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Gene: Cfap54 MGI:1922208

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
cilia and flagella associated protein 54
Synonyms:
Gm872,  4930485B16Rik,  LOC380653

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No 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.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Cfap54 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 Cfap54 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Ciliary Dyskinesia, Primary, 34
Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, A... OMIM:617091
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Ciliary Dyskinesia, Primary, 11
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Abnormal central mic... OMIM:612649
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Ciliary Dyskinesia, Primary, 45
Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Chronic rhi... OMIM:618801
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... OMIM:616481
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Nasal polyposis, Bronchiectasis, Decreased nasal nitric oxide, Coiled sperm fla... OMIM:620197
Ciliary Dyskinesia, Primary, 18
Male infertility, Neonatal respiratory distress, Absent inner dynein arms, Absent outer dynein ar... OMIM:614874
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Ciliary Dyskinesia, Primary, 13
Absent inner dynein arms, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Infertility, ... OMIM:613193
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Ciliary Dyskinesia, Primary, 6
Sinusitis, Absent/shortened outer dynein arms, Abnormal ciliary motility, Recurrent sinusitis, Ci... OMIM:610852
Ciliary Dyskinesia, Primary, 14
Male infertility, Neonatal respiratory distress, Absent inner dynein arms, Rhinorrhea, Cough, Whe... OMIM:613807
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Nasal polyposis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini... OMIM:242670
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:215520
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Ciliary Dyskinesia, Primary, 26
Neonatal respiratory distress, Absent outer dynein arms, Bronchiectasis, Decreased nasal nitric o... OMIM:615500
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Ciliary Dyskinesia, Primary, 9
Male infertility, Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Bronchiecta... OMIM:612444
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Ciliary Dyskinesia, Primary, 12
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... OMIM:612650
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Ciliary Dyskinesia, Primary, 15
Neonatal respiratory distress, Nasal polyposis, Cough, Wheezing, Abnormal axonemal organization o... OMIM:613808
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Reduced respiratory ciliary beating frequency, Ab... OMIM:618300
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Ciliary Dyskinesia, Primary, 28
Neonatal respiratory distress, Dynein arm defect of respiratory motile cilia, Decreased nasal nit... OMIM:615505
Ciliary Dyskinesia, Primary, 19
Male infertility, Nasal polyposis, Bronchiectasis, Absent inner and outer dynein arms, Immotile c... OMIM:614935
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage... OMIM:301101
Ciliary Dyskinesia, Primary, 10
Ciliary dyskinesia, Chronic sinusitis, Abnormal respiratory motile cilium morphology, Recurrent s... OMIM:612518
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Ciliary Dyskinesia, Primary, 22
Neonatal respiratory distress, Nasal polyposis, Bronchiectasis, Decreased nasal nitric oxide, Abs... OMIM:615444
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Ciliary Dyskinesia, Primary, 16
Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Ciliary dy... OMIM:614017
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Bronchiectasis, Decreased nasal nitric oxide, Ab... OMIM:618063
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis, Infertility OMIM:615872
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Nasal polyposis, Bronchiectasis, Absent inner and outer dynein a... OMIM:606763
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:225050
Ciliary Dyskinesia, Primary, 17
Dynein arm defect of respiratory motile cilia, Bronchiectasis, Chronic rhinitis, Cough, Ciliary d... OMIM:614679
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Ciliary Dyskinesia, Primary, 30
Nasal polyposis, Absent outer dynein arms, Asthma, Bronchiectasis, Respiratory insufficiency, Dec... OMIM:616037
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Respiratory ... OMIM:608647
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Abnormal respiratory motile cili... ORPHA:922
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent pneumonia, Bro... OMIM:620032
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Micropenis, Lateral ventricle dilatation OMIM:300982
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Cryptorchidism, Lateral ventricle dilatation OMIM:616816
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Ciliary Dyskinesia, Primary, 25
Neonatal respiratory distress, Productive cough, Chronic pulmonary obstruction, Recurrent pneumon... OMIM:615482
Spermatogenic Failure 17
Male infertility OMIM:617214
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Ciliary Dyskinesia, Primary, 1
Male infertility, Communicating hydrocephalus, Nasal polyposis, Pneumonia, Absent outer dynein ar... OMIM:244400
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Restrictive ventilatory defect... OMIM:611884
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... ORPHA:399808
Moderate Hemophilia A
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... ORPHA:169805
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
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
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis,... OMIM:615294
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly OMIM:604213
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Familial Cervical Artery Dissection
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... ORPHA:36382
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... ORPHA:98878
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Ventriculomegaly, Moyamoya phenomenon ORPHA:401986
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Ciliary Dyskinesia, Primary, 27
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Rhinitis, Respirator... OMIM:615504
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Ciliary Dyskinesia, Primary, 3
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis,... OMIM:608644
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Oligozoospermia OMIM:615703
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Martsolf Syndrome 2
Lateral ventricle dilatation, Hypogonadotropic hypogonadism OMIM:619420
Hemiparkinsonism-Hemiatrophy Syndrome
Neonatal asphyxia, Lateral ventricle dilatation ORPHA:306669
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation, Premature ovarian insufficiency OMIM:615889
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Pseudo-Torch Syndrome 2
Ventriculomegaly, Acute respiratory distress syndrome, Cerebral hemorrhage, Patent ductus arterio... OMIM:617397
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324703
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Ciliary dyskinesia OMIM:616726
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Ventriculomegaly, Aspiration pneumonia OMIM:616430
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory insufficiency due to muscle weakness, Subdural hemorrhage, Lateral ven... OMIM:618291
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Dilation of Virchow-Robin spaces, Lateral ventricle dila... OMIM:619517
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation, Respiratory insufficiency OMIM:617668
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... ORPHA:3002
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Ciliary Dyskinesia, Primary, 20
Productive cough, Absent outer dynein arms, Recurrent pneumonia, Bronchiectasis, Decreased fertil... OMIM:615067
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Neonatal respiratory distress, Hydrocephalus OMIM:266100
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... ORPHA:331
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Hydrocephalus, S... ORPHA:97339
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Partial agenesis of the corpus callosum, Increased CSF lactate, Ag... ORPHA:79243
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Circumvallate Placenta Syndrome
Intracranial hemorrhage, Respiratory insufficiency OMIM:215550
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Apnea, Subependymal cysts, Cardiomyopathy, Lateral ventricle dilatation, In... OMIM:600721
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Pontocerebellar Hypoplasia, Type 1A
Lateral ventricle dilatation, Respiratory insufficiency, Intercostal muscle weakness OMIM:607596
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Apnea, Subependymal cysts, Lateral ventricle dilatation, Bradycard... OMIM:610015
Retinitis Pigmentosa 6
Immotile cilia OMIM:312612
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr... ORPHA:90065
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Re... OMIM:300991
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324708
X-Linked Intellectual Disability, Wilson Type
Hydrocele testis, Lateral ventricle dilatation ORPHA:85290
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Lateral ventricle dilatation OMIM:618330
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocele testis, Intraventricular hemorrhage, Hydrocephalus, Ventriculomegaly OMIM:613603
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... ORPHA:136
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:618736
Joubert Syndrome 3
Central apnea, Enlarged fossa interpeduncularis, Episodic tachypnea, Lateral ventricle dilatation... OMIM:608629
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Azoospermia, Ischemic stroke, Coronary... ORPHA:280679
Brain Small Vessel Disease 2
Intracranial hemorrhage, Ventriculomegaly OMIM:614483
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Hydrocephalus, Asthma, Oligozoospermia, Azoospermi... ORPHA:8
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:300573
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Vascular dilatation, Lateral ventricle dilatation OMIM:602200
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Familial Afibrinogenemia
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding ORPHA:98880
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... ORPHA:53719
Craniosynostosis 6
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:616602
Cach Syndrome
Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Gonadal dysgenesis, La... ORPHA:135
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Patent ductus arteriosus, Recurrent pneumonia, Lateral ventricle dilata... OMIM:617751
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral cavernous malformation OMIM:116860
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cryptorchidism, Micropenis, Respiratory failure, Lateral ventricle dilatation OMIM:619847
Pontocerebellar Hypoplasia, Type 13
Asthma, Lateral ventricle dilatation, Dandy-Walker malformation, Pleural effusion OMIM:618606
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Sneddon Syndrome
Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage OMIM:182410
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Cardiorespiratory arrest, Gingival b... ORPHA:99828
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Hydrocephalus OMIM:619302
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cryptorchidism, Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum OMIM:619244
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Ciliary dyskinesia ORPHA:1882
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Intraventricular hemorrhage, Neonatal asphyxia, Recurrent... ORPHA:420741
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Apneic episodes in infancy, Dandy-Walker ... ORPHA:3078
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... OMIM:273800
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Cerebral hemorrhage OMIM:300049
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Koolen-De Vries Syndrome Due To A Point Mutation
Testicular neoplasm, Spina bifida, Cryptorchidism, Intraventricular hemorrhage, Hydrocephalus, Ca... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Testicular neoplasm, Spina bifida, Cryptorchidism, Intraventricular hemorrhage, Hydrocephalus, Ca... ORPHA:363958
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Tetralogy of Fallot ORPHA:250994
Erythrocytosis, Familial, 1
Hypertension, Cerebral hemorrhage, Myocardial infarction, Exertional dyspnea OMIM:133100
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Respiratory distress, Tricuspid regurgitation, Patent ductus arteri... OMIM:612863
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode, Right aortic arch, Hypertension... OMIM:300845
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation ORPHA:284417
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation OMIM:615716
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time, Increased CSF lactate OMIM:619055
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation OMIM:221770
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... ORPHA:774
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Developmental And Epileptic Encephalopathy 36
Abnormal bleeding, Hydrocephalus OMIM:300884
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... ORPHA:91348
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Patent ductus arteriosus, Frontal encephalocele, Hydrocephalus, Aortic aneurysm ORPHA:261102
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension OMIM:263400
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Aspiration, Lateral ventricle dilatation, Dilation of Virchow-Robin spaces ORPHA:2148
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation OMIM:256850
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:94080
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly OMIM:304100
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Apnea, Antenatal intracerebral hemorrhage, Dilated cardiomyopathy,... OMIM:608836
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Transient ischemic attack, CSF pleocytosis, Intracranial hemorrhage, Stroke,... ORPHA:140989
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial... ORPHA:449285
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilation of Virchow-Robin spaces, Bilateral cryptorchidism, Dysplastic corpus callosum, Asthma, L... ORPHA:544488
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation OMIM:617854
Kleeblattschaedel
Hydrocephalus OMIM:148800
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage ORPHA:79284
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Coach Syndrome 2
Hypertension, Hydrocephalus, Apneic episodes in infancy, Agenesis of corpus callosum OMIM:619111
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Lateral ventricle dilatation ORPHA:565624
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... ORPHA:464321
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy ORPHA:100006
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus ORPHA:398189
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum ORPHA:1528
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation OMIM:614105
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:300200
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:613154
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation, Dextrotransposition of the great arteries OMIM:619995
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation OMIM:617296
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Respiratory insufficiency, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Acys Amyloidosis
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy ORPHA:100008
Pseudo-Torch Syndrome 3
Hypertension, Apnea, Cerebral hemorrhage, Respiratory insufficiency OMIM:618886
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage OMIM:263300
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Lateral ventricle dilatation, Hi... OMIM:300952
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Cog5-Cdg
Cryptorchidism, Micropenis, Lateral ventricle dilatation ORPHA:263487
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Respiratory insufficiency, Dandy-Walker malformation, Agenesis of corpus callosum,... OMIM:613153
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Slc35A2-Cdg
Precocious puberty, Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:356961
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly ORPHA:488627
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Asthma, Abnormal respiratory system ... ORPHA:330015
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation, Pulmonic stenosis OMIM:618914
Cocaine Intoxication
Prolonged QT interval, Respiratory distress, Tachycardia, Prolonged QRS complex, Myocardial infar... ORPHA:90068
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Dandy-Walker malformation, Chronic lung disease, Apnea, Tachypnea, Menin... ORPHA:397715
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... OMIM:177850
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... OMIM:202400
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:618577
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation OMIM:620075
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Dilation of Virchow-Robin spaces, Agenesis of corpus ca... OMIM:619955
Fried Syndrome
Hydrocephalus ORPHA:85335
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Congenital Disorder Of Glycosylation, Type Iig
Cryptorchidism, Lateral ventricle dilatation, Hypospadias OMIM:611209
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Noonan Syndrome 14
Cryptorchidism, Lateral ventricle dilatation OMIM:619745
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:2182
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage OMIM:616507
Primary Ciliary Dyskinesia
Ventriculomegaly, Nasal polyposis, Neonatal respiratory distress, Productive cough, Hydrocephalus... ORPHA:244
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... ORPHA:853
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Agenesis of the anterior commissure, Partial agenesis of the corpus callosum, Normal pressure hyd... ORPHA:300570
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... OMIM:616034
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Aspergillosis
Sinusitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnormality on pulmonary fu... ORPHA:1163
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure, Hydrocephalus OMIM:300886
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Agenesis of corpus callosum, ... OMIM:207950
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Vascular dilatation, Patent ductus arteriosus, Hydrocephalus, Aortic va... OMIM:220220
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi... ORPHA:465
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Agenesis of corpus callosum, Ventriculom... OMIM:218350
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Episodic tachypnea, Hydrocephalus, Apneic episodes in infancy, Dandy-Walker malformation, Ventric... ORPHA:163961
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Lateral ventricle dilatation, Left superior vena cava draining to coronary s... ORPHA:464738
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Cardiomyopathy, Lateral ventricle dilatation, Ventriculomegaly ORPHA:572798
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Weaver Syndrome
Hydrocele testis, Cryptorchidism, Lateral ventricle dilatation, Ventriculomegaly OMIM:277590
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Ventriculomegaly, Meningocele, Dandy-Walker malformation ORPHA:2481
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Choroid plexus cyst, Glandular hypospadias, Abnormal preputium morp... ORPHA:293725
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Cerebral hemorrhage, Subdural hemorrhage, Respiratory failure, Chylothorax OMIM:620278
Bainbridge-Ropers Syndrome
Precocious puberty, Cryptorchidism, Lateral ventricle dilatation OMIM:615485
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... OMIM:620300
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Chronic sinusitis, Decreased nasal nitric oxide, Cough OMIM:619607
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:175700
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... ORPHA:91387
Thanatophoric Dysplasia Type 2
Encephalocele, Patent ductus arteriosus, Hydrocephalus, Respiratory insufficiency, Holoprosenceph... ORPHA:93274
Distal Deletion 10Q
Patent ductus arteriosus, Spina bifida occulta, Lateral ventricle dilatation ORPHA:96148
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Bilateral... ORPHA:90797
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Patent ductus arteriosus, Hydrocephalus ORPHA:1516
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Mosaic Trisomy 1
Pulmonary artery atresia, Lateral ventricle dilatation, Agenesis of corpus callosum, Coarctation ... ORPHA:1692
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Neonatal respiratory distress, Hypospadias, Lateral ventricle dilatation, Micropenis, Ventriculom... OMIM:619479
Gabriele-De Vries Syndrome
Cryptorchidism, Lateral ventricle dilatation OMIM:617557
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Tracheoesophageal fistula, Holoprosencep... ORPHA:77298
Aicardi-Goutieres Syndrome 9
Pericarditis, Portal hypertension, Hypertension, Lateral ventricle dilatation, Increased blood pr... OMIM:619487
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Hydrocephalus ORPHA:83473
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Hematochezia, Lateral ventricle dilatation, Dilated third ventricle, Peripheral pu... OMIM:619575
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:276621
Central Precocious Puberty In Male
Hydrocephalus, Abnormality of the testis size ORPHA:649929
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Familial Multiple Nevi Flammei
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... ORPHA:624
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydrocephalus ORPHA:251046
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly ORPHA:272
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Hydrocephalus OMIM:615599
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus ORPHA:2183
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Respiratory failure, Respiratory insufficiency OMIM:276950
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypertension, Dandy-Walker ma... OMIM:614424
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Den Hoed-De Boer-Voisin Syndrome
Lateral ventricle dilatation, Ventriculomegaly OMIM:619229
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Cardiomyopathy, Hydrocephalus OMIM:613155
Pituitary Dermoid And Epidermoid Cysts
Oligozoospermia, Hypogonadism, Oligomenorrhea, Amenorrhea ORPHA:91351
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Lateral ventricle dilatation ORPHA:457279
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation OMIM:612301
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Thanatophoric Dysplasia
Patent ductus arteriosus, Respiratory insufficiency, Hydrocephalus, Ventriculomegaly ORPHA:2655
Hydrolethalus
Cryptorchidism, Hydrocephalus, Anencephaly, Agenesis of corpus callosum, Tracheal atresia ORPHA:2189
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Bronchiectasis, Noncommunicating hydrocephalus, ... OMIM:618699
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Lateral ventricle dilatation, Hypogonadotropic hypogonadism, External genit... ORPHA:177907
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:109120
Hydranencephaly
Antenatal intracerebral hemorrhage, Abnormal internal carotid artery morphology, Dilatation of th... ORPHA:2177
Myotonic Dystrophy 2
Hypogonadism, Oligozoospermia OMIM:602668
Mirage Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Intracranial hemorrhage, Aspiration pneu... OMIM:617053
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Myelomeningocele, Respiratory insufficiency ORPHA:1914
Aicardi Syndrome
Spina bifida, Partial agenesis of the corpus callosum, Recurrent pneumonia, Choroid plexus cyst, ... OMIM:304050
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Prolonged bleeding time, Respiratory failure, Bruising susceptibility ORPHA:3226
Hogue-Janssen Syndrome 2
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:616362
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Ventricul... OMIM:225790
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... ORPHA:99429
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele, Respiratory insufficiency, Cardiomyopathy, Arrhyt... ORPHA:2119
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly OMIM:620156
Cerebral Visual Impairment
Intracranial hemorrhage, Hydrocephalus, Ischemic stroke ORPHA:447788
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Dextrotransposition of the great art... OMIM:618619
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Hellp Syndrome
Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Pleural effusion, Internal hemorrhage ORPHA:244242
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis ORPHA:2701
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Cardiomyopathy, Agenesis of cor... ORPHA:370959
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... OMIM:171300
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Lateral ventricle dilatation ORPHA:2822
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:29072
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Reduced forced expiratory vo... OMIM:613686
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hydrocephalus OMIM:269920
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage ORPHA:49566
Capillary Malformation-Arteriovenous Malformation
Abnormal bleeding, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformati... ORPHA:137667
Myopathy, Centronuclear, X-Linked
Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Cryptorchidism... OMIM:310400
Edinburgh Malformation Syndrome
Hydrocephalus, Respiratory insufficiency ORPHA:1895
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Tempi Syndrome
Intracranial hemorrhage, Transudative pleural effusion, Hypoxemia, Telangiectasia ORPHA:284227
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus, Respiratory insufficiency ORPHA:93262
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Oligozoospermia, Oligomenorrhea, Infertility, Ambiguous genitalia, Female pse... ORPHA:786
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Ventriculomegaly OMIM:609757
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... OMIM:615219
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation, Recurrent pneumonia, Upper airway obstruction, Respiratory insuffic... OMIM:614098
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus ORPHA:171839
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Hydrocephalus ORPHA:2181
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Gapo Syndrome
Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea ORPHA:2067
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:403
Meningioma
Cerebral hemorrhage, Progressive pulmonary function impairment, Hydrocephalus, Abnormality on pul... ORPHA:2495
Osteogenesis Imperfecta
Aortic regurgitation, Neonatal respiratory distress, Cerebral hemorrhage, Hydrocephalus, Noncommu... ORPHA:666
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Respiratory insufficiency due to muscle weakness, Hydrocephalus, Agenesis of corpus callosum OMIM:615249
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Subarachnoid hemorrhage, Asthma, Recurrent pneumonia, Bronchiectasis, Recurr... OMIM:243700
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage, Subependymal nodules, Ventr... ORPHA:25
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Heart murmur, Respiratory insufficiency,... ORPHA:163979
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... ORPHA:494424
Propionic Acidemia
Cardiomyopathy, Cerebellar hemorrhage, Tachypnea, Apnea OMIM:606054
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:404
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Pul... ORPHA:1908
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Hydrocephalus, Cerebral ischemia, Arteriovenous malformation, Arrhyth... ORPHA:60040
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Respiratory insufficiency, Coarctation of aorta, Colpocephaly, Mitral s... OMIM:617260
Emanuel Syndrome
Ventriculomegaly, Truncus arteriosus, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Pu... ORPHA:96170
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus OMIM:601794
Temple Syndrome
Cryptorchidism, Hydrocephalus ORPHA:254516
Joubert Syndrome With Renal Defect
Encephalocele, Apnea, Hydrocephalus, Agenesis of corpus callosum, Abnormal pattern of respiration ORPHA:220497
Nephronophthisis 18
Hypertension, Hydrocephalus OMIM:615862
Crouzon Syndrome
Hydrocephalus, Respiratory insufficiency ORPHA:207
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Micropenis, Lateral ventricle dilatation OMIM:263520
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Double outlet right ventricle, Pulmonic stenosis, Aortic valve stenosis, Tetralogy... OMIM:220210
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Pneumonia, Chronic pulmonary obstruction, Olig... ORPHA:125
Lethal Congenital Contracture Syndrome 5
Subdural hemorrhage, Retinal hemorrhage, Respiratory insufficiency OMIM:615368
Halperin-Birk Syndrome
Colpocephaly, Aspiration, Agenesis of corpus callosum, Ventriculomegaly, Semilobar holoprosencephaly OMIM:618651
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:251274
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, Partial agenesis of the corpus callosum, Hydrocephalus, Respiratory insufficiency... OMIM:210710
Kyphoscoliotic Ehlers-Danlos Syndrome
Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Bruising susceptibility, Antenatal in... ORPHA:536545
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Pericarditis, Hydrocephalus ORPHA:163596
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Diabetic Embryopathy
Cryptorchidism, Hydrocephalus, Spinal dysraphism, Abnormal aortic morphology, Transposition of th... ORPHA:1926
Tenorio Syndrome
Apnea, Raynaud phenomenon, Hydrocephalus, Recurrent pneumonia, Syncope, Ventriculomegaly OMIM:616260
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:619833
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Patent ductus arteriosus, Respiratory failure, Lateral ventricle dilatation OMIM:300868
Helsmoortel-Van Der Aa Syndrome
Cryptorchidism, Lateral ventricle dilatation, Ventriculomegaly OMIM:615873
Trisomy 1Q
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Agenesis of corpus callosum, Ventriculom... ORPHA:261344
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... ORPHA:369929
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Oral cavity bleeding, Menorrhagi... ORPHA:324636
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Respiratory insufficiency, Transposition of... OMIM:253800
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Mitral regurgitation, Hydrocephalus, Ventriculomegaly, Vascular ring OMIM:603387
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Cryptorchidism, Respiratory insufficiency ORPHA:1237
Emanuel Syndrome
Ventriculomegaly, Truncus arteriosus, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Pu... OMIM:609029
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Hypophosphatasia, Infantile
Intracranial hemorrhage, Apnea OMIM:241500
Hemorrhagic Fever-Renal Syndrome
Shock, Respiratory distress, Tachycardia, Epistaxis, Pneumonia, Hematemesis, Dyspnea, Capillary l... ORPHA:340
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Tetraamelia-Multiple Malformations Syndrome
Tracheal stenosis, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum ORPHA:3301
Joubert Syndrome With Ocular Defect
Encephalocele, Apnea, Hydrocephalus, Agenesis of corpus callosum, Abnormal pattern of respiration ORPHA:220493
1Q44 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:238769
Chromosome 6Pter-P24 Deletion Syndrome
Patent ductus arteriosus, Hydrocephalus, Telangiectasia, Tetralogy of Fallot, Agenesis of corpus ... OMIM:612582
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Dyspnea, Abnormal lymphatic vessel morphology,... ORPHA:464329
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Sinusitis, Epistaxis, Sudden cardia... ORPHA:906
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... ORPHA:2184
Developmental And Epileptic Encephalopathy 31B
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620352
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Partial agenesis of the corpus c... OMIM:619895
Cutis Laxa, Autosomal Recessive, Type Iib
Prominent superficial veins, Bruising susceptibility, Agenesis of corpus callosum, Hydrocephalus OMIM:612940
B4Galt1-Cdg
Abnormal bleeding, Hydrocephalus, Dandy-Walker malformation ORPHA:79332
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Temple Syndrome
Cryptorchidism, Hydrocephalus, Decreased testicular size OMIM:616222
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation ORPHA:459061
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory failure ORPHA:1861
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Transient ischemic attack, Dysplastic corpus callosum, Patent ductus arteriosus after birth at te... ORPHA:500150
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Patent ductus arteriosus, Tetralogy of Fallot, Lateral ventricle dilata... OMIM:619869
Thanatophoric Dysplasia Type 1
Patent ductus arteriosus, Respiratory insufficiency, Hydrocephalus, Ventriculomegaly ORPHA:1860
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus OMIM:241800
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Pneumonia, Raynaud phenomenon, Vasculitis, Hypertension, V... ORPHA:1855
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... ORPHA:90793
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Cardiomyopathy, Cerebellar hemorrhage OMIM:251000
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Hydrocephalus, Tracheoesophageal fistula, Coarctation of aorta, Ventric... OMIM:300514
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Neonatal Lupus Erythematosus
Abnormal bleeding, Prolonged QT interval, Heart block, Hydrocephalus, Dilated cardiomyopathy, Atr... ORPHA:398124
Tetrasomy 15Q26
Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, Dandy-Walker malformation OMIM:614846
Kabuki Syndrome 1
Premature thelarche, Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation, Anoperineal fis... OMIM:147920
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Tracheoesophageal fistula, Coarctation of aorta, Tracheomalacia, Agenesis of corpu... ORPHA:268249
Whipple Disease
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hydrocephalus, Res... ORPHA:3452
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Patent ductus arteriosus, Partial agenesis of the corpus callosum, Colpocephaly, Pulmonary artery... OMIM:620113
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Colpocephaly, Ventriculomegaly ORPHA:261250
Isovaleric Acidemia
Cerebellar hemorrhage OMIM:243500
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Encephalocele, Portal hypertension, Hydrocephalus, Arteriovenous mal... ORPHA:974
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad... ORPHA:95699
Scalp-Ear-Nipple Syndrome
Supraventricular tachycardia, Hypertension, Lateral ventricle dilatation, Congestive heart failure OMIM:181270
Fetal Gaucher Disease
Intracranial hemorrhage ORPHA:85212
Developmental And Epileptic Encephalopathy 49
Dysplastic corpus callosum, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Bresek Syndrome
Cryptorchidism, Hydrocephalus, Decreased testicular size ORPHA:85284
Stormorken Syndrome
Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Bruising susceptibility OMIM:185070
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Tracheoesophageal fistula, Hydrocephalus, Persistent left superior vena cava, Transposition of th... OMIM:314390
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Hypertrophic cardiomyopathy, Dandy-Walke... OMIM:612938
Menkes Disease
Intracranial hemorrhage OMIM:309400
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal... OMIM:175780
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Oligozoospermia OMIM:614813
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Patent ductus arteriosus, Hydrocephalus, Ventriculomegaly OMIM:614576
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect OMIM:243440
Intellectual Developmental Disorder, Autosomal Dominant 65
Agenesis of corpus callosum, Noncommunicating hydrocephalus OMIM:619320
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum,... OMIM:613001
Hemangioblastoma
Hydrocephalus ORPHA:252054
Superficial Siderosis
Abnormal bleeding, Enlarged sylvian cistern, Increased CSF protein concentration, Subarachnoid he... ORPHA:247245
Walker-Warburg Syndrome
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Ventriculo... ORPHA:899
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation OMIM:618476
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Respiratory insuff... OMIM:232300
Joubert Syndrome
Encephalocele, Apnea, Episodic tachypnea, Hydrocephalus, Abnormal pattern of respiration ORPHA:475
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:611134
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly, Vascular dilatation OMIM:219730
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Parkes Weber Syndrome
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... ORPHA:90307
Rhombencephalosynapsis
Hydrocephalus, Tracheoesophageal fistula, Ventriculomegaly ORPHA:59315
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Pontocerebellar Hypoplasia, Type 7
Cryptorchidism, Hydrocephalus, Apnea, Ventriculomegaly OMIM:614969
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Neonatal respiratory distress, Heart block, Hydrocephalus, Cardiomyopathy, Arrhythmia, Agenesis o... ORPHA:228308
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Prolonged QRS complex, Apnea, Left axis deviation, Congestive heart failure... OMIM:261740
Gorlin Syndrome
Cryptorchidism, Hydrocephalus ORPHA:377
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Stroke, Apnea, Ventriculomegaly ORPHA:395
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:1812
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus, Retinal telangiectasia OMIM:620157
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Apert Syndrome
Hydrocephalus, Respiratory insufficiency, Hypertension, Agenesis of corpus callosum, Ventriculome... ORPHA:87
Tetrasomy 5P
Respiratory distress, Congestive heart failure, Hydrocephalus, Heart murmur, Pulmonary arterial h... ORPHA:3309
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Respiratory failure, Ventriculomegaly OMIM:616538
Carnitine Palmitoyltransferase Ii Deficiency
Neonatal respiratory distress, Hydrocephalus, Cardiomyopathy, Arrhythmia, Agenesis of corpus call... ORPHA:157
Czeizel-Losonci Syndrome
Spina bifida, Hydrocephalus, Myelomeningocele, Tracheoesophageal fistula, Spina bifida occulta ORPHA:2437
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum OMIM:609053
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Congestive heart failure, Hydrocephalus, Respiratory failure... OMIM:616482
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Methylcobalamin Deficiency Type Cble
Hypertension, Hydrocephalus, Ventriculomegaly ORPHA:2169
Oculocerebrocutaneous Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
3C Syndrome
Ventriculomegaly, Hydrocephalus, Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot, D... ORPHA:7
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Subarachnoid hemorrhage, Hydrocephalus, Holopros... ORPHA:2356
Alkuraya-Kucinskas Syndrome
Pleural effusion, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617822
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Tachypnea, Apnea ORPHA:2318
Pseudotrisomy 13 Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Coarctation of aorta, Holoprosencephaly, Agenesis o... OMIM:264480
Thakker-Donnai Syndrome
Communicating hydrocephalus, Tracheoesophageal fistula, Transposition of the great arteries, Tetr... ORPHA:1780
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation OMIM:618367
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrh... ORPHA:79282
Triploidy
Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Hydrocephalus, Asthma, Dilated third ventricle, Ventriculomegaly ORPHA:500055
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Cryptorchidism, Patent ductus arteriosus, Dilated cardiomyopathy, H... OMIM:607872
Cystic Fibrosis
Male infertility, Nasal polyposis, Reduced forced expiratory volume in one second, Reduced forced... OMIM:219700
Sturge-Weber Syndrome
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Hydroceph... ORPHA:3205
Medulloblastoma
Cerebellar hemorrhage, Hydrocephalus ORPHA:616
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... ORPHA:99901
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Dysplastic corpus callosum, Uterus didelphys, Gonadal ... OMIM:618820
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hydrocephalus, Hypertension, Agenesis of corpus callosum, Ventriculomegaly OMIM:123790
Mucopolysaccharidosis, Type Ii
Congestive heart failure, Hydrocephalus, Recurrent pneumonia, Asthma, Tracheobronchomalacia, Airw... OMIM:309900
Arachnoiditis
Hydrocephalus ORPHA:137817
Thanatophoric Dysplasia, Type I
Neonatal respiratory distress, Hydrocephalus OMIM:187600
Achondroplasia
Hypoxemia, Restrictive ventilatory defect, Hydrocephalus ORPHA:15
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Cryptorchidism, Hydrocephalus, Dilation of Virchow-Robin spaces OMIM:619951
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hydrocephalus, Hypoplasia of the uterus, Colpocephaly, Chordee, Micropeni... OMIM:309801
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hemoper... ORPHA:99827
Desmosterolosis
Hydrocephalus, Patent ductus arteriosus, Partial agenesis of the corpus callosum, Total anomalous... OMIM:602398
Desmosterolosis
Patent ductus arteriosus, Hydrocephalus, Anomalous pulmonary venous return, Agenesis of corpus ca... ORPHA:35107
Fg Syndrome Type 1
Cryptorchidism, Hydrocephalus, Coarctation of aorta, Pulmonary arterial hypertension, Ventriculom... ORPHA:93932
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Joubert Syndrome 2
Central apnea, Enlarged fossa interpeduncularis, Encephalocele, Episodic tachypnea, Hydrocephalus... OMIM:608091
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert... OMIM:619534
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Emphysema, Intracranial hemorrhage, Hypertension, Mitral regurgitation,... ORPHA:363618
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Patent ductus arteriosus, Double outlet right ventricle OMIM:614886
Classic Homocystinuria
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... ORPHA:394
Alexander Disease
Sudden cardiac death, Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Hypertension... ORPHA:58
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Hydrocephalus, Respiratory insufficiency ORPHA:1865
Congenital Sialidosis Type 2
Abnormal EKG, Hydrocephalus, Telangiectasia, Cherry red spot of the macula, Petechiae ORPHA:93400
Rabin-Pappas Syndrome
Tracheomalacia, Hypoventilation, Hydrocephalus, Retinal telangiectasia OMIM:620155
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism,... ORPHA:3260
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Hydrocephalus ORPHA:91350
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus, Respiratory distress, Tracheomalacia ORPHA:93259
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus, Dandy-Wa... OMIM:614643
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Hydrocephalus OMIM:259710
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Agenesis of corpus callosum, ... OMIM:257300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:613150
Griscelli Syndrome
Encephalocele, Hydrocephalus ORPHA:381
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hypertension, Hydrocephalus, Cryptorchidism ORPHA:1555
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Tracheoesophageal fistula ORPHA:1834
Muenke Syndrome
Hydrocephalus ORPHA:53271
Lowry-Maclean Syndrome
Bilateral cryptorchidism, Hydrocephalus, Coarctation of aorta ORPHA:2409
Multiple Sulfatase Deficiency
Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly OMIM:272200
15Q Overgrowth Syndrome
Tricuspid regurgitation, Hydrocephalus, Mitral regurgitation, Pulmonary arterial hypertension, Ag... ORPHA:314585
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Trisomy 17P
Patent ductus arteriosus, Aortic valve stenosis, Hydrocephalus ORPHA:261290
Congenital Disorder Of Glycosylation, Type Iim
Hypertension, Lateral ventricle dilatation OMIM:300896
Coccidioidomycosis
Respiratory distress, Pericarditis, Pneumonia, CSF pleocytosis, Hydrocephalus, Vasculitis, CSF ly... ORPHA:228123
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Asthma, Patent ductus arteriosus, Hydrocephalus, Bruising susceptibility OMIM:618162
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformation, Subcutaneou... ORPHA:109
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Respiratory insufficiency, Bradycardia, Normal pressure hydrocephalus OMIM:620351
Distal Triplication 15Q
Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, Hydrocele testis, Dandy-Walker ... ORPHA:314588
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Cryptorchidism, Patent ductus arteriosus, Cerebral hemorrhage OMIM:616682
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Interrupted aortic arch, Agenesis of cor... ORPHA:250989
Endocrine-Cerebroosteodysplasia
Cryptorchidism, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:612651
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
H Syndrome
Hydrocephalus, Abnormal cardiovascular system physiology, Bronchiectasis, Varicose veins, Azoospe... ORPHA:168569
Proteus-Like Syndrome
Venous insufficiency, Hydrocephalus, Communicating hydrocephalus ORPHA:2969
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Dyspnea, Hydrocephalus, Pneumothorax, Restrictive ventilatory defect... ORPHA:538
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Apnea, Portal hypertension, Hydrocephalus, Abnormal pattern of respiration ORPHA:1454
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus, Hypertension, Aortic root aneurysm, Bruising suscep... OMIM:616914
Monosomy 18Q
Left-to-right shunt, Bilateral cryptorchidism, Left aortic arch with right descending aorta and r... ORPHA:1600
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Cryptorchidism, Colpocephaly, Penile hypospadias, Hypospadias OMIM:620083
Marshall-Smith Syndrome
Apnea, Bilateral cryptorchidism, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Prematu... OMIM:602535
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Tachycardia, Tricuspid regurgitation, Congestive heart failure, Patent duct... ORPHA:505248
Mucopolysaccharidosis Type 1
Sinusitis, Apnea, Congestive heart failure, Hydrocephalus, Cough, Hypertrophic cardiomyopathy ORPHA:579
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Respiratory distress, Patent ductus arteriosus, Stroke, Ventriculome... OMIM:618188
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Thoracic aortic aneurysm, Repeated pneumothoraces, Hydrocephalus, Respirato... ORPHA:536467
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Cryptorchidism, Hydrocephalus, Meningoencephalocele, Dandy-Walker malfor... OMIM:236670
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... OMIM:615287
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hydrocephalus OMIM:601499
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Hypospadias, Septate vagina, Cryptorchidism, Hydrocele testis, Lateral ventricle d... ORPHA:261537
Holoprosencephaly 13, X-Linked
Alobar holoprosencephaly, Patent ductus arteriosus, Colpocephaly, Double outlet right ventricle, ... OMIM:301043
Mucopolysaccharidosis, Type Vi
Tricuspid regurgitation, Pneumonia, Hydrocephalus, Cardiomyopathy, Mitral regurgitation, Restrict... OMIM:253200
Carney Complex
Ovarian dermoid cyst, Sertoli cell neoplasm, Abnormal sperm motility, Testicular neoplasm, Precoc... ORPHA:1359
Tetrasomy 9P
Cryptorchidism, Hydrocephalus, Oligozoospermia, Infertility, Pulmonary arterial hypertension, Mic... ORPHA:3310
Lateral Meningocele Syndrome
Cryptorchidism, Patent ductus arteriosus, Meningocele, Hydrocephalus, Aortic aneurysm OMIM:130720
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Cryptorchidism, Colpocephaly, Agenesis of corpus callosum, Clitoral hypertrophy OMIM:614866
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Tracheoesophageal fistula, Bruising susc... OMIM:227646
Vacterl With Hydrocephalus
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Tracheoesophageal fistula ORPHA:3412
Neurooculorenal Syndrome
Aqueductal stenosis, Cryptorchidism, Partial agenesis of the corpus callosum, Hydrocephalus, Tetr... OMIM:620305
Isotretinoin-Like Syndrome
Patent ductus arteriosus, Hydrocephalus, Abnormal aortic arch morphology, Conotruncal defect, Abn... ORPHA:2306
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Colpocephaly, Chordee, Hypospadias ORPHA:477993
Tarp Syndrome
Tetralogy of Fallot, Subdural hemorrhage OMIM:311900
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Dilation of Virchow-Robin spaces, Aqueductal stenosis, Cryptorchidism, Partial agenesis of the co... OMIM:619512
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Upper airway obstruction OMIM:207410
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Abnormal respiratory system physiology, In... ORPHA:90062
Genitopalatocardiac Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2075
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension, Testicular adrenal rest tumor ORPHA:90795
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Fetal intraventricular hemorrhage OMIM:618480
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Choreoacanthocytosis
Lateral ventricle dilatation, Dilated cardiomyopathy ORPHA:2388
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Hypoplastic aortic arch, Agenesis of corpus callosum, Ventriculomegaly ORPHA:457284
Dextrocardia
Abnormal EKG, Hydrocephalus, T-wave inversion, Congenital malformation of the great arteries ORPHA:1666
Achondroplasia
Respiratory distress, Hydrocephalus, Upper airway obstruction OMIM:100800
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Hypospadias, Septate vagina, Cryptorchidism, Hydrocele testis, Lateral ventricle d... ORPHA:261552
Mucopolysaccharidosis, Type Vii
Cardiomyopathy, Hydrocephalus, Airway obstruction OMIM:253220
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Menkes Disease
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp... ORPHA:565
Apert Syndrome
Overriding aorta, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:101200
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Aqueductal stenosis, Patent ductus arteriosus, Hypoplastic aortic arch, Hyd... OMIM:306955
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus OMIM:224400
Khan-Khan-Katsanis Syndrome
Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Colpocephaly, Bilateral ... OMIM:618460
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block, Hydrocephalus OMIM:618590
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Mitral stenosis, Angina pectoris, Left ventricular systolic dysfunction, My... ORPHA:740
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Pentalogy Of Cantrell
Encephalocele, Hydrocephalus, Tetralogy of Fallot, Anencephaly ORPHA:1335
Hurler Syndrome
Angina pectoris, Hydrocephalus, Cardiomyopathy, Hypertension, Rhinitis ORPHA:93473
Osteopathia Striata With Cranial Sclerosis
Apnea, Patent ductus arteriosus, Partial agenesis of the corpus callosum, Hydrocephalus, Tracheom... OMIM:300373
Short-Rib Thoracic Dysplasia 12
Patent ductus arteriosus, Hydrocephalus, Anencephaly, Respiratory insufficiency, Holoprosencephaly OMIM:269860
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Respiratory failure, Ventriculomegaly OMIM:259720
Cryptococcosis
Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Cough, Pleural effusion ORPHA:1546
Holoprosencephaly
Encephalocele, Cryptorchidism, Hydrocephalus, Respiratory insufficiency, Spinal dysraphism, Abnor... ORPHA:2162
Osteootohepatoenteric Syndrome
Asthma, Hydrocephalus OMIM:619377
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Holoprosencephaly 7
Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Lobar holoprose... OMIM:610828
Thoracoabdominal Syndrome
Hydrocephalus, Patent ductus arteriosus, Anencephaly, Transposition of the great arteries OMIM:313850
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
7Q11.23 Microduplication Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Tracheomalacia, Aortic valve stenosis, V... ORPHA:96121
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Crouzon Syndrome
Hydrocephalus OMIM:123500
Fraser Syndrome 3
Hydrocephalus, Tracheal atresia OMIM:617667
Hurler Syndrome
Aortic regurgitation, Cardiomyopathy, Mitral regurgitation, Hydrocephalus OMIM:607014
Stromme Syndrome
Hydrocephalus, Agenesis of corpus callosum OMIM:243605
Chromosome 17P13.1 Deletion Syndrome
Hydrocele testis, Hydrocephalus, Spina bifida OMIM:613776
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Trisomy 8P
Dandy-Walker malformation, Cryptorchidism, Hydrocephalus, Heart murmur, Tetralogy of Fallot, Agen... ORPHA:264450
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Cryptorchidism, Patent ductu... OMIM:249000
Gaucher Disease, Type Iiic
Hydrocephalus, Mitral stenosis, Calcification of the aorta OMIM:231005
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Spontaneous pneumothorax, Arterial tortuosity, Descending thoracic aorta an... OMIM:610168
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Apnea, Cryptorchidism, Mitral regurgitation, Ventriculomegaly ORPHA:2462
Opitz-Kaveggia Syndrome
Cryptorchidism, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:305450
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Iniencephaly
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Cockayne Syndrome Type 3
Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Aortic root aneurysm, Stroke, Increased ... ORPHA:90324
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Hypospadias, Septate vagina, Precocious puberty, Cryptorchidism, Pa... OMIM:270400
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Tricuspid regurgitation, Dyspnea, Hydrocephalus, Dilated cardiomyopathy, Hy... ORPHA:2556
Fanconi Anemia
Spina bifida, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Tracheoesophageal fistula,... ORPHA:84
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus, Telangiectasia of the skin OMIM:616007
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Patent ductus arteriosus, Hydrocephalus OMIM:104350
Cardiofaciocutaneous Syndrome 1
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis OMIM:115150
Cardiofaciocutaneous Syndrome
Cryptorchidism, Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis ORPHA:1340
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Dubowitz Syndrome
Cryptorchidism, Hydrocephalus, Asthma, Respiratory insufficiency, Spina bifida occulta ORPHA:235
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2378
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:616546
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Arteriosclerosis, Hydrocephalus ORPHA:220295
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Spina bifida, Retinal arteriolar tortuosity, Cryptorchidism, Patent ... ORPHA:567
Alobar Holoprosencephaly
Central apnea, Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Aspiration pne... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Aspiration pne... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Aspiration pne... ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Aspiration pne... ORPHA:220386
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus, Aortic aneurysm OMIM:182212
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Mucopolysaccharidosis Type 3
Hydrocephalus, Atrioventricular block, Upper airway obstruction, Reduced left ventricular ejectio... ORPHA:581
Aymé-Gripp Syndrome
Pericarditis, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Ventriculomegaly ORPHA:1272
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Aortic root aneurysm, Hydrocephalus OMIM:245600
Orofaciodigital Syndrome I
Hydrocephalus, Myelomeningocele, Hypertension, Agenesis of corpus callosum, Vascular dilatation OMIM:311200
Cerebrooculonasal Syndrome
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:605627
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Hydrocephalus, Calcification of the aorta, Varicose veins, Azoo... ORPHA:2072
Acute Transverse Myelitis
Orthostatic hypotension, Subarachnoid hemorrhage, CSF pleocytosis, Hypertension, Hypoglycorrhachi... ORPHA:139417
Loeys-Dietz Syndrome 1
Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Hydrocephalus,... OMIM:609192
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Hydrocephalus OMIM:101800
Nelson Syndrome
Intracranial hemorrhage, Hypertension, Testicular neoplasm ORPHA:199244
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Autosomal Recessive Malignant Osteopetrosis
Apnea, Pulmonary artery stenosis, Hydrocephalus, Chronic rhinitis, Pulmonary arterial hypertensio... ORPHA:667
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Costello Syndrome
Hydrocephalus, Pneumothorax, Respiratory insufficiency, Respiratory failure, Arrhythmia, Pulmonic... OMIM:218040
Witteveen-Kolk Syndrome
Intracranial hemorrhage, Dysplastic corpus callosum, Unilateral cryptorchidism, Ventriculomegaly OMIM:613406
Mohr Syndrome
Hydrocephalus OMIM:252100
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Monosomy 9Q22.3
Hydrocephalus, Ventriculomegaly ORPHA:77301
Gaucher Disease
Abnormal bleeding, Hydrocephalus, Respiratory insufficiency, Pulmonary arterial hypertension, Gin... ORPHA:355
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly ORPHA:2166
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Atrial fibrillation, Thoracic aortic aneurysm, Subarachnoid hemorrhag... OMIM:613795
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract OMIM:600145
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Emphysema, Arterial tortuosity, Patent ductus ar... OMIM:619472
Otopalatodigital Syndrome Type 2
Encephalocele, Hydrocephalus, Myelomeningocele ORPHA:90652
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Pneumonia, Cardiac conduction abnormality, Cryptorchidism,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Pneumonia, Cardiac conduction abnormality, Cryptorchidism,... ORPHA:353277
Fanconi Anemia, Complementation Group L
Hydrocephalus, Tracheoesophageal fistula OMIM:614083
Holoprosencephaly 9
Holoprosencephaly, Cryptorchidism, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:610829
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Knobloch Syndrome
Occipital encephalocele, Patent ductus arteriosus, Hydrocephalus ORPHA:1571
Dpagt1-Cdg
Intracranial hemorrhage, Prolonged QT interval, Stroke-like episode ORPHA:86309
Jacobsen Syndrome
Cryptorchidism, Hydrocephalus, Holoprosencephaly OMIM:147791
Kabuki Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Coarctation of aorta ORPHA:2322
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Hydrocephalus, Spinal d... OMIM:114290
Craniopharyngioma
Hydrocephalus, Cerebral ischemia, Myocardial infarction ORPHA:54595
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Cardiomyopathy OMIM:616084
Genitopatellar Syndrome
Small scrotum, Enlarged labia minora, Cryptorchidism, Colpocephaly, Labial hypoplasia, Micropenis... OMIM:606170
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension, Renal artery stenosis OMIM:162200
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Mend Syndrome
Cryptorchidism, Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation ORPHA:401973
Marden-Walker Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:2461
Mend Syndrome
Cryptorchidism, Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum ORPHA:2658
Tuberous Sclerosis Complex
Respiratory distress, Noncommunicating hydrocephalus, Hypertension, Pulmonary lymphangiomyomatosi... ORPHA:805
Fontaine Progeroid Syndrome
Prominent superficial veins, Tricuspid regurgitation, Cryptorchidism, Patent ductus arteriosus, H... OMIM:612289
Yunis-Varon Syndrome
Cryptorchidism, Hydrocephalus, Renovascular hypertension, Hypertension, Cardiomyopathy, Renal art... ORPHA:3472
Raine Syndrome
Hydrocephalus OMIM:259775
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Congestive heart failure, Hydrocephalus, Heart murmur, Dilatation of the ce... OMIM:619475
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Patent ductus arteriosus, Tetralogy of Fallot, Hydrocephalus OMIM:154400
6Q Terminal Deletion Syndrome
Colpocephaly, Hypospadias, Phimosis ORPHA:75857
Meckel Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker ... ORPHA:564
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Epistaxis, Cryptorchidism, Patent ductus arteriosus, Asthma, Cephalo... OMIM:619841
Hajdu-Cheney Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus OMIM:102500
Hajdu-Cheney Syndrome
Patent ductus arteriosus, Aortic valve stenosis, Mitral stenosis, Hydrocephalus ORPHA:955
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Mitral regurgitation, Pneumonia, Communicating hydrocephalus ORPHA:309282
Distal 22Q11.2 Microduplication Syndrome
Cryptorchidism, Patent ductus arteriosus, Tricuspid regurgitation, Hydrocephalus ORPHA:261337
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Peripheral arterial stenosis, Upper airway obstruction, Cardiomyopat... ORPHA:580
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia ORPHA:168577
Cockayne Syndrome A
Cryptorchidism, Hypertension, Normal pressure hydrocephalus, Arrhythmia, Persistent left superior... OMIM:216400
Microphthalmia With Limb Anomalies
Venous insufficiency, Cryptorchidism, Hydrocephalus ORPHA:1106
Hydrolethalus Syndrome 1
Anencephaly, Severe hydrocephalus, Tracheal stenosis, Agenesis of corpus callosum, Dandy-Walker m... OMIM:236680
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Subdural hemorrhage OMIM:619714
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation ORPHA:722
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Pneumonia, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Dan... OMIM:264090
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Ventriculomegaly OMIM:617011
Limb Body Wall Complex
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta ORPHA:2369
Noonan Syndrome 1
Male infertility, Hypospadias, Cryptorchidism, Hypogonadism, Chylothorax OMIM:163950
Wolf-Hirschhorn Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:194190
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus ORPHA:637
Alström Syndrome
Respiratory distress, Precocious puberty in females, Hypergonadotropic hypogonadism, Testicular f... ORPHA:64
Pseudoaminopterin Syndrome
Cryptorchidism, Hydrocephalus ORPHA:221120
Simpson-Golabi-Behmel Syndrome, Type 1
Neonatal respiratory distress, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Cardiomyo... OMIM:312870
Focal Dermal Hypoplasia
Cryptorchidism, Hydrocephalus, Myelomeningocele, Telangiectasia, Spina bifida occulta, Agenesis o... OMIM:305600
Neurofibromatosis Type 1
Hypertension, Hydrocephalus, Arterial stenosis, Cryptorchidism ORPHA:636
Cockayne Syndrome B
Hypertension, Arrhythmia, Normal pressure hydrocephalus, Cryptorchidism OMIM:133540
Fraser Syndrome 1
Encephalocele, Cryptorchidism, Hydrocephalus, Myelomeningocele OMIM:219000
Peters Plus Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Abnormal pulmonary vein morphology, Pulm... ORPHA:709
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Hydrocephalus, Mitral regurgitation, Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:363700
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Ventriculomegaly ORPHA:457359
Otopalatodigital Syndrome, Type Ii
Spina bifida, Cryptorchidism, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Dila... OMIM:304120
Baller-Gerold Syndrome
Hydrocephalus, Spina bifida occulta, Agenesis of corpus callosum OMIM:218600
Peters-Plus Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Pulmonic stenosis, Agenesis of corpus ca... OMIM:261540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly OMIM:253280
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Decreased testicular size OMIM:619321
Oeis Complex
Cryptorchidism, Hydrocephalus, Myelomeningocele OMIM:258040
Townes-Brocks Syndrome 1
Cryptorchidism, Hydrocephalus, Tracheoesophageal fistula, Holoprosencephaly, Tetralogy of Fallot OMIM:107480
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, Hydrocephalus OMIM:208150
Split Cord Malformation
Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Meningocele ORPHA:573278
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Agenesis of corpus callosum ORPHA:3455
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Hydrocephalus ORPHA:3042
Tetraamelia Syndrome 1
Hydrocephalus OMIM:273395
Pmm2-Cdg
Respiratory distress, Pericarditis, Angina pectoris, Intracranial hemorrhage, Aspiration pneumoni... ORPHA:79318
Coffin-Siris Syndrome 12
Cryptorchidism, Tetralogy of Fallot, Noncommunicating hydrocephalus, Heart murmur OMIM:619325
Exstrophy-Epispadias Complex
Cryptorchidism, Hydrocephalus, Spina bifida ORPHA:322
Craniofacial Microsomia 1
Occipital encephalocele, Patent ductus arteriosus, Hydrocephalus, Coarctation of aorta, Right aor... OMIM:164210
Roberts-Sc Phocomelia Syndrome
Cryptorchidism, Patent ductus arteriosus, Frontal encephalocele, Hydrocephalus OMIM:268300

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cfap54

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cfap54.

No publications found that use IMPC mice or data for Cfap54.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cfap54tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Cfap54tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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