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Gene: Cnpy4 MGI:1913705

Gene Summary

Name:

canopy FGF signaling regulator 4

Synonyms:

2610019P18Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
hydrocephaly	Cnpy4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal digit morphology	Cnpy4^{em1(IMPC)Ccpcz}	HOM	Early adult	7.95×10^-05
microphthalmia	Cnpy4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal brain morphology	Cnpy4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal eye morphology	Cnpy4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00

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Viewing: all phenotypes

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

32 Images

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X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Forepaw

16 Images

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Human diseases caused by Cnpy4 mutations

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

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

Human diseases associated with Cnpy4 (0 diseases)
Human diseases predicted to be associated with Cnpy4 (916 diseases)

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

The table below shows human diseases predicted to be associated to Cnpy4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spermatogenic Failure 17	Male infertility	OMIM:617214
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 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 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
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
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Oocyte/Zygote/Embryo Maturation Arrest 16	Infertility	OMIM:617234
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Nondisjunction	Decreased fertility	OMIM:158250
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
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 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
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 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
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 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
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
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
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, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
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 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Gombo Syndrome	Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly	OMIM:233270
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
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
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Craniofacial Conodysplasia	Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand	ORPHA:85168
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly	OMIM:615938
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Isochromosomy Yp	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98797
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
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 75	Male infertility, Non-obstructive azoospermia	OMIM:619949
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Spermatogenic Failure, X-Linked, 6	Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai...	OMIM:301101
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly	OMIM:615937
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Microphthalmia, Isolated 4	Microphthalmia, Postaxial polydactyly	OMIM:613094
Spermatogenic Failure 38	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h...	OMIM:618433
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Obstructive azoospermia	OMIM:301060
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella...	OMIM:620356
Cerebrooculofacioskeletal Syndrome 3	Talipes equinovarus, Microphthalmia, Rocker bottom foot, Ventriculomegaly	OMIM:616570
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Rhizomelia	OMIM:166990
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Hydrocephalus, Ventriculomegaly	OMIM:614830
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Biemond Syndrome Ii	Preaxial hand polydactyly, Hydrocephalus	OMIM:210350
Biemond Syndrome Type 2	Microphthalmia, Hydrocephalus, Preaxial polydactyly	ORPHA:141333
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Isochromosomy Yq	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98798
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia	OMIM:277180
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han...	ORPHA:380
Mmep Syndrome	Microphthalmia, Split foot, Triphalangeal thumb	ORPHA:3434
Adams-Oliver Syndrome 4	Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Mi...	OMIM:615297
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia	OMIM:108420
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Clinodactyly, Microphthalmia, Brachydactyly, Syndactyly	OMIM:610023
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Kleeblattschaedel	Hydrocephalus, Elbow ankylosis	OMIM:148800
Masa Syndrome	Hydrocephalus, Talipes equinovarus, Ventriculomegaly, Adducted thumb	OMIM:303350
Hydrolethalus Syndrome 2	Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot polydactyly, Preaxial foot...	OMIM:614120
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
2Q24 Microdeletion Syndrome	Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux...	ORPHA:1617
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia	OMIM:620103
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Enlarged epiphyses, Metaphyseal dysplasia, Proximal placement of thumb, Hypoplastic ilia, Hydroce...	OMIM:613330
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of meta...	OMIM:300863
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Hydrocephalus	ORPHA:1528
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand...	OMIM:175700
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ...	ORPHA:1553
Nanophthalmos	Microphthalmia	ORPHA:35612
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
1Q21.1 Microduplication Syndrome	Hydrocephalus, Hip dysplasia, Hip dislocation, Talipes equinovarus	ORPHA:250994
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility	OMIM:264110
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Hydrocephalus, Polydactyly, Microphthalmia, Ventriculomegaly	OMIM:602501
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Spermatogenic Failure 28	Male infertility, Non-obstructive azoospermia, Decreased testicular size	OMIM:618086
Congenital Varicella Syndrome	Microphthalmia, Micromelia	ORPHA:291
Acalvaria	Holoprosencephaly, Postaxial hand polydactyly, Hydrocephalus, Spina bifida	ORPHA:945
Nanophthalmos 4	Microphthalmia	OMIM:615972
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Hartsfield Syndrome	Encephalocele, Split hand, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, Microphthalmia	ORPHA:2117
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Thumb contracture, Hydrocephalus, Adducted thumb	OMIM:307000
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta...	OMIM:611561
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Hydrocephalus...	ORPHA:163966
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Facial Clefting, Oblique, 1	Microphthalmia, Deep palmar crease	OMIM:600251
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Microphthalmia With Limb Anomalies	Anophthalmia, Toe syndactyly, Single transverse palmar crease, Sandal gap, Capitate-hamate fusion...	OMIM:206920
Developmental And Epileptic Encephalopathy 36	Hydrocephalus, Small hand	OMIM:300884
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po...	OMIM:603194
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Microphthalmia	OMIM:614082
Frontonasal Dysplasia 1	Postaxial hand polydactyly, Anterior basal encephalocele, Pectoral muscle hypoplasia/aplasia, Rad...	OMIM:136760
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Pierpont Syndrome	Short toe, Deep palmar crease, Short finger, Prominent fingertip pads, Microphthalmia, Ventriculo...	ORPHA:487825
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, ...	OMIM:611134
Congenital Hydrocephalus	Hydrocephalus, Macular hypoplasia, Ventriculomegaly, Colpocephaly	ORPHA:2185
Ventriculomegaly With Defects Of The Radius And Kidney	Bowed forearm bones, Absent thumb, Absent radius, Hydrocephalus, Lateral ventricle dilatation, Fo...	OMIM:602200
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Microphthalmia	OMIM:615771
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short...	OMIM:169550
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb	OMIM:609054
Temtamy Syndrome	Short toe, Genu varum, Clinodactyly of the 5th finger, Microphthalmia, Brachydactyly	ORPHA:1777
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Polydactyly, Talipes equinovarus, Microphth...	OMIM:613885
Meckel Syndrome, Type 3	Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P...	OMIM:607361
Moebius Syndrome	Syndactyly, Brachydactyly, Clinodactyly, Split hand, Abnormal pelvic girdle bone morphology, Tali...	OMIM:157900
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus, Epiphyseal stippling, Aplasia/Hypoplasia affecting the eye, Shor...	ORPHA:1914
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus, Elbow flexion contracture	OMIM:619470
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Adducted thumb	ORPHA:2182
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Hydrocephalus	OMIM:601794
Edinburgh Malformation Syndrome	Long fingers, Hydrocephalus, Ulnar deviation of finger, Aplasia/Hypoplasia affecting the eye, Sle...	ORPHA:1895
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Anophthalmia, Orbital encephalocele, Microphthalmia, Dandy-Walker mal...	OMIM:164180
Lissencephaly 8	Microphthalmia, Occipital encephalocele, Talipes equinovarus, Ventriculomegaly	OMIM:617255
Pelvis-Shoulder Dysplasia	Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Aplasia/Hypoplasia...	ORPHA:2839
6P22 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Hydrocephalus	ORPHA:251046
Joubert Syndrome 22	Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, 2-3 toe syndactyly	OMIM:615665
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Hydrocephalus, Halberd-shaped pelvis, Clinodactyly of the 5t...	ORPHA:2635
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Shoulder dislocation, Arachnodactyly, Hydrocephalus, Adducted thumb	ORPHA:2181
Diencephalic Syndrome	Large hands, Hydrocephalus	ORPHA:1672
Pierpont Syndrome	Short toe, Broad palm, Short foot, Deep palmar crease, Short finger, Short palm, Prominent finger...	OMIM:602342
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Radial Aplasia, X-Linked	Absent radius, Hydrocephalus	OMIM:312190
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal morphology of the radius	ORPHA:3469
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge...	ORPHA:1106
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Ventriculomegaly, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydacty...	OMIM:617866
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Abnormal epiphysis morphology,...	ORPHA:93267
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Gracile Bone Dysplasia	Hydrocephalus, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Brachydactyly	OMIM:602361
Congenital Toxoplasmosis	Microphthalmia, Hydrocephalus, Ventriculomegaly	ORPHA:858
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Cousin Syndrome	Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio...	OMIM:260660
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Ventriculomegaly, Dislocated radial head	OMIM:304100
Spermatogenic Failure 14	Male infertility, Azoospermia	OMIM:615842
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Macroorchidism, Oligozoospermia	ORPHA:3000
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
L1 Syndrome	Aqueductal stenosis, Hydrocephalus, Adducted thumb	ORPHA:275543
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Lateral ventricle dilatatio...	OMIM:618914
Hydrocephalus-Obesity-Hypogonadism Syndrome	Cubitus valgus, Hydrocephalus, Short 4th metacarpal	ORPHA:2183
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Talipes equinovarus	OMIM:616171
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia	OMIM:301077
Warburg Micro Syndrome 1	Microphthalmia, Enlarged sylvian cistern, Overlapping toe	OMIM:600118
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Camptodactyly of finger, Ventriculomegaly	ORPHA:48431
Fanconi Anemia, Complementation Group R	Microphthalmia, Hydrocephalus, Radial dysplasia, Absent thumb	OMIM:617244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Hydrocephalus, Optic nerve hypoplasia	OMIM:615181
Adams-Oliver Syndrome 2	Single transverse palmar crease, Hydrocephalus, Lateral ventricle dilatation, Absent distal phala...	OMIM:614219
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Postaxial hand polydactyly, Hydrocephalus	ORPHA:83473
Fried Syndrome	Hydrocephalus	ORPHA:85335
Pallister-Hall-Like Syndrome	Occipital encephalocele, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Hydrocephalus, H...	OMIM:241800
Czeizel-Losonci Syndrome	Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Myelomeningocele, Hydrocephalus,...	ORPHA:2437
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Clinodactyly, Ulnar deviation of the wrist, Hydrocephalus, Ventriculomegaly	OMIM:618577
Cofs Syndrome	Microphthalmia, Camptodactyly of finger	ORPHA:1466
Achondroplasia	Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Hydroc...	ORPHA:15
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Aase-Smith Syndrome I	Slender finger, Hydrocephalus, Talipes equinovarus, Dandy-Walker malformation	OMIM:147800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Hydrocephalus	OMIM:613155
17Q12 Microduplication Syndrome	Microphthalmia, Toe syndactyly, Finger syndactyly	ORPHA:261272
Microphthalmia, Syndromic 8	Microphthalmia, Split foot	OMIM:601349
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Radial club hand, Hydrocephalus, Absent thumb	OMIM:276950
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand	ORPHA:2547
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Metaphyseal widening, Hydr...	OMIM:224400
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus	OMIM:619302
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s...	ORPHA:93259
Bartsocas-Papas Syndrome 2	Microphthalmia, 2-5 finger cutaneous syndactyly, Absent distal phalanges, Small hand	OMIM:619339
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cubitus valgus, Microphthalmia, Down-sloping shoulders, Camptodactyly	OMIM:619694
Braddock-Carey Syndrome 2	Microphthalmia, Clinodactyly	OMIM:619981
Mohr Syndrome	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Hydrocephalus, Flared metaphys...	OMIM:252100
Cat-Eye Syndrome	Microphthalmia, Hip dysplasia	ORPHA:195
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Postaxial hand polydactyly, Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand, Ge...	OMIM:615630
Hydrolethalus	Anophthalmia, Micromelia, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Microphthalmia	ORPHA:2189
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Clinodactyly of the 5th finger, Hydrocephalus	ORPHA:1516
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Paresis of extensor muscles of the big toe, Abnormality of the hand, Hand muscle weakness, Hydroc...	ORPHA:99947
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:613153
Thanatophoric Dysplasia	Micromelia, Abnormal sacroiliac joint morphology, Hydrocephalus, Hip dysplasia, Abnormal ilium mo...	ORPHA:2655
Thanatophoric Dysplasia Type 2	Encephalocele, Micromelia, Hydrocephalus, Holoprosencephaly, Abnormal metaphysis morphology, Vent...	ORPHA:93274
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Bilateral talipes equinovarus	OMIM:618174
Temtamy Syndrome	Hip dislocation, Short 2nd toe, Talipes equinovarus, Microphthalmia, Ventriculomegaly, Brachydactyly	OMIM:218340
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo...	ORPHA:1860
Curry-Jones Syndrome	Occipital meningocele, Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningoc...	OMIM:601707
Pfeiffer Syndrome	Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H...	OMIM:101600
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Postaxial hand polydactyly, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
Temple Syndrome	Clinodactyly of the 5th finger, Hydrocephalus, Small hand, Short foot	ORPHA:254516
Hogue-Janssen Syndrome 2	Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Deviation of the 5th finger, V...	OMIM:616362
Muenke Syndrome	Tarsal synostosis, Hydrocephalus, Cone-shaped epiphysis, Short foot, Short palm, Carpal synostosis	ORPHA:53271
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Coxa valga, Elbow flexion contracture, Second metatarsal posteriorly placed, ...	OMIM:214150
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Aqueductal stenosis, Short tibia, Humeroradial synostosi...	OMIM:251230
Sandestig-Stefanova Syndrome	Rocker bottom foot, Camptodactyly, Microphthalmia, Clinodactyly, Ventriculomegaly, Bilateral sing...	OMIM:618804
Bresek Syndrome	Microphthalmia, Postaxial hand polydactyly, Hydrocephalus, Optic nerve hypoplasia	ORPHA:85284
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Coxa valga, Hydrocephalus, Hip dislocation, Ventriculomegaly	OMIM:109120
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Bilateral talipes equinovarus	OMIM:616521
Mosaic Trisomy 1	Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Single transverse palmar crease, Rocker bott...	ORPHA:1692
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Hydrocephalus, Men...	ORPHA:1908
Osteoporosis-Pseudoglioma Syndrome	Crumpled long bones, Metaphyseal widening, Abnormal femoral neck/head morphology, Microphthalmia,...	ORPHA:2788
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Coxa valga, Abnormality of the elbow, Flat acetabular roof, Flattened epiphysis, Hemiatrophy of u...	ORPHA:163649
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Ventriculomegaly	OMIM:613730
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Martsolf Syndrome 1	Enlarged sylvian cistern, Short metacarpal, Ventriculomegaly, Metatarsus adductus, Slender ulna, ...	OMIM:212720
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Brachydactyly, Absent toe, Split hand, Hydrocephalus, Absent ha...	ORPHA:974
Cerebrooculofacioskeletal Syndrome 4	Rocker bottom foot, Camptodactyly of finger, Bilateral microphthalmos, Flared metaphysis, Hip dis...	OMIM:610758
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand...	OMIM:609945
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly, Postaxial polydactyly, Abnormally large globe	OMIM:603387
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Rhombencephalosynapsis	Finger syndactyly, Septo-optic dysplasia, Hydrocephalus, Polydactyly, Complete duplication of thu...	ORPHA:59315
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Hydrocephalus, Radioulnar synostosis, Short palm	ORPHA:171839
2Q31.1 Microdeletion Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,...	ORPHA:251014
Aicardi-Goutieres Syndrome 4	Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis	OMIM:610333
Albers-Schönberg Osteopetrosis	Hydrocephalus, Genu valgum, Abnormal epiphysis morphology, Abnormal metacarpal morphology, Abnorm...	ORPHA:53
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Camptodactyly of finger, Ventriculomegaly	ORPHA:272
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Oculofaciocardiodental Syndrome	Cubitus valgus, Short thumb, 2-3 toe syndactyly, Broad palm, Genu valgum, Hammertoe, Flexion cont...	ORPHA:2712
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul...	OMIM:616034
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Ventriculomegaly	OMIM:308350
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Overlapping toe, Hydrocephalus, Cutaneous syndactyly, Talipes equinovarus, Camp...	OMIM:617822
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Hydrocephalus, Hand polydactyly, Foot polydactyly, Ventriculom...	ORPHA:60040
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Sandal gap	OMIM:300887
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, Microph...	ORPHA:139471
3P25.3 Microdeletion Syndrome	Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Congenital pseudoarth...	ORPHA:435638
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Hypoplasia of the radius, Ectrodactyly, Oligodactyly	ORPHA:3016
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Optic disc hypoplasia, Sandal g...	OMIM:607323
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Brachydactyly, Hydrocephalus, Abnormal metacarpal morphology	ORPHA:93262
Nasu-Hakola Disease	Hydrocephalus, Abnormal epiphysis morphology, Ventriculomegaly	ORPHA:2770
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Hydrocephalus, Flar...	OMIM:187600
Ring Chromosome 10 Syndrome	Microphthalmia, Sandal gap, Tapered finger	ORPHA:1438
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab...	ORPHA:261529
Acro-Renal-Ocular Syndrome	Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Optic disc hypoplasia, Toe synda...	ORPHA:959
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus, Abnormality of the elbow, Brachydactyly	ORPHA:2701
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Single transverse palmar crease, Increased CSF lactate	OMIM:619053
Ciliary Dyskinesia, Primary, 34	Male infertility, Immotile sperm	OMIM:617091
Baraitser-Winter Syndrome 2	Microphthalmia, Ventriculomegaly	OMIM:614583
Intellectual Developmental Disorder, X-Linked 30	Prominent fingertip pads, Hydrocephalus	OMIM:300558
Seckel Syndrome 2	Clinodactyly of the 5th finger, Microphthalmia	OMIM:606744
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Achondroplasia	Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Hydrocep...	OMIM:100800
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Increased CSF protein concentration	ORPHA:209956
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Hydrocephalus, Anophthalmia, Holoprosencephaly	ORPHA:77298
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, Lateral ventricle dilatation, Broad hallux, Single transverse palmar crease	OMIM:614105
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation, Bilateral microphthalmos	ORPHA:77299
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:620197
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Communicating hydrocephalus	ORPHA:1861
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Infantile Sialic Acid Storage Disease	Hydrocephalus, Metaphyseal irregularity	OMIM:269920
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Broad proximal phalanges of the hand, Optic nerve hypoplasia, Bilateral microphthalmos, Short foo...	OMIM:607597
Temple Syndrome	Short foot, Clinodactyly, Small hand, Hydrocephalus	OMIM:616222
Trisomy 1Q	Toe syndactyly, Anophthalmia, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly,...	ORPHA:261344
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Hydrocephalus,...	ORPHA:1865
Oculocerebrocutaneous Syndrome	Finger syndactyly, Ventriculomegaly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal...	ORPHA:1647
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Broad thumb, Brachydactyly	OMIM:614526
Monosomy 18P	Microphthalmia, Holoprosencephaly, Brachydactyly	ORPHA:1598
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Optic nerve hypoplasia, Hydrocephalus, Microph...	ORPHA:370959
Triploidy	Finger syndactyly, Hydrocephalus, Meningocele, Holoprosencephaly, Aplasia/Hypoplasia affecting th...	ORPHA:3376
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Hydrocephalus, Short foot, Hand polydactyly, Talipes equino...	ORPHA:250989
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Colpocephaly, Microp...	OMIM:609053
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Camptodactyly of finger, Rocker bottom foot	OMIM:610756
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus, Sandal gap, Brachydactyly	ORPHA:2180
Central Precocious Puberty In Male	Hydrocephalus	ORPHA:649929
Gorlin Syndrome	Palmar pits, Hydrocephalus, Arachnodactyly, Brachydactyly	ORPHA:377
Joubert Syndrome 14	Encephalocele, Postaxial polydactyly, Hydrocephalus, Meningocele, Microphthalmia, Dandy-Walker ma...	OMIM:614424
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormal metaphysis morphology	ORPHA:290
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Ulnar bowing, Shortening of all distal phalanges of the fingers, Epiphyse...	OMIM:619135
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Hydrocephalus, Abnormally large globe	OMIM:615249
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Trisomy 13	Anophthalmia, Postaxial hand polydactyly, Aplasia/Hypoplasia of the iris, Abnormal pelvic girdle ...	ORPHA:3378
Tetrasomy 15Q26	Hydrocephalus, Arachnodactyly, Dandy-Walker malformation, Camptodactyly	OMIM:614846
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Overlapping toe, Single transverse palmar crease, Tapered finger, Short thumb, Ane...	OMIM:619148
Chondrodysplasia Punctata 2, X-Linked Dominant	Ventriculomegaly, Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle...	OMIM:302960
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Aplasia of the 1st metaca...	ORPHA:1352
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Sandal gap, Rocker bottom foot, Single transverse palmar crease, Camptodactyly of ...	OMIM:619951
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Coxa valga, Hydrocephalus, Hammertoe, Hip dysplasia, Colpocephaly, Acetabular dysplasia, Ventricu...	OMIM:619833
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hallux valgus, Rhizomelia, Sandal gap, Spatulate thumbs, Abnormally large globe, Broad distal pha...	OMIM:245600
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:163961
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polydactyly, Postaxial h...	OMIM:619879
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bilateral single transverse pa...	ORPHA:3103
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Hydrocephalus, Ventriculomegaly	OMIM:616538
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Overlapping fingers, Overlapping toe, Single transverse palmar crease, Deviati...	ORPHA:464738
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Nance-Horan Syndrome	Microphthalmia, Short metacarpal	ORPHA:627
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Ulnar deviation of the wrist, Hydrocephalus, 2-3 toe syndactyly, Irregular epiphyses,...	OMIM:618162
Otopalatodigital Syndrome Type 2	Encephalocele, Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger...	ORPHA:90652
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Arachnodactyly, Slender toe, Dandy-Walker malformation	OMIM:310400
Chromosome 1Q41-Q42 Deletion Syndrome	Sandal gap, 3-4 finger cutaneous syndactyly, Holoprosencephaly, Talipes equinovarus, Microphthalm...	OMIM:612530
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Sandal gap, Broad hallux, Microphthalmia, Clinodactyly, 3-4 toe syndactyly, Brachydactyly	OMIM:618727
Frontorhiny	Encephalocele, Camptodactyly of finger, Finger clinodactyly, Basal encephalocele, Cranium bifidum...	ORPHA:391474
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Bilateral single transverse palmar creases, Synostosis of carpal bones	ORPHA:3191
Fanconi Anemia, Complementation Group S	Microphthalmia, Clinodactyly, Proximal placement of thumb	OMIM:617883
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Overlapping fingers, Overlapping toe, Hip dysplasia, Prominent fingertip pads, Microphthalmia	OMIM:618494
Stevenson-Carey Syndrome	Microphthalmia, Hip dysplasia, Joint contracture of the hand, Camptodactyly	OMIM:611961
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Chromosome 17P13.1 Deletion Syndrome	Hallux valgus, Arachnodactyly, Broad hallux, Proximal placement of thumb, Tapered finger, Spina b...	OMIM:613776
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Small hand, Short foot, Short palm, Microphthalmia, Ventriculomegaly	OMIM:241410
Pseudotrisomy 13 Syndrome	Encephalocele, Postaxial hand polydactyly, Hydrocephalus, 2-3 toe syndactyly, Postaxial foot poly...	OMIM:264480
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly, Postaxial polydactyly	OMIM:219730
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hypoplasia of the iris, Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Kapur-Toriello Syndrome	Overlapping fingers, Single transverse palmar crease, Camptodactyly of finger, Short thumb, Micro...	OMIM:244300
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Houge-Janssens Syndrome 1	Hydrocephalus, Congenital hip dislocation, Ventriculomegaly	OMIM:616355
Acrofacial Dysostosis 1, Nager Type	Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Overlapping toe, Ab...	OMIM:154400
Baraitser-Winter Syndrome 1	Microphthalmia, Duplication of phalanx of hallux, Ventriculomegaly	OMIM:243310
Walker-Warburg Syndrome	Ventriculomegaly, Anophthalmia, Hydrocephalus, Metatarsus valgus, Microphthalmia, Dandy-Walker ma...	ORPHA:899
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia	OMIM:167730
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Tapered finger, Abnormally large globe, Short toe, Hydrocephalus, Delayed ossification of carpal ...	OMIM:239300
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Hydrocephalus, Femoral...	OMIM:207410
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Marden-Walker Syndrome	Arachnodactyly, Radioulnar synostosis, Talipes equinovarus, Camptodactyly, Microphthalmia, Joint ...	OMIM:248700
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia, Holoprosencephaly	OMIM:147250
Steinfeld Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Holoprosenceph...	OMIM:184705
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad distal phalanx of fi...	ORPHA:404440
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Intellectual Developmental Disorder, Autosomal Dominant 65	Single transverse palmar crease, Noncommunicating hydrocephalus, Short foot, Short palm, Clinodac...	OMIM:619320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Ventriculomegaly, Optic nerve hypoplasia, Hydrocephalus, Microphthalmia, Dandy-Wal...	OMIM:614643
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Ventriculomegaly, Colpocephaly, Brachydactyly	OMIM:620156
Joubert Syndrome 37	Microphthalmia, Postaxial polydactyly	OMIM:619185
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia, Ventriculomegaly	OMIM:120200
Chromosome 6Pter-P24 Deletion Syndrome	Broad toe, Rocker bottom foot, Hydrocephalus, Short 2nd toe, Hip dysplasia, Clinodactyly of the 5...	OMIM:612582
Ritscher-Schinzel Syndrome 1	Syndactyly, Hydrocephalus, Dandy-Walker malformation	OMIM:220210
Methylcobalamin Deficiency Type Cble	Syndactyly, Clinodactyly, Hydrocephalus, Ventriculomegaly	ORPHA:2169
Multiple Sulfatase Deficiency	Broad hallux, Hydrocephalus, Increased CSF protein concentration, Broad thumb, Ventriculomegaly	OMIM:272200
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Proximal placement of thumb, Absent radius, Hydrocephalus, Hand polydactyly	OMIM:314390
Oculodentodigital Dysplasia, Autosomal Recessive	Broad long bones, Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyly, Small hand, 3-...	OMIM:257850
Vacterl With Hydrocephalus	Anophthalmia, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypoplasia of the radius, Hip dis...	ORPHA:3412
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Cubitus valgus, Narrow palm, Slend...	ORPHA:193
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han...	OMIM:146510
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Hip dysplasia, Ventriculomegaly	ORPHA:494344
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Hydrocephalus, Neonatal epiphyseal stippling, Short metatarsal, ...	OMIM:101800
Fanconi Anemia, Complementation Group B	Optic disc hypoplasia, Absent thumb, Hydrocephalus, Bilateral radial aplasia, Ventriculomegaly	OMIM:300514
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Brachydactyly, Hydrocephalus, Dandy-Walker malformation, Drumstick terminal phalanges	OMIM:612938
Classic Galactosemia	Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism...	ORPHA:79239
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida	OMIM:207950
Apert Syndrome	Syndactyly, Finger syndactyly, Limited elbow movement, Preaxial hand polydactyly, Delayed epiphys...	OMIM:101200
Nance-Horan Syndrome	Microphthalmia, Short phalanx of finger, Broad finger	OMIM:302350
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Rhizomelia, Postaxial polydactyly, Short tibia, Squared iliac bones, Preaxial poly...	OMIM:616300
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Macular hypoplasia, Ventriculomegaly	OMIM:615219
3C Syndrome	Finger syndactyly, Ventriculomegaly, Hydrocephalus, Hand polydactyly, Abnormal hip bone morpholog...	ORPHA:7
Refsum Disease	Abnormal epiphysis morphology, Microphthalmia, Short metacarpal, Hammertoe	ORPHA:773
Mosaic Trisomy 9	Ventriculomegaly, Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Spi...	ORPHA:99776
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia, Hydrocephalus, Aplasia/Hypoplasia involving the pelvis	ORPHA:3301
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Diabetic Embryopathy	Hydrocephalus, Aplasia/Hypoplasia affecting the eye, Spinal dysraphism	ORPHA:1926
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Abnormality of the palmar creases	OMIM:618652
Focal Dermal Hypoplasia	Finger syndactyly, Toe syndactyly, Abnormal palmar dermatoglyphics, Camptodactyly of finger, Spin...	ORPHA:2092
Coach Syndrome 2	Hydrocephalus	OMIM:619111
Mend Syndrome	Overlapping fingers, Broad hallux, Overlapping toe, Long fingers, Hydrocephalus, 2-3 toe syndacty...	ORPHA:401973
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Congenital hip dislocation, Tapered finger, Delayed epiphyseal ossification, Hydrocephalus, Flare...	OMIM:616007
Fg Syndrome Type 1	Finger syndactyly, Limited elbow extension and supination, Broad toe, Single transverse palmar cr...	ORPHA:93932
Myoclonic-Astatic Epilepsy	Microphthalmia, Syndactyly	ORPHA:1942
Heart And Brain Malformation Syndrome	Hand clenching, Microphthalmia, Camptodactyly of finger, Dandy-Walker malformation	OMIM:616920
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Anophthalmia, Aplastic clavicle, Abnormality of the humerus, S...	ORPHA:2538
Meckel Syndrome, Type 6	Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot p...	OMIM:612284
Tetrasomy 5P	Overlapping toe, Short hallux, Long fingers, Hydrocephalus, Talipes equinovarus, Clinodactyly of ...	ORPHA:3309
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Short metacarpal, Abnormal metacarpal ...	ORPHA:95699
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Aniridia, Microphthalmia, Camptodactyly of toe	ORPHA:251038
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Warburg Micro Syndrome 3	Clinodactyly of the 5th finger, Microphthalmia, Ventriculomegaly	OMIM:614222
Congenital Disorder Of Glycosylation, Type Iil	Hip dysplasia, Hydrocephalus, Postaxial polydactyly, Ventriculomegaly	OMIM:614576
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Small hand, Camptodactyly, Dandy-Walker malformation, Bilateral single transverse ...	ORPHA:459061
Basal Cell Nevus Syndrome 1	Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Irregular ossification of hand ...	OMIM:109400
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Bowing of the legs, Short toe, Hydrocephalus, Anencephaly, Broad palm, Shor...	OMIM:269860
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Postaxial hand polydactyly, Hydrocephalus, Posta...	OMIM:608091
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Abnormality of the hand, Bilateral microphthalmos, Camptodactyly, Clinodactyly	ORPHA:369891
Ciliary Dyskinesia, Primary, 18	Male infertility, Immotile sperm	OMIM:614874
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Ventriculomegaly	OMIM:218350
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Metaphyseal widening, Hydrocephalus, Diaphyseal sclerosis, Erlenmeyer flask def...	OMIM:618476
Ciliary Dyskinesia, Primary, 9	Male infertility	OMIM:612444
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus, Optic nerve hypoplasia	OMIM:620157
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:609757
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Abnormality of the humerus, Hypoplasia o...	ORPHA:3186
Meckel Syndrome	Encephalocele, Bowing of the long bones, Anophthalmia, Preaxial hand polydactyly, Postaxial hand ...	ORPHA:564
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad hallux, Optic nerve hypoplasia, Abnormality of the hand, Overlapping toe, Spina bifida, Pre...	ORPHA:508498
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Warburg Micro Syndrome 2	Overlapping toe, Microphthalmia, Clinodactyly of the 4th toe, Clinodactyly of the 5th toe	OMIM:614225
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:225790
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Single transverse palmar crease, 2-3 toe syndactyly, Joint contracture of the 5th finger, Promine...	OMIM:620098
Chromosome 6Q24-Q25 Deletion Syndrome	Sandal gap, Hydrocephalus, Small hand, Lateral ventricle dilatation, Prominent fingertip pads	OMIM:612863
Pentalogy Of Cantrell	Encephalocele, Abnormal tibia morphology, Split hand, Hydrocephalus, Anencephaly, Aplasia/Hypopla...	ORPHA:1335
Congenital Fibrinogen Deficiency	Microphthalmia, Clubbing of fingers	ORPHA:335
1Q44 Microdeletion Syndrome	Hydrocephalus, Optic disc hypoplasia, Ventriculomegaly	ORPHA:238769
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Single transverse palmar crease, Ventriculomegaly, 2-3 toe syndactyly	OMIM:616449
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly	OMIM:615877
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Met...	OMIM:272950
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Anophthalmia, Optic nerve hypoplasia, Postaxial polydactyly, Pos...	OMIM:605627
Ciliary Dyskinesia, Primary, 14	Male infertility, Reduced sperm motility, Immotile sperm	OMIM:613807
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia, Hydrocephalus, Dandy-Walker malformation	OMIM:613001
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Microphthalmia, Lenz Type	Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Clinodactyly of the 5th...	ORPHA:568
Mend Syndrome	Broad hallux, Overlapping toe, Long fingers, Hydrocephalus, 2-3 toe syndactyly, Macular hypoplasi...	OMIM:300960
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus, Hand polydactyly, Foot polydactyly	ORPHA:2318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Buphthalmos, Microphthalmia, Ventriculomegaly	OMIM:613150
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility	ORPHA:2239
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Abnormal finger mor...	ORPHA:3472
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Clinodactyly of the 5th finger, Microphthalmia	OMIM:617306
Genitopalatocardiac Syndrome	Postaxial hand polydactyly, Hydrocephalus, Brachydactyly	ORPHA:2075
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Holoprosencephaly, Clinodactyly of the 5th fi...	ORPHA:1587
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus, Flared metaphysis, Femur fracture, Coxa vara	OMIM:259700
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus, Diaphyseal sclerosis, Genu valgum	OMIM:259710
Basal Cell Nevus Syndrome 2	Palmar pits, Hydrocephalus	OMIM:620343
Galloway-Mowat Syndrome 1	Ventriculomegaly, Hypoplasia of the iris, Talipes equinovarus, Camptodactyly, Hand clenching, Mic...	OMIM:251300
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Opitz-Kaveggia Syndrome	Syndactyly, Broad hallux, Single transverse palmar crease, Hydrocephalus, Split hand, Radial devi...	OMIM:305450
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Hydrocephalus, Polydactyly	ORPHA:93400
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Aplastic clavicle, Micromelia, Hydrocephalus, Preaxial polydactyly, Anence...	OMIM:616546
Mycophenolate Mofetil Embryopathy	Microphthalmia, Hydrocephalus, Foot polydactyly, Short palm	ORPHA:268249
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
15Q Overgrowth Syndrome	Contracture of the proximal interphalangeal joint of the 2nd finger, Arachnodactyly, Abnormal fin...	ORPHA:314585
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Hydrocephalus, Br...	ORPHA:87
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia...	ORPHA:221120
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Scapular winging, Lateral ventricular asymmetry, Arachno...	OMIM:616914
Stromme Syndrome	Microphthalmia, Hydrocephalus, Preaxial polydactyly, Optic nerve hypoplasia	OMIM:243605
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia	ORPHA:228390
Joubert Syndrome	Encephalocele, Hydrocephalus, Hand polydactyly, Foot polydactyly	ORPHA:475
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Trisomy 18	Camptodactyly of finger, Spina bifida, Postaxial hand polydactyly, Anencephaly, Deviation of fing...	ORPHA:3380
Campomelic Dysplasia	Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib...	OMIM:114290
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Iniencephaly	Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Myelomeningocele, Hydrocephalus, Ane...	ORPHA:63259
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hydrocephalus, Small hand, Short foot, Hip dysplasia, Dilated third ventricle, Ventriculomegaly	ORPHA:500055
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Short metatarsal, Tibial bowing, Femoral bowing, Short metacarpal, Ra...	OMIM:304120
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Palmoplantar hyperkeratosis, Tibial bowing, Short foot, Slender long bone, Osteoly...	OMIM:601812
Arachnoiditis	Hydrocephalus	ORPHA:137817
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Trisomy 17P	Clinodactyly of the 5th finger, Hydrocephalus, Tapered finger	ORPHA:261290
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Fanconi Anemia, Complementation Group D2	Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplication of thumb...	OMIM:227646
X-Linked Dominant Chondrodysplasia Punctata	Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiphyseal stippling, Talip...	ORPHA:35173
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Neu-Laxova Syndrome 1	Finger syndactyly, Ventriculomegaly, Toe syndactyly, Hydranencephaly, Rocker bottom foot, Microme...	OMIM:256520
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Microphthalmia, Absen...	ORPHA:284160
Trisomy 8P	Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease...	ORPHA:264450
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Clinod...	ORPHA:457284
Meckel Syndrome, Type 1	Dilated fourth ventricle, Syndactyly, Bowing of the long bones, Occipital encephalocele, Ventricu...	OMIM:249000
Emanuel Syndrome	Hydrocephalus, Congenital hip dislocation, Ventriculomegaly, Dandy-Walker malformation	OMIM:609029
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Sandal gap, Ventriculomegaly, Abnormal fibula morphology	ORPHA:1812
Ohdo Syndrome, X-Linked	Ulnar deviation of the hand, Overlapping toe, Short thumb, Long thumb, Hip dysplasia, Microphthal...	OMIM:300895
Cutis Laxa, Autosomal Recessive, Type Iib	Bowing of the long bones, Congenital hip dislocation, Hydrocephalus	OMIM:612940
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, Arachnodactyly, Abnormal hip bone morphology	ORPHA:2720
Galloway-Mowat Syndrome 3	Arachnodactyly, Hip dislocation, Camptodactyly, Microphthalmia, Ventriculomegaly	OMIM:617729
Multiple Sulfatase Deficiency	Broad hallux phalanx, Hydrocephalus, Broad thumb	ORPHA:585
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Cubitus valgus, Syndactyly, Hydrocephalus, Congenital hip dislocation	OMIM:104350
Skin Creases, Congenital Symmetric Circumferential, 1	Long fingers, Microphthalmia, Dandy-Walker malformation	OMIM:156610
Joubert Syndrome With Ocular Defect	Encephalocele, Hydrocephalus, Hand polydactyly, Foot polydactyly	ORPHA:220493
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Focal Dermal Hypoplasia	Anophthalmia, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyl...	OMIM:305600
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hallux valgus, Bowing of the long bones, Arachnodactyly, Phalangeal dislocation, Hypoplastic ilia...	ORPHA:536467
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia	ORPHA:1791
Peho Syndrome	Hydrocephalus, Ventriculomegaly, Tapered finger	ORPHA:2836
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Camptodactyly, Microphthalmia, Absent palmar crease	OMIM:614230
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Toe syndactyly, Sandal gap, Abnormality of thumb phalanx, Metata...	ORPHA:235
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ...	OMIM:613154
Jacobsen Syndrome	Hydrocephalus, Macular hypoplasia, Holoprosencephaly, Clinodactyly of the 5th finger, Microphthal...	OMIM:147791
Cole-Carpenter Syndrome	Communicating hydrocephalus, Crumpled long bones, Abnormal metaphysis morphology, Bowing of the l...	ORPHA:2050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia, Hydrocephalus, Holoprosencephaly	OMIM:253800
Mirage Syndrome	Rocker bottom foot, Radial club hand, Hydrocephalus, Talipes equinovarus, Overlapping fingers	OMIM:617053
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Rhizomelia, Hydrocephalus, Tibial bowing, Femoral bowing, Mesomelia, Palmoplantar cutis laxa	OMIM:616482
Monosomy 9Q22.3	Palmar pits, Hydrocephalus, Polydactyly, Microphthalmia, Ventriculomegaly	ORPHA:77301
Joubert Syndrome With Renal Defect	Encephalocele, Hydrocephalus, Hand polydactyly	ORPHA:220497
Fanconi Anemia, Complementation Group F	Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Microphthalmia	OMIM:603467
Mucopolysaccharidosis, Type Vii	Metatarsus adductus, Hydrocephalus, Genu valgum, Narrow greater sciatic notch, Talipes equinovaru...	OMIM:253220
Fanconi Anemia	Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Spina bif...	ORPHA:84
Shprintzen-Goldberg Craniosynostosis Syndrome	Arachnodactyly, Metatarsus adductus, Metaphyseal widening, Hydrocephalus, Genu valgum, Talipes eq...	OMIM:182212
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Optic nerve hypoplasia, Metatarsus adductus, Small hand, Genu valgum, Short foot, Lateral ventric...	ORPHA:300570
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Camptodactyly of finger, Tapered finger, Microphthalmia, Broad thumb, Bilateral single transverse...	ORPHA:1236
Emanuel Syndrome	Hydrocephalus, Congenital hip dislocation, Ventriculomegaly, Dandy-Walker malformation	ORPHA:96170
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Communicating hydrocephalus	ORPHA:1064
Rodrigues Blindness	Microphthalmia	OMIM:268320
Lhermitte-Duclos Disease	Hydrocephalus, Hand polydactyly	ORPHA:65285
47,Xyy Syndrome	Finger clinodactyly, Hydrocephalus	ORPHA:8
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Ventriculomegaly, Optic nerve hypoplasia, Meningoencephalocele, Hydrocep...	OMIM:236670
Primary Ciliary Dyskinesia	Hydrocephalus, Clubbing, Ventriculomegaly	ORPHA:244
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Postaxial hand polydactyly, Hydrocephalus, Holoprosencephaly, Microphthalmia	ORPHA:2166
Fanconi Anemia, Complementation Group E	Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx	OMIM:600901
Cole-Carpenter Syndrome 2	Hydrocephalus, Narrow iliac wing	OMIM:616294
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:304340
Distal Triplication 15Q	Hydrocephalus, Arachnodactyly, Dandy-Walker malformation, Camptodactyly	ORPHA:314588
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Metaphyseal widening, Split hand, Hydrocephalus, Genu valgum, Cervical myel...	OMIM:253200
Griscelli Syndrome	Encephalocele, Hydrocephalus	ORPHA:381
Limb Body Wall Complex	Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the...	ORPHA:2369
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl...	OMIM:210710
Fryns Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Dandy-Walker malformation, Ventriculomegaly, Shor...	ORPHA:2059
Hurler Syndrome	Hypoplasia of the femoral head, Coxa valga, Metaphyseal widening, Hydrocephalus, Flared iliac win...	OMIM:607014
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Overlapping toe	OMIM:618571
Ciliary Dyskinesia, Primary, 19	Male infertility	OMIM:614935
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln...	OMIM:263650
Fanconi Anemia, Complementation Group L	Absent thumb, Absent radius, Hydrocephalus, Bilateral talipes equinovarus, Microphthalmia	OMIM:614083
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate	ORPHA:90065
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Fanconi Anemia, Complementation Group A	Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx	OMIM:227650
Pontocerebellar Hypoplasia, Type 7	Hydrocephalus, Single transverse palmar crease, Ventriculomegaly	OMIM:614969
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocephalus, Talipes equinovarus, Ventriculomegaly, Tapered finger	OMIM:613603
Marshall-Smith Syndrome	Hallux valgus, Optic nerve hypoplasia, Bullet-shaped middle phalanges of the hand, Hydrocephalus,...	OMIM:602535
Acrofrontofacionasal Dysostosis 1	Short metacarpal, Microphthalmia, Acetabular dysplasia, Broad thumb, Short distal phalanx of finger	OMIM:201180
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst...	OMIM:619895
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Rocker bottom foot, Hydrocephalus, 2-3 toe syn...	ORPHA:163979
Oculodentodigital Dysplasia	Cubitus valgus, 4-5 finger syndactyly, Hip dislocation, Joint contracture of the 5th finger, Shor...	OMIM:164200
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Hydrocephalus	ORPHA:1834
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
3Q29 Microdeletion Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Tapered finger	ORPHA:65286
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Aplastic clavicle, Abnormal metacarpal morphology, Hydrocephalus, Abnormal fin...	ORPHA:2658
Cerebral Visual Impairment	Hydrocephalus, Optic nerve hypoplasia	ORPHA:447788
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Postaxial hand polydactyly, Hydrocephalus, Holoprosencephal...	OMIM:610829
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Ventriculomegaly	OMIM:610651
Osteopathia Striata With Cranial Sclerosis	Arachnodactyly, Hydrocephalus, Osteopathia striata, Spina bifida occulta, Fibular hypoplasia, Tal...	OMIM:300373
Lowry-Maclean Syndrome	Hydrocephalus, Single transverse palmar crease	ORPHA:2409
Townes-Brocks Syndrome 1	2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Preaxial hand po...	OMIM:107480
Holoprosencephaly	Encephalocele, Anophthalmia, Hydrocephalus, Spinal dysraphism, Hand polydactyly, Holoprosencephal...	ORPHA:2162
Myhre Syndrome	Overlapping toe, Short toe, 2-3 toe syndactyly, Cone-shaped epiphysis, Short long bone, Short fin...	OMIM:139210
Holoprosencephaly 7	Occipital meningocele, Alobar holoprosencephaly, Hydrocephalus, Bilateral microphthalmos, Lobar h...	OMIM:610828
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Incontinentia Pigmenti	Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Absent hand, Deviation of f...	ORPHA:464
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Desmosterolosis	Metatarsus adductus, Hydrocephalus, Ventriculomegaly, Micromelia	ORPHA:35107
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Normal pressure hydrocephalus, Congenital finger flexion contr...	OMIM:620351
Mucopolysaccharidosis Type 1	Hydrocephalus, Split hand, Abnormal epiphysis morphology, Abnormal hip bone morphology, Abnormal ...	ORPHA:579
Hydrolethalus Syndrome 1	Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of hallux, Anenceph...	OMIM:236680
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Short femur, Metaphyseal spurs, Femoral bowing, Short long bone, Fra...	OMIM:618188
Skin Creases, Congenital Symmetric Circumferential, 2	Tapered finger, Long fingers, 2-3 toe syndactyly, Short palm, Clinodactyly of the 5th finger, Mic...	OMIM:616734
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Bilateral talipes...	OMIM:600145
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Abnormal palmar dermatoglyphics	ORPHA:2728
Fraser Syndrome 3	Short toe, Hydrocephalus, Cutaneous syndactyly	OMIM:617667
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Short tibia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopla...	OMIM:617925
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Monosomy 18Q	Arachnodactyly, Abnormal palmar dermatoglyphics, Tapered finger, Hydrocephalus, Talipes equinovarus	ORPHA:1600
Beare-Stevenson Cutis Gyrata Syndrome	Overlapping toe, Hydrocephalus, Palmoplantar cutis laxa, Limited elbow extension, Ventriculomegaly	OMIM:123790
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Upper limb asymmetry	ORPHA:2505
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, Cranium bifidum...	ORPHA:306542
Desmosterolosis	Rhizomelia, Hydrocephalus, Bilateral talipes equinovarus, Joint contracture of the hand, Ventricu...	OMIM:602398
Fanconi Anemia, Complementation Group C	Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx	OMIM:227645
Hurler Syndrome	Camptodactyly of finger, Hydrocephalus, Abnormality of the elbow, Narrow pelvis bone, Abnormal di...	ORPHA:93473
Aymé-Gripp Syndrome	Rocker bottom foot, Tapered finger, Hydrocephalus, Radioulnar synostosis, Reduced arm span, Campt...	ORPHA:1272
Tenorio Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:616260
Chromosome 13Q14 Deletion Syndrome	Overlapping toe, Single transverse palmar crease, Hip dislocation, Holoprosencephaly, Clinodactyl...	OMIM:613884
Baller-Gerold Syndrome	Carpal bone aplasia, Hypoplasia of the ulna, Radial deviation of the hand, Short humerus, Optic n...	OMIM:218600
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, E...	ORPHA:2462
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Mucopolysaccharidosis, Type Ii	Hydrocephalus, Split hand	OMIM:309900
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Aplasia of the distal phalanx of the 5th finger, Aplasia of the distal phalanx of...	ORPHA:364577
Orofaciodigital Syndrome I	Syndactyly, Myelomeningocele, Hydrocephalus, Short 2nd toe, Polydactyly, Radial deviation of fing...	OMIM:311200
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus	OMIM:614886
Rabin-Pappas Syndrome	Hydrocephalus, Optic nerve hypoplasia	OMIM:620155
Momo Syndrome	Bilateral microphthalmos, Femoral bowing, Large hands, Short sternum, Congenital pseudoarthrosis ...	ORPHA:2563
Oculo-Palato-Cerebral Syndrome	Short foot, Microphthalmia, Small hand	ORPHA:2714
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Lateral ventricle dilatation	OMIM:300952
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Short thumb, Small hand, Short foot, Talipes equinovarus, Short palm,...	OMIM:268400
Microphthalmia, Syndromic 2	Anophthalmia, Broad hallux, Sandal gap, 2-3 toe cutaneous syndactyly, Phthisis bulbi, 2-3 toe syn...	OMIM:300166
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Slender long bone, Hydrocephalus	OMIM:618590
Aicardi Syndrome	Spina bifida, Proximal placement of thumb, Choroid plexus cyst, Lateral ventricle dilatation, Mic...	OMIM:304050
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Hydrocephalus, Deep palmar crease, Clinodactyly of the 5...	OMIM:115150
Linear Nevus Sebaceus Syndrome	Microphthalmia, Ventriculomegaly, Dandy-Walker malformation	ORPHA:2612
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Spina bifida occulta, Hydrocephalus	OMIM:613686
Mosaic Variegated Aneuploidy Syndrome	Ventriculomegaly, Abnormality of the upper limb, Holoprosencephaly, Clinodactyly of the 5th finge...	ORPHA:1052
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Hydrocephalus, Single transverse palmar crease, Colpocephaly	OMIM:309801
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Osteootohepatoenteric Syndrome	Avascular necrosis of the capital femoral epiphysis, Hip dysplasia, Hydrocephalus	OMIM:619377
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Palmoplantar cutis gyrata, Hydrocephalus, Palmoplantar keratoderma	ORPHA:1555
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Congenital hip dislocation, Aqueductal stenosis, Long fingers, Hydrocephalus, Bilateral talipes e...	OMIM:619512
Raine Syndrome	Bowing of the long bones, Micromelia, Hydrocephalus, Long hallux, Brachydactyly	OMIM:259775
Smith-Lemli-Opitz Syndrome	Overlapping toe, Micromelia, Proximal placement of thumb, Metatarsus adductus, Short thumb, 2-3 t...	OMIM:270400
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus	ORPHA:2969
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Broad hallux, Arachnodactyly, Short finger, Microphthalmia, Cubitus valgus	OMIM:601552
Cardiofaciocutaneous Syndrome	Abnormal morphology of ulna, Hydrocephalus, Genu valgum, Deep palmar crease, Palmoplantar keratod...	ORPHA:1340
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Anophthalmia, Toe syndactyly, Single transverse palmar crea...	OMIM:607932
Fryns Syndrome	Single transverse palmar crease, Proximal placement of thumb, Rocker bottom foot, Short thumb, Ca...	OMIM:229850
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Adducted thumb	OMIM:618874
Hallermann-Streiff Syndrome	Spina bifida, Abnormality of the hand, Metaphyseal widening, Slender long bone, Microphthalmia	OMIM:234100
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus	ORPHA:1454
Osteopetrosis, Autosomal Recessive 5	Hydrocephalus, Flared metaphysis, Hip subluxation, Ventriculomegaly	OMIM:259720
Adams-Oliver Syndrome 1	Encephalocele, Toe syndactyly, Talipes equinovarus, Microphthalmia, Ventriculomegaly, Brachydactyly	OMIM:100300
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus	OMIM:601499
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Complete Androgen Insensitivity Syndrome	Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility	ORPHA:99429
Frontonasal Dysplasia 2	Encephalocele, Microphthalmia	OMIM:613451
Mosaic Variegated Aneuploidy Syndrome 1	Hydrocephalus, Short sternum, Ventriculomegaly, Dandy-Walker malformation	OMIM:257300
Osteogenesis Imperfecta	Bowing of the long bones, Rhizomelia, Protrusio acetabuli, Micromelia, Fractures of the long bone...	ORPHA:666
Atelis Syndrome 2	Microphthalmia, Clinodactyly, Single transverse palmar crease	OMIM:620185
Phace Association	Microphthalmia, Optic nerve hypoplasia, Dandy-Walker malformation	OMIM:606519
Dural Sinus Malformation	Myelopathy, Hydrocephalus	ORPHA:97339
Wolf-Hirschhorn Syndrome	Rieger anomaly, Pseudoepiphyses of the metacarpals, Single transverse palmar crease, Short hallux...	OMIM:194190
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly	ORPHA:2356
Roberts-Sc Phocomelia Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:268300
Pallister-Hall Syndrome	Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowing, Postaxial hand ...	ORPHA:672
H Syndrome	Hallux valgus, Hydrocephalus, Camptodactyly	ORPHA:168569
Micro Syndrome	Microphthalmia	ORPHA:2510
Hajdu-Cheney Syndrome	Hydrocephalus, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Genu valgum,...	OMIM:102500
Coccidioidomycosis	CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Abnormal long bone morphology, Abno...	ORPHA:228123
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Dubowitz Syndrome	Syndactyly, Single transverse palmar crease, Hypoplasia of the iris, Clinodactyly of the 5th fing...	OMIM:223370
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Anophthalmia, Myelomeningocele, Aplasia/Hypoplasi...	OMIM:219000
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Microphthalmia, Ventriculomegaly	OMIM:616975
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Thickened cortex of long bones, Abnormality of the medullary cavity of the long b...	OMIM:127000
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Dextrocardia	Hydrocephalus, Congenital hip dislocation	ORPHA:1666
Aicardi Syndrome	Microphthalmia, Hip dysplasia, Small hand, Ventriculomegaly	ORPHA:50
Cockayne Syndrome B	Ivory epiphyses of the phalanges of the hand, Hypoplasia of the iris, Square pelvis bone, Normal ...	OMIM:133540
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Femur fracture, Lateral ventricle dilatation	OMIM:612301
Lateral Meningocele Syndrome	Hydrocephalus, Meningocele	OMIM:130720
Tetraamelia Syndrome 1	Microphthalmia, Hydrocephalus, Hypoplastic pelvis	OMIM:273395
Oculoauricular Syndrome	Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta	OMIM:612109
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Functioning Gonadotropic Adenoma	Hydrocephalus	ORPHA:91348
7Q11.23 Microduplication Syndrome	Single transverse palmar crease, Long fingers, Hydrocephalus, Cubitus valgus, Ventriculomegaly	ORPHA:96121
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Camptodactyly of finger, Optic nerve hypoplasia, 4-5 finger syndactyly, Bi...	ORPHA:468631
Neurooculorenal Syndrome	Short hallux, Aqueductal stenosis, Hydrocephalus, Talipes equinovarus, Short 1st metacarpal, Vent...	OMIM:620305
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the 5th finger, Sh...	OMIM:608670
Whipple Disease	Hydrocephalus	ORPHA:3452
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Hypoglycorrhachia, Brachydactyly	ORPHA:168577
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Ventriculomegaly	ORPHA:395
Hajdu-Cheney Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Brachydactyly, Short toe, Hydroce...	ORPHA:955
Fetal Akinesia Deformation Sequence 1	Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Hydroc...	OMIM:208150
Witteveen-Kolk Syndrome	Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placement of thumb, Short thumb, Small ...	OMIM:613406
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Charge Syndrome	Anophthalmia, Aqueductal stenosis, Abnormal tibia morphology, Bifid femur, Holoprosencephaly, Cli...	ORPHA:138
Kabuki Syndrome	Hydrocephalus, Small hand, Hip dislocation, Short middle phalanx of finger, Short 5th finger, Ven...	ORPHA:2322
Neurofibromatosis, Type I	Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum	OMIM:162200
Histiocytoid Cardiomyopathy	Microphthalmia, Hydrocephalus, Congenital aphakia	ORPHA:137675
Hallermann-Streiff Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Small hand, Short foot	ORPHA:2108
Partial Androgen Insensitivity Syndrome	Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction	ORPHA:90797
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Single transverse palmar crease, Broa...	OMIM:612474
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules	ORPHA:25
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Wrist swelling, Hip dislocation, Genu valgum, Finger swelling, Microphth...	OMIM:309000
22Q11.2 Deletion Syndrome	Arachnodactyly, Spina bifida, Hydrocephalus, Meningocele, Occipital myelomeningocele, Hand polyda...	ORPHA:567
Marden-Walker Syndrome	Arachnodactyly, Camptodactyly of finger, Metatarsus adductus, Hydrocephalus, Radioulnar synostosis	ORPHA:2461
Fraser Syndrome 2	Microphthalmia, Cutaneous syndactyly	OMIM:617666
Monosomy 9P	Proximal placement of thumb, Abnormality of the tarsal bones, Postaxial hand polydactyly, Microph...	ORPHA:261112
Mucopolysaccharidosis Type 3	Avascular necrosis of the capital femoral epiphysis, Hydrocephalus, Genu valgum, Hip dysplasia, V...	ORPHA:581
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Hip dysplasia, Small hand, Tapered finger	OMIM:620005
Cat Eye Syndrome	Absent radius, Microphthalmia	OMIM:115470
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ...	ORPHA:90793
Microphthalmia, Syndromic 3	Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia	OMIM:206900
Distal 22Q11.2 Microduplication Syndrome	Toe syndactyly, Camptodactyly of finger, Tapered finger, Hydrocephalus, Camptodactyly of toe	ORPHA:261337
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Buphthalmos, Hypoplasia of the retina, Microphthalmia, Ventriculomegaly	OMIM:253280
Degcags Syndrome	Syndactyly, Ventriculomegaly, Toe syndactyly, Short thumb, Preaxial hand polydactyly, Genu valgum...	OMIM:619488
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Hydrocephalus...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Hydrocephalus...	ORPHA:363958
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Large hands, Arachnodactyly, Ventriculomegaly	OMIM:617011
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Hydrocephalus, Absent dis...	OMIM:610168
8Q24.3 Microdeletion Syndrome	Long toe, Congenital hip dislocation, Short femur, Single transverse palmar crease, Optic nerve h...	ORPHA:508488
Townes-Brocks Syndrome	Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha...	ORPHA:857
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hydrocephalus, Ventriculomegaly	ORPHA:228308
Alexander Disease	Aqueductal stenosis, Hydrocephalus	ORPHA:58
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal...	OMIM:615287
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Peters-Plus Syndrome	Syndactyly, Short metacarpal, Rhizomelia, Single transverse palmar crease, Limited elbow movement...	OMIM:261540
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Metaphyseal widening, Phthisis bulbi, Tibial bowing	OMIM:259770
Trichothiodystrophy	Bilateral microphthalmos, Clubbing, Ventriculomegaly	ORPHA:33364
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Oculocerebrorenal Syndrome Of Lowe	Hip dislocation, Genu valgum, Buphthalmos, Abnormal epiphysis morphology, Microphthalmia, Abnorma...	ORPHA:534
Ciliary Dyskinesia, Primary, 1	Male infertility	OMIM:244400
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro...	OMIM:609049
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus	ORPHA:157
Neuroocular Syndrome	Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Tapered finge...	OMIM:619539
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Septo-optic dysplasia, Short fifth metatarsal, Short fourth metatars...	OMIM:619841
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Deep palmar crease, Hydrocephalus	ORPHA:505248
Loeys-Dietz Syndrome 1	Arachnodactyly, Hydrocephalus, Postaxial hand polydactyly, Talipes equinovarus, Camptodactyly	OMIM:609192
Fontaine Progeroid Syndrome	Syndactyly, Hydrocephalus, Deep palmar crease, Absent distal phalanges, Microphthalmia, Short dis...	OMIM:612289
Simpson-Golabi-Behmel Syndrome, Type 1	Short palm, Broad toe, Postaxial polydactyly, Postaxial hand polydactyly, Hydrocephalus, 2-3 fing...	OMIM:312870
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Genu valgum, Cortical thickening of long bone diaphyses, Bilateral t...	ORPHA:309282
Medulloblastoma	Hydrocephalus	ORPHA:616
Charge Syndrome	Hypoplasia of the ulna, Anophthalmia, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Ab...	OMIM:214800
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Hypoplastic ilia, Long fingers, Hydrocephalus, Slender long...	OMIM:264090
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus	ORPHA:220295
Proboscis Lateralis	Anophthalmia, Optic nerve hypoplasia, Holoprosencephaly, Microphthalmia, Ventriculomegaly	ORPHA:141099
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus	OMIM:277400
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Short long bone...	OMIM:306955
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Single transverse palmar crease, Hydrocephalus, Genu valgum, Decreased CSF 5-methyltetrahydrofola...	OMIM:619475
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Autosomal Dominant Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Bilateral microphthalmos, Stenosis of the medullary c...	ORPHA:93325
Autosomal Recessive Malignant Osteopetrosis	Hydrocephalus, Abnormal metaphysis morphology, Abnormal epiphysis morphology, Bowing of the long ...	ORPHA:667
Fraser Syndrome	Encephalocele, Finger syndactyly, Toe syndactyly, Anophthalmia, Myelomeningocele, Microphthalmia,...	ORPHA:2052
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Holoprosencephaly 1	Microphthalmia, Ethmocephaly, Alobar holoprosencephaly	OMIM:236100
Sturge-Weber Syndrome	Hydrocephalus	ORPHA:3205
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia, Dandy-Walker malformation	ORPHA:42775
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Clinodactyly, Broad hallux, Single transverse palmar crease	OMIM:620186
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus, Optic nerve hypoplasia, Genu valgum	OMIM:619321
Isolated Arrhinia	Microphthalmia	ORPHA:1134
46,Xy Partial Gonadal Dysgenesis	Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C...	ORPHA:251510
Cockayne Syndrome A	Hip contracture, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Normal pressur...	OMIM:216400
Peters Plus Syndrome	Toe syndactyly, Rhizomelia, Micromelia, Short toe, Hydrocephalus, Short foot, Clinodactyly of the...	ORPHA:709
Treacher-Collins Syndrome	Encephalocele, Microphthalmia	ORPHA:861
Isotretinoin-Like Syndrome	Hydrocephalus	ORPHA:2306
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Hydrocephalus, Anophthalmia	ORPHA:2556
Renpenning Syndrome 1	Camptodactyly, Clinodactyly of the 5th finger, Microphthalmia, Synostosis of the proximal phalanx...	OMIM:309500
Thakker-Donnai Syndrome	Communicating hydrocephalus	ORPHA:1780
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Metatarsus adductus, Hydrocephalus, Short foot, Hip dysplasia, Lateral v...	OMIM:607872
Costello Syndrome	Hyperextensibility of the finger joints, Limited elbow movement, Hydrocephalus, Deep palmar creas...	OMIM:218040
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrocephalus	ORPHA:79282
Tetrasomy 9P	Hypoplastic scapulae, Hydrocephalus, Small hand, Small toe, Talipes equinovarus, Clinodactyly of ...	ORPHA:3310
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus	OMIM:616084
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos	OMIM:601186
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Optic disc hypoplasia, Camptodactyly of finger, Hypoplastic...	ORPHA:3455
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Craniopharyngioma	Hydrocephalus	ORPHA:54595
Holoprosencephaly 2	Microphthalmia, Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly	OMIM:157170
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Neurofibromatosis Type 1	Hydrocephalus, Genu valgum, Slender long bone, Abnormal hip bone morphology, Genu varum	ORPHA:636
Split Cord Malformation	Cervical spina bifida, Hydrocephalus, Talipes cavus equinovarus, Lipomyelomeningocele, Myelomenin...	ORPHA:573278
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Arachnodactyly, Ventriculomegaly	ORPHA:457359
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Hydrocephalus, Ventriculomegaly	ORPHA:2072
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Oeis Complex	Hydrocephalus, Myelomeningocele, Congenital hip dislocation, Talipes equinovarus	OMIM:258040
Cryptococcosis	Hydrocephalus	ORPHA:1546
Cockayne Syndrome Type 3	Microphthalmia	ORPHA:90324
Cockayne Syndrome	Microphthalmia, Abnormal epiphysis morphology	ORPHA:191
Coffin-Siris Syndrome 12	Short thumb, Slender finger, Noncommunicating hydrocephalus, Cutaneous syndactyly, Radioulnar syn...	OMIM:619325
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus	OMIM:261740
Kabuki Syndrome 1	Congenital hip dislocation, Hydrocephalus, Hip dysplasia, Lateral ventricle dilatation, Short 5th...	OMIM:147920
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus	ORPHA:637
Microphthalmia, Syndromic 1	Syndactyly, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Short clavicle...	OMIM:309800
Branchiooculofacial Syndrome	Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Short thumb, Preaxial...	OMIM:113620
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, C...	ORPHA:261537
Alobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Hip dislocation	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Neural tube defect, Hydrocephalus, Hip dislocation	ORPHA:93926
Lobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Hip dislocation	ORPHA:93924
Semilobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Hip dislocation	ORPHA:220386
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Hydrocephalus, Narrow iliac wing	ORPHA:3042
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Large hands, Abnormal tibia morphology, Hydrocephalus, Genu valgum	ORPHA:363700
Meningioma	Hydrocephalus	ORPHA:2495
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Gaucher Disease	Hydrocephalus, Ventriculomegaly	ORPHA:355
Lymphangioleiomyomatosis	Hydrocephalus	ORPHA:538
Biliary, Renal, Neurologic, And Skeletal Syndrome	Syndactyly, Postaxial polydactyly, Aqueductal stenosis, Hydrocephalus, Broad first metatarsal, La...	OMIM:619534
Mowat-Wilson Syndrome	Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Tapered finger, C...	ORPHA:2152
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia, Hydrocephalus	OMIM:175780
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, C...	ORPHA:261552
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Hip dysplasia	ORPHA:580
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Partial duplication of thumb phalanx, Hydrocephalus, Genu ...	OMIM:164210
Tuberous Sclerosis Complex	Noncommunicating hydrocephalus, Subependymal nodules	ORPHA:805
Mowat-Wilson Syndrome	Microphthalmia, Ventriculomegaly	OMIM:235730
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:649
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500

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 Cnpy4

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 Cnpy4.

No publications found that use IMPC mice or data for Cnpy4.

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

MGI Allele	Allele Type	Produced
Cnpy4^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Cnpy4^{tm431363(L1L2_GT0_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Cnpy4^{tm214261(L1L2_Bact_P)}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors
Cnpy4^{em1(IMPC)Ccpcz}	Inter-exon deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Cnpy4 MGI:1913705

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Human diseases caused by Cnpy4 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data