Gene Summary

Name:
canopy FGF signaling regulator 4
Synonyms:
2610019P18Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal eye morphology Cnpy4em1(IMPC)Ccpcz HOM Early adult 0.00
hydrocephaly Cnpy4em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal brain morphology Cnpy4em1(IMPC)Ccpcz HOM Early adult 0.00
microphthalmia Cnpy4em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal digit morphology Cnpy4em1(IMPC)Ccpcz HOM Early adult 2.70×10-05

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Select physiological systems to view:
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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 Skull Lateral Orientation

16 Images

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 17
Male infertility OMIM:617214
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
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 32
Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619528
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 63
Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:617960
Gombo Syndrome
Brachydactyly, Radial deviation of finger, Clinodactyly, Microphthalmia OMIM:233270
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Craniofacial Conodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hydrocephalus ORPHA:85168
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Syndactyly, Hydrocephalus, Postaxial hand polydactyly OMIM:615938
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis ORPHA:1646
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
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
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo... OMIM:301101
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus, Postaxial hand polydactyly OMIM:615937
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 38
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... OMIM:618433
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Microphthalmia/Coloboma 5
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... OMIM:620356
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Ventriculomegaly, Rocker bottom foot, Microphthalmia OMIM:616570
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus OMIM:166990
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus, Microphthalmia OMIM:614830
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Biemond Syndrome Type 2
Preaxial polydactyly, Hydrocephalus, Microphthalmia ORPHA:141333
Biemond Syndrome Ii
Hydrocephalus, Preaxial hand polydactyly OMIM:210350
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Postaxial foot polydactyly, Preaxial hand polydac... ORPHA:380
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ... OMIM:615297
Mmep Syndrome
Triphalangeal thumb, Split foot, Microphthalmia ORPHA:3434
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Syndactyly, Clinodactyly, Microphthalmia OMIM:610023
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Microphthalmia/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
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility OMIM:277180
Kleeblattschaedel
Elbow ankylosis, Hydrocephalus OMIM:148800
Hydrolethalus Syndrome 2
Ventriculomegaly, Postaxial foot polydactyly, Preaxial foot polydactyly, Hydrocephalus, Postaxial... OMIM:614120
Masa Syndrome
Talipes equinovarus, Ventriculomegaly, Adducted thumb, Hydrocephalus OMIM:303350
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
2Q24 Microdeletion Syndrome
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing... ORPHA:1617
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Hydrocephalus, Microphthalmia ORPHA:324416
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening of limbs, ... OMIM:300863
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hypoplastic ilia, Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossificati... OMIM:613330
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Microphthalmia ORPHA:1528
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Curry-Jones Syndrome
Ventriculomegaly, Toe syndactyly, Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Abno... ORPHA:1553
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Broad thumb, Postaxial foot polydactyly, Joint contracture of the hand, Y-shape... OMIM:175700
Nanophthalmos
Microphthalmia ORPHA:35612
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
1Q21.1 Microduplication Syndrome
Talipes equinovarus, Hip dislocation, Hydrocephalus, Hip dysplasia ORPHA:250994
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Oligozoospermia, Male infertility ORPHA:48
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Polydactyly, Hydrocephalus, Microphthalmia, Syndactyly OMIM:602501
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Oligozoospermia, Male infertility OMIM:620103
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Congenital Varicella Syndrome
Micromelia, Microphthalmia ORPHA:291
Nanophthalmos 4
Microphthalmia OMIM:615972
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida, Postaxial hand polydactyly ORPHA:945
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Adducted thumb, Hydrocephalus, Thumb contracture OMIM:307000
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Encephalocele, Split hand, Microphthalmia, Lobar holoprosencephaly ORPHA:2117
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Microphthalmia, Po... OMIM:611561
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypoplastic iliac w... ORPHA:163966
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Facial Clefting, Oblique, 1
Deep palmar crease, Microphthalmia OMIM:600251
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Meckel Syndrome, Type 2
Encephalocele, Polydactyly, Bowing of the long bones, Microphthalmia, Postaxial hand polydactyly,... OMIM:603194
Developmental And Epileptic Encephalopathy 36
Small hand, Hydrocephalus OMIM:300884
Idiopathic Uveal Effusion Syndrome
Increased CSF protein concentration, Microphthalmia ORPHA:209956
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia OMIM:614082
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Frontonasal Dysplasia 1
Cranium bifidum occultum, Joint contracture of the hand, Anterior basal encephalocele, Clinodacty... OMIM:136760
Pierpont Syndrome
Ventriculomegaly, Short toe, Prominent fingertip pads, Short finger, Excessive wrinkling of palma... ORPHA:487825
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Hydrocephalus, Microphthalmia, Postaxial hand polydactyl... OMIM:611134
Congenital Hydrocephalus
Macular hypoplasia, Colpocephaly, Hydrocephalus, Ventriculomegaly ORPHA:2185
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Microphthalmia OMIM:615771
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic acetabulae, Clino... OMIM:169550
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Absent thumb, Lateral ventricle dilatation, Bowed forearm bones, Hydrocephalus,... OMIM:602200
Fanconi Anemia, Complementation Group J
Short thumb, Microphthalmia OMIM:609054
Temtamy Syndrome
Short toe, Brachydactyly, Microphthalmia, Clinodactyly of the 5th finger, Genu varum ORPHA:1777
Spermatogenic Failure 14
Azoospermia, Male infertility, Round spermatid arrest OMIM:615842
Meckel Syndrome, Type 8
Occipital encephalocele, Encephalocele, Anophthalmia, Polydactyly, Talipes equinovarus, Microphth... OMIM:613885
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Hydrocephalus, Postaxial hand p... OMIM:607361
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus, Adducted thumb ORPHA:2182
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Elbow flexion contracture, Hydrocephalus OMIM:619470
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... OMIM:157900
Vitamin K Antagonist Embryofetopathy
Short distal phalanx of finger, Myelomeningocele, Epiphyseal stippling, Brachydactyly, Hydrocepha... ORPHA:1914
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hydrocephalus, Microphthalmia OMIM:601794
Spermatogenic Failure 28
Non-obstructive azoospermia, Male infertility OMIM:618086
Edinburgh Malformation Syndrome
Slender finger, Ulnar deviation of finger, Hydrocephalus, Long fingers, Aplasia/Hypoplasia affect... ORPHA:1895
Joubert Syndrome 22
2-3 toe syndactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Microphthalmia OMIM:615665
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Bilateral microphthalmos, Camptodactyl... ORPHA:2839
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Anophthalmia, Orbital encephalocele, Microphthalmia, Dandy-Walker mal... OMIM:164180
6P22 Microdeletion Syndrome
Finger syndactyly, Hydrocephalus, Clinodactyly ORPHA:251046
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia OMIM:218670
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Arachnodactyly, Adducted thumb, Hydrocephalus, Shoulder dislocation ORPHA:2181
Metatropic Dysplasia
Coarse metaphyseal trabecularization, Micromelia, Camptodactyly of finger, Halberd-shaped pelvis,... ORPHA:2635
Pierpont Syndrome
Short toe, Prominent fingertip pads, Short finger, Deep palmar crease, Broad palm, Microphthalmia... OMIM:602342
Diencephalic Syndrome
Hydrocephalus, Large hands ORPHA:1672
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Lissencephaly 8
Talipes equinovarus, Ventriculomegaly, Occipital encephalocele, Microphthalmia OMIM:617255
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Microphthalmia ORPHA:3469
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Elbow dislocation, Synostosis of carpal bones, Short ... ORPHA:1106
Radial Aplasia, X-Linked
Hydrocephalus, Absent radius OMIM:312190
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Bowing of the long bon... ORPHA:93267
Gracile Bone Dysplasia
Slender long bone, Flared metaphysis, Aniridia, Brachydactyly, Hydrocephalus, Microphthalmia OMIM:602361
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Radial bowing, Micromelia, Preaxial polydactyly, Ulnar bowing, Single transvers... OMIM:617866
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Congenital Toxoplasmosis
Ventriculomegaly, Hydrocephalus, Microphthalmia ORPHA:858
Cousin Syndrome
Joint contracture of the hand, Hypoplastic scapulae, Hypoplastic iliac wing, Fibular aplasia, Dis... OMIM:260660
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Flexion contracture of toe, Ventriculomegaly, Finger joint contracture, Microphthalmia ORPHA:48431
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Hydrocephalus, Dislocated radial head OMIM:304100
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation, Sandal gap, Joint contracture of the 5th finger, Joint contracture ... OMIM:618914
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
L1 Syndrome
Aqueductal stenosis, Adducted thumb, Hydrocephalus ORPHA:275543
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Talipes equinovarus, Microphthalmia OMIM:616171
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short 4th metacarpal, Cubitus valgus, Hydrocephalus ORPHA:2183
Spermatogenic Failure 13
Azoospermia, Male infertility OMIM:615841
Warburg Micro Syndrome 1
Enlarged sylvian cistern, Overlapping toe, Microphthalmia OMIM:600118
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Hydrocephalus, Microphthalmia OMIM:615181
Fanconi Anemia, Complementation Group R
Absent thumb, Hydrocephalus, Radial dysplasia, Microphthalmia OMIM:617244
Achondroplasia
Rhizomelia, Hip joint hypermobility, Limited elbow extension, Trident hand, Narrow greater sciati... ORPHA:15
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Microphthalmia OMIM:613155
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Postaxial hand polydactyly ORPHA:83473
Adams-Oliver Syndrome 2
Lateral ventricle dilatation, Absent distal phalanges, Single transverse palmar crease, Hydroceph... OMIM:614219
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Fried Syndrome
Hydrocephalus ORPHA:85335
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ulnar deviation of the wrist, Ventriculomegaly, Hydrocephalus, Clinodactyly OMIM:618577
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Pallister-Hall-Like Syndrome
Postaxial foot polydactyly, Toe syndactyly, Occipital encephalocele, Micromelia, Hydrocephalus, P... OMIM:241800
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Single transverse palmar... ORPHA:2437
Cofs Syndrome
Camptodactyly of finger, Microphthalmia ORPHA:1466
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Aase-Smith Syndrome I
Slender finger, Talipes equinovarus, Hydrocephalus, Dandy-Walker malformation OMIM:147800
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Abnormal epiphysis morphology, Metaphyseal spurs, ... ORPHA:85167
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Joint contracture of the hand, Micromelia, Broad long bones, Encephalocele, Bowing of the long bo... OMIM:224400
17Q12 Microduplication Syndrome
Toe syndactyly, Finger syndactyly, Microphthalmia ORPHA:261272
Microphthalmia, Syndromic 8
Split foot, Microphthalmia OMIM:601349
Vacterl Association With Hydrocephalus
Radial club hand, Aqueductal stenosis, Absent thumb, Hydrocephalus OMIM:276950
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Symphalangism affecting the phalanges of the hand, Camptodactyly of finger, Microphthalmia ORPHA:2547
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus OMIM:619301
Pfeiffer Syndrome
Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneous syndactyly, Fin... OMIM:101600
Pfeiffer Syndrome Type 2
Deviation of the thumb, Small hand, Toe syndactyly, Broad thumb, Finger syndactyly, Hallux varus,... ORPHA:93259
Developmental Delay With Variable Neurologic And Brain Abnormalities
Camptodactyly, Cubitus valgus, Down-sloping shoulders, Microphthalmia OMIM:619694
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Cat-Eye Syndrome
Hip dysplasia, Microphthalmia ORPHA:195
Braddock-Carey Syndrome 2
Clinodactyly, Microphthalmia OMIM:619981
Thanatophoric Dysplasia
Abnormal ilium morphology, Ventriculomegaly, Micromelia, Abnormal sacroiliac joint morphology, Br... ORPHA:2655
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Preaxial foot polydacty... OMIM:252100
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Genu valgum, Hydrocephalus OMIM:248000
Temtamy Syndrome
Ventriculomegaly, Talipes equinovarus, Brachydactyly, Microphthalmia, Short 2nd toe, Hip dislocation OMIM:218340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Microphthalmia OMIM:613153
Hydrolethalus
Micromelia, Anophthalmia, Hydrocephalus, Postaxial hand polydactyly, Microphthalmia, Anencephaly ORPHA:2189
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Clinodactyly of the 5th finger, Hydrocephalus ORPHA:1516
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Genu valgum, Brachydactyly, Hydrocephalus, Short long bone, Postaxial hand poly... OMIM:615630
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hand muscle weakness, Triceps weakness, Abnormality of the hand, Hydrocephalus, Paresis of extens... ORPHA:99947
Thanatophoric Dysplasia Type 2
Ventriculomegaly, Micromelia, Encephalocele, Hydrocephalus, Brachydactyly, Holoprosencephaly, Abn... ORPHA:93274
Familial Peripheral Male-Limited Precocious Puberty
Oligozoospermia, Male infertility ORPHA:3000
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Hydrocephalus ORPHA:251915
Curry-Jones Syndrome
Ventriculomegaly, Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot polyd... OMIM:601707
Bartsocas-Papas Syndrome 2
Small hand, 2-5 finger cutaneous syndactyly, Absent distal phalanges, Microphthalmia OMIM:619339
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Ventriculomegaly, Micromelia, Femoral bowing, Bowing of the long bones, Abnorma... ORPHA:1860
Sandestig-Stefanova Syndrome
Ventriculomegaly, Clinodactyly, Bilateral single transverse palmar creases, Microphthalmia, Campt... OMIM:618804
Houge-Janssens Syndrome 2
Ventriculomegaly, Broad hallux, Deviation of the 5th finger, Postaxial polydactyly, Hydrocephalus... OMIM:616362
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Absent radius, Oligodactyly, Humeroradial synostosis, Tali... OMIM:251230
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Cerebrooculofacioskeletal Syndrome 1
Ventriculomegaly, Joint contracture of the hand, Elbow flexion contracture, Second metatarsal pos... OMIM:214150
Temple Syndrome
Clinodactyly of the 5th finger, Small hand, Short foot, Hydrocephalus ORPHA:254516
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Bilateral talipes equinovarus, Hydrocephalus OMIM:618174
Alexander Disease
Increased CSF protein concentration, Hydrocephalus OMIM:203450
Muenke Syndrome
Cone-shaped epiphysis, Carpal synostosis, Hydrocephalus, Tarsal synostosis, Short foot, Short palm ORPHA:53271
Intellectual Developmental Disorder, Autosomal Dominant 39
Bilateral talipes equinovarus, Hydrocephalus OMIM:616521
Bresek Syndrome
Postaxial hand polydactyly, Optic nerve hypoplasia, Hydrocephalus, Microphthalmia ORPHA:85284
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Lateral ventricle dilatation, Broad 2nd toe, Finger clinodactyly,... ORPHA:1692
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Rieger anomaly, Hydrocephalus, Hip dislocation, Coxa valga OMIM:109120
Osteoporosis-Pseudoglioma Syndrome
Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metaphyseal widening,... ORPHA:2788
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Finger syndactyly, Micromelia, Encephalocele, Aplasia/Hypoplasia of the thumb,... ORPHA:1908
Martsolf Syndrome 1
Ventriculomegaly, Broad femoral neck, Short toe, Slender ulna, Avascular necrosis of the capital ... OMIM:212720
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation, Postaxial hand polydactyly OMIM:220220
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventriculomegaly, Microphthalmia OMIM:613730
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Hemiatrophy of upper limb, Abnormal femoral neck/head morphology, Flattened epiph... ORPHA:163649
Cerebrooculofacioskeletal Syndrome 4
Slender long bone, Bilateral microphthalmos, Camptodactyly of finger, Flared metaphysis, Elbow fl... OMIM:610758
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Talipes equinovar... OMIM:609945
Adams-Oliver Syndrome
Short distal phalanx of finger, Finger syndactyly, Absent hand, Encephalocele, Abnormal metacarpa... ORPHA:974
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
2Q31.1 Microdeletion Syndrome
Ventriculomegaly, Toe syndactyly, Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnorma... ORPHA:251014
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly, Ventriculomegaly, Abnormally large globe, Hydrocephalus OMIM:603387
Rhombencephalosynapsis
Ventriculomegaly, Finger syndactyly, Polydactyly, Hydrocephalus, Short phalanx of finger, Septo-o... ORPHA:59315
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Toe syndactyly, Bowing of the long bones, Radioulnar synostosis, Hydrocephalus, Short palm ORPHA:171839
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Ventriculomegaly, Hydrocephalus OMIM:610333
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility OMIM:617091
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Hydrocephalus, Camptodactyly of finger ORPHA:272
Developmental And Epileptic Encephalopathy 1
Ventriculomegaly, Microphthalmia OMIM:308350
Oculofaciocardiodental Syndrome
Short thumb, Genu valgum, Flexion contracture of the 4th toe, 2-3 toe syndactyly, Radioulnar syno... ORPHA:2712
Absent Radius-Anogenital Anomalies Syndrome
Oligodactyly, Hypoplasia of the radius, Hydrocephalus, Ectrodactyly ORPHA:3016
Albers-Schönberg Osteopetrosis
Short distal phalanx of finger, Abnormal epiphysis morphology, Genu valgum, Abnormal metacarpal m... ORPHA:53
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Toe syndactyly, Finger syndactyly, Hand polydactyly, Hydrocephalus, Foot polyda... ORPHA:60040
Alkuraya-Kucinskas Syndrome
Hand clenching, Ventriculomegaly, Clinodactyly, Overlapping toe, Overlapping fingers, Talipes equ... OMIM:617822
Linear Skin Defects With Multiple Congenital Anomalies 2
Sandal gap, Microphthalmia OMIM:300887
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Microphthalmia With Brain And Digit Anomalies
Postaxial foot polydactyly, Finger syndactyly, Anophthalmia, Microphthalmia, Proximal placement o... ORPHA:139471
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Increased CSF lactate, Increased CSF lysine concentration, Colpocephaly, Hydroc... OMIM:616034
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Rhizomelia, Metaphyseal cupping, Flared metaphysis, Short finger, Femoral bowing, Tibial bowing, ... OMIM:608940
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, Femoral bowing, Hypoplasti... OMIM:187600
3P25.3 Microdeletion Syndrome
Broad thumb, Broad hallux, Overlapping toe, Postaxial polydactyly, 2-3 finger syndactyly, Microph... ORPHA:435638
Nasu-Hakola Disease
Ventriculomegaly, Abnormal epiphysis morphology, Hydrocephalus ORPHA:2770
Duane-Radial Ray Syndrome
Radial deviation of the hand, Absent thumb, Optic disc hypoplasia, Short thumb, Shoulder dislocat... OMIM:607323
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal metacarpal morphology, Brachydactyly, Hydrocephalus ORPHA:93262
Ring Chromosome 10 Syndrome
Tapered finger, Sandal gap, Microphthalmia ORPHA:1438
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Increased CSF lactate, Single transverse palmar crease, Microphthalmia OMIM:619053
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Brachydactyly, Hydrocephalus, Abnormality of the elbow ORPHA:2701
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Optic disc hypoplasia, Apla... ORPHA:959
Baraitser-Winter Syndrome 2
Ventriculomegaly, Microphthalmia OMIM:614583
Achondroplasia
Rhizomelia, Radial bowing, Flared metaphysis, Femoral bowing, Limited elbow extension, Trident ha... OMIM:100800
Endocrine-Cerebroosteodysplasia
Ventriculomegaly, Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Tibial bowing, Si... OMIM:612651
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Prominent fingertip pads OMIM:300558
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Bilateral microphthalmos ORPHA:77299
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly, Anophthalmia, Microphthalmia ORPHA:77298
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Limb undergrowth, Abnormal metaphysis morphology ORPHA:1861
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Brachydactyly, Microphthalmia OMIM:614526
Infantile Sialic Acid Storage Disease
Metaphyseal irregularity, Hydrocephalus OMIM:269920
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hypoplastic ilia, Micromelia, Broad long bones, Clubbing of fingers, Encephalocele, Talipes equin... ORPHA:1865
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Broad proximal phalanges of the hand, Bilateral microphthalmos, Ethmoidal encephalocele, Short fo... OMIM:607597
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Temple Syndrome
Small hand, Short foot, Hydrocephalus, Clinodactyly OMIM:616222
Trisomy 1Q
Ventriculomegaly, Toe syndactyly, Preaxial hand polydactyly, Camptodactyly of finger, Anophthalmi... ORPHA:261344
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Broad hallux, Lateral ventricle dilatation, Single transverse palmar crease, Microphthalmia OMIM:614105
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Occipital encephalocele, Dilated fourth ventricle, Hydrocephalus, Microphthalmi... ORPHA:370959
Monosomy 18P
Holoprosencephaly, Brachydactyly, Microphthalmia ORPHA:1598
1Q21.1 Microdeletion Syndrome
Broad thumb, Toe syndactyly, Clinodactyly of the 5th finger, Talipes equinovarus, Hand polydactyl... ORPHA:250989
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Ventriculomegaly, Congenital hip dislocation, Finger syndactyly, ... ORPHA:1647
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Y-shaped metatarsals, Y-shaped metacarpals, Preaxial ... OMIM:146510
Triploidy
Finger syndactyly, Hydrocephalus, Meningocele, Holoprosencephaly, Aplasia/Hypoplasia affecting th... ORPHA:3376
Fanconi Anemia, Complementation Group I
Absent thumb, Short 1st metacarpal, Short thumb, Colpocephaly, Hypoplasia of the radius, Micropht... OMIM:609053
Cerebrooculofacioskeletal Syndrome 2
Rocker bottom foot, Camptodactyly of finger, Microphthalmia OMIM:610756
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Sandal gap, Camptodactyly of finger, Single transverse palmar crease, 2-3 toe syndactyly, Hallux ... OMIM:619951
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Brachydactyly, Hydrocephalus ORPHA:2180
Congenital Rubella Syndrome
Abnormal metaphysis morphology, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Seckel Syndrome 2
Clinodactyly of the 5th finger, Microphthalmia OMIM:606744
Joubert Syndrome 14
Encephalocele, Postaxial polydactyly, Hydrocephalus, Microphthalmia, Meningocele, Dandy-Walker ma... OMIM:614424
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Ritscher-Schinzel Syndrome 3
Short 1st metacarpal, Short first metatarsal, Epiphyseal stippling, Ulnar bowing, Hypoplasia of t... OMIM:619135
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Rhizomelia, Abnormally large globe, Sandal gap, Flared metaphysis, Shoulder ... OMIM:245600
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Trisomy 13
Abnormal pelvic girdle bone morphology, Ectrodactyly, Aplasia/Hypoplasia of the iris, Anophthalmi... ORPHA:3378
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Microphthalmia, Clinodact... ORPHA:1352
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Hydrocephalus, Microphthalmia OMIM:615249
Tetrasomy 15Q26
Arachnodactyly, Camptodactyly, Hydrocephalus, Dandy-Walker malformation OMIM:614846
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Chromosome 13Q33-Q34 Deletion Syndrome
Short thumb, Overlapping toe, Distally placed thumb, Encephalocele, Single transverse palmar crea... OMIM:619148
Chondrodysplasia Punctata 2, X-Linked Dominant
Ventriculomegaly, Abnormal pelvic girdle bone morphology, Rhizomelia, Hemiatrophy, Stippled calci... OMIM:302960
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Acetabular dysplasia, Colpocephaly, Hydrocephalus, Hip dysplasia, Hammertoe, Co... OMIM:619833
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Garg-Mishra Progeroid Syndrome
Slender long bone, Slender metacarpals, Microphthalmia, Broad palm, Coxa valga OMIM:620601
Meckel Syndrome 14
Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Postaxial polydact... OMIM:619879
Basel-Vanagaite-Smirin-Yosef Syndrome
Deviation of the 2nd finger, Dilated third ventricle, Finger syndactyly, Lateral ventricle dilata... ORPHA:464738
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Irregular epiphyses, Delayed pubic bone ossification, 2-3 toe syndactyly, Brachydacty... OMIM:618162
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Sandal gap, Radial deviation of finger, Proximal p... ORPHA:3103
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Ventriculomegaly, Hydrocephalus, Microphthalmia OMIM:616538
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Abnormal spermatogenesis, Male ... ORPHA:261529
Nance-Horan Syndrome
Short metacarpal, Microphthalmia ORPHA:627
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Prominent fingertip pads, Overlapping toe, Overlapping fingers, Hip dysplasia, Microphthalmia OMIM:618494
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Sandal gap, Clinodactyly, Broad hallux, 3-4 toe syndactyly, Brachydactyly, Microphthalmia OMIM:618727
Chromosome 1Q41-Q42 Deletion Syndrome
Ventriculomegaly, Sandal gap, Talipes equinovarus, Microphthalmia, Holoprosencephaly, 3-4 finger ... OMIM:612530
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Myelomeningocele, ... ORPHA:90652
Myopathy, Centronuclear, X-Linked
Arachnodactyly, Slender toe, Hydrocephalus, Dandy-Walker malformation OMIM:310400
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus, Hypoplasia of the iris OMIM:614195
Frontorhiny
Cranium bifidum occultum, Finger clinodactyly, Camptodactyly of finger, Encephalocele, Basal ence... ORPHA:391474
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Bilateral single transverse palmar creases, Microphthalmia ORPHA:3191
Fanconi Anemia, Complementation Group S
Proximal placement of thumb, Clinodactyly, Microphthalmia OMIM:617883
Stevenson-Carey Syndrome
Camptodactyly, Joint contracture of the hand, Hip dysplasia, Microphthalmia OMIM:611961
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Ventriculomegaly, Small hand, Microphthalmia, Short foot, Short palm OMIM:241410
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Narrow pelvis bone, Femoral bowing, Humeroradial synostosis, Ulnar bowing, Arachnodactyly, Hydroc... OMIM:207410
Chromosome 17P13.1 Deletion Syndrome
Broad hallux, Elbow flexion contracture, Long hallux, Arachnodactyly, Hallux valgus, Hydrocephalu... OMIM:613776
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Ventriculomegaly With Cystic Kidney Disease
Postaxial polydactyly, Ventriculomegaly, Hydrocephalus OMIM:219730
Walker-Warburg Syndrome
Ventriculomegaly, Anophthalmia, Metatarsus valgus, Hydrocephalus, Microphthalmia, Dandy-Walker ma... ORPHA:899
Kapur-Toriello Syndrome
Joint contracture of the hand, Short thumb, Camptodactyly of finger, Overlapping fingers, Bilater... OMIM:244300
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia OMIM:167730
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Baraitser-Winter Syndrome 1
Ventriculomegaly, Duplication of phalanx of hallux, Microphthalmia OMIM:243310
Acrofacial Dysostosis 1, Nager Type
Toe syndactyly, Absent thumb, Clinodactyly, Short toe, Radial deviation of finger, Foot oligodact... OMIM:154400
Houge-Janssens Syndrome 1
Congenital hip dislocation, Ventriculomegaly, Hydrocephalus OMIM:616355
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Short distal phalanx of finger, Abnormally large globe, Short toe, Hydrocephalus, Delayed ossific... OMIM:239300
Pseudotrisomy 13 Syndrome
Postaxial foot polydactyly, Encephalocele, 2-3 toe syndactyly, Hydrocephalus, Microphthalmia, Pos... OMIM:264480
Marden-Walker Syndrome
Joint contracture of the hand, Arachnodactyly, Talipes equinovarus, Radioulnar synostosis, Microp... OMIM:248700
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Broad distal phalanx of finger, Postaxial foot polydactyly, 2-3 toe syndactyly, Postaxial polydac... ORPHA:404440
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Colpocephaly, Brachydactyly, Hydrocephalus OMIM:620156
Solitary Median Maxillary Central Incisor
Holoprosencephaly, Anophthalmia, Microphthalmia OMIM:147250
Multiple Sulfatase Deficiency
Increased CSF protein concentration, Ventriculomegaly, Broad thumb, Broad hallux, Hydrocephalus OMIM:272200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Ventriculomegaly, Encephalocele, Hydrocephalus, Adducted thumb, Microphthalmia, Dandy-Walker malf... OMIM:614643
Intellectual Developmental Disorder, Autosomal Dominant 65
Single transverse palmar crease, Short palm, Clinodactyly of the 5th finger, Short foot, Noncommu... OMIM:619320
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Broad toe, Hip dysplasia, Short 2nd toe, Clinodactyly of the 5th finger, Rocker bo... OMIM:612582
Joubert Syndrome 37
Postaxial polydactyly, Microphthalmia OMIM:619185
Microphthalmia/Coloboma 12
Optic nerve aplasia, Ventriculomegaly, Microphthalmia OMIM:120200
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Hydrocephalus, Clinodactyly, Syndactyly ORPHA:2169
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Small hand, 2-4 toe cutaneous syndactyly, Broad long bo... OMIM:257850
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Macular hypoplasia, Colpocephaly, Hydrocephalus, Communicating hydrocephalus OMIM:615219
Cohen Syndrome
Finger syndactyly, Sandal gap, Abnormal hip bone morphology, Genu valgum, Narrow palm, Arachnodac... ORPHA:193
Vacterl With Hydrocephalus
Anophthalmia, Hydrocephalus, Spina bifida, Microphthalmia, Hypoplasia of the radius, Aqueductal s... ORPHA:3412
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation, Syndactyly OMIM:220210
Rere-Related Neurodevelopmental Syndrome
Ventriculomegaly, Hip dysplasia, Microphthalmia ORPHA:494344
Acrodysostosis 1 With Or Without Hormone Resistance
Long hallux, Cone-shaped epiphyses of the phalanges of the hand, Epiphyseal stippling, Hydrocepha... OMIM:101800
Fanconi Anemia, Complementation Group B
Bilateral radial aplasia, Ventriculomegaly, Absent thumb, Optic disc hypoplasia, Hydrocephalus OMIM:300514
Krabbe Disease
Increased CSF protein concentration, Hydrocephalus OMIM:245200
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Hand polydactyly, Hydrocephalus, Absent radius, Proximal placement of thumb OMIM:314390
Neurooculocardiogenitourinary Syndrome
Abnormality of the palmar creases, Microphthalmia OMIM:618652
Steinfeld Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Microphthalmia... OMIM:184705
Chiari Malformation Type Ii
Myelomeningocele, Cervical myelopathy, Hydrocephalus, Spina bifida OMIM:207950
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral microphthalmos, Bilateral microphthalmos OMIM:619318
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Brachydactyly, Drumstick terminal phalanges, Hydrocephalus, Dandy-Walker malformation OMIM:612938
Congenital Primary Aphakia
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... ORPHA:83461
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Encephalocele, Fibular hypopla... OMIM:616300
Microgastria-Limb Reduction Defect Syndrome
Aplastic clavicle, Elbow dislocation, Short thumb, Ectrodactyly, Abnormal morphology of the radiu... ORPHA:2538
Mend Syndrome
Broad hallux, Overlapping toe, Overlapping fingers, 2-3 toe syndactyly, Hand polydactyly, Hydroce... ORPHA:401973
Apert Syndrome
Delayed epiphyseal ossification, Ventriculomegaly, Broad thumb, Synostosis of carpal bones, Finge... OMIM:101200
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Nance-Horan Syndrome
Short phalanx of finger, Broad finger, Microphthalmia OMIM:302350
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Focal Dermal Hypoplasia
Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Abnormal epiphysis morph... ORPHA:2092
Refsum Disease
Hammertoe, Abnormal epiphysis morphology, Short metacarpal, Microphthalmia ORPHA:773
Ciliary Dyskinesia, Primary, 18
Immotile sperm, Male infertility OMIM:614874
Myoclonic-Astatic Epilepsy