613603
47,Xyy Syndrome	Azoospermia, Hydrocephalus, Oligospermia, Male infertility	ORPHA:8
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Hydrocephalus, Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variabili...	OMIM:613150
Temple Syndrome	Hydrocephalus	ORPHA:254516
Coach Syndrome 2	Hydrocephalus	OMIM:619111
Dural Sinus Malformation	Hydrocephalus, Apathy, Mental deterioration, Myelopathy, Dementia	ORPHA:97339
Ciliary Dyskinesia, Primary, 34	Male infertility, Immotile sperm	OMIM:617091
Gorlin Syndrome	Hypogonadotropic hypogonadism, Hydrocephalus	ORPHA:377
Ring Chromosome Y Syndrome	Female infertility, Streak ovary, Male infertility, Abnormal spermatogenesis, Male hypogonadism, ...	ORPHA:261529
Intellectual Developmental Disorder, Autosomal Dominant 65	Aggressive behavior, Facial hypotonia, Noncommunicating hydrocephalus	OMIM:619320
X-Linked Cerebral Adrenoleukodystrophy	Hamstring contractures, Mental deterioration, Myelopathy, Facial myokymia, Memory impairment, Mal...	ORPHA:139396
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Primary Ciliary Dyskinesia	Hydrocephalus, Female infertility, Male infertility, Ventriculomegaly, Abnormal sperm motility	ORPHA:244
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Ventriculomegaly	OMIM:218350
Posterior Meningocele	Occipital meningocele, Hydrocephalus, Tethered cord, Neural tube defect, Meningocele, Lipomyelome...	ORPHA:268810
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Flexion contracture, Muscular dystrophy	OMIM:615249
Oculocerebrocutaneous Syndrome	Congenital diaphragmatic hernia, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Solitary Bone Cyst	Muscular edema, Abnormality of the spinal cord	ORPHA:83468
Edinburgh Malformation Syndrome	Hydrocephalus	ORPHA:1895
Walker-Warburg Syndrome	Hydrocephalus, Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Ventric...	ORPHA:899
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Anxiety, Dandy-Walker malformation, Camptodactyly	ORPHA:459061
Multiple Sulfatase Deficiency	Hydrocephalus, Ventriculomegaly, Rapid neurologic deterioration, Increased CSF protein	OMIM:272200
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Ventriculomegaly	OMIM:615630
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Spermatogenic Failure, X-Linked, 4	Azoospermia, Male infertility	OMIM:301077
Tenorio Syndrome	Hydrocephalus, Anxiety, Ventriculomegaly, Macroglossia	OMIM:616260
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly	OMIM:602200
Albers-Schönberg Osteopetrosis	Hydrocephalus, Facial palsy	ORPHA:53
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Acute Disseminated Encephalomyelitis	Mental deterioration, Myelitis, Increased CSF protein, Aggressive behavior, CSF lymphocytic pleio...	ORPHA:83597
Trisomy 1Q	Congenital diaphragmatic hernia, Hydrocephalus, Ventriculomegaly, Camptodactyly of finger	ORPHA:261344
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Ciliary Dyskinesia, Primary, 18	Male infertility, Immotile sperm	OMIM:614874
Vacterl Association With Hydrocephalus	Hydrocephalus, Aqueductal stenosis	OMIM:276950
Meckel Syndrome, Type 3	Hydrocephalus, Occipital encephalocele, Dandy-Walker malformation	OMIM:607361
Medulloblastoma	Hydrocephalus, Spinal cord tumor, Irritability, Cognitive impairment	ORPHA:616
Superficial Siderosis	Abnormality of the cerebrospinal fluid, Cognitive impairment, Lower limb muscle weakness, Memory ...	ORPHA:247245
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Dandy-Walker malformation	OMIM:220210
Distal Tetrasomy 15Q	Hydrocephalus, Flexion contracture, Camptodactyly, Syringomyelia, Dandy-Walker malformation	ORPHA:314588
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Ventriculomegaly, Arthrogryposis multiplex congenita, Camptodactyly	OMIM:617822
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Ventriculomegaly, Lower limb hypertonia	ORPHA:2169
Mucopolysaccharidosis, Type Ii	Macroglossia, Hydrocephalus, Cervical cord compression, Flexion contracture	OMIM:309900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly, Muscular dystrophy	OMIM:616538
Ciliary Dyskinesia, Primary, 14	Male infertility, Immotile sperm, Reduced sperm motility	OMIM:613807
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Cole-Carpenter Syndrome 1	Hydrocephalus, Communicating hydrocephalus	OMIM:112240
Bresek Syndrome	Hydrocephalus	ORPHA:85284
Congenital Disorder Of Glycosylation, Type Iil	Hydrocephalus, Ventriculomegaly	OMIM:614576
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Congenital Bilateral Absence Of Vas Deferens	Oligospermia, Obstructive azoospermia, Male infertility	ORPHA:48
Marfanoid-Progeroid-Lipodystrophy Syndrome	Dural ectasia, Hydrocephalus, Lateral ventricular asymmetry, Scapular winging	OMIM:616914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Hydrocephalus, Flexion contracture, Holoprosencephaly, Calf muscle hypertrophy, Congenital muscul...	OMIM:253800
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Ciliary Dyskinesia, Primary, 9	Male infertility	OMIM:612444
Peho Syndrome	Arthrogryposis multiplex congenita, Hydrocephalus, Ventriculomegaly, Flexion contracture	ORPHA:2836
Spinal Arteriovenous Metameric Syndrome	Abnormality of the spinal cord, Spinal arteriovenous malformation	ORPHA:53721
Pontocerebellar Hypoplasia, Type 7	Hydrocephalus, Skeletal muscle atrophy, Ventriculomegaly	OMIM:614969
Trisomy 17P	Macroglossia, Hydrocephalus, Skeletal muscle atrophy, Flexion contracture	ORPHA:261290
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Decreased muscle mass	OMIM:612940
Hydrolethalus	Hydrocephalus, Anencephaly, Arrhinencephaly	ORPHA:2189
Arachnoiditis	Hydrocephalus	ORPHA:137817
Fanconi Anemia, Complementation Group B	Hypergonadotropic hypogonadism, Hydrocephalus, Ventriculomegaly, Hypogonadism	OMIM:300514
Lowry-Maclean Syndrome	Hydrocephalus, Congenital diaphragmatic hernia	ORPHA:2409
Pelvis-Shoulder Dysplasia	Hydrocephalus, Spina bifida, Camptodactyly of finger, Hydranencephaly	ORPHA:2839
Sacral Defect With Anterior Meningocele	Myelomeningocele, Hydrocephalus, Tethered cord, Meningocele, Myeloschisis, Hydromyelia	OMIM:600145
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hydrocephalus	OMIM:616482
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Congenital diaphragmatic hernia	ORPHA:1834
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:60040
3C Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:7
Whipple Disease	Hydrocephalus, Erectile dysfunction, Myositis	ORPHA:3452
Neurofibromatosis Type 2	Hydrocephalus, Myelopathy, Spinal cord tumor, Foot dorsiflexor weakness, Memory impairment, Wrist...	ORPHA:637
Large Congenital Melanocytic Nevus	Hydrocephalus, Rhabdomyosarcoma	ORPHA:626
Genitopalatocardiac Syndrome	Hydrocephalus, Congenital diaphragmatic hernia	ORPHA:2075
Popov-Chang syndrome	Hydrocephalus, Self-injurious behavior	OMIM:618428
Griscelli Syndrome	Hydrocephalus, Encephalocele	ORPHA:381
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Dandy-Walker malformation	OMIM:612582
Multiple Sulfatase Deficiency	Hydrocephalus, Rapid neurologic deterioration	ORPHA:585
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Colpocephaly, Ventriculomegaly, Communicating hydrocephalus	OMIM:615219
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus, Facial paralysis, Facial palsy	OMIM:259700
Glutaryl-Coa Dehydrogenase Deficiency	Subependymal nodules, Cognitive impairment, Communicating hydrocephalus, Ventriculomegaly, Dementia	ORPHA:25
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Hydrocephalus, Joint contracture of the hand, Camptodactyly, Encephalocele	OMIM:224400
1Q44 Microdeletion Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:238769
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Choroid plexus cyst, Hydrocephalus, Ventriculomegaly	OMIM:617866
Thanatophoric Dysplasia Type 1	Hydrocephalus, Ventriculomegaly	ORPHA:1860
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Hydrocephalus, Muscular dystrophy, Ventriculomegaly, Encephalocele, Dandy-Walker malformation	OMIM:614643
Tetrasomy 5P	Hydrocephalus, Aplasia/Hypoplasia of the abdominal wall musculature	ORPHA:3309
Hurler Syndrome	Macroglossia, Hydrocephalus, Progressive neurologic deterioration, Flexion contracture	OMIM:607014
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Dandy-Walker malformation	OMIM:612938
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Pentalogy Of Cantrell	Hydrocephalus, Anencephaly, Congenital diaphragmatic hernia, Encephalocele	ORPHA:1335
Meningioma	Amenorrhea, Hydrocephalus, Impotence, Cognitive impairment, Hypogonadotropic hypogonadism, Facial...	ORPHA:2495
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Male infertility	OMIM:277180
Ciliary Dyskinesia, Primary, 1	Male infertility, Communicating hydrocephalus	OMIM:244400
Cryptococcosis	Hydrocephalus, Prostatitis, Mental deterioration, Memory impairment, Limb muscle weakness	ORPHA:1546
Holoprosencephaly	Hydrocephalus, Congenital diaphragmatic hernia, Holoprosencephaly, Cognitive impairment, Spinal c...	ORPHA:2162
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Holoprosencephaly	ORPHA:77298
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Holoprosencephaly 14	Hydrocephalus, Alobar holoprosencephaly, Aqueductal stenosis, Holoprosencephaly, Ventriculomegaly...	OMIM:619895
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus	OMIM:314390
15Q Overgrowth Syndrome	Hydrocephalus, Contracture of the proximal interphalangeal joint of the 3rd finger, Syringomyelia...	ORPHA:314585
Osteopetrosis, Autosomal Recessive 5	Hydrocephalus, Limb hypertonia, Ventriculomegaly, Facial palsy, Irritability	OMIM:259720
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Fg Syndrome Type 1	Hydrocephalus, Progressive flexion contractures, Ventriculomegaly	ORPHA:93932
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hydrocephalus, Flexion contracture, Encephalocele	ORPHA:1865
Rhombencephalosynapsis	Hydrocephalus, Ventriculomegaly	ORPHA:59315
7Q11.23 Microduplication Syndrome	Hydrocephalus, Self-injurious behavior, Congenital diaphragmatic hernia, Anxiety, Aggressive beha...	ORPHA:96121
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	OMIM:273730
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Torticollis, Normal pressure hydrocephalus, Congenital fibrosis of extraocular muscles, Lateral v...	ORPHA:300570
H Syndrome	Amenorrhea, Hydrocephalus, Camptodactyly, Hypogonadism, Azoospermia	ORPHA:168569
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus	OMIM:614886
Mucopolysaccharidosis, Type Vii	Macroglossia, Hydrocephalus, Flexion contracture	OMIM:253220
Joubert Syndrome With Oculorenal Defect	Hydrocephalus, Encephalocele	ORPHA:2318
Alexander Disease	Hydrocephalus, Self-injurious behavior, Aqueductal stenosis, Emotional lability, Facial palsy	ORPHA:58
Cousin Syndrome	Hydrocephalus, Joint contracture of the hand, Camptodactyly, Wrist flexion contracture, Hydranenc...	OMIM:260660
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrocephalus, Mental deterioration, Memory impairment, Atrophy of the spinal cord, Dementia	ORPHA:79282
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Joubert Syndrome With Renal Defect	Hydrocephalus, Encephalocele	ORPHA:220497
Joubert Syndrome	Hydrocephalus, Encephalocele	ORPHA:475
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus, Flexion contracture, Camptodactyly	OMIM:207410
Limb Body Wall Complex	Myelomeningocele, Diastasis recti, Hydrocephalus, Congenital diaphragmatic hernia, Anencephaly, S...	ORPHA:2369
Lhermitte-Duclos Disease	Hydrocephalus, Macroglossia	ORPHA:65285
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Carnitine Palmitoyltransferase Ii Deficiency	Rhabdomyolysis, Hydrocephalus, Myopathy	ORPHA:157
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Flexion contracture of finger, Abnormality of the spinal cord, Camptodactyly	ORPHA:88628
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly, Congenital diaphragmatic hernia	OMIM:313850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Hydrocephalus, Congenital muscular dystrophy, Ventriculomegaly, Meningoencephalocele, Congenital ...	OMIM:236670
Tessadori-Van Haaften Neurodevelopmental Syndrome 4	Hydrocephalus, Camptodactyly of finger	OMIM:619951
Adams-Oliver Syndrome	Hydrocephalus, Encephalocele	ORPHA:974
Joubert Syndrome With Ocular Defect	Hydrocephalus, Encephalocele	ORPHA:220493
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility	ORPHA:2239
Ciliary Dyskinesia, Primary, 19	Male infertility	OMIM:614935
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus	OMIM:612863
Mucopolysaccharidosis Type 3	Hydrocephalus, Macroglossia, Flexion contracture, Progressive neurologic deterioration, Aggressiv...	ORPHA:581
Endocrine-Cerebroosteodysplasia	Hydrocephalus, Ventriculomegaly, Holoprosencephaly	OMIM:612651
Acrodysostosis 1 With Or Without Hormone Resistance	Hydrocephalus, Irregular menstruation, Hypogonadism	OMIM:101800
Desmosterolosis	Joint contracture of the hand, Hydrocephalus, Ventriculomegaly, Arthrogryposis multiplex congenita	OMIM:602398
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:1812
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus, Elbow flexion contracture, Knee flexion contracture	OMIM:618162
Proteus-Like Syndrome	Hydrocephalus, Communicating hydrocephalus	ORPHA:2969
Icf Syndrome	Macroglossia, Communicating hydrocephalus	ORPHA:2268
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hydrocephalus, Anencephaly, Congenital diaphragmatic hernia	OMIM:616546
Vacterl With Hydrocephalus	Hydrocephalus, Spina bifida, Aqueductal stenosis, Arrhinencephaly	ORPHA:3412
Congenital Sialidosis Type 2	Hydrocephalus	ORPHA:93400
Achondroplasia	Hydrocephalus	ORPHA:15
Coccidioidomycosis	Hydrocephalus, Cognitive impairment, CSF pleocytosis, Hypoglycorrhachia, Increased CSF protein, C...	ORPHA:228123
Mirage Syndrome	Hypergonadotropic hypogonadism, Hydrocephalus	OMIM:617053
Pseudotrisomy 13 Syndrome	Hydrocephalus, Holoprosencephaly, Encephalocele	OMIM:264480
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Congenital diaphragmatic hernia, Hydrocephalus, Elbow flexion contracture, Left ventricular hyper...	OMIM:245600
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:123790
Desmosterolosis	Hydrocephalus, Ventriculomegaly	ORPHA:35107
Amoebiasis Due To Free-Living Amoebae	Abnormality of the cerebrospinal fluid, Myocardial necrosis, Increased CSF protein, CSF lymphocyt...	ORPHA:68
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus	OMIM:601499
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Head-banging, Hydrocephalus, Self-injurious behavior, Dilated third ventricle	OMIM:619575
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hydrocephalus, Self-injurious behavior, Aqueductal stenosis, Anxiety, Arthrogryposis multiplex co...	OMIM:619512
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus	OMIM:239300
Pfeiffer Syndrome Type 2	Hydrocephalus, Aqueductal stenosis	ORPHA:93259
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus, Flexion contracture	OMIM:616007
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus, Dementia	OMIM:277400
Otopalatodigital Syndrome Type 2	Myelomeningocele, Hydrocephalus, Camptodactyly of finger, Encephalocele	ORPHA:90652
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus	OMIM:618590
Joubert Syndrome 2	Hydrocephalus, Enlarged fossa interpeduncularis, Encephalocele	OMIM:608091
Gracile Bone Dysplasia	Hydrocephalus	OMIM:602361
Mucopolysaccharidosis, Type Vi	Macroglossia, Hydrocephalus, Flexion contracture, Cervical myelopathy	OMIM:253200
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Mucopolysaccharidosis Type 2	Flexion contracture of digit, Macroglossia, Cognitive impairment, Mental deterioration, Progressi...	ORPHA:580
Linear Skin Defects With Multiple Congenital Anomalies 1	Chordee, Hydrocephalus, Colpocephaly, Congenital diaphragmatic hernia	OMIM:309801
Split Cord Malformation	Myelomeningocele, Hydrocephalus, Cervical spina bifida, Tethered cord, Spinal cord tumor, Hydromy...	ORPHA:573278
Apert Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:87
Mucopolysaccharidosis Type 1	Abnormal tendon morphology, Hydrocephalus	ORPHA:579
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus	ORPHA:2720
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Dandy-Walker malformation	OMIM:613001
Hurler Syndrome	Hydrocephalus, Camptodactyly of finger, Macroglossia	ORPHA:93473
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Communicating hydrocephalus	ORPHA:1780
Osteopathia Striata With Cranial Sclerosis	Hydrocephalus, Joint contracture of the hand, Spina bifida occulta, Camptodactyly, Flexion contra...	OMIM:300373
Hereditary Amyloidosis With Primary Renal Involvement	Myopathy, Oligospermia, Male infertility, Hypogonadism	ORPHA:85450
Holoprosencephaly 7	Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Semilobar holoprosencephaly	OMIM:610828
Marden-Walker Syndrome	Hydrocephalus, Muscular dystrophy, Camptodactyly of finger, Aplasia/Hypoplasia involving the skel...	ORPHA:2461
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Cardiofaciocutaneous Syndrome 1	Hydrocephalus	OMIM:115150
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Hydrocephalus, Ventriculomegaly, Camptodactyly	ORPHA:1272
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hydrocephalus	ORPHA:1555
Opitz-Kaveggia Syndrome	Multiple joint contractures, Hydrocephalus, Joint contracture of the hand, Camptodactyly	OMIM:305450
Stromme Syndrome	Hydrocephalus, Myopathy	OMIM:243605
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Anxiety	ORPHA:250989
Androgen Insensitivity Syndrome	Male infertility	ORPHA:754
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Shprintzen-Goldberg Craniosynostosis Syndrome	Hydrocephalus, Joint contracture of the hand, Camptodactyly	OMIM:182212
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus	ORPHA:3301
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Torticollis, Hydrocephalus, Irritability, Cognitive impairment, Anxiety, Suicidal ideation, Aggre...	OMIM:619475
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Mosaic Variegated Aneuploidy Syndrome 1	Hydrocephalus, Rhabdomyosarcoma, Ventriculomegaly, Dandy-Walker malformation	OMIM:257300
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Congenital diaphragmatic hernia	ORPHA:268249
Monosomy 18Q	Hydrocephalus	ORPHA:1600
Mend Syndrome	Hydrocephalus, Aggressive behavior, Dandy-Walker malformation, Limb hypertonia	ORPHA:401973
Joubert Syndrome With Hepatic Defect	Hydrocephalus, Occipital encephalocele	ORPHA:1454
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Macroglossia, Hydrocephalus, Flexion contracture	ORPHA:505248
Monosomy 9Q22.3	Hydrocephalus, Rhabdomyosarcoma, Ventriculomegaly	ORPHA:77301
Koolen-De Vries Syndrome Due To A Point Mutation	Hydrocephalus, Hand muscle atrophy, Anxiety, Dural ectasia, Ventriculomegaly, Spina bifida	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hydrocephalus, Hand muscle atrophy, Anxiety, Dural ectasia, Ventriculomegaly, Spina bifida	ORPHA:363958
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hydrocephalus, Flexion contracture, Oligospermia, Primary amenorrhea, Camptodactyly, Elbow flexio...	ORPHA:95699
Neurofibromatosis, Type I	Hydrocephalus, Spina bifida, Rhabdomyosarcoma, Aqueductal stenosis	OMIM:162200
Jacobsen Syndrome	Hydrocephalus, Flexion contracture, Holoprosencephaly	OMIM:147791
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Short-Rib Thoracic Dysplasia 12	Hydrocephalus, Anencephaly, Holoprosencephaly	OMIM:269860
Marshall-Smith Syndrome	Hydrocephalus, Cervical cord compression, Ventriculomegaly	OMIM:602535
Cerebrooculonasal Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Encephalocele	OMIM:605627
Raine Syndrome	Hydrocephalus, Arthrogryposis multiplex congenita	OMIM:259775
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hydrocephalus, Ventriculomegaly	ORPHA:228308
Fanconi Anemia	Hydrocephalus, Decreased fertility in males, Ventriculomegaly, Hypogonadism, Azoospermia, Spina b...	ORPHA:84
Craniopharyngioma	Hypogonadotropic hypogonadism, Hydrocephalus, Hypogonadism	ORPHA:54595
Cardiofaciocutaneous Syndrome	Hydrocephalus	ORPHA:1340
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus, Abnormality of the musculature of the limbs	ORPHA:137667
Basal Cell Nevus Syndrome	Hydrocephalus, Spina bifida	OMIM:109400
Shprintzen-Goldberg Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Camptodactyly of finger, Ventriculomegaly, ...	ORPHA:2462
Dubowitz Syndrome	Hydrocephalus, Spina bifida occulta	ORPHA:235
Mohr Syndrome	Hydrocephalus	OMIM:252100
Acrofacial Dysostosis 1, Nager Type	Hydrocephalus, Aqueductal stenosis	OMIM:154400
Alpha-Mannosidosis, Infantile Form	Macroglossia, Anxiety, Communicating hydrocephalus, Facial hypotonia, Myopathy	ORPHA:309282
Osteootohepatoenteric Syndrome	Hydrocephalus	OMIM:619377
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Facial hypotonia, Ventriculomegaly	ORPHA:457284
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Complete Androgen Insensitivity Syndrome	Primary amenorrhea, Male infertility	ORPHA:99429
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation, Cervicitis	ORPHA:722
Dextrocardia	Hydrocephalus	ORPHA:1666
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Hydrocephalus, Flexion contracture, Hypogonadism, Myopathy	ORPHA:3042
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Torticollis, Multiple joint contractures, Hydrocephalus	ORPHA:536467
Apert Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:101200
Cockayne Syndrome A	Hip contracture, Normal pressure hydrocephalus, Irregular menstruation, Ventriculomegaly, Hypogon...	OMIM:216400
Pituitary Deficiency Due To Rathke Cleft Cysts	Hypogonadotropic hypogonadism, Hydrocephalus	ORPHA:91350
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Otopalatodigital Syndrome, Type Ii	Hydrocephalus	OMIM:304120
Semilobar Holoprosencephaly	Hydrocephalus, Apathy, Flexion contracture, Anxiety, Neural tube defect, Irritability	ORPHA:220386
Alobar Holoprosencephaly	Hydrocephalus, Apathy, Flexion contracture, Anxiety, Neural tube defect, Irritability	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Hydrocephalus, Apathy, Flexion contracture, Anxiety, Neural tube defect, Irritability	ORPHA:93926
Lobar Holoprosencephaly	Hydrocephalus, Apathy, Flexion contracture, Anxiety, Neural tube defect, Irritability	ORPHA:93924
22Q11.2 Deletion Syndrome	Hydrocephalus, Anxiety, Arrhinencephaly, Meningocele, Spina bifida, Occipital myelomeningocele	ORPHA:567
Hajdu-Cheney Syndrome	Hydrocephalus, Syringomyelia	ORPHA:955
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Irregular menstruation, Primary amenorrhea, Male infertility, Male hypogonadism, Decreased fertility	ORPHA:90793
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus	OMIM:104350
Kabuki Syndrome	Congenital diaphragmatic hernia, Hydrocephalus, Ventriculomegaly	ORPHA:2322
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Partial Androgen Insensitivity Syndrome	Azoospermia, Primary amenorrhea, Male sexual dysfunction, Male infertility	ORPHA:90797
Fanconi Anemia, Complementation Group D2	Hypergonadotropic hypogonadism, Hydrocephalus	OMIM:227646
Meckel Syndrome, Type 1	Hydrocephalus, Camptodactyly of finger, Dilated fourth ventricle, Anencephaly, Ventriculomegaly, ...	OMIM:249000
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus	ORPHA:220295
Trisomy 8P	Multiple joint contractures, Hydrocephalus, Dandy-Walker malformation	ORPHA:264450
Tetrasomy 9P	Infertility, Hydrocephalus, Oligospermia, Myositis, Abnormality of the spinal cord, Dandy-Walker ...	ORPHA:3310
Orofaciodigital Syndrome I	Myelomeningocele, Hydrocephalus	OMIM:311200
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Hydrocephalus, Ventriculomegaly	OMIM:617011
Osteogenesis Imperfecta	Hydrocephalus, Flexion contracture, Noncommunicating hydrocephalus, Ventriculomegaly, Syringomyelia	ORPHA:666
Campomelic Dysplasia	Contracture of the distal interphalangeal joint of the fingers, Spinal dysraphism, Hydrocephalus,...	OMIM:114290
Sturge-Weber Syndrome	Hydrocephalus	ORPHA:3205
Distal 22Q11.2 Microduplication Syndrome	Camptodactyly of toe, Hydrocephalus, Camptodactyly of finger, Macroglossia	ORPHA:261337
Smith-Lemli-Opitz Syndrome	Hydrocephalus, Holoprosencephaly, Self-mutilation, Aggressive behavior, Colpocephaly, Dandy-Walke...	OMIM:270400
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hydrocephalus, Holoprosencephaly, Encephalocele	ORPHA:2166
Chilton-Okur-Chung Neurodevelopmental Syndrome	Chordee, Self-injurious behavior, Aplasia of the right hemidiaphragm, Limb hypertonia, Anxiety, C...	OMIM:619841
Lenz-Majewski Hyperostotic Dwarfism	Facial palsy, Hydrocephalus, Hypogonadism	ORPHA:2658
Lymphangioleiomyomatosis	Hydrocephalus, Cognitive impairment	ORPHA:538
Knobloch Syndrome	Hydrocephalus, Occipital encephalocele	ORPHA:1571
Meckel Syndrome	Hydrocephalus, Anencephaly, Encephalocele, Lobar holoprosencephaly, Dandy-Walker malformation	ORPHA:564
Isotretinoin-Like Syndrome	Hydrocephalus	ORPHA:2306
Fetal Akinesia Deformation Sequence 1	Generalized amyotrophy, Hydrocephalus, Camptodactyly of finger, Arthrogryposis multiplex congenita	OMIM:208150
Hereditary Cryohydrocytosis With Reduced Stomatin	Hypoglycorrhachia, Communicating hydrocephalus	ORPHA:168577
Pseudoaminopterin Syndrome	Posterolateral diaphragmatic hernia, Hydrocephalus	ORPHA:221120
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