Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal brain morphology Cfap57em1(IMPC)Mbp HOM Early adult 0.00
decreased exploration in new environment Cfap57em1(IMPC)Mbp HOM   Early adult 7.82×10-05
hydrocephaly Cfap57em1(IMPC)Mbp HOM Early adult 0.00
male infertility Cfap57em1(IMPC)Mbp HOM Early adult 0.00
abnormal spinal cord morphology Cfap57em1(IMPC)Mbp HOM Early adult 0.00
abnormal skeletal muscle morphology Cfap57em1(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.



4 Images

Human diseases caused by Cfap57 mutations

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

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

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

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

Disease Similarity of
Matching phenotypes Source
Craniofacial Conodysplasia
Hydrocephalus, Spinal cord compression ORPHA:85168
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Trapezius muscle aplasia, Hydrocephalus OMIM:600257
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
Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
1Q21.1 Microduplication Syndrome
Hydrocephalus, Arthrogryposis multiplex congenita ORPHA:250994
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
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
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
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
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
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
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
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
Hydrocephalus, Anencephaly, Arrhinencephaly ORPHA:2189
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
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
Hydrocephalus, Prostatitis, Mental deterioration, Memory impairment, Limb muscle weakness ORPHA:1546
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
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
Hydrocephalus, Ventriculomegaly, Holoprosencephaly OMIM:612651
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus, Irregular menstruation, Hypogonadism OMIM:101800
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
Hydrocephalus ORPHA:15
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
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
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
Hydrocephalus, Dandy-Walker malformation, Cervicitis ORPHA:722
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
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
Oeis Complex