banner
Genes Phenotypes Help, News, Blog

Gene: Ranbp1 MGI:96269

Log in to follow

Gene Summary

Name:
RAN binding protein 1
Synonyms:
Htf9a

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal craniofacial morphology Ranbp1tm1b(KOMP)Wtsi HOM E15.5 0.00
abnormal midbrain morphology Ranbp1tm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal hindbrain morphology Ranbp1tm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal placenta size Ranbp1tm1b(KOMP)Wtsi HOM E12.5 0.00
edema Ranbp1tm1b(KOMP)Wtsi HOM E15.5 0.00
abnormal embryo size Ranbp1tm1b(KOMP)Wtsi HOM E12.5 0.00
preweaning lethality, complete penetrance Ranbp1tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal neural tube closure Ranbp1tm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal forebrain morphology Ranbp1tm1b(KOMP)Wtsi HOM E12.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

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 Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
Embryo LacZ

LacZ images wholemount

8 Images

View images
Gross Morphology Embryo E14.5-E15.5

Images

2 Images

View images
Download thumbnail Download
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

View images

Human diseases caused by Ranbp1 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 Ranbp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
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 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
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 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
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 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 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
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
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
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 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
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 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
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 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Type II lissencephaly OMIM:615041
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Ring Chromosome Y Syndrome
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... ORPHA:261529
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Macrocephaly at birth, Occipital encephalocele, Hydrocephalus, Coloboma, Microphthalmia, Type II ... ORPHA:324416
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel... ORPHA:1528
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Azoospermia, Obstructive azoospermia, Decr... ORPHA:399805
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Absent septum pellucidum, Frontal encephalocele, Hypotelorism, Lissenceph... OMIM:218670
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, ... OMIM:613153
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Cerebral atrophy, Coloboma, Microphthalmia, Agenesis of corpus callosum OMIM:274270
Baraitser-Winter Syndrome 2
Short neck, Hypertelorism, Coloboma, Lissencephaly, Secondary microcephaly, Webbed neck, Micropht... OMIM:614583
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microcephaly, Abnormally large globe, Hydrocephalus, Coloboma, Hypoplasia of the brainstem, Progr... OMIM:615249
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
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 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Frontonasal Dysplasia 1
Pericallosal lipoma, Hypertelorism, Anterior basal encephalocele, Coloboma, Cranium bifidum occul... OMIM:136760
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of t... ORPHA:370959
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Periventricular heterotopia, Hypoplasia of the pons, Microcephaly, Partial agenesis of the corpus... OMIM:616171
Meckel Syndrome 13
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia OMIM:617562
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Lambert Syndrome
Aplasia/Hypoplasia of the cerebellum, Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Chorioretinal coloboma, Microphthalmia... OMIM:611638
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of the corpus callosum, Subc... OMIM:615771
Oculocerebrocutaneous Syndrome
Anophthalmia, Orbital encephalocele, Gray matter heterotopia, Hypoplasia of the corpus callosum, ... OMIM:164180
Joubert Syndrome 15
Coloboma, Exencephaly OMIM:614464
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Joubert Syndrome 16
Encephalocele, Coloboma, Dandy-Walker malformation, Hypertelorism OMIM:614465
Lissencephaly 8
Occipital encephalocele, Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypopl... OMIM:617255
Cerebrooculofacioskeletal Syndrome 3
Microcephaly, Cerebellar hypoplasia, Microphthalmia, Agenesis of corpus callosum, Intrauterine gr... OMIM:616570
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology, Ethmoidal encephalo... ORPHA:280195
Biemond Syndrome Type 2
Microphthalmia, Coloboma, Hydrocephalus ORPHA:141333
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... ORPHA:399808
Hartsfield Syndrome
Encephalocele, Hypertelorism, Aplasia/Hypoplasia of the corpus callosum, Lobar holoprosencephaly,... ORPHA:2117
2Q24 Microdeletion Syndrome
Microphthalmia, Coloboma, Hypertelorism, Short neck ORPHA:1617
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Dandy-Walker malformation, Subcortical heterotopia, Agyria, Optic nerve hypoplasia... OMIM:614643
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Coloboma, Chorioretinal coloboma, Agenesis of corpus... OMIM:619111
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus, Cerebellar hypoplasia, Type II lissencephaly OMIM:614830
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Coloboma OMIM:251505
Joubert Syndrome 14
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hypertelorism, Hydroc... OMIM:614424
Verheij Syndrome
Branchial cyst, Optic nerve hypoplasia, Microcephaly, Short neck, Cerebral atrophy, Coloboma, Int... OMIM:615583
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Holoprosencephaly
Encephalocele, Anophthalmia, Short neck, Microcephaly, Hypertelorism, Hydrocephalus, Abnormality ... ORPHA:2162
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Microcephaly OMIM:616335
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Molar toot... OMIM:611134
Adams-Oliver Syndrome 2
Microcephaly, Hypertelorism, Hydrocephalus, Cerebral atrophy, Lateral ventricle dilatation, Cereb... OMIM:614219
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Coloboma, Absent septum pellucidum, Holoprosencephaly, Anterior encephalocele OMIM:601357
Gombo Syndrome
Microphthalmia, Microcephaly OMIM:233270
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Megalencephaly, Hypertelorism, Hydrocephalus, Progressive macrocephaly, Microphthalmia, Cavum sep... OMIM:602501
Solitary Median Maxillary Central Incisor
Anophthalmia, Microcephaly, Hypotelorism, Coloboma, Holoprosencephaly, Microphthalmia, Cyclopia OMIM:147250
Intellectual Developmental Disorder, Autosomal Recessive 67
Coloboma, Microcephaly OMIM:618295
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebella... OMIM:613155
Warburg Micro Syndrome 1
Cerebellar vermis hypoplasia, Microcephaly, Perisylvian polymicrogyria, Cerebral atrophy, Deeply ... OMIM:600118
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... OMIM:609583
Joubert Syndrome 10
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:300804
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Hydrocephalus, Cerebellar vermis hypoplasia, Abnormal brainstem m... ORPHA:1532
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Anencephaly OMIM:614120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Leukoencephalopathy, Hypoplasia of... OMIM:615181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Dandy-Walker malformation, Agyria, Optic nerve hypoplasia, Microcephaly,... OMIM:236670
Subependymal Nodular Heterotopia
Occipital encephalocele, Focal cortical dysplasia, Myelomeningocele, Meningocele, Partial agenesi... ORPHA:101030
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Microcephaly, Short neck, Microphthalmia OMIM:613885
Ritscher-Schinzel Syndrome 1
Hypertelorism, Hydrocephalus, Low posterior hairline, Coloboma, Intrauterine growth retardation, ... OMIM:220210
Joubert Syndrome 18
Molar tooth sign on MRI, Occipital encephalocele, Agenesis of cerebellar vermis, Intrauterine gro... OMIM:614815
Hydrolethalus
Anophthalmia, Absent septum pellucidum, Hydrocephalus, Anencephaly, Deeply set eye, Microphthalmi... ORPHA:2189
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Abnormal cortical gyration, Hypertelorism, Exencephaly, Abnormality of neuronal mi... ORPHA:2211
Pontocerebellar Hypoplasia, Type 11
Microcephaly, Hypoplasia of the pons, Coloboma, Cerebellar hypoplasia, Hypoplasia of the corpus c... OMIM:617695
Congenital Toxoplasmosis
Cerebral calcification, Microcephaly, Hydrocephalus, Microphthalmia, Intrauterine growth retardation ORPHA:858
Cofs Syndrome
Cerebral calcification, Microcephaly, Short neck, Aplasia/Hypoplasia of the cerebellum, Microphth... ORPHA:1466
Meckel Syndrome, Type 10
Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Molar toot... OMIM:614175
Walker-Warburg Syndrome
Anophthalmia, Abnormal cortical gyration, Absent septum pellucidum, Microcephaly, Pachygyria, Hyd... ORPHA:899
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Microphthalmia, Isolated 4
Microphthalmia, Coloboma OMIM:613094
Joubert Syndrome 30
Molar tooth sign on MRI, Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malforma... OMIM:617622
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Agenesis of cerebellar vermis, Hypertelorism, Microphthalmia, Agenesis of corpus c... ORPHA:228390
15Q24 Microdeletion Syndrome
Coloboma, Myelomeningocele, Hypertelorism, Microcephaly ORPHA:94065
Pierpont Syndrome
Abnormal cortical gyration, Hypertelorism, Short neck, Deeply set eye, Primary microcephaly, Micr... ORPHA:487825
Neurooculocardiogenitourinary Syndrome
Redundant neck skin, Hypertelorism, Coloboma, Secondary microcephaly, Microphthalmia OMIM:618652
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Cystic hygroma, Dandy-Walker malformatio... OMIM:603194
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, Microcephaly, Webbed neck ORPHA:1131
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Joubert Syndrome 7
Molar tooth sign on MRI, Encephalocele, Hypoplasia of the brainstem, Brainstem dysplasia OMIM:611560
Pseudotrisomy 13 Syndrome
Encephalocele, Microcephaly, Hydrocephalus, Hypotelorism, Holoprosencephaly, Cerebellar hypoplasi... OMIM:264480
Baraitser-Winter Syndrome 1
Short neck, Microcephaly, Hypertelorism, Low posterior hairline, Lissencephaly, Chorioretinal col... OMIM:243310
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:617127
Bresek Syndrome
Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Neonatal death, Microphthalmia, Iris colobom... ORPHA:85284
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Joubert Syndrome 22
Molar tooth sign on MRI, Intrauterine growth retardation, Agenesis of cerebellar vermis OMIM:615665
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Joubert Syndrome 23
Dysplastic corpus callosum, Coloboma OMIM:616490
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Microcephaly, Hydrocephalus, Partial absence of cerebellar vermis, Buphthalmos, Hy... OMIM:613150
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Coloboma, Iris coloboma OMIM:610023
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Hypoplasia of the brains... OMIM:253800
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Microcephaly, Increased nuchal translucency, Gray matter heterotopia, Branchial anomaly, Coloboma... ORPHA:453499
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Microcephaly ORPHA:435938
Joubert Syndrome 9
Molar tooth sign on MRI, Encephalocele OMIM:612285
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Microcephaly, Short neck, Hypertelorism, Thick corpus callosum, Coloboma, Deeply set eye, Hypopla... ORPHA:464288
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Hypertelorism, Agenesis of corpus callosum, Short neck ORPHA:93267
Linear Skin Defects With Multiple Congenital Anomalies 2
Hypertelorism, Microcephaly, Hypoplasia of the corpus callosum, Microphthalmia, Agenesis of corpu... OMIM:300887
Facial Clefting, Oblique, 1
Microphthalmia, Coloboma OMIM:600251
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Microphthalmia, ... OMIM:614833
Silver-Russell Syndrome 3
Short stature, Unilateral cryptorchidism, Small for gestational age, Postnatal growth retardation... OMIM:616489
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Microcephaly, Hypertelorism, Hydrocephalus, Meningocele, Anencephaly, Spinal dysra... ORPHA:1908
Joubert Syndrome 32
Molar tooth sign on MRI, Abnormal cerebellum morphology OMIM:617757
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Hypertelorism, Microcephaly, Periventricular heterotopia, Lateral ventricle dilatation, Hypoplasi... OMIM:614105
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus, Retinal coloboma OMIM:601794
Microphthalmia, Syndromic 13
Microphthalmia, Iris coloboma, Chorioretinal coloboma, Microcephaly OMIM:300915
Cat-Eye Syndrome
Hypertelorism, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Intrauterine growth retarda... ORPHA:195
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Hydrocephalus, Holoprosencephaly, Microphthalmia, Agenesis of corpus callosum, Iris... ORPHA:77298
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Pierpont Syndrome
Microcephaly, Hypertelorism, Short neck, Deeply set eye, Microphthalmia OMIM:602342
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy, Agen... OMIM:207950
Stromme Syndrome
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hypertelorism, Hydrocephalus,... OMIM:243605
Curry-Jones Syndrome
Megalencephaly, Lipomyelomeningocele, Hemimegalencephaly, Microphthalmia, Occipital meningocele, ... OMIM:601707
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Microcephaly, Hypertelorism, Hydrocephalus, Optic disc coloboma, Low posterior... ORPHA:261337
Frontofacionasal Dysplasia
Encephalocele, Hypertelorism, Hypoplasia of olfactory tract, Hypoplasia of the corpus callosum, M... ORPHA:1791
Oculogastrointestinal Neurodevelopmental Syndrome
Coloboma, Bilateral microphthalmos, Unilateral microphthalmos, Microcephaly OMIM:619318
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Microcephaly, Increased nuchal translucency, Gray matter heterotopia, Bra... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Microcephaly, Increased nuchal translucency, Gray matter heterotopia, Bra... ORPHA:352665
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the c... OMIM:216360
Monosomy 18P
Microcephaly, Short neck, Low posterior hairline, Holoprosencephaly, Webbed neck, Microphthalmia ORPHA:1598
Temtamy Syndrome
Hypertelorism, Aplasia/Hypoplasia of the corpus callosum, Chorioretinal coloboma, Macrocephaly, M... ORPHA:1777
Kapur-Toriello Syndrome
Short neck, Dysplastic corpus callosum, Polymicrogyria, Retinal coloboma, Microphthalmia, Pachygy... ORPHA:2328
Joubert Syndrome 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth ... OMIM:610688
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma OMIM:616428
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Diffuse cerebral atrophy, Microcephaly, Basal ganglia calcification, D... OMIM:214150
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Microcephaly, Hypertelorism, Partial absence of cerebellar vermis, Coloboma, Cerebellar hypoplasi... ORPHA:329224
Alg3-Cdg
Cerebral white matter atrophy, Microcephaly, Hypoplasia of the pons, Neural tube defect, Subcorti... ORPHA:79321
Holoprosencephaly 7
Alobar holoprosencephaly, Microcephaly, Hypertelorism, Hydrocephalus, Partial agenesis of the cor... OMIM:610828
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Bilateral microphthalmos, Latera... ORPHA:77299
Congenital Disorder Of Glycosylation, Type Iq
Cerebellar vermis hypoplasia, Hypertelorism, Coloboma, Microphthalmia, Polymicrogyria OMIM:612379
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Webbed neck, Micr... OMIM:618914
Frontorhiny
Encephalocele, Pericallosal lipoma, Hypertelorism, Aplasia/Hypoplasia of the corpus callosum, Bas... ORPHA:391474
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Microcephaly ORPHA:2528
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra... OMIM:617914
Microcephaly-Micromelia Syndrome
Short neck, Aqueductal stenosis, Microcephaly, Simplified gyral pattern, Aplasia/Hypoplasia of th... OMIM:251230
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar dysplasia, Dilated fourth ventricle, Elongated superior cerebellar peduncle, Abnormal ... ORPHA:370022
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Meckel Syndrome, Type 5
Microphthalmia, Occipital encephalocele, Anencephaly OMIM:611561
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microcephaly, Simplified gyral pattern, Cerebral atrophy, Cerebellar hypoplasia, Microphthalmia, ... OMIM:251270
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Blepharocheilodontic Syndrome 1
Neural tube defect, Hypertelorism OMIM:119580
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Otodental Dysplasia
Delayed eruption of teeth, Coloboma OMIM:166750
Congenital Varicella Syndrome
Microphthalmia, Intrauterine growth retardation, Cerebral cortical atrophy, Microcephaly ORPHA:291
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Bilateral... ORPHA:90797
Temtamy Syndrome
Hypertelorism, Thick corpus callosum, Chorioretinal coloboma, Microphthalmia, Agenesis of corpus ... OMIM:218340
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:618161
Slc35A2-Cdg
Cerebellar atrophy, Abnormal midbrain morphology, Atrophy/Degeneration affecting the brainstem, I... ORPHA:356961
Joubert Syndrome 2
Encephalocele, Agenesis of cerebellar vermis, Brainstem dysplasia, Hydrocephalus, Hypoplasia of t... OMIM:608091
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Hypopl... OMIM:616546
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebellar vermis hypoplasia, Cerebral calcification, Hydrocephalus, Buphthalmos, Hypoplasia of t... OMIM:616538
Abruzzo-Erickson Syndrome
Coloboma OMIM:302905
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Mmep Syndrome
Microphthalmia, Microcephaly ORPHA:3434
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Delayed eruption of teeth, Microcephaly, Hypertelorism, Anencephaly, Deeply set ey... OMIM:619148
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hypertelorism, Cerebral atrophy, Coloboma, Hypoplasia of the corpus callosum, Periventricular nod... OMIM:618659
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Lymphedema OMIM:607131
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Hydrocephalus, Intrauterine growth retardation, Macrocephaly OMIM:300863
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microcephaly, Chorioretinal coloboma, Microphthalmia, Inferior cerebellar vermis hy... ORPHA:139471
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... ORPHA:99429
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Pelvis-Shoulder Dysplasia
Microphthalmia, Optic disc coloboma, Spina bifida occulta, Iris coloboma OMIM:169550
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Hypotelori... ORPHA:2166
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Microcephaly OMIM:278780
Xk Aprosencephaly Syndrome
Hypotelorism, Microphthalmia, Microcephaly ORPHA:3469
Marden-Walker Syndrome
Short neck, Microcephaly, Hypertelorism, Hypoplasia of the brainstem, Cerebellar hypoplasia, Micr... OMIM:248700
Joubert Syndrome 3
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:608629
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Iris coloboma, Chorioretinal coloboma OMIM:120433
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Hypertelorism, Microphthalmia, Iris coloboma ORPHA:861
Monosomy 13Q14
Microcephaly, Short neck, Hypertelorism, Holoprosencephaly, Hypoplasia of the corpus callosum, We... ORPHA:1587
Joubert Syndrome 39
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar vermis hypoplasia OMIM:619562
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Absent septum pellucidum, Microcephaly, Short neck, Colpocephaly, Microph... OMIM:609053
Nanophthalmos
Microphthalmia ORPHA:35612
Abruzzo-Erickson Syndrome
Coloboma, Iris coloboma, Chorioretinal coloboma ORPHA:921
Curry-Jones Syndrome
Hypertelorism, Optic disc coloboma, Microphthalmia, Agenesis of corpus callosum, Iris coloboma ORPHA:1553
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Abnormal cerebral morphology OMIM:113650
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Coloboma, Hypertelorism, Short neck OMIM:616789
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Cortical dysplasia, Porencephalic cyst, Hypoplasia of the iris, Cerebellar hypopla... OMIM:613001
Chromosome 1Q41-Q42 Deletion Syndrome
Microcephaly, Hypertelorism, Hypotelorism, Deeply set eye, Cerebellar hypoplasia, Holoprosencepha... OMIM:612530
Joubert Syndrome 1
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem dysplasia, Occipital myelo... OMIM:213300
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Gray matter heterotopia, Thin corpus callosum, Microcephaly OMIM:619694
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Iris coloboma OMIM:610092
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Spina bifida, Short neck, Microcephaly, Coloboma, Retinal coloboma, Hypop... ORPHA:508498
Chromosome 13Q14 Deletion Syndrome
Absent septum pellucidum, Hypotelorism, Holoprosencephaly, Hypoplasia of the corpus callosum, Cho... OMIM:613884
Trisomy 18
Spina bifida, Microcephaly, Hypertelorism, Anencephaly, Aplasia/Hypoplasia of the corpus callosum... ORPHA:3380
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Abnormal brainstem morphology ORPHA:255182
Jacobsen Syndrome
Microcephaly, Short neck, Hypertelorism, Hydrocephalus, Macular hypoplasia, Holoprosencephaly, Ch... OMIM:147791
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Coloboma, Hypertelorism OMIM:167730
Fanconi Anemia, Complementation Group D2
Microcephaly, Hypertelorism, Hydrocephalus, Prolonged G2 phase of cell cycle, Hypotelorism, Hypop... OMIM:227646
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
1Q21.1 Microdeletion Syndrome
Microcephaly, Hydrocephalus, Deeply set eye, Microphthalmia, Agenesis of corpus callosum, Iris co... ORPHA:250989
Joubert Syndrome With Oculorenal Defect
Molar tooth sign on MRI, Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus ORPHA:2318
Adult Krabbe Disease
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology ORPHA:206448
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Relative macrocephaly, Macrocephaly, Coloboma, Shallow orbits, Microphthalmia, Cavum septum pellu... OMIM:617306
Aicardi Syndrome
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Partial agenesis of the corpus callosum... OMIM:304050
Joubert Syndrome With Renal Defect
Molar tooth sign on MRI, Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus ORPHA:220497
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Hypotelorism, Abnormal peri... ORPHA:468631
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Mosaic Trisomy 9
Spina bifida, Short neck, Microcephaly, Hypertelorism, Hypotelorism, Biparietal narrowing, Webbed... ORPHA:99776
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Deeply set eye, Branchial anomaly, Hypertelorism ORPHA:466950
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal brainstem mo... ORPHA:163961
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Hypertelorism, Deeply set eye, Hypoplasia of the corpus callosum, M... OMIM:619185
Trisomy 13
Anophthalmia, Hypotelorism, Aplasia/Hypoplasia of the iris, Deeply set eye, Microphthalmia, Cysti... ORPHA:3378
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Hydrocephalus, Microphthalmia, Agenesis of corpus callosum, Iris coloboma ORPHA:3301
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Hydrocephalus, Cerebellar hypoplasia, Intrauterine growth retardation ORPHA:163966
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology, Lymphedema ORPHA:79279
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... ORPHA:8
Nasopalpebral Lipoma-Coloboma Syndrome
Hypertelorism, Microcephaly, Bilateral microphthalmos, Coloboma, Microphthalmia ORPHA:2399
Cataract 9, Multiple Types
Microphthalmia, Iris coloboma OMIM:604219
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Frontonasal Dysplasia 2
Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Microcephaly, Hyperte... OMIM:613451
Pelvis-Shoulder Dysplasia
Spina bifida, Hydrocephalus, Bilateral microphthalmos, Retinal coloboma, Hydranencephaly, Iris co... ORPHA:2839
Mycophenolate Mofetil Embryopathy
Hypertelorism, Hydrocephalus, Chorioretinal coloboma, Microphthalmia, Agenesis of corpus callosum... ORPHA:268249
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Joubert Syndrome 8
Molar tooth sign on MRI, Occipital encephalocele OMIM:612291
Bor Syndrome
Branchial cyst ORPHA:107
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Nanophthalmos 4
Microphthalmia OMIM:615972
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Chiari malformation, Hydrom... ORPHA:268810
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Intrauterine growth retardation, Deeply set eye, Microcephaly ORPHA:261330
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... ORPHA:90793
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Stevenson-Carey Syndrome
Microphthalmia, Coloboma, Cerebellar hypoplasia, Hypoplasia of the corpus callosum OMIM:611961
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Joubert Syndrome With Ocular Defect
Molar tooth sign on MRI, Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus ORPHA:220493
Fanconi Anemia, Complementation Group R
Microphthalmia, Hydrocephalus, Microcephaly OMIM:617244
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele OMIM:607597
Phakomatosis Pigmentokeratotica
Coloboma, Spina bifida ORPHA:2874
2Q31.1 Microdeletion Syndrome
Microcephaly, Short neck, Hypertelorism, Optic disc coloboma, Coloboma, Proptosis, Cerebral corti... ORPHA:251014
Duplication Of The Pituitary Gland
Encephalocele, Abnormal midbrain morphology, Polyhydramnios ORPHA:314621
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Cerebellar vermis hypoplasia, Increased nuchal translucency, Cerebral atrophy, Deeply set eye, Hy... OMIM:618494
Neu-Laxova Syndrome 1
Spina bifida, Short neck, Hypertelorism, Microphthalmia, Agenesis of corpus callosum, Stillbirth,... OMIM:256520
Microphthalmia, Syndromic 12
Neonatal death, Microphthalmia, Anophthalmia OMIM:615524
Meckel Syndrome 14
Occipital encephalocele, Hypertelorism, Short neck, Increased nuchal translucency, Holoprosenceph... OMIM:619879
Fanconi Anemia, Complementation Group G
Microphthalmia, Microcephaly OMIM:614082
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:1473
Ring Chromosome 10 Syndrome
Microphthalmia, Hypertelorism, Intrauterine growth retardation, Short neck ORPHA:1438
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Hypertelorism, Short neck, Low posterior hairline, Webbed neck, M... ORPHA:85194
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Meningocel... ORPHA:397715
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Cerebellar h... OMIM:619306
Cousin Syndrome
Short neck, Hypertelorism, Hydrocephalus, Deeply set eye, Macrocephaly, Hydranencephaly, Micropht... OMIM:260660
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Buphthalmos, Coloboma, Hy... OMIM:253280
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Microcephaly, Alobar holoprosencephaly, Hypotelorism, Pr... OMIM:157170
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Microphthalmia, Secondary microcephaly, Cerebellar hypoplasia OMIM:613730
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Cerebral cortical atrophy, Intrauterine growth retardation ORPHA:48431
8Q24.3 Microdeletion Syndrome
Branchial cyst, Optic nerve hypoplasia, Short neck, Bilateral microphthalmos, Deeply set eye, Sec... ORPHA:508488
Oligomeganephronia
Branchial cyst, Optic disc coloboma ORPHA:2260
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Holoprosencephaly 1
Microcephaly, Alobar holoprosencephaly, Hypotelorism, Cerebellar hypoplasia, Microphthalmia, Cycl... OMIM:236100
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus, Porencephalic cyst, Microphthalmia, Periventricular leukomalacia ORPHA:974
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Cerebellar atrophy, Abnormal brainstem morphology ORPHA:300573
Basal Cell Nevus Syndrome 1
Spina bifida, Hypertelorism, Hydrocephalus, Calcification of falx cerebri, Macrocephaly, Micropht... OMIM:109400
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma, Macular hypoplasia, Hypoplastic iris... ORPHA:2334
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microcephaly, Abnormality of neuronal migration, Hypotelorism, Holoprosencephaly, Microphthalmia,... ORPHA:3186
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Global brain atrophy, Microcephaly OMIM:308350
Meckel Syndrome, Type 1
Occipital encephalocele, Natal tooth, Short neck, Microcephaly, Large placenta, Hydrocephalus, Hy... OMIM:249000
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Deeply set eye, Intrauterine growth retardation, Microcephaly OMIM:610756
Sandestig-Stefanova Syndrome
Short neck, Hypoplasia of the corpus callosum, Primary microcephaly, Microphthalmia, Intrauterine... OMIM:618804
Kapur-Toriello Syndrome
Short neck, Polymicrogyria, Low posterior hairline, Retinal coloboma, Microphthalmia, Pachygyria,... OMIM:244300
Witteveen-Kolk Syndrome
Branchial fistula, Microcephaly, Hypertelorism, Dysplastic corpus callosum, Cortical dysplasia, S... OMIM:613406
Japanese Encephalitis
Abnormal substantia nigra morphology, Abnormal midbrain morphology, Abnormal pons morphology, Cer... ORPHA:79139
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Absent septum pellucidum, Anencephaly, Gray matter heterotopia, Agene... OMIM:236680
Branchiooculofacial Syndrome
Agenesis of cerebellar vermis, Anophthalmia, Microcephaly, Short neck, Hypertelorism, Low posteri... OMIM:113620
Meckel Syndrome
Encephalocele, Anophthalmia, Microcephaly, Hypertelorism, Hydrocephalus, Anencephaly, Lobar holop... ORPHA:564
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Microcephaly, Coloboma, Hypoplasia of ... OMIM:206900
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Relative macrocephaly, Microcephaly, Short neck, Coloboma, Deeply set eye, Macrocephaly ORPHA:251028
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Hypertelorism, Optic disc coloboma, Microphthalmia, Iris coloboma, I... OMIM:620186
Srd5A3-Cdg
Coloboma, Optic disc hypoplasia ORPHA:324737
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcephaly, Hypertelorism, Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia,... OMIM:616449
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Pa... OMIM:610829
Linear Skin Defects With Multiple Congenital Anomalies 1
Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Microphthalmia, Agenesis of ... OMIM:309801
Vacterl With Hydrocephalus
Anophthalmia, Spina bifida, Aqueductal stenosis, Hydrocephalus, Microphthalmia, Intrauterine grow... ORPHA:3412
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hyp... ORPHA:444072
Amoebiasis Due To Free-Living Amoebae
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal brainstem MRI signa... ORPHA:68
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal brainstem morphology ORPHA:467166
Warburg Micro Syndrome 4
Perisylvian polymicrogyria, Deeply set eye, Secondary microcephaly, Hypoplasia of the corpus call... OMIM:615663
Micro Syndrome
Cerebellar vermis hypoplasia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Lissenceph... ORPHA:2510
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation, Microcephaly ORPHA:290
Joubert Syndrome 5
Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm... OMIM:610188
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morpholog... ORPHA:98755
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Natal tooth, Relative macrocephaly, Hypertelorism, Stillbirth, Cerebellar hypoplas... OMIM:616300
Cree Mental Retardation Syndrome
Coloboma, Hypertelorism, Webbed neck OMIM:606851
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Hydrocephalus OMIM:602361
Ritscher-Schinzel Syndrome 3
Relative macrocephaly, Cerebellar vermis hypoplasia, Hypertelorism, Chorioretinal coloboma, Micro... OMIM:619135
Arima Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem ... OMIM:243910
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Increased nuchal translucency, Lateral ventricle dilatation, Cerebe... ORPHA:1692
Moebius Syndrome
Microphthalmia, Hypertelorism, Hypoplasia of the brainstem, Short neck OMIM:157900
Cerebrooculofacioskeletal Syndrome 4
Microcephaly, Bilateral microphthalmos, Simplified gyral pattern, Deeply set eye, Cerebellar hypo... OMIM:610758
Rere-Related Neurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Chorioretinal coloboma, Micropht... ORPHA:494344
Heart And Brain Malformation Syndrome
Cerebellar vermis hypoplasia, Microcephaly, Hypertelorism, Cerebral atrophy, Hypoplasia of the co... OMIM:616920
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
3Q29 Microduplication Syndrome
Microcephaly, Short neck, Biparietal narrowing, Macrocephaly, Aniridia, Microphthalmia, Iris colo... ORPHA:251038
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia OMIM:601374
Bohring-Opitz Syndrome
Microcephaly, Hypertelorism, Coloboma, Proptosis, Hypoplasia of the corpus callosum, Intrauterine... ORPHA:97297
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Pericallosal lipoma, Hypertelorism, Cranium bifidum occultum, Microphthalmia, Agenesis of corpus ... ORPHA:306542
Microphthalmia, Syndromic 8
Microphthalmia, Microcephaly OMIM:601349
Fanconi Anemia, Complementation Group L
Hypertelorism, Short neck, Hydrocephalus, Cerebellar hypoplasia, Webbed neck, Microphthalmia, Int... OMIM:614083
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypertelorism, Hypoplastic an... OMIM:616975
Familial Multiple Lipomatosis
Cerebral calcification, Coloboma, Hypoplasia of the corpus callosum, Macrocephaly, Premature erup... ORPHA:199276
Microphthalmia, Lenz Type
Delayed eruption of teeth, Microcephaly, Optic disc coloboma, Aplasia/Hypoplasia of the corpus ca... ORPHA:568
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Hydrocephalus, Branchial anomaly, Microphthalmia, Agenesis... OMIM:164210
Warburg Micro Syndrome 2
Microcephaly, Deeply set eye, Secondary microcephaly, Hypoplasia of the corpus callosum, Micropht... OMIM:614225
Hallermann-Streiff Syndrome
Natal tooth, Spina bifida, Microcephaly, Optic disc coloboma, Chorioretinal coloboma, Microphthal... OMIM:234100
Monosomy 9Q22.3
Delayed eruption of teeth, Short neck, Hydrocephalus, Calcification of falx cerebri, Macrocephaly... ORPHA:77301
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Hypertelorism, Short neck, Retinal coloboma, Microphthalmia, Inferior cerebellar vermis hypoplasia OMIM:618571
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Microcephaly OMIM:234050
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Hypertelorism, Short neck ORPHA:163649
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Otodental Syndrome
Delayed eruption of teeth, Lens coloboma, Retinal coloboma, Microphthalmia, Iris coloboma ORPHA:2791
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Lis... ORPHA:63259
Acrocallosal Syndrome
Persistence of primary teeth, Hypertelorism, Aplasia/Hypoplasia of the corpus callosum, Coloboma,... OMIM:200990
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Hypertelorism ORPHA:1135
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Simplified gyral pattern, Microcephaly OMIM:152950
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Hypertelorism, Retinal coloboma, Microphthalmia, Spina bifida occulta, Iri... OMIM:607323
Galloway-Mowat Syndrome 3
Microcephaly, Hypertelorism, Simplified gyral pattern, Cerebral atrophy, Deeply set eye, Lissence... OMIM:617729
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Mend Syndrome
Thickened nuchal skin fold, Hypertelorism, Long neck, Hydrocephalus, Hypoplasia of the corpus cal... ORPHA:401973
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal pons morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Cerebellar... ORPHA:370997
Oculoauricular Syndrome
Phthisis bulbi, Macular hypoplasia, Retinal coloboma, Chorioretinal coloboma, Microphakia, Microp... OMIM:612109
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
17Q12 Microduplication Syndrome
Microphthalmia, Deeply set eye, Cortical dysplasia ORPHA:261272
Warburg Micro Syndrome 3
Microcephaly, Secondary microcephaly, Hypoplasia of the corpus callosum, Microphthalmia, Polymicr... OMIM:614222
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Natal tooth, Intrauterine growth retardation, Hypotelorism OMIM:616395
Fryns Syndrome
Thickened nuchal skin fold, Short neck, Hypertelorism, Microphthalmia, Agenesis of corpus callosu... ORPHA:2059
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Umbilical hernia, Bilateral microphthalmos, Hypertelorism, Short neck ORPHA:369891
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Skin Creases, Congenital Symmetric Circumferential, 1
Hypertelorism, Microcephaly, Short neck, Hypoplasia of the corpus callosum, Microphthalmia, Dandy... OMIM:156610
Fanconi Anemia, Complementation Group S
Microphthalmia, Hypertelorism, Microcephaly OMIM:617883
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Lateral ventricle dilatation, Agenesis of corpus callosum, Delayed eruption of pr... OMIM:300952
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcephaly, Hypertelorism, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of the co... ORPHA:464738
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, Hypertelorism, Optic disc coloboma, Proptosis, Holoprosence... ORPHA:141099
Braddock-Carey Syndrome 2
Microphthalmia, Microcephaly OMIM:619981
Joubert Syndrome 38
Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia OMIM:619476
Anterior Segment Dysgenesis 2
Coloboma, Anterior segment of eye aplasia, Aniridia, Microphthalmia, Congenital aphakia OMIM:610256
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Microphtha... ORPHA:231736
Microphthalmia, Syndromic 5
Microphthalmia, Coloboma, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Rubinstein-Taybi Syndrome 1
Spina bifida, Microcephaly, Hypertelorism, Low posterior hairline, Coloboma, Deeply set eye, Prop... OMIM:180849
Mosaic Variegated Aneuploidy Syndrome
Microcephaly, Increased nuchal translucency, Aplasia/Hypoplasia of the corpus callosum, Holoprose... ORPHA:1052
Seckel Syndrome 2
Microphthalmia, Cerebellar hypoplasia, Microcephaly OMIM:606744
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Short neck ORPHA:3191
Steinfeld Syndrome
Microphthalmia, Iris coloboma, Retinal coloboma, Holoprosencephaly OMIM:184705
Focal Dermal Hypoplasia
Spina bifida, Hypoplasia of the iris, Chorioretinal coloboma, Microphthalmia, Umbilical hernia, I... ORPHA:2092
Roberts-Sc Phocomelia Syndrome
Microcephaly, Short neck, Hypertelorism, Hydrocephalus, Frontal encephalocele, Coloboma, Stillbir... OMIM:268300
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Orofaciodigital Syndrome Vi
Molar tooth sign on MRI, Occipital meningocele, Cerebellar vermis hypoplasia OMIM:277170
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Hypertelorism, Microcephaly, Deeply set eye, Macrocephaly, Microphthalmia OMIM:620098
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia, Iris coloboma, Hypertelorism OMIM:229400
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microcephaly, Deeply set eye, Severe intrauterine growth retardation, Hypoplasia of the corpus ca... OMIM:241410
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Torticollis, Microcephaly, Hypertelorism, Hydrocephalus, Coloboma, Deeply set eye, Proptosis, Cho... OMIM:619475
Galloway-Mowat Syndrome 1
Microcephaly, Hypertelorism, Cerebral atrophy, Hypoplasia of the iris, Hypoplasia of the brainste... OMIM:251300
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia, Hypertelorism, Iris coloboma, Macular coloboma OMIM:615145
Adams-Oliver Syndrome 1
Encephalocele, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Microphthalmi... OMIM:100300
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Hypertelorism, Optic disc coloboma, Coloboma, Chorioretinal coloboma, Micr... ORPHA:959
Fanconi Anemia, Complementation Group J
Microphthalmia, Intrauterine growth retardation OMIM:609054
Semilobar Holoprosencephaly
Microcephaly, Hydrocephalus, Hypotelorism, Neural tube defect, Macrocephaly, Cyclopia, Agenesis o... ORPHA:220386
Alobar Holoprosencephaly
Microcephaly, Hydrocephalus, Hypotelorism, Neural tube defect, Macrocephaly, Cyclopia, Agenesis o... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Microcephaly, Hydrocephalus, Hypotelorism, Neural tube defect, Macrocephaly, Cyclopia, Agenesis o... ORPHA:93926
Lobar Holoprosencephaly
Microcephaly, Hydrocephalus, Hypotelorism, Neural tube defect, Macrocephaly, Cyclopia, Agenesis o... ORPHA:93924
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Umbilical hernia, Microcephaly ORPHA:2505
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Cerebral edema ORPHA:88619
Kabuki Syndrome
Coloboma, Hydrocephalus, Cerebral cortical atrophy, Microcephaly ORPHA:2322
Microphthalmia, Isolated 8
Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthalmia OMIM:615113
Myoclonic-Astatic Epilepsy
Microphthalmia, Microcephaly ORPHA:1942
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Retinal coloboma ORPHA:363741
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI OMIM:617563
Branchio-Oculo-Facial Syndrome
Coloboma, Iris coloboma, Intrauterine growth retardation ORPHA:1297
Frontonasal Dysplasia 3
Microphthalmia, Hypertelorism OMIM:613456
Aicardi Syndrome
Microcephaly, Partial agenesis of the corpus callosum, Optic disc coloboma, Chorioretinal colobom... ORPHA:50
Momo Syndrome
Delayed eruption of teeth, Hypertelorism, Short neck, Bilateral microphthalmos, Chorioretinal col... ORPHA:2563
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... ORPHA:85450
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Cerebellar hypoplasia OMIM:618805
Charge Syndrome
Anophthalmia, Microcephaly, Hypertelorism, Unilateral microphthalmos, Coloboma, Retinal coloboma,... OMIM:214800
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Short stature, Small for gestational age, Crypt... OMIM:227650
Fetal Alcohol Syndrome
Microphthalmia, Intrauterine growth retardation, Biparietal narrowing, Microcephaly ORPHA:1915
Cockayne Syndrome B
Delayed eruption of primary teeth, Microcephaly, Basal ganglia calcification, Cerebral atrophy, H... OMIM:133540
Fanconi Anemia, Complementation Group C
Microphthalmia, Intrauterine growth retardation, Prolonged G2 phase of cell cycle, Microcephaly OMIM:227645
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Coloboma, Anophthalmia, Macrocephaly OMIM:615877
Pallister-Hall Syndrome
Natal tooth, Holoprosencephaly, Neonatal death, Microphthalmia, Intrauterine growth retardation OMIM:146510
Fontaine Progeroid Syndrome
Cerebellar vermis hypoplasia, Periventricular heterotopia, Microcephaly, Hypertelorism, Hydroceph... OMIM:612289
Yunis-Varon Syndrome
Redundant neck skin, Hypertelorism, Increased nuchal translucency, Hydrocephalus, Bilateral micro... ORPHA:3472
Fanconi Anemia, Complementation Group E
Microphthalmia, Prolonged G2 phase of cell cycle, Microcephaly OMIM:600901
Charge Syndrome
Delayed eruption of teeth, Anophthalmia, Microcephaly, Aqueductal stenosis, Hypertelorism, Holopr... ORPHA:138
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Microphthalmia, Iris coloboma ORPHA:2712
Monosomy 9P
Microcephaly, Short neck, Hypertelorism, Low posterior hairline, Webbed neck, Microphthalmia, Age... ORPHA:261112
Focal Dermal Hypoplasia
Delayed eruption of teeth, Anophthalmia, Microcephaly, Myelomeningocele, Hydrocephalus, Microphth... OMIM:305600
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia, Iris coloboma, Chorioretinal coloboma OMIM:212550
Cat Eye Syndrome
Hypertelorism, Umbilical hernia, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:115470
Incontinentia Pigmenti
Delayed eruption of teeth, Eosinophilia, Microphthalmia, Umbilical hernia, Spina bifida occulta, ... ORPHA:464
Trichothiodystrophy
Cerebral dysmyelination, Microcephaly, Hypertelorism, Partial agenesis of the corpus callosum, Bi... ORPHA:33364
Schimmelpenning-Feuerstein-Mims Syndrome
Coloboma, Hemimegalencephaly OMIM:163200
Cerebellofaciodental Syndrome
Hypoplasia of the pons, Hypoplasia of the midbrain, Cerebellar hypoplasia OMIM:616202
8Q21.11 Microdeletion Syndrome
Microphthalmia, Hypertelorism, Aplasia/Hypoplasia of the corpus callosum, Short neck ORPHA:284160
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Hypertelorism, Hypotelorism, Macrocephaly, Proptosis, Shallow orbits, ... OMIM:601812
Martsolf Syndrome 1
Microphthalmia, Microcephaly, Periventricular white matter hyperintensities, Low posterior hairline OMIM:212720
Fanconi Anemia
Spina bifida, Hypertelorism, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the iris, Proptos... ORPHA:84
Orofaciodigital Syndrome Type 6
Molar tooth sign on MRI, Cerebellar vermis hypoplasia ORPHA:2754
Histiocytoid Cardiomyopathy
Microphthalmia, Hydrocephalus, Agenesis of corpus callosum, Congenital aphakia ORPHA:137675
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Small for gestational age, Oligozoospermia, Gr... ORPHA:125
Marcus-Gunn Syndrome
Coloboma ORPHA:91412
Phace Syndrome
Optic nerve hypoplasia, Microcephaly, Lens coloboma, Cerebellar hypoplasia, Microphthalmia, Agene... ORPHA:42775
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Microcephaly, Unilateral microphthalmos, Macrocephaly, Polymicrogyria, Iris coloboma OMIM:618874
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Hypertelorism, Hypoplasia of the corpus callosum, Short neck OMIM:614230
Fryns Syndrome
Broad neck, Short neck, Hypertelorism, Hypoplasia of the optic tract, Stillbirth, Hypoplasia of o... OMIM:229850
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormal brainstem morphology ORPHA:2720
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Microcephaly, Aplasia/Hypoplasia of the corpus callosum,... ORPHA:2714
Wilson Disease
Ascites, Pedal edema, Edema, Face of the giant panda sign OMIM:277900
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Anophthalmia, Absent septum pellucidum, Abnormal cortical gyrati... ORPHA:2538
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Coloboma ORPHA:85167
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Hypertelorism, Iris coloboma, Microcephaly ORPHA:1236
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
22Q11.2 Deletion Syndrome
Spina bifida, Short neck, Microcephaly, Hypertelorism, Hydrocephalus, Meningocele, Occipital myel... ORPHA:567
Linear Nevus Sebaceus Syndrome
Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus callosum, Biparietal... ORPHA:2612
Fraser Syndrome 1
Encephalocele, Anophthalmia, Abnormal cortical gyration, Microcephaly, Hypertelorism, Myelomening... OMIM:219000
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ... OMIM:120200
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Deeply set eye, Microphthalmia OMIM:257850
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Hypotelorism OMIM:619053
Thauvin-Robinet-Faivre Syndrome
Hypertelorism, Coloboma, Deeply set eye, Retinal coloboma, Macrocephaly OMIM:617107
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Deeply set eye OMIM:305390
Cohen Syndrome
Microphthalmia, Intrauterine growth retardation, Iris coloboma, Microcephaly ORPHA:193
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system, Microcephaly OMIM:257910
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Deeply set eye OMIM:614526
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Intrauterine growth retardation, Microcephaly ORPHA:2728
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis OMIM:619479
Dubowitz Syndrome
Delayed eruption of teeth, Microcephaly, Hypoplasia of the iris, Microphthalmia, Iris coloboma, I... OMIM:223370
3P25.3 Microdeletion Syndrome
Microphthalmia, Cerebral white matter atrophy ORPHA:435638
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia, Iris coloboma OMIM:269400
Familial Exudative Vitreoretinopathy
Microphthalmia, Microcephaly ORPHA:891
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Intrauterine growth retardation, Microcephaly ORPHA:1352
Mowat-Wilson Syndrome
Delayed eruption of teeth, Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Hyperte... OMIM:235730
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Fraser Syndrome
Encephalocele, Anophthalmia, Hypertelorism, Microcephaly, Myelomeningocele, Microphthalmia, Umbil... ORPHA:2052
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar vermis hypoplasia, Holoprosencephaly, Cerebellar hypoplasia, ... OMIM:615948
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Dandy-Walker malformation, Short neck OMIM:302960
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Natal tooth, Abnormal lateral ventricle morphology, Hypertelorism, Coloboma, Secondary microcepha... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Natal tooth, Abnormal lateral ventricle morphology, Hypertelorism, Coloboma, Secondary microcepha... ORPHA:353277
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Absent septum pellucidum, Microcephaly, Hydrocephalus, Microphthalmia, Agenesis of ... ORPHA:2556
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Hypertelorism, Intrauterine growth retardation, Microcephaly ORPHA:364577
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos, Macrocephaly OMIM:615085
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Hypertelorism ORPHA:35173
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypertelorism, Aqueductal stenosis, Hydrocephalus, Frontotemporal cerebral atrophy, Coloboma, Dee... OMIM:619534
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Failure of eruption of permanent teeth, Hypoplasia of the olfactory bulb, Microphth... ORPHA:2250
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Coloboma, Hypertelorism OMIM:603457
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascular system, Microcep... OMIM:609049
Roberts Syndrome
Hypertelorism, Microcephaly, Short neck, Proptosis, Severe intrauterine growth retardation, Micro... ORPHA:3103
Incontinentia Pigmenti
Delayed eruption of teeth, Hypoplasia of the fovea, Eosinophilia, Microcephaly, Microphthalmia OMIM:308300
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Hypertelorism, Short neck, Low posterior hairline, Neonatal death, Microphthalmia OMIM:617925
3Q29 Microdeletion Syndrome
Microphthalmia, Macrocephaly, Microcephaly ORPHA:65286
Gangliocytoma
Abnormal cerebellum morphology, Abnormal brainstem morphology ORPHA:251937
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Anophthalmia, Remnants of the hyaloid vascular system, Persistence of ... OMIM:300166
Skin Creases, Congenital Symmetric Circumferential, 2
Hypertelorism, Microcephaly, Short neck, Hypoplasia of the corpus callosum, Microphthalmia, Broad... OMIM:616734
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Microcephaly OMIM:601675
Refsum Disease
Microphthalmia ORPHA:773
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Myhre Syndrome
Microcephaly, Hypertelorism, Short neck, Deeply set eye, Macrocephaly, Microphthalmia, Intrauteri... OMIM:139210
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Short neck, Hypertelorism, Neural tube defect, Proptosis, Hypoplasia o... ORPHA:798
Atelis Syndrome 2
Microphthalmia, Remnants of the hyaloid vascular system, Microcephaly OMIM:620185
Teebi-Shaltout Syndrome
Microphthalmia, Hypertelorism, Microcephaly OMIM:272950
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Fanconi Anemia, Complementation Group F
Microphthalmia, Intrauterine growth retardation, Microcephaly OMIM:603467
Renpenning Syndrome 1
Microphthalmia, Coloboma, Cerebral atrophy, Microcephaly OMIM:309500
Papillorenal Syndrome
Microphthalmia, Optic disc coloboma, Retinal coloboma OMIM:120330
Degcags Syndrome
Hypertelorism, Microcephaly, Hypotelorism, Low posterior hairline, Proptosis, Microphthalmia, Age... OMIM:619488
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Basal ganglia calcification, Microcephaly OMIM:610651
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Persistence of primary teeth OMIM:618727
Neuroocular Syndrome
Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Microcephaly, Lens coloboma, De... OMIM:619539
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Intrauterine growth retardation ORPHA:2470
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Hypertelorism ORPHA:2717
Microphthalmia With Limb Anomalies
Microphthalmia, Hydrocephalus, True anophthalmia ORPHA:1106
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Microphthalmia, Syndromic 6
Anophthalmia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Coloboma, Aplasia of the o... OMIM:607932
Rodrigues Blindness
Microphthalmia OMIM:268320
Lymphedema-Distichiasis Syndrome
Microphthalmia, Cystic hygroma, Webbed neck OMIM:153400
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Torticollis, Hypertelorism, Microcephaly, Short neck, Microphthalmia OMIM:609945
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Ohdo Syndrome, X-Linked
Microphthalmia, Hypertelorism OMIM:300895
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Phthisis bulbi, Buphthalmos, Microphthalmia, Iris coloboma OMIM:221900
Hallermann-Streiff Syndrome
Microphthalmia, Natal tooth, Cerebellar hypoplasia, Microcephaly ORPHA:2108
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Delayed eruption of teeth, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hyp... ORPHA:261537
Cockayne Syndrome
Cerebral calcification, Delayed eruption of primary teeth, Cerebral dysmyelination, Basal ganglia... ORPHA:191
Pallister-Hall Syndrome
Abnormal basal ganglia MRI signal intensity, Natal tooth, Hypertelorism, Holoprosencephaly, Cereb... ORPHA:672
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology ORPHA:293987
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Hypertelorism OMIM:248450
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia, Microcephaly OMIM:278730
Autosomal Dominant Kenny-Caffey Syndrome
Hypertelorism, Persistence of primary teeth, Basal ganglia calcification, Bilateral microphthalmo... ORPHA:93325
Bartsocas-Papas Syndrome 1
Microphthalmia, Hypertelorism, Intrauterine growth retardation, Short neck OMIM:263650
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Noonan Syndrome 1
Male infertility, Hypospadias, Short stature, Failure to thrive in infancy, Postnatal growth reta... OMIM:163950
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Microphthalmia, Hypertelorism OMIM:268400
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Schizencephaly, Hydrocephalus, Porencephalic cyst, Cortical dysplasia, Leukoencephalopathy, Hypop... OMIM:175780
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Natal tooth, Secondary microcephaly, Coloboma ORPHA:353281
Esophageal Atresia
Coloboma ORPHA:1199
Cockayne Syndrome Type 3
Cerebral white matter atrophy, Basal ganglia calcification, Deeply set eye, Microphthalmia, Subco... ORPHA:90324
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Diarrhea 10, Protein-Losing Enteropathy Type
Coloboma OMIM:618183
Tetraamelia Syndrome 1
Microphthalmia, Hydrocephalus OMIM:273395
Oculodentodigital Dysplasia
Microphthalmia, Basal ganglia calcification, Microcephaly, Abnormal cerebral white matter morphology OMIM:164200
Oculocerebrorenal Syndrome Of Lowe
Delayed eruption of teeth, Buphthalmos, Deeply set eye, Microphthalmia, Umbilical hernia ORPHA:534
Orofaciodigital Syndrome Type 14
Molar tooth sign on MRI, Dilated fourth ventricle, Dandy-Walker malformation ORPHA:434179
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cerebellar vermis hypoplasia, Large basal ganglia, Deeply set eye, Agenesis of corpus callosum, I... ORPHA:261552
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Hypertelorism, Intrauterine growth retardation, Microcephaly OMIM:608670
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Intrauterine growth retardation, Abnormal brainstem morphology, Polyhydramnios, Oligohydramnios ORPHA:464311
Cystinosis, Nephropathic
Male infertility, Short stature, Failure to thrive in infancy, Weight loss, Growth delay, Delayed... OMIM:219800
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microcephaly, Hypertelorism, Short neck, Hypotelorism, Deeply set eye, Microphthalmia OMIM:612474
Phace Association
Cerebellar hypoplasia, Microphthalmia, Optic nerve hypoplasia, Dandy-Walker malformation OMIM:606519
Mowat-Wilson Syndrome
Delayed eruption of teeth, Focal cortical dysplasia, Agenesis of cerebellar vermis, Cerebellar ve... ORPHA:2152
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Intrauterine growth retardation, Microcephaly OMIM:620005
Microphthalmia, Syndromic 9
Neonatal death, Intrauterine growth retardation, Anophthalmia, Bilateral microphthalmos OMIM:601186
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Abnormal brainstem morphology ORPHA:93256
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia, Microcephaly ORPHA:2526
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Hypertelorism OMIM:201180
Norrie Disease
Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Microcephaly, Hypotelori... ORPHA:649
Fraser Syndrome 2
Microphthalmia, Short neck OMIM:617666
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Cystic Fibrosis
Male infertility, Failure to thrive OMIM:219700
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Isolated Arrhinia
Microphthalmia, Hypertelorism ORPHA:1134
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Basal ganglia calcification, Macrocephaly OMIM:127000
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi, Microcephaly OMIM:259770
Proximal Renal Tubular Acidosis
Coloboma ORPHA:47159
Townes-Brocks Syndrome
Microphthalmia, Agenesis of corpus callosum, Iris coloboma, Chorioretinal coloboma ORPHA:857
Microphthalmia, Syndromic 1
Anophthalmia, Microcephaly, Optic disc coloboma, Ciliary body coloboma, Chorioretinal coloboma, W... OMIM:309800
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Lowe Oculocerebrorenal Syndrome
Microphthalmia, Periventricular cysts OMIM:309000
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 Ranbp1

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 Ranbp1.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Ranbp1 modulates morphogenesis of the craniofacial midline in mouse models of 22q11.2 deletion syndrome. Human molecular genetics (June 2023) Ranbp1  tm1a(KOMP)Wtsi PMC10244217
Critical reappraisal of mechanistic links of copy number variants to dimensional constructs of neuropsychiatric disorders in mouse models. Psychiatry and clinical neurosciences (March 2018) Ranbp1tm1b(KOMP)Wtsi 29369447

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Ranbp1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ranbp1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ranbp1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter