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Gene: Cfap206 MGI:1916579

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Gene Summary

Name:
cilia and flagella associated protein 206
Synonyms:
1700003M02Rik

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
female infertility Cfap206em1(IMPC)Mbp HOM Early adult 0.00
male infertility Cfap206em1(IMPC)Mbp HOM Early adult 0.00
cataract Cfap206em1(IMPC)Mbp HET   Early adult 6.14×10-08

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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MicroCT E18.5

Embryo reconstruction

4 Images

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Human diseases caused by Cfap206 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 Cfap206 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Cataract 29
Cataract OMIM:115800
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Spermatogenic Failure 17
Male infertility OMIM:617214
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
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
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
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
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
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 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
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 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
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 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 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 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
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
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
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
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
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
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Cataract 44
Developmental cataract OMIM:616509
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
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
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Nondisjunction
Decreased fertility OMIM:158250
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Trichomegaly
Cataract OMIM:190330
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Cataract 42
Cataract, Developmental cataract OMIM:115900
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... ORPHA:399808
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Cataract 7
Developmental cataract OMIM:115660
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
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
Cortical Dysplasia, Complex, With Other Brain Malformations 14B (Bilateral Perisylvian)
Enlarged sylvian cistern, Perisylvian polymicrogyria OMIM:615752
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:615938
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus, Wide nasal bridge OMIM:209970
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:615937
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Galactosemia Iv
Cataract OMIM:618881
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Nathalie Syndrome
Cataract ORPHA:2663
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Porencephaly
Ventriculomegaly ORPHA:2940
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Bowen-Conradi Syndrome
Cryptorchidism, Ventriculomegaly, Prominent nose ORPHA:1270
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the pons, Hypoplasia of the brainstem, Lissencephaly, Periventricular ribbonlike he... OMIM:618677
Cerebral Palsy, Spastic Quadriplegic, 2
Ventriculomegaly OMIM:612900
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism, Ventriculomegaly ORPHA:1568
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Microcephaly 19, Primary, Autosomal Recessive
Extra-axial cerebrospinal fluid accumulation, Simplified gyral pattern, Ventriculomegaly OMIM:617800
Lissencephaly 1
Subcortical band heterotopia, Gray matter heterotopia, Hypoplasia of the brainstem, Lissencephaly... OMIM:607432
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Hypoplasia of the brainstem, Simplified gyral pattern, Ventriculomegaly OMIM:615763
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Simplified gyral pattern, Ventriculomegaly ORPHA:329228
Cataract 47
Microcornea, Cataract OMIM:612018
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Oligozoospermia OMIM:615703
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Enlarged sylvian cistern, Gray matter heterotopia, Pachygyria, Agyria, Ventriculomegaly ORPHA:1084
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Respiratory failure, Respiratory insufficiency OMIM:276950
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:604213
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration, Ventriculomegaly OMIM:618709
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Polymicrogyria, Bilateral Temporooccipital
Polymicrogyria, Ventriculomegaly OMIM:612691
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Cataract 41
Nuclear cataract OMIM:116400
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Macrocephaly, Acquired, With Impaired Intellectual Development
Narrow nasal bridge, Anteverted nares, Unilateral cryptorchidism, Ventriculomegaly OMIM:618286
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Proximal Myotonic Myopathy
Cataract ORPHA:606
Spastic Paraplegia 88, Autosomal Dominant
Hypoplasia of the brainstem, Ventriculomegaly OMIM:620106
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Microlissencephaly
Subcortical heterotopia, Pneumonia, Periventricular heterotopia, Simplified gyral pattern, Lissen... ORPHA:1083
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Galactosemia Ii
Cataract OMIM:230200
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Polymicrogyria, Ventriculomegaly ORPHA:171703
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Hypoplasia of the brainstem, Lissencephaly, Pachygyria, Polymicrogyria, Ventriculomegaly OMIM:618730
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Leukoencephalopathy With Vanishing White Matter 4
Ventriculomegaly, Primary amenorrhea, Secondary amenorrhea OMIM:620314
X-Linked Retinoschisis
Cataract ORPHA:792
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Dermoids Of Cornea
Corneal opacity OMIM:304730
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis, Prominent nasal bridge, Abnormality of the uterus ORPHA:1788
Pettigrew Syndrome
Prominent nose, Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly OMIM:304340
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Holoprosencephaly 14
Ventriculomegaly, Anteverted nares, Proboscis, Alobar holoprosencephaly, Aqueductal stenosis, Per... OMIM:619895
Pfeiffer Syndrome Type 2
Respiratory distress, Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Hydrocephalus... ORPHA:93259
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Neonatal respiratory distress, Hydrocephalus OMIM:266100
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Olivopontocerebellar Atrophy-Deafness Syndrome
Ventriculomegaly ORPHA:2732
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... OMIM:600348
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Hypospadias ORPHA:250994
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Pfeiffer Syndrome Type 1
Aqueductal stenosis, Short nose, Depressed nasal bridge ORPHA:93258
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Type II lissencephaly, Ventriculomegaly OMIM:614830
Corpus Callosum Agenesis-Neuronopathy Syndrome
Aqueductal stenosis ORPHA:1496
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Lissencephaly 3
Agyria, Periventricular laminar heterotopia, Gray matter heterotopia, Hypoplasia of the brainstem... OMIM:611603
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Wide nasal bridge, Ventriculomegaly ORPHA:3207
Microcephaly, Seizures, And Developmental Delay
Simplified gyral pattern, Ventriculomegaly OMIM:613402
Congenital Hydrocephalus
Abnormal cortical gyration, Bulbous nose, Hydrocephalus, Colpocephaly, Lissencephaly, Ventriculom... ORPHA:2185
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
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
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Hypoplasi... ORPHA:352682
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele ORPHA:261102
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Biemond Syndrome Type 2
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism, Hypospadias ORPHA:141333
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Short nose, Hypoplastic femal... OMIM:618577
Holoprosencephaly 5
Syntelencephaly, Anteverted nares, Depressed nasal bridge, Alobar holoprosencephaly, Hydrocephalu... OMIM:609637
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bicornuate uterus OMIM:258320
Pfeiffer Syndrome Type 3
Respiratory distress, Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Tracheomalaci... ORPHA:93260
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Microcephaly-Micromelia Syndrome
Aqueductal stenosis, Wide nose, Simplified gyral pattern, Convex nasal ridge OMIM:251230
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism ORPHA:2183
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Respiratory insufficiency, Respiratory failure, Increased CSF protein concentratio... OMIM:611722
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Galloway-Mowat Syndrome
Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration ORPHA:2065
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Hypoplasia of the brainstem, Ventriculomegaly OMIM:616486
Vacterl With Hydrocephalus
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Abnormal fallopian tube morphology ORPHA:3412
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Simpson-Golabi-Behmel Syndrome, Type 2
Neonatal respiratory distress, Recurrent upper respiratory tract infections, Ventriculomegaly OMIM:300209
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus OMIM:300886
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Aqueductal stenosis ORPHA:3035
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Developmental And Epileptic Encephalopathy 97
Ventriculomegaly OMIM:619561
Microcephaly 17, Primary, Autosomal Recessive
Bulbous nose, Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Ventricu... OMIM:617090
Ventriculomegaly And Arthrogryposis
Ventriculomegaly OMIM:619501
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Ventriculomegaly ORPHA:1980
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Gómez-López-Hernández Syndrome
Hydrocephalus, Abnormal brainstem morphology, Anteverted nares ORPHA:1532
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal nasal morphology, Hydrocephalus, Polymicrogyria, Depressed nasal bridge ORPHA:83473
Kleeblattschaedel
Hydrocephalus OMIM:148800
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Microcephaly 27, Primary, Autosomal Dominant
Cryptorchidism, Simplified gyral pattern, Extra-axial cerebrospinal fluid accumulation, Micropeni... OMIM:619180
Nathalie Syndrome
Cataract OMIM:255990
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Cryptorchidism, Bulbous nose, Wide nasal bridge, Respiratory insuffi... ORPHA:1237
Multiple Mitochondrial Dysfunctions Syndrome 5
Pachygyria, Ventriculomegaly OMIM:617613
Intellectual Developmental Disorder, Autosomal Recessive 69
Ventriculomegaly OMIM:618383
Lissencephaly, X-Linked, 2
Prominent nasal bridge, Wide anterior fontanel, Wide nasal bridge, Lissencephaly, Ambiguous genit... OMIM:300215
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Type II lissencephaly, Ventriculomegaly ORPHA:324416
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Narrow nasal ridge, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Hypoplasia of the pons, B... OMIM:619512
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Masa Syndrome
Ventriculomegaly ORPHA:2466
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Bonnemann-Meinecke-Reich Syndrome
Ventriculomegaly ORPHA:1261
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism OMIM:601794
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract OMIM:611544
Developmental And Epileptic Encephalopathy 70
Cryptorchidism, Ventriculomegaly OMIM:618298
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Immotile sperm, Abnormal central microtubular pair morphology of respirat... OMIM:612650
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Macdermot-Winter Syndrome
Ventriculomegaly, Hypoplastic male external genitalia OMIM:247990
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Central Precocious Puberty In Male
Hydrocephalus, Abnormality of the testis size, Precocious puberty in males ORPHA:649929
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612649
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Ventriculomegaly OMIM:619323
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Anteverted nares OMIM:300884
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Ventriculomegaly OMIM:613925
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
17P13.3 Microduplication Syndrome
Wide nose, Hypoplasia of penis, Short nose, Ventriculomegaly ORPHA:217385
Neurooculorenal Syndrome
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Hypoplasia of the pons, Polymicrogyria, Ventr... OMIM:620305
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Simplified gyral pattern OMIM:619470
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Ventriculomegaly ORPHA:500166
Pontocerebellar Hypoplasia, Type 15
Simplified gyral pattern, Hypoplasia of the brainstem, Hydrocephalus OMIM:619302
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Respiratory insufficiency, CSF lymphocytic pleiocytosis, Convex nasal ridge, Ventr... OMIM:610333
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Simplified gyral ... OMIM:613153
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... ORPHA:8
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Hy... OMIM:615191
Microcephaly 5, Primary, Autosomal Recessive
Simplified gyral pattern, Ventriculomegaly OMIM:608716
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida, Abnormality of neuronal migration ORPHA:945
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Thick nasal alae, Episodic tachypnea, Hydrocephalus, Abnormal brainstem morphology, Apneic episod... ORPHA:163961
Peho-Like Syndrome
Lissencephaly, Short nose, Pachygyria, Polymicrogyria, Ventriculomegaly OMIM:617507
Diencephalic Syndrome
Hydrocephalus, Long penis ORPHA:1672
3-Hydroxyisobutyric Aciduria
Hypogonadotropic hypogonadism, Ventriculomegaly ORPHA:939
Alexander Disease
Precocious puberty, Hydrocephalus, Aqueductal stenosis, Respiratory insufficiency ORPHA:58
Ovarian Dysgenesis 3
Primary amenorrhea, Female infertility OMIM:614324
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:300200
Epilepsy, Progressive Myoclonic, 9
Simplified gyral pattern, Ventriculomegaly OMIM:616540
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Cardiomyopathy, Familial Restrictive, 1
Ventriculomegaly OMIM:115210
Primary Ciliary Dyskinesia
Male infertility, Neonatal respiratory distress, Nasal polyposis, Female infertility, Productive ... ORPHA:244
Mehmo Syndrome
Broad nasal tip, Depressed nasal tip, Male hypogonadism, Micropenis, Ventriculomegaly OMIM:300148
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... OMIM:604307
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Moyamoya Disease
Ventriculomegaly ORPHA:2573
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Ventriculomegaly, Atrophy/Degeneration affecting the brainstem OMIM:617862
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Anteverted nares, Wide nasal bridge, Ventriculomegaly OMIM:617127
Fried Syndrome
Hydrocephalus ORPHA:85335
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Recurrent upper respiratory tract in... ORPHA:261534
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Polymicrogyria, Depressed nasal bridge, Ventriculomegaly OMIM:602501
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Short colum... ORPHA:171839
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia, Ventriculomegaly ORPHA:85179
Congenital Disorder Of Glycosylation, Type Iiy
Ventriculomegaly, Atrophy/Degeneration affecting the brainstem OMIM:620200
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria, Ventriculomegaly OMIM:614483
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Wide nasal base, Wide nasal bridge OMIM:616521
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Wide nasal bridge OMIM:618302
Trisomy 5P
Hypoplasia of penis, Ventriculomegaly ORPHA:1742
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Choanal atresia OMIM:612247
X-Linked Intellectual Disability, Cantagrel Type
Short nose, Ventriculomegaly, Shawl scrotum ORPHA:85277
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... ORPHA:91348
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Joubert Syndrome 30
Ventriculomegaly, Apnea, Tachypnea, Gray matter heterotopia, Molar tooth sign on MRI, Dandy-Walke... OMIM:617622
Congenital Muscular Dystrophy With Intellectual Disability
Cryptorchidism, Respiratory insufficiency, Abnormal pons morphology, Respiratory failure, Micrope... ORPHA:370968
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hydrocephalus, Anteverted nares, Short nose ORPHA:2701
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Ventriculomegaly OMIM:175700
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Depressed nasal bridge, Hydrocephalus, Wide nasal bridge, Dandy-Walker ... OMIM:220220
Acrofacial Dysostosis 1, Nager Type
Prominent nasal bridge, Aqueductal stenosis, Hydrocephalus, Bicornuate uterus, Polymicrogyria OMIM:154400
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Anteverted nares, Choanal atresia, Myelomeningocele, Hydrocephalus, Respi... ORPHA:1914
Temple Syndrome
Wide nose, Anteverted nares, Depressed nasal bridge, Precocious puberty, Cryptorchidism, Hydrocep... OMIM:616222
Intellectual Developmental Disorder, Autosomal Dominant 51
Unilateral cryptorchidism, Cryptorchidism, Wide nasal bridge, Wide nasal base, Ventriculomegaly, ... OMIM:617788
Cerebrooculofacioskeletal Syndrome 3
Ventriculomegaly OMIM:616570
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Hydrocephalus, Abnormality of neuronal migration, Respiratory ... ORPHA:1895
Cataract 24
Anterior polar cataract OMIM:601202
Developmental And Epileptic Encephalopathy 59
Ventriculomegaly OMIM:617904
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hypoplasia of the brainstem, Pachygyria, Hydrocephalus OMIM:618174
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Lissencephaly ORPHA:1528
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Infertility, Abnorm... ORPHA:330015
Familial Scaphocephaly Syndrome, Mcgillivray Type
Ventriculomegaly ORPHA:168624
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Wide nasal bridge, Ventriculomegaly, Prominent nose ORPHA:137831
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Cryptorchidism, Abnormality of neuronal migration, Ambiguous genitalia, Vent... ORPHA:2772
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly OMIM:304100
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Charge Syndrome
Bifid scrotum, Hypogonadotropic hypogonadism, Choanal atresia, Depressed nasal bridge, Aqueductal... ORPHA:138
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Hypoplasia of the brainstem, Simplified gyral pattern, Ventriculomegaly, Periventricular heterotopia OMIM:618273
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Hydrocephalus, Hypospadias, Ventriculomegaly OMIM:218350
Ciliary Dyskinesia, Primary, 22
Reduced sperm motility, Infertility, Absent inner and outer dynein arms OMIM:615444
Lissencephaly 6 With Microcephaly
Anteverted nares, Periventricular heterotopia, Bulbous nose, Simplified gyral pattern, Microlisse... OMIM:616212
Aniridia 3
Aniridia, Cataract OMIM:617142
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Wide nasal bridge, Underdeveloped nasal alae ORPHA:1516
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Cryptorchidism, Shawl scrotum, Micropenis, Decreased testicular size, V... OMIM:615433
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Broad nasal tip OMIM:609757
Ciliary Dyskinesia, Primary, 1
Male infertility, Communicating hydrocephalus, Nasal polyposis, Pneumonia, Absent outer dynein ar... OMIM:244400
Radial Aplasia, X-Linked
Hydrocephalus, Penile hypospadias OMIM:312190
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Ventriculomegaly OMIM:617977
Temple Syndrome
Precocious puberty, Cryptorchidism, Hydrocephalus ORPHA:254516
Retinitis Pigmentosa 40
Cataract OMIM:613801
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Perisylvian polymicrogyria, Ventriculomegaly OMIM:616531
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Depressed nasal bridge, Anteverted nares, Lateral ventricle dilatation,... OMIM:613443
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Thanatophoric Dysplasia Type 2
Encephalocele, Depressed nasal bridge, Hydrocephalus, Abnormality of neuronal migration, Respirat... ORPHA:93274
Joubert Syndrome 31
Molar tooth sign on MRI, Ventriculomegaly OMIM:617761
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)
Frontal polymicrogyria, Hypoplasia of the pons, Perisylvian polymicrogyria, Hypoplasia of the bra... OMIM:606854
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Polymicrogyria, Type II lisse... OMIM:615181
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal CSF pyruvate family amino acid concentration, Abnormal brainstem morphology, Ventriculom... ORPHA:255182
Cornelia De Lange Syndrome 5
Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Broad nasal tip, Cryptorchidism... OMIM:300882
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Ventriculomegaly OMIM:300699
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose, Recurrent pneumonia, Ventriculomegaly ORPHA:1495
Pellagra-Like Syndrome
Cataract OMIM:260650
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Pierpont Syndrome
Cryptorchidism, Abnormal cortical gyration, Wide nasal ridge, Ventriculomegaly ORPHA:487825
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Ventriculomegaly OMIM:613730
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Anteverted nares, Prominent nasal bridge, Short nose OMIM:300558
Gorlin Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Abnormality of t... ORPHA:377
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Simplified gyral pattern, Depressed nasal bridge, Wide nasal bridge, Ventriculomegaly OMIM:615760
Intellectual Developmental Disorder, X-Linked 111
Ventriculomegaly OMIM:301107
Yoon-Bellen Neurodevelopmental Syndrome
Ventriculomegaly OMIM:619701
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Developmental And Epileptic Encephalopathy 54
Ventriculomegaly OMIM:617391
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Small scrotum, Prominent nasal bridge, Underdeveloped nasal alae, Cryptorchi... ORPHA:2083
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Hypoplasia of the pons, Ventriculomegaly OMIM:613151
Lissencephaly 8
Occipital encephalocele, Type II lissencephaly, Hypoplasia of the brainstem, Polymicrogyria, Agyr... OMIM:617255
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Depressed nasal bridge, Cryptorchidism, Bulbous nose, Simplified gyral pattern, Hypo... OMIM:300354
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Anteverted nares, Precocious puberty, Bulbous nose, Wide nasal bridge, Ventriculomegaly OMIM:300958
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Pallister-Hall-Like Syndrome
Occipital encephalocele, Depressed nasal bridge, Hydrocephalus, Micropenis, Short nose OMIM:241800
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria, Ventriculomegaly ORPHA:2512
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Anteverted nares, Depressed nasal bridge, Prominent nose, Hydrocephalus, Bulbous nose, Wide nasal... ORPHA:2180
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Small scrotum, Anteverted nares, Depressed nasal bridge, Hydrocephalus, Short n... OMIM:617822
Pontocerebellar Hypoplasia, Type 7
Apnea, Broad nasal tip, Hypoplasia of the pons, Cryptorchidism, Hydrocephalus, Wide nasal bridge,... OMIM:614969
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele, Respiratory insufficiency ORPHA:2119
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Microcephaly-Cardiomyopathy Syndrome
Ventriculomegaly ORPHA:2515
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Type II lissencephaly, Ventriculomegaly ORPHA:272
Li-Ghorbani-Weisz-Hubshman Syndrome
Depressed nasal bridge, Prominent nasal bridge, Ventriculomegaly, Periventricular heterotopia OMIM:618974
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria, Ventriculomegaly ORPHA:370980
Bresek Syndrome
Cryptorchidism, Hydrocephalus, Decreased testicular size, Convex nasal ridge ORPHA:85284
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Ventriculomegaly OMIM:206570
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Wide nasal bridge ORPHA:380
Pituitary Dermoid And Epidermoid Cysts
Oligozoospermia, Hypogonadism, Oligomenorrhea, Amenorrhea ORPHA:91351
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ventriculomegaly OMIM:615362
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Ventriculomegaly OMIM:617051
Spastic Paraplegia 47, Autosomal Recessive
Bulbous nose, Wide nasal bridge, Ventriculomegaly OMIM:614066
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Mitochondrial Complex I Deficiency, Nuclear Type 31
Ventriculomegaly OMIM:618251
Rahman Syndrome
Cryptorchidism, Ventriculomegaly OMIM:617537
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cryptorchidism, Apnea, Ventriculomegaly OMIM:619797
Joubert Syndrome 3
Central apnea, Enlarged fossa interpeduncularis, Frontal polymicrogyria, Anteverted nares, Episod... OMIM:608629
Catel-Manzke Syndrome
Ventriculomegaly ORPHA:1388
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypospadias, Anteverted nares, Prominent nasal bridge, Cryptorchidism, Recurrent pneumonia, Hypop... ORPHA:500159
Autosomal Recessive Spastic Paraplegia Type 53
Ventriculomegaly ORPHA:319199
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Wide nasal bridge, Respiratory failure, Pachygyria, Ventric... ORPHA:168486
Ataxia-Deafness-Intellectual Disability Syndrome
Ventriculomegaly ORPHA:1188
Bilateral Frontoparietal Polymicrogyria
Hypoplasia of the pons, Hypoplasia of the brainstem, Ventriculomegaly ORPHA:101070
Hemimegalencephaly
Gray matter heterotopia, Pachygyria, Polymicrogyria, Ventriculomegaly ORPHA:99802
Pyruvate Dehydrogenase E1-Alpha Deficiency
Anteverted nares, Flared nostrils, Wide nasal bridge, Apneic episodes precipitated by illness, fa... OMIM:312170
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ventriculomegaly OMIM:619150
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus, Choanal atresia, Respiratory insufficiency, Convex nasal ridge ORPHA:93262
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Respiratory ... OMIM:608647
Pontocerebellar Hypoplasia, Type 16
Hypoplasia of the pons, Apnea, Ventriculomegaly, Prominent nose OMIM:619527
Joubert Syndrome 9
Encephalocele, Apnea, Episodic tachypnea, Molar tooth sign on MRI, Ventriculomegaly OMIM:612285
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Thanatophoric Dysplasia
Depressed nasal bridge, Hydrocephalus, Respiratory insufficiency, Gray matter heterotopia, Ventri... ORPHA:2655
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Bilateral... ORPHA:90797
Myopathy, Centronuclear, X-Linked
Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Cryptorchidism... OMIM:310400
Intellectual Developmental Disorder, Autosomal Recessive 41
Recurrent pneumonia, Ventriculomegaly, Broad nasal tip OMIM:615637
Coach Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Apneic episodes in infancy OMIM:619111
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Recurrent upper respiratory tract in... ORPHA:99330
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Leukoencephalopathy, Cystic, Without Megalencephaly
Ventriculomegaly OMIM:612951
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Neuronal Intranuclear Inclusion Disease
CSF pleocytosis, Increased CSF protein concentration, Ventriculomegaly OMIM:603472
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Type II lissencephaly, Olivopontocerebellar hy... ORPHA:370959
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... OMIM:616034
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Bulbous nose, Depressed nasal bridge, Anteverted nares, Ventriculomegaly OMIM:617268
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Laurin-Sandrow Syndrome
Prominent nose, Underdeveloped nasal alae, Cryptorchidism, Hydrocephalus, Abnormality of the nose... ORPHA:2378
Adams-Oliver Syndrome 2
Depressed nasal bridge, Bulbous nose, Hydrocephalus, Lateral ventricle dilatation, Polymicrogyria OMIM:614219
Developmental And Epileptic Encephalopathy 9
Ventriculomegaly OMIM:300088
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cryptorchidism, Micropenis, Respiratory insufficiency, Ventriculomegaly OMIM:613156
5Q14.3 Microdeletion Syndrome
Short nose, Anteverted nares, Ventriculomegaly ORPHA:228384
Heterotaxy, Visceral, 1, X-Linked
Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Respiratory distress OMIM:306955
Optic Pathway Glioma
Precocious puberty, Hydrocephalus ORPHA:2086
Goldberg-Shprintzen Megacolon Syndrome
Bifid scrotum, Hypospadias, Wide nasal bridge, Pachygyria, Ventriculomegaly ORPHA:66629
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Acromelic Frontonasal Dysplasia
Encephalocele, Broad nasal tip, Bifid nasal tip, Cryptorchidism, Meningocele, Choroid plexus cyst... ORPHA:1827
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Respiratory insufficiency, Apnea, Ventriculomegaly OMIM:617290
Tubulinopathy-Associated Dysgyria
Ventriculomegaly, Hypoplasia of the pons, Abnormal brainstem morphology, Pachygyria, Agyria, Dysg... ORPHA:467166
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory failure, Depressed nasal ridge ORPHA:1861
Developmental And Epileptic Encephalopathy 99
Central apnea, Perisylvian polymicrogyria, Ventriculomegaly, Atrophy/Degeneration affecting the b... OMIM:619606
Genitopalatocardiac Syndrome
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Hydrocephalus, Wide nasal bridge, Gonada... ORPHA:2075
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Myotonic Dystrophy 2
Hypogonadism, Oligozoospermia OMIM:602668
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Anteverted nares, Cryptorchidism, Hydrocephalus, Lissencephaly, Dandy-Walker malformation OMIM:612938
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Bulbous nose, Simplified gyral pattern, Gray matter h... OMIM:615219
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Depressed nasal bridge, Ventriculomegaly OMIM:615286
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Ventriculomegaly ORPHA:48431
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty, Ventriculomegaly ORPHA:457260
Cataract 48
Cataract OMIM:618415
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydrocephalus, Hypoplasia of the brainstem, Hydranencephaly, Polymicrogyria, Da... OMIM:225790
Intellectual Developmental Disorder, Autosomal Dominant 21
Cryptorchidism, Ventriculomegaly OMIM:615502
Smith-Kingsmore Syndrome
Depressed nasal bridge, Cryptorchidism, Wide anterior fontanel, Perisylvian polymicrogyria, Short... OMIM:616638
X-Linked Lissencephaly With Abnormal Genitalia
Hypoplasia of penis, Cryptorchidism, Ambiguous genitalia, Pachygyria, Ventriculomegaly ORPHA:452
6Q25 Microdeletion Syndrome
Wide nasal bridge, External genital hypoplasia, Ventriculomegaly ORPHA:251056
Intellectual Developmental Disorder, Autosomal Recessive 46
Ventriculomegaly OMIM:616116
Microhydranencephaly
Prominent nasal bridge, Hypoplasia of the brainstem, Hydranencephaly, Pachygyria, Ventriculomegaly OMIM:605013
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Hydrocephalus, Midline brainstem cleft OMIM:617542
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hypoplasia of the brainstem, Hydrocephalus OMIM:613155
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterotopia, Insp... OMIM:207950
Macrocephaly, Benign Familial
Ventriculomegaly OMIM:153470
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hydrocephalus, Hypospadias, Wide nasal bridge OMIM:601499
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
20P12.3 Microdeletion Syndrome
Depressed nasal bridge, Wide nasal bridge, Ventriculomegaly ORPHA:261295
Oxoglutarate Dehydrogenase Deficiency
Ventriculomegaly OMIM:203740
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Prominent nasal bridge, Wide nasal bridge, Ventriculomegaly OMIM:619556
Intellectual Developmental Disorder, X-Linked 12
Cryptorchidism, Microphallus, Ventriculomegaly, Abnormality of neuronal migration OMIM:300957
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Wide nose, Long nose ORPHA:2184
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Ventriculomegaly ORPHA:2172
Infantile Sialic Acid Storage Disease
Hydrocephalus, Anteverted nares OMIM:269920
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Trisomy 1Q
Wide nose, Small scrotum, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Ambiguous genita... ORPHA:261344
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Depressed nasal bridge, Choanal atresia, Wide anterior fontanel, Hydrocephalus, Upper airway obst... OMIM:207410
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Ventriculomegaly ORPHA:521390
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Central apnea, Neonatal breathing dysregulation,... OMIM:608091
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Cryptorchidism, Respiratory insufficiency, Ventriculomegaly ORPHA:88639
48,Xxyy Syndrome
Hypoplasia of penis, Hypergonadotropic hypogonadism, Apnea, Cryptorchidism, Asthma, Azoospermia, ... ORPHA:10
Congenital Varicella Syndrome
Cataract ORPHA:291
Orofaciodigital Syndrome Xvii
Micropenis, Ventriculomegaly, Prominent nose OMIM:617926
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Metatropic Dysplasia
Hydrocephalus, Depressed nasal bridge ORPHA:2635
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Oligozoospermia, Oligomenorrhea, Infertility, Ambiguous genitalia, Female pse... ORPHA:786
Crouzon Syndrome
Hydrocephalus, Choanal atresia, Respiratory insufficiency, Convex nasal ridge ORPHA:207
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Increased CSF lactate, Respiratory failure, Increased CSF glycine conc... OMIM:615330
Hydrolethalus
Cryptorchidism, Hydrocephalus, Anencephaly, Abnormality of the sense of smell, Abnormal fallopian... ORPHA:2189
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Intellectual Developmental Disorder, Autosomal Dominant 70
Broad nasal tip, Hypoplasia of the pons, Hydrocephalus, Wide nasal bridge, Low hanging columella OMIM:620157
Developmental And Epileptic Encephalopathy 1
Dyspnea, Micropenis, Ventriculomegaly OMIM:308350
Thanatophoric Dysplasia Type 1
Depressed nasal bridge, Wide anterior fontanel, Hydrocephalus, Respiratory insufficiency, Gray ma... ORPHA:1860
Histidinuria-Renal Tubular Defect Syndrome
Wide nasal bridge, Ventriculomegaly ORPHA:2158
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Galloway-Mowat Syndrome 5
Pachygyria, Ventriculomegaly OMIM:617731
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... ORPHA:99429
Rhombencephalosynapsis
Anteverted nares, Hydrocephalus, Abnormality of the uterus, Short nose, Ventriculomegaly ORPHA:59315
Orofaciodigital Syndrome Xvi
Depressed nasal bridge, Apnea, Gray matter heterotopia, Molar tooth sign on MRI, Ventriculomegaly OMIM:617563
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Ventriculomegaly OMIM:611555
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Holoprosencephaly ORPHA:77298
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominent nose, Wide anterior fontanel, Hydrocephalus, Wide nasal bridge, Abnormality of the male... OMIM:614886
Joubert Syndrome With Oculorenal Defect
Encephalocele, Apnea, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Tachypnea, Abnorma... ORPHA:2318
Walker-Warburg Syndrome
Hypoplasia of penis, Ventriculomegaly, Abnormal cortical gyration, Cryptorchidism, Hydrocephalus,... ORPHA:899
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Polymicrogyria, Depressed nasal bridge, Ventriculomegaly ORPHA:60040
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Depressed nasal bridge, Anteverted nares, Ventriculomegaly OMIM:179613
Hogue-Janssen Syndrome 2
Hydrocephalus, Anteverted nares, Ventriculomegaly OMIM:616362
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Agyria, Perisylvian polymicrogyria, Hypoplasia of the brainstem, Lissen... ORPHA:171680
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Diabetic Embryopathy
Cryptorchidism, Hydrocephalus, Spinal dysraphism, Micropenis, Abnormal morphology of female inter... ORPHA:1926
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus, Depressed nasal ridge, Short nose OMIM:300863
Baraitser-Winter Syndrome 1
Anteverted nares, Cryptorchidism, Short nose, Wide nasal bridge, Lissencephaly, Micropenis, Pachy... OMIM:243310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle... OMIM:613154
Joubert Syndrome With Renal Defect
Encephalocele, Apnea, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Molar tooth sign o... ORPHA:220497
Triploidy
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, ... ORPHA:3376
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Polymicrogyria, Ventriculomegaly OMIM:614254
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Cryptorchidism, Hydrocephalus, Polymicrogyria, Ventriculomegaly ORPHA:1647
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Short nose, Ventricul... ORPHA:1812
Cahmr Syndrome
Lamellar cataract OMIM:211770
Joubert Syndrome
Encephalocele, Apnea, Episodic tachypnea, Anteverted nares, Prominent nasal bridge, Hydrocephalus... ORPHA:475
Mitochondrial Complex I Deficiency, Nuclear Type 19
Respiratory insufficiency, Ventriculomegaly OMIM:618241
Kohlschutter-Tonz Syndrome
Ventriculomegaly OMIM:226750
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Small scrotum, Prominent nose, Long nose, Cryptorchidism, Microphallus, Micropenis, Ventriculomegaly OMIM:300486
Achondroplasia
Anteverted nares, Depressed nasal bridge, Wide anterior fontanel, Hydrocephalus, Hypoxemia, Restr... ORPHA:15
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Wide nasal bridge, Hydrocele testis, Short columella, Short nose, Ventriculomegaly OMIM:613603
Crane-Heise Syndrome
Hypoplasia of penis, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Ventriculomegaly ORPHA:1512
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Cornelia De Lange Syndrome 2
Anteverted nares, Prominent nasal bridge, Ventriculomegaly OMIM:300590
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Anteverted nares, Prominent nasal bridge, Bulbous nose, Respiratory insufficiency, Extra-axial ce... OMIM:616900
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypospadias, Apnea, Bronchiectasis, Respiratory insufficiency, Increased CSF lactate, Simplified ... OMIM:618253
Pyridoxine-Dependent Epilepsy
Neonatal asphyxia, Neonatal respiratory distress, Ventriculomegaly ORPHA:3006
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Ventriculomegaly ORPHA:206559
Ritscher-Schinzel Syndrome 1
Depressed nasal bridge, Hydrocephalus, Hypospadias, Dandy-Walker malformation OMIM:220210
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Pachygyria, Polymicrogyria, Ventriculomegaly OMIM:603387
Gapo Syndrome
Dysmenorrhea, Oligozoospermia, Hypogonadism, Umbilical hernia, Amenorrhea ORPHA:2067
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Respiratory insufficiency due to muscle weakness, Hydrocephalus, Hypoplasia of the brainstem, Lis... OMIM:615249
Developmental And Epileptic Encephalopathy 65
Ventriculomegaly OMIM:618008
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Depressed nasal bridge, Wide anterior fontanel, Hydrocephalu... OMIM:616482
Xq12-Q13.3 Duplication Syndrome
Cryptorchidism, Recurrent upper respiratory tract infections, Depressed nasal bridge, Ventriculom... ORPHA:314389
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Respiratory distress, Anteverted nares, Depressed nasal bridge, Choanal atresia, C... ORPHA:1555
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pulmonary arterial hypertension, Ventriculomegaly, Increased CSF lactate OMIM:619059
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Periventricular heterotopia, Hydrocephalus, Colpocephaly, Short nose, Ven... OMIM:619833
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cryptorchidism, Ventriculomegaly ORPHA:485350
Mitochondrial Complex I Deficiency, Nuclear Type 6
Respiratory insufficiency, Apnea, Ventriculomegaly OMIM:618228
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hypospadias, Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Periventricular nodular h... OMIM:618659
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly OMIM:219730
Neurodevelopmental Disorder With Involuntary Movements
Ventriculomegaly, Atrophy/Degeneration affecting the brainstem OMIM:617493
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Congenital Disorder Of Glycosylation, Type Iih
Depressed nasal bridge, Ventriculomegaly OMIM:611182
Lowry-Maclean Syndrome
Hypospadias, Choanal atresia, Bilateral cryptorchidism, Hydrocephalus, Short nose, Short nasal br... ORPHA:2409
Skraban-Deardorff Syndrome
Depressed nasal bridge, Anteverted nares, Ventriculomegaly OMIM:617616
Hsd10 Disease
Ventriculomegaly ORPHA:391417
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hypospadias, Depressed nasal bridge, Cryptorchidism, Asthma, Polymicrogyria, Ventriculomegaly ORPHA:457485
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Hemangioblastoma
Hydrocephalus ORPHA:252054
Nephronophthisis 18
Hydrocephalus OMIM:615862
Cerebrooculofacioskeletal Syndrome 1
Prominent nasal bridge, Prominent nose, Cryptorchidism, Recurrent pneumonia, Ventriculomegaly OMIM:214150
Luscan-Lumish Syndrome
Long nose, Irregular menstruation, Ventriculomegaly, Polycystic ovaries OMIM:616831
Desmosterolosis
Depressed nasal bridge, Abnormal cortical gyration, Abnormality of the nose, Hydrocephalus, Abnor... ORPHA:35107
Basilicata-Akhtar Syndrome
Anteverted nares, Wide nasal ridge, Precocious puberty, Choanal stenosis, Ventriculomegaly OMIM:301032
Tenorio Syndrome
Wide nose, Apnea, Anteverted nares, Hydrocephalus, Recurrent pneumonia, Ventriculomegaly OMIM:616260
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Anteverted nares, Hypoplasia of the pons, Wide nasal bridge, Aspiration p... OMIM:616430
Spastic Paraplegia 50, Autosomal Recessive
Bulbous nose, Wide nasal ridge, Ventriculomegaly OMIM:612936
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Depressed nasal bridge, Prominent nasal bridge, Cryptorchidism, Hydrocephalus, Micropenis OMIM:619951
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Respiratory failure, Polymicrogyria, Agyria, Ventriculomegaly OMIM:616538
Plasminogen Deficiency, Type I
Hydrocephalus, Recurrent upper respiratory tract infections, Ventriculomegaly, Dandy-Walker malfo... OMIM:217090
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Ventriculomegaly, Wide nose, Hypospadias, Anteverted nares, Depressed nasal bridge... OMIM:257300
Femoral-Facial Syndrome
Cryptorchidism, Short nose, Long penis, Ventriculomegaly ORPHA:1988
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Gm1-Gangliosidosis, Type Iii
Ventriculomegaly OMIM:230650
3C Syndrome
Hypoplasia of penis, Ventriculomegaly, Hypospadias, Depressed nasal bridge, Hydrocephalus, Wide n... ORPHA:7
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Molar tooth sign on MRI, Dandy-Walker mal... OMIM:611134
Leukodystrophy, Hypomyelinating, 24
Ventriculomegaly OMIM:619851
Joubert Syndrome With Ocular Defect
Encephalocele, Apnea, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Molar tooth sign o... ORPHA:220493
Emanuel Syndrome
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Recurrent sinusitis, Micropenis, Dandy-Walker ma... OMIM:609029
Neurodevelopmental Disorder With Dystonia And Seizures
Ventriculomegaly OMIM:619922
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Recurrent pneumonia, Wide nasal bridge, Simplified gyral pattern, Extra-a... OMIM:619179
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly OMIM:109120
Seckel Syndrome 9
Clitoral hypertrophy, Asthma, Agonadism, Simplified gyral pattern, Ambiguous genitalia, Convex na... OMIM:616777
Pontocerebellar Hypoplasia Type 2
Apnea, Abnormal cortical gyration, Hypoplasia of the ventral pons, Hypoplasia of the brainstem, V... ORPHA:2524
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Ventriculomegaly, Subcortical heterotopia, Agyria, Type II lissencephaly, Hydrocep... OMIM:614643
Microcephalic Primordial Dwarfism, Toriello Type
Ventriculomegaly ORPHA:2643
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Polymicrogyria, Ventriculomegaly, Colpocephaly OMIM:620156
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Hydrocephalus, Asthma, Hypogonadism, Micropenis, Dilated third ventricle, Ventric... ORPHA:500055
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Depressed nasal bridge, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Molar tooth sign... OMIM:616546
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus, Depressed nasal ridge, Short nose ORPHA:163966
Ogden Syndrome
Underdeveloped nasal alae, Cryptorchidism, Short columella, Enlarged naris, Ventriculomegaly ORPHA:276432
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Wide nasal bridge, Spinal dysraphism, Hol... ORPHA:1908
Baraitser-Winter Syndrome 2
Pachygyria, Lissencephaly, Ventriculomegaly OMIM:614583
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Ventriculomegaly, Clitoral hypertrophy ORPHA:96181
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Hydrocephalus, Hypogonadism, Micropenis, Ventriculomegaly OMIM:300514
Pontocerebellar Hypoplasia, Type 10
Underdeveloped nasal alae, Cryptorchidism, Bulbous nose, Wide nasal bridge, Simplified gyral patt... OMIM:615803
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory insufficiency due to muscle weakness, Perisylvian polymicrogyria, Late... OMIM:618291
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Emanuel Syndrome
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Hypogonadism, Infertility, Cough, Micropenis, Da... ORPHA:96170
B4Galt1-Cdg
Hydrocephalus, Wide nasal bridge, Dandy-Walker malformation ORPHA:79332
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Focal polymicrogyria, Cryptorchidism, Hydrocephalus, Wide nasal bridg... OMIM:612651
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Respiratory distress, Hypospadias, Anteverted nares, Depressed nasal bridge, Choan... OMIM:123790
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Ventriculomegaly OMIM:616299
Spastic Paraplegia 75, Autosomal Recessive
Ventriculomegaly OMIM:616680
Chromosome 2P16.1-P15 Deletion Syndrome
Depressed nasal bridge, Hypoplasia of the pons, Cryptorchidism, Recurrent upper respiratory tract... OMIM:612513
Roifman-Chitayat Syndrome
Wide nasal bridge, Depressed nasal bridge, Pneumonia, Ventriculomegaly OMIM:613328
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the nose, Cryptorchidism, Hydrocephalus, Vaginal atresia ORPHA:3301
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Anteverted nares, Underdeveloped nasal alae, Meningocele, Respiratory insufficiency, Short nose, ... ORPHA:2031
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anteverted nares, Depressed nasal bridge, Aqueductal stenosis, Hydrocephalus, Asthma, Lateral ven... OMIM:619534
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Abnormal nasal morphology, Hypospadias, Ventriculomegaly ORPHA:3224
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Narrow nasal bridge, Anteverted nares, Wide nasal bridge, Extra-axial cereb... OMIM:619383
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Respiratory insufficiency ORPHA:1865
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, Restrictive ventilatory defect, Short nose, Increased CSF protein concentratio... OMIM:218000
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal brainstem morphology, Abnormal pons morphology, Polymicrogyria, Agyria, Ventriculomegaly ORPHA:370997
Desmosterolosis
Hypoplastic nasal bridge, Anteverted nares, Hydrocephalus, Ambiguous genitalia, female, Ambiguous... OMIM:602398
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Cryptorchidism, Prominent nasal bridge, Wide nasal bridge, Ventriculomegaly OMIM:617452
Joubert Syndrome 6
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Breathing dysregulation, Hypoplasia o... OMIM:610688
Mulibrey Nanism
Wide nose, Depressed nasal bridge, Wide nasal bridge, Ventriculomegaly OMIM:253250
Tetrasomy 5P
Respiratory distress, Anteverted nares, Wide anterior fontanel, Hydrocephalus, Wide nasal bridge,... ORPHA:3309
Arachnoiditis
Hydrocephalus ORPHA:137817
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Abnormality of neuronal migration, Holo... ORPHA:261236
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Intellectual Developmental Disorder, Autosomal Dominant 64
Depressed nasal bridge, Anteverted nares, Bulbous nose, Periventricular nodular heterotopia, Vent... OMIM:619188
Pfeiffer Syndrome
Depressed nasal bridge, Choanal atresia, Hydrocephalus, Choanal stenosis, Short nose OMIM:101600
Warburg Micro Syndrome 3
Small scrotum, Hypoplastic labia minora, Short nose, Micropenis, Polymicrogyria, Decreased testic... OMIM:614222
Combined D-2- And L-2-Hydroxyglutaric Aciduria
Stridor, Dyspnea, Respiratory insufficiency, Ventriculomegaly OMIM:615182
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Bulbous nose, Laryngotracheomalacia, Anteverted nares, Ventriculomegaly OMIM:618547
Juvenile Huntington Disease
Ventriculomegaly ORPHA:248111
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Increased CSF lactate, Lateral ventricle dilatation, Abnormal CSF ... ORPHA:79243
Rere-Related Neurodevelopmental Syndrome
Anteverted nares, Hypospadias, Choanal atresia, Cryptorchidism, Ventriculomegaly ORPHA:494344
Peho Syndrome
Anteverted nares, Hydrocephalus, Atrophy/Degeneration affecting the brainstem, Short nose, Ventri... ORPHA:2836
Pontocerebellar Hypoplasia, Type 9
Hypoplasia of the pons, Ventriculomegaly OMIM:615809
Noonan Syndrome 12
Ventriculomegaly OMIM:618624
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Developmental And Epileptic Encephalopathy 64
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Low insertion of columella, Ventriculo... OMIM:618004
Multiple Sulfatase Deficiency
Hydrocephalus, Increased CSF protein concentration, Anteverted nares, Ventriculomegaly OMIM:272200
Acromelic Frontonasal Dysostosis
Encephalocele, Broad nasal tip, Bifid nasal tip, Cryptorchidism, Choroid plexus cyst, Upper airwa... OMIM:603671
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Bulbous nose, Short nose, Ventriculomegaly ORPHA:284169
Narp Syndrome
Ventriculomegaly ORPHA:644
Joubert Syndrome 14
Encephalocele, Prominent nasal bridge, Hydrocephalus, Meningocele, Hypoplasia of the brainstem, M... OMIM:614424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Restrictive ventilatory defect, Respiratory failure, Pachygyria, Ventriculomegaly OMIM:606612
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Intellectual Developmental Disorder, Autosomal Dominant 65
Bulbous nose, Wide nasal bridge, Anteverted nares, Noncommunicating hydrocephalus OMIM:619320
Pyruvate Dehydrogenase E1-Beta Deficiency
Hypoplasia of the brainstem, Pachygyria, Ventriculomegaly, Periventricular heterotopia ORPHA:255138
Malan Overgrowth Syndrome
Hypoplasia of the brainstem, Depressed nasal bridge, Ventriculomegaly, Lateral ventricle dilatation ORPHA:420179
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Depressed nasal bridge, Cryptorchidism, Micropenis, Convex nasal ridge, Ventriculomegaly OMIM:241410
Christianson Syndrome
Ventriculomegaly, Abnormality of the nose ORPHA:85278
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Type II lissencephaly, Hy... OMIM:615287
Rabin-Pappas Syndrome
Hypoventilation, Broad nasal tip, Hypoplasia of the pons, Hydrocephalus, Wide nasal bridge, Trach... OMIM:620155
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Anteverted nares, Wide nasal bridge, Ventriculomegaly OMIM:618342
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Periventricular heteroto... OMIM:618870
Sim1-Related Prader-Willi-Like Syndrome
Narrow nasal bridge, Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, P... ORPHA:398079
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Wide nasal bridge, Ventriculomegaly OMIM:611087
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia, Bulbous nose, Hydrocephalus, Dandy-Walker malformation, Ventriculome... OMIM:618476
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Pyruvate Dehydrogenase Deficiency
Dyspnea, Tachypnea, Wide nasal bridge, Ventriculomegaly ORPHA:765
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea OMIM:110100
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Hypospadias, Increased CSF lactate, Pulmonary arterial hypertension, Ventri... OMIM:619272
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Respiratory insufficiency, Gray matter heterotopia, Lateral ... OMIM:617397
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Agyria, Type II lissencephaly, Cryptorchidism, Meningo... OMIM:236670
Trisomy 17P
Wide nose, Hypoplasia of penis, Prominent nose, Hydrocephalus, Thick nasal alae ORPHA:261290
Lhermitte-Duclos Disease
Hydrocephalus, Polymicrogyria, Ovarian neoplasm ORPHA:65285
Chromosome 1Q41-Q42 Deletion Syndrome
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Cryptorchidism, Holoprosencephaly, Ven... OMIM:612530
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Cryptorchidism, Wide nose, Prominent nasal bridge, Ventriculomegaly ORPHA:505237
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Ventriculomegaly, Depressed nasal bridge, Increased CSF lactate, Inspirator... OMIM:604377
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Depressed nasal bridge, Anteverted nares ORPHA:1064
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Hydrocephalus, Microphallus, Aspirat... OMIM:617053
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome
Low hanging columella, Underdeveloped nasal alae, Ventriculomegaly, Broad nasal tip ORPHA:404473
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Ventriculomegaly OMIM:618603
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Cataract, Lens subluxation OMIM:216820
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Sandestig-Stefanova Syndrome
Respiratory failure, Wide nasal bridge, Ventriculomegaly, Convex nasal ridge OMIM:618804
Fg Syndrome Type 1
Hypospadias, Choanal atresia, Prominent nose, Cryptorchidism, Hydrocephalus, Pulmonary arterial h... ORPHA:93932
Holoprosencephaly 3
Depressed nasal bridge, Proboscis, Abnormality of the nose, Single naris, Short columella, Holopr... OMIM:142945
Chromosome 19P13.13 Deletion Syndrome
Ventriculomegaly OMIM:613638
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Hypospadias, Endometriosis, Long nose, Micropenis, Ventriculomeg... ORPHA:363444
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Hypoplasia of the pons, Extra-axial cerebrospinal fluid accumulation, Simplified gyral pattern, V... OMIM:617669
Cerebrooculonasal Syndrome
Encephalocele, Anteverted nares, Prominent nasal bridge, Proboscis, Hydrocephalus, Hypoplastic ma... OMIM:605627
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Rectovaginal fistula, Perineal fistula ORPHA:3016
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus, Anteverted nares, Polycystic ovaries ORPHA:2969
Chromosome 17P13.1 Deletion Syndrome
Depressed nasal bridge, Anteverted nares, Spina bifida, Prominent nasal bridge, Hydrocephalus, Bu... OMIM:613776
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Oligozoospermia OMIM:614813
Maternal Uniparental Disomy Of Chromosome 1
Ventriculomegaly ORPHA:251009
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Agyria, Hydrocephalus, Respiratory insufficiency, Hypoplasia of the brainstem, Lis... OMIM:253800
H Syndrome
Recurrent pharyngitis, Hydrocephalus, Bronchiectasis, Azoospermia, Hypogonadism, Chronic rhinitis... ORPHA:168569
Sanjad-Sakati Syndrome
Hypoplasia of penis, Depressed nasal bridge, Cryptorchidism, Convex nasal ridge, Ventriculomegaly ORPHA:2323
Fraser Syndrome 3
Wide nose, Hypoplasia of penis, Small scrotum, Hydrocephalus, Convex nasal ridge OMIM:617667
Apert Syndrome
Depressed nasal bridge, Choanal atresia, Hydrocephalus, Respiratory insufficiency, Ovarian neopla... ORPHA:87
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventriculomegaly OMIM:620210
Tatton-Brown-Rahman Syndrome
Cryptorchidism, Short columella, Ventriculomegaly ORPHA:404443
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Pulmonary arterial hypertension, Ventriculomegaly, Increased CSF lactate OMIM:619051
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Prominent nose OMIM:617281
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... ORPHA:90793
Methylcobalamin Deficiency Type Cble
Hypoplasia of the brainstem, Hydrocephalus, Ventriculomegaly ORPHA:2169
Pseudotrisomy 13 Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Bicornuate uterus, Holoprosencephaly, Micropenis, P... OMIM:264480
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Anteverted nares, Short nose, Wide nasal bridge, Micropenis, Pleural effusion, Ventr... OMIM:616897
Rasmussen Subacute Encephalitis
Ventriculomegaly, Increased CSF protein concentration, Abnormal cerebrospinal fluid morphology ORPHA:1929
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Respiratory distress, Anteverted nares, Depressed nasal bridge, Wide... OMIM:618188
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Bifid uterus ORPHA:2736
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:613001
Crouzon Syndrome
Hydrocephalus, Deviated nasal septum, Dysgerminoma OMIM:123500
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Abnormal fallopian tube morphology, Abnormality of the ovary, Dandy-Wa... ORPHA:722
Neurocutaneous Melanocytosis
Ventriculomegaly, Meningocele, Abnormality of neuronal migration, Dandy-Walker malformation ORPHA:2481
Linear Verrucous Nevus Syndrome
Ventriculomegaly, Dandy-Walker malformation ORPHA:2611
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
4Q21 Microdeletion Syndrome
Depressed nasal bridge, Ventriculomegaly ORPHA:238750
Acrodysostosis 1 With Or Without Hormone Resistance
Anteverted nares, Depressed nasal bridge, Broad nasal tip, Cryptorchidism, Hydrocephalus, Irregul... OMIM:101800
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Ventriculomegaly ORPHA:500180
Multiple Sulfatase Deficiency
Hydrocephalus, Anteverted nares, Depressed nasal bridge ORPHA:585
Pseudo-Torch Syndrome 1
Anteverted nares, Lissencephaly, Pachygyria, Increased CSF protein concentration, Polymicrogyria,... OMIM:251290
19P13.12 Microdeletion Syndrome
Narrow nasal bridge, Anteverted nares, Hypospadias, Precocious puberty, Cryptorchidism, Ventricul... ORPHA:254346
Weiss-Kruszka Syndrome
Colpocephaly, Short nose, Anteverted nares, Ventriculomegaly OMIM:618619
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Abnormal cortical gyration, Ventriculomegaly OMIM:614576
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Absent nares, Hol... ORPHA:2166
Thanatophoric Dysplasia, Type Ii
Respiratory insufficiency, Ventriculomegaly OMIM:187601
Cadds
Short nose, Ventriculomegaly ORPHA:369942
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Depressed nasal bridge, Dandy-Walker malformation ORPHA:459061
Houge-Janssens Syndrome 3
Hypoplasia of the brainstem, Ventriculomegaly, Broad nasal tip OMIM:618354
Congenital Disorder Of Glycosylation, Type Ii
Wide nasal bridge, Ventriculomegaly OMIM:607906
Whipple Disease
Hydrocephalus, Respiratory insufficiency, Erectile dysfunction, Cough ORPHA:3452
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Ventriculomegaly OMIM:620166
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Ventriculomegaly, Hyperventilation OMIM:617903
Gracile Bone Dysplasia
Micropenis, Hydrocephalus OMIM:602361
Koolen-De Vries Syndrome
Hypospadias, Prominent nasal bridge, Underdeveloped nasal alae, Cryptorchidism, Bulbous nose, Wid... ORPHA:96169
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:238769
Muenke Syndrome
Hydrocephalus ORPHA:53271
Short Stature, Microcephaly, And Endocrine Dysfunction
Prominent nasal bridge, Broad nasal tip, Long nose, Cryptorchidism, Simplified gyral pattern, Mic... OMIM:616541
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
Cutis Laxa, Autosomal Recessive, Type Iib
Bulbous nose, Hydrocephalus, Narrow nasal ridge OMIM:612940
Martsolf Syndrome 1
Enlarged sylvian cistern, Hypogonadotropic hypogonadism, Depressed nasal bridge, Broad nasal tip,... OMIM:212720
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Hydrocephalus OMIM:259710
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Snijders Blok-Campeau Syndrome
Wide nasal bridge, Ventriculomegaly, Prominent nose OMIM:618205
Thanatophoric Dysplasia, Type I
Neonatal respiratory distress, Gray matter heterotopia, Hydrocephalus OMIM:187600
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax, Glandular hypospadias, Increased CSF lactate, Decreased CSF c... OMIM:620306
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Respiratory insufficiency, Retractile testis, Atrophy/Degeneration affecting the brainstem, Ventr... OMIM:617193
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Ventriculomegaly OMIM:618707
Bloom Syndrome
Male infertility, Azoospermia, Premature ovarian insufficiency, Oligozoospermia ORPHA:125
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Narrow nose, Cry... OMIM:618454
Spastic Paraplegia 51, Autosomal Recessive
Long nose, Bulbous nose, Wide nasal bridge, Ventriculomegaly OMIM:613744
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Type II lissencephaly, Hydrocephalus, Hypoplasia of the brainstem, Pachygyria, Ven... OMIM:613150
Mend Syndrome
Prominent nasal bridge, Cryptorchidism, Hydrocephalus, Wide anterior fontanel, Abnormal nasal bri... ORPHA:401973
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Hydrocephalus, Anteverted nares, Lateral ventricle dilatation OMIM:612863
Jacobsen Syndrome
Hypospadias, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Clitoral hy... OMIM:147791
Marshall-Smith Syndrome
Short nose, Anteverted nares, Choanal atresia, Ventriculomegaly ORPHA:561
Brain Malformations With Or Without Urinary Tract Defects
Short nose, Anteverted nares, Ventriculomegaly OMIM:613735
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Anteverted nares, Depressed nasal bridge, Long nose, Cryptorchidism, Bulbous nose, Micropenis, Ve... OMIM:620224
Distal Triplication 15Q
Hydrocele testis, Hydrocephalus, Abnormal external genitalia, Dandy-Walker malformation ORPHA:314588
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Anteverted nares, Cryptorchidism, Short nose, Abnormal testis morphology, Ve... ORPHA:96147
Trichorhinophalangeal Syndrome Type 2
Bulbous nose, Thick nasal alae, Wide nasal bridge, Ventriculomegaly ORPHA:502
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ventriculomegaly ORPHA:1933
Holoprosencephaly 7
Flat nasal alae, Alobar holoprosencephaly, Hydrocephalus, Absent nasal septal cartilage, Wide nas... OMIM:610828
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Neonatal respiratory distress, Hypospadias, Depressed nasal bridge, Wide nasal bridge, Lateral ve... OMIM:619479
16Q24.3 Microdeletion Syndrome
Anteverted nares, Periventricular heterotopia, Cryptorchidism, Colpocephaly, Ventriculomegaly ORPHA:261250
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Glycine Encephalopathy With Normal Serum Glycine
Depressed nasal bridge, Apnea, Anteverted nares, Respiratory failure, Ventriculomegaly OMIM:617301
Lateral Meningocele Syndrome
Cryptorchidism, Hydrocephalus, Meningocele, Short nasal bridge OMIM:130720
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Ventriculomegaly ORPHA:363429
Tatton-Brown-Rahman Syndrome
Short columella, Anteverted nares, Ventriculomegaly OMIM:615879
Monosomy 18Q
Depressed nasal bridge, Prominent nose, Bilateral cryptorchidism, Hydrocephalus, Bulbous nose, Ch... ORPHA:1600
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Hydrocephalus, Bulbous nose, Wide nasal bridge ORPHA:250989
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Ventriculomegaly ORPHA:500533
Spondylocostal Dysostosis 4, Autosomal Recessive
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Myelomeningocele, ... OMIM:613686
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Hypoplasia of the brainstem, Ventriculomegaly OMIM:617807
Temtamy Syndrome
Convex nasal ridge, Ventriculomegaly OMIM:218340
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Apnea, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Abnormal... ORPHA:1454
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Long nose, Hydrocephalus, Depressed nasal bridge, Short nose OMIM:618590
Meckel Syndrome, Type 6
Abnormal internal genitalia, Occipital encephalocele, Anencephaly, Hydrocephalus OMIM:612284
Cog8-Cdg
Ventriculomegaly, Atrophy/Degeneration affecting the brainstem ORPHA:95428
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Choanal atresia, Underdeveloped nasal alae, Cryptorchidism, Hydrocephalus, Respirato... ORPHA:163979
Holoprosencephaly
Encephalocele, Hypoplasia of penis, Aplasia/Hypoplasia involving the nose, Anteverted nares, Choa... ORPHA:2162
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Bulbous nose, Wide nasal bridge, Dandy-Walker malformation, Ventriculomegaly OMIM:220500
Congenital Disorder Of Glycosylation, Type If
Wide anterior fontanel, Ventriculomegaly OMIM:609180
Opitz-Kaveggia Syndrome
Hypospadias, Choanal atresia, Prominent nose, Cryptorchidism, Hydrocephalus, Wide anterior fontan... OMIM:305450
Lissencephaly Due To Lis1 Mutation
Ventriculomegaly, Anterior predominant thick cortex pachygyria, Aspiration pneumonia, Pachygyria,... ORPHA:95232
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Anteverted nares, Olivopontocerebellar hypoplasia, Hydrocephalus, Aplasia of the vagina, Aplasia ... ORPHA:457284
Sifrim-Hitz-Weiss Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Ambiguous genitalia, Micropenis, Ventriculomegaly OMIM:617159
Carey-Fineman-Ziter Syndrome 1
Anteverted nares, Depressed nasal bridge, Broad nasal tip, Cryptorchidism, Respiratory insufficie... OMIM:254940
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus, Wide nasal bridge, Short nose, Broad nasal tip OMIM:239300
Griscelli Syndrome
Encephalocele, Hydrocephalus ORPHA:381
Cerebellofaciodental Syndrome
Hypoplasia of the pons, Cryptorchidism, Hypoplasia of the midbrain, Ventriculomegaly OMIM:616202
Dpm1-Cdg
Pontocerebellar atrophy, Depressed nasal bridge, External genital hypoplasia, Ventriculomegaly ORPHA:79322
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Short nose, Ventriculomegaly OMIM:615851
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Ventriculomegaly, Chronic lung disease, Hypospadias, Apnea, Depressed na... ORPHA:397715
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Mpdu1-Cdg
Wide anterior fontanel, Ventriculomegaly ORPHA:79323
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Depressed nasal bridge, Dandy-Walker malformation OMIM:612582
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Cataract, Iris coloboma, Corneal scarring OMIM:212550
Achondroplasia
Respiratory distress, Depressed nasal bridge, Hydrocephalus, Upper airway obstruction, Brain stem... OMIM:100800
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central apnea, Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Precoci... ORPHA:98754
Malan Syndrome
Short nose, Ventriculomegaly OMIM:614753
Prader-Willi Syndrome
Narrow nasal bridge, Small scrotum, External genital hypoplasia, Precocious puberty, Cryptorchidi... ORPHA:739
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus, Depressed nasal bridge, Wide nasal bridge OMIM:104350
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Prominent nasal bridge, Narrow nasal ridge, Hydrocephalus, Narrow ... OMIM:616914
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Short columella, Polymicrogyria, Ventriculomegaly OMIM:619775
Magel2-Related Prader-Willi-Like Syndrome
Narrow nasal bridge, Small scrotum, External genital hypoplasia, Precocious puberty, Cryptorchidi... ORPHA:398069
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Pontocerebellar Hypoplasia, Type 2B
Hypoplasia of the brainstem, Simplified gyral pattern, Ventriculomegaly OMIM:612389
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Myelopathy, Increased CSF lactate, Bradypnea, Cervical myelopathy, Respiratory failure, Ventricul... OMIM:617186
Campomelic Dysplasia
Depressed nasal bridge, Tracheomalacia, Male pseudohermaphroditism, Respiratory insufficiency, Ab... ORPHA:140
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Microcephaly 30, Primary, Autosomal Recessive
Choanal stenosis, Ventriculomegaly OMIM:620183
Smith-Magenis Syndrome
Depressed nasal bridge, Anteverted nares, Precocious puberty, Wide nasal bridge, Short nose, Vent... ORPHA:819
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Ventriculomegaly OMIM:618314
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Hydrocephalus, Hydranencephaly, Spina bifida ORPHA:2839
Icf Syndrome
Communicating hydrocephalus, Depressed nasal bridge ORPHA:2268
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Abnormal morphology of female internal genitalia ORPHA:1834
Neu-Laxova Syndrome
Ventriculomegaly, External genital hypoplasia, Spina bifida, Abnormal cortical gyration, Depresse... ORPHA:2671
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad... ORPHA:95699
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central apnea, Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Precoci... ORPHA:98793
Coccidioidomycosis
Respiratory distress, Abnormal sperm morphology, Pneumonia, CSF pleocytosis, Hydrocephalus, CSF l... ORPHA:228123
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Depressed nasal bridge, Choanal atresia, Abnormal cortical gyration, Promin... OMIM:300968
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate ORPHA:90065
Combined Oxidative Phosphorylation Deficiency 39
Pachygyria, Simplified gyral pattern, Ventriculomegaly, Increased CSF lactate OMIM:618397
Cerebellar-Facial-Dental Syndrome
Anteverted nares, Abnormal midbrain morphology, Hypoplasia of the pons, Cryptorchidism, Wide nasa... ORPHA:444072
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Short nose, Wide nasal bridge, Ventriculomegaly, Broad nasal tip OMIM:614749
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central apnea, Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Precoci... ORPHA:177904
Sotos Syndrome
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Cryptorchidism, Enlarged naris, Ventri... OMIM:117550
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hydrocephalus, Hypoplasia of the uterus, Colpocephaly, Chordee, Micropeni... OMIM:309801
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central apnea, Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Precoci... ORPHA:177901
Mucopolysaccharidosis Type 1
Sinusitis, Apnea, Depressed nasal bridge, Abnormal nasal morphology, Hydrocephalus, Cough, Thick ... ORPHA:579
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Broad nasal tip, Cryptorchidism, Abnormality of the uterus, Abnormal fallopian tube morphology, M... ORPHA:1655
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Anteverted nares, Penile hypospadias, Recurrent aspiration pneumonia, Ventriculomegaly ORPHA:73230
Marshall-Smith Syndrome
Apnea, Choanal atresia, Anteverted nares, Depressed nasal bridge, Bilateral cryptorchidism, Crypt... OMIM:602535
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Ventriculomegaly OMIM:619074
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus, Wide anterior fontanel, Anteverted nares OMIM:182212
Amish Lethal Microcephaly
Ventriculomegaly, Lissencephaly, Spina bifida ORPHA:99742
Neu-Laxova Syndrome 2
Ventriculomegaly, Depressed nasal ridge, Spina bifida, Lissencephaly OMIM:616038
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Neonatal respiratory distress, Hydrocephalus, Abnormality of neuronal migration, Pachygyria, Poly... ORPHA:228308
Gillespie Syndrome
Ventriculomegaly OMIM:206700
Fumarase Deficiency
Anteverted nares, Depressed nasal bridge, Choroid plexus cyst, Hypoplasia of the brainstem, Lisse... OMIM:606812
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Carney Complex
Ovarian dermoid cyst, Sertoli cell neoplasm, Abnormal sperm motility, Testicular neoplasm, Precoc... ORPHA:1359
Carey-Fineman-Ziter Syndrome
Short nose, Anteverted nares, Glandular hypospadias, Ventriculomegaly ORPHA:1358
Xeroderma Pigmentosum, Complementation Group B
Hypogonadism, Ventriculomegaly OMIM:610651
Basel-Vanagaite-Smirin-Yosef Syndrome
Clitoral hypertrophy, Hypospadias, Anteverted nares, Recurrent pneumonia, Pulmonary arterial hype... OMIM:616449
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Ventriculomegaly OMIM:618381
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Saul-Wilson Syndrome
Narrow nasal bridge, Wide anterior fontanel, Convex nasal ridge, Ventriculomegaly OMIM:618150
Cerebrofacioarticular Syndrome
Hypospadias, Bilateral choanal atresia/stenosis, Wide nasal bridge, Gray matter heterotopia, Trac... ORPHA:314679
Pitt-Hopkins Syndrome
Intermittent hyperventilation, Cryptorchidism, Flared nostrils, Wide nasal bridge, Micropenis, Ve... OMIM:610954
Thakker-Donnai Syndrome
Communicating hydrocephalus, Bulbous nose, Anteverted nares, Rectovaginal fistula ORPHA:1780
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Hypoplasia of the pons, Simplified gyral pattern, Respiratory insuffici... OMIM:615574
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Cryptorchidism, Micropenis, Wide nasal bridge, Ventriculomegaly OMIM:235255
Apert Syndrome
Depressed nasal bridge, Choanal atresia, Cryptorchidism, Hydrocephalus, Choanal stenosis, Vaginal... OMIM:101200
Mohr Syndrome
Bifid nasal tip, Hydrocephalus, Depressed nasal bridge, Broad nasal tip OMIM:252100
Carnitine Palmitoyltransferase Ii Deficiency
Neonatal respiratory distress, Hydrocephalus, Abnormality of neuronal migration, Pachygyria, Poly... ORPHA:157
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Apnea, Ventriculomegaly ORPHA:395
Prader-Willi Syndrome
Narrow nasal bridge, Hypoventilation, Small scrotum, Hypogonadotropic hypogonadism, External geni... OMIM:176270
Xfe Progeroid Syndrome
Premature ovarian insufficiency, Convex nasal ridge, Ventriculomegaly OMIM:610965
Kleefstra Syndrome
Hypoplasia of penis, Hypospadias, Anteverted nares, Cryptorchidism, Dyspnea, Short nose, Tracheom... ORPHA:261494
Holoprosencephaly 9
Depressed nasal bridge, Abnormal cortical gyration, Cryptorchidism, Hydrocephalus, Single naris, ... OMIM:610829
Thoracoabdominal Syndrome
Anencephaly, Hydrocephalus, Hypospadias OMIM:313850
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Anteverted nares, Apnea, Cryptorchidism, Ventriculomegaly ORPHA:2462
Dubowitz Syndrome
Hypospadias, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Asthma, Wide anterior fontane... ORPHA:235
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Convex nasal ridge, Hydrocephalus, Hypoplasia of the ovary, Micropenis, Decreased testicular size... OMIM:619321
Pentalogy Of Cantrell
Encephalocele, Anencephaly, Hydrocephalus, Hypospadias ORPHA:1335
7Q11.23 Microduplication Syndrome
Hypospadias, Broad nasal tip, Cryptorchidism, Hydrocephalus, Simplified gyral pattern, Abnormal c... ORPHA:96121
Mend Syndrome
Prominent nasal bridge, Cryptorchidism, Hydrocephalus, Bulbous nose, Dandy-Walker malformation OMIM:300960
Cryptococcosis
Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Cough, Pleural effusion, Prostatitis ORPHA:1546
Fanconi Anemia, Complementation Group W
Ventriculomegaly OMIM:617784
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Ventriculomegaly, Respiratory insufficiency, Spina bifida ORPHA:1120
Toriello-Carey Syndrome
Neonatal respiratory distress, Cryptorchidism, Wide anterior fontanel, Short nose, Dandy-Walker m... ORPHA:3338
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Ventriculomegaly, Aspiration pneumonia ORPHA:431361
Fraser Syndrome 1
Encephalocele, Wide nose, Cleft ala nasi, Hypospadias, Depressed nasal bridge, Abnormal cortical ... OMIM:219000
Craniopharyngioma
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism, Abnormal nasal bone morphology ORPHA:54595
1P31P32 Microdeletion Syndrome
Ventriculomegaly ORPHA:401986
Cardiomyopathy, Familial Hypertrophic, 27
Ventriculomegaly OMIM:618052
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Abnormal brainstem morphology ORPHA:2720
Takenouchi-Kosaki Syndrome
Hypospadias, Cryptorchidism, Bulbous nose, Flared nostrils, Wide nasal bridge, Ventriculomegaly OMIM:616737
Dextrocardia
Abnormal reproductive system morphology, Hydrocephalus ORPHA:1666
Chromosome 18Q Deletion Syndrome
Hypospadias, Depressed nasal bridge, Prominent nose, Cryptorchidism, Asthma, Choanal stenosis, Mi... OMIM:601808
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Prominent nasal bridge, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Cry... ORPHA:468631
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Hypoplasia of the pons, Ventriculomegaly, Increased CSF lactate ORPHA:500144
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Fryns Syndrome
Hypospadias, Anteverted nares, Cryptorchidism, Wide nasal bridge, Bicornuate uterus, Dandy-Walker... ORPHA:2059
Distal Deletion 3P
Cryptorchidism, Anteverted nares, Ventriculomegaly ORPHA:1620
Beck-Fahrner Syndrome
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly OMIM:618798
Meckel Syndrome
Encephalocele, True hermaphroditism, Cryptorchidism, Male pseudohermaphroditism, Hydrocephalus, A... ORPHA:564
Shashi-Pena Syndrome
Mild fetal ventriculomegaly, Ventriculomegaly, Broad nasal tip OMIM:617190
Aymé-Gripp Syndrome
Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Short nose, Ventriculomegaly ORPHA:1272
Cardiofaciocutaneous Syndrome
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Short nose ORPHA:1340
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Hypercapnia, Respiratory insufficiency, Apneic episodes in infancy, Ventriculomegaly OMIM:618222
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Anteverted nares, Wide nasal bridge, Lobar holoprosencephaly, Short nose, Ventriculomegaly OMIM:614701
Monosomy 9Q22.3
Hydrocephalus, Ovarian fibroma, Short nose, Ventriculomegaly ORPHA:77301
Stromme Syndrome
Prominent nasal bridge, Hydrocephalus, Short columella, Wide nasal bridge OMIM:243605
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Prominent nose, Precocious puberty, Underdeveloped nasal alae, Wide nasal bridge, Abnormality of ... ORPHA:2637
Mosaic Trisomy 9
Hypoplasia of penis, Ventriculomegaly, Spina bifida, Cryptorchidism, Bulbous nose, Abnormality of... ORPHA:99776
2P15P16.1 Microdeletion Syndrome
Prominent nasal bridge, Wide nasal bridge, Hypogonadism, Prominent nasal tip, Decreased testicula... ORPHA:261349
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Congenital-Onset Steinert Myotonic Dystrophy
Neonatal respiratory distress, Ventriculomegaly ORPHA:589821
Kleefstra Syndrome Due To A Point Mutation
Precocious puberty, Tracheomalacia, Ventriculomegaly ORPHA:261652
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Ventriculomegaly ORPHA:466934
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:91350
Hurler Syndrome
Anteverted nares, Depressed nasal bridge, Broad nasal tip, Hydrocephalus, Wide nasal bridge OMIM:607014
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Cryptorchidism, Gray matter heterotopia, Pachygyria, Ventriculomegaly OMIM:620024
Mucopolysaccharidosis, Type Ii
Asthma, Hydrocephalus, Recurrent pneumonia, Tracheobronchomalacia, Airway obstruction OMIM:309900
Intellectual Disability-Alacrima-Achalasia Syndrome
Ventriculomegaly ORPHA:289483
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus, Wide nasal bridge, Respiratory insufficiency OMIM:620351
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Mye... OMIM:258040
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Leukodystrophy, Hypomyelinating, 12
Ventriculomegaly OMIM:616683
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Narrow nasal ridge, Underdeveloped nasal alae, Hypoplasia of the brainstem, Polymicrogyria, Ventr... OMIM:618343
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus OMIM:224400
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Choanal atresia, Absent external genitalia, Hydrocephalus, Sing... OMIM:273395
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Developmental And Epileptic Encephalopathy 80
Polymicrogyria, Wide nasal bridge, Ventriculomegaly OMIM:618580
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Lis... ORPHA:63259
Kabuki Syndrome
Hypoplasia of penis, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Short colume... ORPHA:2322
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Perisylvian polymicrogyria, Ventriculomegaly OMIM:619121
Combined Oxidative Phosphorylation Deficiency 14
Increased CSF lactate, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem OMIM:614946
Fanconi Anemia, Complementation Group L
Hydrocephalus, Wide nasal bridge, Depressed nasal tip, Aplasia of the uterus, Micropenis OMIM:614083
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus, Depressed nasal bridge, Short nose, Underdeveloped nasal alae OMIM:616007
Otopalatodigital Syndrome Type 2
Encephalocele, Hypospadias, Depressed nasal bridge, Myelomeningocele, Hydrocephalus, Short nose ORPHA:90652
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Curry-Jones Syndrome
Ventriculomegaly ORPHA:1553
Trisomy 8P
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Recurrent upper respirat... ORPHA:264450
Hennekam-Beemer Syndrome
Wide nose, Pneumonia, Long nose, Wide nasal bridge, Respiratory insufficiency, Ventriculomegaly ORPHA:2135
Hurler Syndrome
Anteverted nares, Depressed nasal bridge, Hydrocephalus, Wide nasal bridge, Rhinitis ORPHA:93473
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Simplified gyral pattern, Hypoplasia of the brainstem, Normal pressure hydrocephalus, Lissencepha... ORPHA:300570
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Apnea, Bulbous nose, Abnormality of neuronal migration, Respirator... OMIM:608836
Developmental And Epileptic Encephalopathy 84
Ventriculomegaly OMIM:618792
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Wide nasal bridge, Hypoplasia of the brainstem, Lateral ventricle dilat... ORPHA:572798
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, External genital hypoplasia,... OMIM:249000
Distal Deletion 6P
Wide nose, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Ventriculomegaly ORPHA:96125
Adams-Oliver Syndrome
Encephalocele, Pulmonary arterial hypertension, Hydrocephalus ORPHA:974
Congenital Myopathy 13
Hypercapnia, Cryptorchidism, Hypoxemia, Restrictive ventilatory defect, Ventriculomegaly OMIM:255995
Koolen-De Vries Syndrome
Prominent nasal bridge, Cryptorchidism, Bulbous nose, Pear-shaped nose, Gray matter heterotopia, ... OMIM:610443
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Musculocontractural Ehlers-Danlos Syndrome
Cryptorchidism, Pneumothorax, Prominent nasolabial fold, Short nose, Ventriculomegaly ORPHA:2953
De Sanctis-Cacchione Syndrome
Bilateral cryptorchidism, Decreased CSF 5-hydroxyindolacetic acid concentration, Ventriculomegaly... OMIM:278800
Mycophenolate Mofetil Embryopathy
Tracheomalacia, Hydrocephalus, Bifid nose ORPHA:268249
Spondyloepimetaphyseal Dysplasia, Krakow Type
Asthma, Hydrocephalus, Allergic rhinitis OMIM:618162
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Depressed nasal bridge, Lateral ventricle dilatation OMIM:619575
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules ORPHA:25
Lymphangioleiomyomatosis
Dyspnea, Hydrocephalus, Pneumothorax, Restrictive ventilatory defect, Chylothorax, Cough, Emphyse... ORPHA:538
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Choanal atresia, Epispadias,... ORPHA:2658
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Hypogonadism, Abnormal cortical gyration, Ventriculomegaly ORPHA:79351
Codas Syndrome
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Rectovaginal fistula, Ventriculomegaly OMIM:600373
Fanconi Anemia
Hypospadias, Choanal atresia, Spina bifida, Abnormal preputium morphology, Cryptorchidism, Hydroc... ORPHA:84
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Wide anterior fontanel, Anteverted nares, Ventriculomegaly, Broad nasal tip OMIM:618548
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Apnea, Abnormal cortical gyration, Respiratory insufficiency, Short nose, Ventriculomegaly OMIM:617527
Dural Sinus Malformation
Myelopathy, Hydrocephalus ORPHA:97339
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoplasia of the pons, Respiratory failure, Ventriculomegaly ORPHA:88618
Distal 22Q11.2 Microduplication Syndrome
Wide nose, Cryptorchidism, Hydrocephalus, Bulbous nose, Depressed nasal ridge ORPHA:261337
Galloway-Mowat Syndrome 9
Ventriculomegaly OMIM:619603
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Colpocephaly, Respiratory insufficiency, Ventriculomegaly, Low hanging columella OMIM:617260
Halperin-Birk Syndrome
Aspiration, Colpocephaly, Ventriculomegaly, Semilobar holoprosencephaly OMIM:618651
Developmental And Epileptic Encephalopathy 31B
Colpocephaly, Ventriculomegaly OMIM:620352
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Prominent nasal bridge, Testicular neoplasm, Spina bifida, Precocious puberty, Crypt... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Prominent nasal bridge, Testicular neoplasm, Spina bifida, Precocious puberty, Crypt... ORPHA:363958
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly ORPHA:2356
Tetrasomy 9P
Cryptorchidism, Oligozoospermia, Lissencephaly, Infertility, Umbilical hernia, Micropenis, Pachyg... ORPHA:3310
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Concave nasal ridge, Hypospadias, Ventriculomegaly OMIM:615471
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Short nose, Anteverted nares, Ventriculomegaly OMIM:612394
Hajdu-Cheney Syndrome
Wide nose, Hypospadias, Anteverted nares, Cryptorchidism, Hydrocephalus OMIM:102500
Gaucher Disease, Perinatal Lethal
Respiratory distress, Depressed nasal bridge, Anteverted nares, Apnea, Short nose, Ventriculomegaly OMIM:608013
Cerebrofaciothoracic Dysplasia
Wide nose, Short nose, Ventriculomegaly ORPHA:1394
Tbck-Related Intellectual Disability Syndrome
Cryptorchidism, Asthma, Bulbous nose, Wide nasal bridge, Respiratory insufficiency, Ventriculomegaly ORPHA:488632
Alg12-Cdg
Wide nose, Hypospadias, Prominent nasal bridge, Cryptorchidism, Recurrent pharyngitis, Recurrent ... ORPHA:79324
Plaa-Associated Neurodevelopmental Disorder
Apnea, Abnormal cortical gyration, Respiratory insufficiency, Short nose, Ventriculomegaly ORPHA:521426
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Ventriculomegaly, Hypospadias, Anteverted nares, Cryptorchidism,... ORPHA:2745
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion, Ventriculomegaly, CSF lymphocytic pleiocytosis ORPHA:292
Weaver Syndrome
Depressed nasal bridge, Cryptorchidism, Hydrocele testis, Lateral ventricle dilatation, Ventricul... OMIM:277590
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Respiratory distress, Wide nose, Hypospadias, Epispadias, Male pseudoh... ORPHA:2556
Osteootohepatoenteric Syndrome
Asthma, Hydrocephalus OMIM:619377
Au-Kline Syndrome
Wide nasal ridge, Prominent nasal bridge, Underdeveloped nasal alae, Bifid nasal tip, Cryptorchid... OMIM:616580
Kaufman Oculocerebrofacial Syndrome
Neonatal respiratory distress, Clitoral hypertrophy, Anteverted nares, Depressed nasal bridge, Hy... OMIM:244450
Isolated Sedoheptulokinase Deficiency
Neonatal asphyxia, Ventriculomegaly ORPHA:440713
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation OMIM:612301
Exstrophy-Epispadias Complex
Bifid scrotum, Spina bifida, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal tra... ORPHA:322
Cardiofaciocutaneous Syndrome 1
Anteverted nares, Depressed nasal bridge, Bulbous nose, Hydrocephalus, Short nose OMIM:115150
Ring Chromosome 7 Syndrome
Hypospadias, Anteverted nares, Prominent nasal bridge, Wide nasal bridge, Hydrocele testis, Hypog... ORPHA:1449
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Depressed nasal bridge, Broad nasal tip, Asthma, Bulbous nose, Wide nasal bridge, Abnormal nostri... ORPHA:466950
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus, Depressed nasal bridge ORPHA:1571
Raine Syndrome
Depressed nasal bridge, Choanal atresia, Hydrocephalus, Choanal stenosis, Short nose OMIM:259775
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Hypospadias, Apnea, Spina bifida, Depressed ... OMIM:114290
Cousin Syndrome
Hydranencephaly, Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male OMIM:260660
15Q Overgrowth Syndrome
Pulmonary arterial hypertension, Hydrocephalus, Wide nasal bridge, Dandy-Walker malformation ORPHA:314585
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Anencephaly, Respiratory insufficiency, Holoprosencephaly, Ambiguous genitalia OMIM:269860
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Respiratory failure, Ventriculomegaly OMIM:259720
Mucopolysaccharidosis, Type Vii
Hydrocephalus, Recurrent upper respiratory tract infections, Airway obstruction OMIM:253220
Basal Cell Nevus Syndrome 1
Ovarian fibroma, Spina bifida, Hydrocephalus, Wide nasal bridge, Ovarian carcinoma OMIM:109400
14Q22Q23 Microdeletion Syndrome
Cryptorchidism, Small scrotum, Ventriculomegaly, Underdeveloped nasal alae ORPHA:264200
Orofaciodigital Syndrome I
Abnormal cortical gyration, Underdeveloped nasal alae, Myelomeningocele, Hydrocephalus, Wide nasa... OMIM:311200
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Extra-axial cerebrospinal fluid accumulation, Apnea, Ventriculomegaly OMIM:619580
Coloboma, Ocular, Autosomal Dominant
Ventriculomegaly OMIM:120200
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ... OMIM:137920
Isotretinoin-Like Syndrome
Hydrocephalus, Anteverted nares ORPHA:2306
Bilateral Polymicrogyria
Perisylvian polymicrogyria, 4-layered lissencephaly, Ventriculomegaly, Aplasia/Hypoplasia of the ... ORPHA:268940
Fontaine Progeroid Syndrome
Small scrotum, Depressed nasal bridge, Periventricular heterotopia, Cryptorchidism, Hydrocephalus... OMIM:612289
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Anteverted nares, Repeated pneumothoraces, Depressed nasal bridge, Hydrocep... ORPHA:536467
Mucopolysaccharidosis, Type Vi
Depressed nasal bridge, Pneumonia, Hydrocephalus, Recurrent upper respiratory tract infections, C... OMIM:253200
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Lateral ventricle dilatation, Ventriculomegaly ORPHA:488627
Capillary Malformation-Arteriovenous Malformation
Chylothorax, Hydrocephalus, Epistaxis ORPHA:137667
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Prominent nasal bridge, Cryptorchidism, Abnormal brainstem morphology, Abnormality o... ORPHA:464311
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Micropenis, Hypergonadotropic hypogonadism, Hydrocephalus OMIM:227646
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Meningioma
Hypogonadotropic hypogonadism, Progressive pulmonary function impairment, Hydrocephalus, Abnormal... ORPHA:2495
Sturge-Weber Syndrome
Hydrocephalus, Pulmonary embolism ORPHA:3205
Gapo Syndrome
Depressed nasal bridge, Anteverted nares, Wide anterior fontanel, Short nose, Ventriculomegaly OMIM:230740
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Wide na... ORPHA:221139
Combined Oxidative Phosphorylation Deficiency 55
Depressed nasal bridge, Anteverted nares, Ventriculomegaly OMIM:619743
Mosaic Variegated Aneuploidy Syndrome
Ventriculomegaly, Wide nose, Apnea, Vaginal neoplasm, Depressed nasal ridge, Holoprosencephaly, A... ORPHA:1052
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Hypospadias, Anteverted nares, Septate vagina, Depressed nasal brid... OMIM:270400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Short nasal bridge, Type II lissencephaly, Hydrocephalus, Hypoplasia of the brainstem, Pachygyria... OMIM:253280
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Hydrocephalus, Azoospermia, Pulmonary arterial hypertension, Ve... ORPHA:2072
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Hydrocephalus, Stridor, Pulmonary arterial hypertension, Short nose, Airway... ORPHA:505248
Galloway-Mowat Syndrome 1
Narrow nasal ridge, Prominent nose, Pachygyria, Hypoplasia of the brainstem, Dandy-Walker malform... OMIM:251300
Familial Multiple Lipomatosis
Ventriculomegaly ORPHA:199276
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ventriculomegaly OMIM:304790
Pyruvate Carboxylase Deficiency
Increased CSF alanine concentration, Increased CSF citrulline concentration, Tachypnea, Increased... ORPHA:3008
Lenz-Majewski Hyperostotic Dwarfism
Hypospadias, Choanal atresia, Cryptorchidism, Chordee, Choanal stenosis, Spina bifida occulta, Ve... OMIM:151050
Hoyeraal-Hreidarsson Syndrome
Ventriculomegaly ORPHA:3322
2Q31.1 Microdeletion Syndrome
Cryptorchidism, Bulbous nose, Ventriculomegaly ORPHA:251014
Cockayne Syndrome A
Slender nose, Prominent nose, Cryptorchidism, Irregular menstruation, Normal pressure hydrocephal... OMIM:216400
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Prominent nasal bridge, Ventriculomegaly OMIM:617011
Chondrodysplasia Punctata 2, X-Linked Dominant
Ventriculomegaly, Concave nasal ridge, Dandy-Walker malformation OMIM:302960
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Hydrocephalus, Hypogonadism ORPHA:3042
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele, Polymicrogyria, Ventriculomegaly OMIM:601707
Medulloblastoma
Hydrocephalus ORPHA:616
Costello Syndrome
Anteverted nares, Depressed nasal bridge, Wide anterior fontanel, Hydrocephalus, Pneumothorax, Re... OMIM:218040
Pseudoaminopterin Syndrome
Cryptorchidism, Hydrocephalus, Prominent nasal bridge ORPHA:221120
Microphthalmia With Limb Anomalies
Cryptorchidism, Hydrocephalus, Depressed nasal bridge ORPHA:1106
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Anteverted nares, Hypospadias, Choanal atresia, Hypoplasia of the pons, Cryptorchidism, Bulbous n... OMIM:616975
Limb Body Wall Complex
Encephalocele, Depressed nasal bridge, Choanal atresia, Spina bifida, Myelomeningocele, Hydroceph... ORPHA:2369
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Depressed nasal bridge, Hypospadias, Cryptorchidism, Wide nasal bridge, Ventriculo... OMIM:616734
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Anteverted nares, Abnormal cortical gyration, Prominent nose, Cryptorchidism, Hydrocephalus, Resp... OMIM:210710
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Narrow nasal tip, Prominent nasal bridge, Cryptorchidism, Hypoplasia of the brainste... ORPHA:464306
Hydrolethalus Syndrome 1
Hypospadias, Abnormal cortical gyration, Bifid uterus, Anencephaly, Gray matter heterotopia, Midl... OMIM:236680
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Bulbous nose, Ventriculomegaly OMIM:614501
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Ventriculomegaly, Depressed nasal bridge, Wide nasal bridge, Primary amenorrhea OMIM:619418
Alobar Holoprosencephaly
Central apnea, Proboscis, Hydrocephalus, Abnormal brainstem morphology, Depressed nasal ridge, Si... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Proboscis, Hydrocephalus, Abnormal brainstem morphology, Depressed nasal ridge, Si... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Proboscis, Hydrocephalus, Abnormal brainstem morphology, Depressed nasal ridge, Si... ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Proboscis, Hydrocephalus, Abnormal brainstem morphology, Depressed nasal ridge, Si... ORPHA:220386
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Small scrotum, Hypospadias, Anteverted nares, Depressed nasal br... OMIM:269150
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Depressed nasal bridge, Broad nasal tip, Asthma, Nasal flaring, Bulbous nose, Wide nasal bridge, ... ORPHA:466943
Developmental And Epileptic Encephalopathy 100
Depressed nasal bridge, Broad nasal tip, Aspiration, Pachygyria, Polymicrogyria, Ventriculomegaly OMIM:619777
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus, Depressed nasal bridge OMIM:245600
Adnp Syndrome
Respiratory distress, Depressed nasal bridge, Cryptorchidism, Recurrent upper respiratory tract i... ORPHA:404448
Mucopolysaccharidosis Type 3
Adenoiditis, Hydrocephalus, Upper airway obstruction, Aspiration pneumonia, Thick nasal alae, Ven... ORPHA:581
Kabuki Syndrome 1
Premature thelarche, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Depressed nasal tip, Later... OMIM:147920
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Ventriculomegaly OMIM:619355
Histiocytoid Cardiomyopathy
Cough, Hydrocephalus, Tachypnea, Polycystic ovaries ORPHA:137675
Galloway-Mowat Syndrome 3
Pachygyria, Lissencephaly, Simplified gyral pattern, Ventriculomegaly OMIM:617729
22Q11.2 Deletion Syndrome
Hypospadias, Choanal atresia, Spina bifida, Prominent nasal bridge, Cryptorchidism, Hydrocephalus... ORPHA:567
Jacobsen Syndrome
Anteverted nares, Spina bifida, Cryptorchidism, Wide nasal bridge, Short nose, Pachygyria, Broad ... ORPHA:2308
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Micropenis, Prominent nasal bridge, Ventriculomegaly ORPHA:457359
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Hypospadias, Epistaxis, Prominent nasal bridge, Anteverted nares, De... OMIM:619841
Caribbean Parkinsonism
Ventriculomegaly ORPHA:97355
Osteopathia Striata With Cranial Sclerosis
Apnea, Hydrocephalus, Wide nasal bridge, Tracheomalacia, Spina bifida occulta OMIM:300373
Ogden Syndrome
Apnea, Depressed nasal bridge, Underdeveloped nasal alae, Bifid nasal tip, Cryptorchidism, Wide a... OMIM:300855
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, Hydrocephalus, Depressed nasal tip OMIM:208150
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hypospadias, Depressed nasal bridge, Broad nasal tip, Cryptorchidism, Bulbous nose, Short nose, M... OMIM:309590
Ctcf-Related Neurodevelopmental Disorder
Ventriculomegaly, Anteverted nares, Phimosis, Broad nasal tip, Cryptorchidism, Hypoplastic labia ... ORPHA:363611
Peters Plus Syndrome
Hypospadias, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Hypoplasia ... ORPHA:709
Hajdu-Cheney Syndrome
Wide nose, Hypospadias, Anteverted nares, Hydrocephalus, Wide nasal bridge ORPHA:955
Molybdenum Cofactor Deficiency, Complementation Group B
Short nose, Ventriculomegaly OMIM:252160
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Pleural effusion, Hydrocephalus, Apnea OMIM:261740
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus OMIM:616084
Molybdenum Cofactor Deficiency, Complementation Group A
Short nose, Ventriculomegaly OMIM:252150
Coffin-Siris Syndrome 12
Hypospadias, Prominent nasal bridge, Anteverted nares, Depressed nasal bridge, Underdeveloped nas... OMIM:619325
Baller-Gerold Syndrome
Prominent nasal bridge, Underdeveloped nasal alae, Wide anterior fontanel, Hydrocephalus, Perinea... OMIM:218600
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypospadias, Prominent nasal bridge, Premature thelarche, Underdeveloped nasal alae, Broad nasal ... ORPHA:268261
Wolf-Hirschhorn Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Aplasia of the... OMIM:194190
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia ORPHA:168577
Marden-Walker Syndrome
Abnormal penis morphology, Epispadias, Hydrocephalus, Hypospadias ORPHA:2461
Yunis-Varon Syndrome
Narrow nasal base, Hypospadias, Anteverted nares, Cryptorchidism, Hydrocephalus, Hypoplastic labi... ORPHA:3472
Neu-Laxova Syndrome 1
Ventriculomegaly, Wide nose, Spina bifida, Bifid uterus, Cryptorchidism, Choroid plexus cyst, Dep... OMIM:256520
Chromosome 1P36 Deletion Syndrome, Distal
Abnormal external genitalia, Hypospadias, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, ... OMIM:607872
Otopalatodigital Syndrome, Type Ii
Hypospadias, Depressed nasal bridge, Spina bifida, Cryptorchidism, Hydrocephalus, Wide anterior f... OMIM:304120
Slc39A8-Cdg
Sudden episodic apnea, Ventriculomegaly, Increased CSF lactate ORPHA:468699
Linear Nevus Sebaceus Syndrome
Ventriculomegaly, Dandy-Walker malformation ORPHA:2612
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Ventriculomegaly, Depressed nasal bridge, Wide nose, Urethrovaginal fistula,... ORPHA:93271
Bohring-Opitz Syndrome
Depressed nasal bridge, Apnea, Anteverted nares, Wide nasal bridge, Dandy-Walker malformation, Ve... ORPHA:97297
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Bulbous nose, Flared nostrils, Wide nasal bridge, Dandy-Walker malformation, Ventric... ORPHA:487796
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary arterial hypertension, Hydrocephalus, Pulmonary embolism ORPHA:79282
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Hypospadias, Anteverted nares, Hydrocephalus, Bulbous nose, Short nose, Wide nasal... OMIM:619475
Cockayne Syndrome B
Slender nose, Prominent nasal bridge, Cryptorchidism, Normal pressure hydrocephalus, Micropenis OMIM:133540
3-Methylglutaconic Aciduria, Type Viii
Apnea, Increased CSF lactate, Hypopnea, Respiratory failure, Respiratory arrest, Ventriculomegaly OMIM:617248
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Pneumonia, Anteverted nares, Depressed nasal bridge, Narrow nasal ridge, Cryptorchid... OMIM:264090
Combined Oxidative Phosphorylation Deficiency 3
Dyspnea, Respiratory failure, Respiratory insufficiency, Ventriculomegaly OMIM:610505
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Wide nose, Depressed nasal bridge, Bulbous nose, Perisylvian polymicrogyria, Ventriculomegaly OMIM:610442
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Hydrocephalus, Apnea, Chronic rhinitis ORPHA:667
Adams-Oliver Syndrome 1
Encephalocele, Polymicrogyria, Pulmonary arterial hypertension, Pachygyria, Imperforate hymen, Ve... OMIM:100300
Schinzel-Giedion Syndrome
Respiratory distress, Streak ovary, Hypospadias, Broad nasal tip, Wide anterior fontanel, Recurre... ORPHA:798
Full Nf2-Related Schwannomatosis
Myelopathy, Brain stem compression, Hydrocephalus ORPHA:637
Coffin-Lowry Syndrome
Wide nose, Anteverted nares, Thick nasal septum, Uterine prolapse, Short nose, Thick nasal alae, ... OMIM:303600
Cystic Fibrosis
Male infertility, Nasal polyposis, Reduced forced expiratory volume in one second, Reduced forced... OMIM:219700
Aicardi Syndrome
Precocious puberty, Pachygyria, Polymicrogyria, Ventriculomegaly ORPHA:50
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Neonatal respiratory distress, Ventriculomegaly OMIM:618164
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Otosclerosis, Wide nose, Recurrent upper respiratory tract infection... ORPHA:580
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Choanal atresia, Bifid uterus, Cryptorchidism,... OMIM:107480
Knobloch Syndrome 1
Occipital encephalocele, Depressed nasal bridge, Bulbous nose, Occipital meningocele, Spina bifid... OMIM:267750
Focal Dermal Hypoplasia
Narrow nasal bridge, Cleft ala nasi, Broad nasal tip, Cryptorchidism, Hydrocephalus, Myelomeningo... OMIM:305600
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Cryptorchidism, Pneumothorax, Short columella, Short nose, Ventriculomegaly OMIM:601776
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Depressed nasal bridge, Anteverted nares, Tracheomalacia, Prominent nasal tip, Pachygyria, Ventri... ORPHA:513456
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Dilated fourth ventricle, Respiratory distress, Depressed nasal bridge, Choanal atresia, Abnormal... ORPHA:480880
Neurofibromatosis Type 1
Precocious puberty, Cryptorchidism, Hydrocephalus ORPHA:636
Proboscis Lateralis
External genital hypoplasia, Proboscis, Choanal atresia, Single naris, Holoprosencephaly, Ventric... ORPHA:141099
Gaucher Disease
Pulmonary arterial hypertension, Hydrocephalus, Respiratory insufficiency, Ventriculomegaly ORPHA:355
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Depressed nasal bridge, Pneumonia ORPHA:309282
Witteveen-Kolk Syndrome
Wide nose, Unilateral cryptorchidism, Hypospadias, Prominent nasal bridge, Phimosis, Anteverted n... OMIM:613406
Osteogenesis Imperfecta
Neonatal respiratory distress, Hydrocephalus, Noncommunicating hydrocephalus, Brain stem compress... ORPHA:666
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory failure, Tachypnea, Respiratory insufficiency, Ventriculomegaly OMIM:618278
Split Cord Malformation
Hypospadias, Cervical spina bifida, Myelomeningocele, Meningocele, Lipomyelomeningocele, Hydrocep... ORPHA:573278
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Cryptorchidism, Hydrocephalus, Wide anterior fontanel, Hyp... OMIM:261540
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Underdeveloped nasal alae, Cryptorchidism, Hydrocephalus, Lon... OMIM:268300
Gabriele-De Vries Syndrome
Cryptorchidism, Bulbous nose, Ventriculomegaly ORPHA:506358
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Depressed nasal bridge, Cryptorchidism, Depressed nasal ridge, ... ORPHA:1606
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility ORPHA:99413
Mosaic Monosomy X
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility ORPHA:99228
Monosomy X
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility ORPHA:99226
Turner Syndrome
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility ORPHA:881
Cornelia De Lange Syndrome
Hypoplasia of penis, Hypospadias, Choanal atresia, Anteverted nares, Depressed nasal bridge, Cryp... ORPHA:199
Simpson-Golabi-Behmel Syndrome, Type 1
Neonatal respiratory distress, Hypospadias, Anteverted nares, Depressed nasal bridge, Cryptorchid... OMIM:312870
Noonan Syndrome 1
Male infertility, Cryptorchidism, Hypogonadism, Hypospadias OMIM:163950
Wiedemann-Rautenstrauch Syndrome
Hypogonadotropic hypogonadism, Hypospadias, Wide nasal ridge, Anteverted nares, Cryptorchidism, H... ORPHA:3455
Mowat-Wilson Syndrome
Bifid scrotum, Hypospadias, Cryptorchidism, Wide nasal bridge, Prominent nasal tip, Ventriculomeg... OMIM:235730
Hydranencephaly
Ventriculomegaly ORPHA:2177
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure, Noncommunicating hydrocephalus, Subependymal nodules ORPHA:805
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Cystinosis, Nephropathic
Male infertility, Male hypogonadism OMIM:219800
Lowe Oculocerebrorenal Syndrome
Cryptorchidism, Ventriculomegaly OMIM:309000
Primrose Syndrome
Anteverted nares, Hypergonadotropic hypogonadism, Depressed nasal bridge, Broad nasal tip, Bilate... OMIM:259050
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus, Sinusitis ORPHA:363700
Alström Syndrome
Precocious puberty in females, Hypergonadotropic hypogonadism, Testicular fibrosis, Irregular men... ORPHA:64
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypospadias, Cryptorchidism, Recurrent upper respiratory tract infections, Choanal stenosis, Vent... OMIM:308205
Loeys-Dietz Syndrome 2
Hydrocephalus, Spontaneous pneumothorax OMIM:610168
Microphthalmia, Syndromic 6
Cryptorchidism, Small scrotum, Female hypogonadism, Ventriculomegaly OMIM:607932
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus OMIM:164210

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 Cfap206

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 Cfap206.

No publications found that use IMPC mice or data for Cfap206.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Cfap206em1(IMPC)Mbp Exon Deletion Mice, Tissue
Cfap206tm33834(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cfap206tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cfap206tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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