Gene Summary

Name:
RAN binding protein 1
Synonyms:
Htf9a

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 craniofacial morphology Ranbp1tm1b(KOMP)Wtsi HOM E15.5 0.00
abnormal placenta size Ranbp1tm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal forebrain morphology 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 embryo size Ranbp1tm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal hindbrain morphology Ranbp1tm1b(KOMP)Wtsi HOM E12.5 0.00
edema Ranbp1tm1b(KOMP)Wtsi HOM E15.5 0.00
abnormal midbrain 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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

Embryo LacZ

LacZ images wholemount

8 Images

Gross Morphology Embryo E14.5-E15.5

Images

2 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 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
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 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 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility ORPHA:98797
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
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
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
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 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
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, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
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 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
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
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
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 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
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 17
Male infertility OMIM:617214
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Deleted in azoospermia
Azoospermia OMIM:400003
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
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 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Ring Chromosome Y Syndrome
Streak ovary, Cryptorchidism, Abnormality of the female genitalia, Hypospadias, Male infertility,... ORPHA:261529
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Neural tube defect OMIM:615041
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Male infertility OMIM:620103
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Type II lissencephaly, Macrocephaly at birth, Coloboma, Hydrocephalus, M... ORPHA:324416
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocephalus, Frontal encephal... ORPHA:1528
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Morbid Obesity And Spermatogenic Failure
Infertility, Obesity, Azoospermia, Oligozoospermia OMIM:615703
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Young Syndrome
Azoospermia OMIM:279000
Craniotelencephalic Dysplasia
Absent septum pellucidum, Hypotelorism, Agenesis of corpus callosum, Cerebellar hypoplasia, Front... OMIM:218670
Spermatogenic Failure 14
Azoospermia, Male infertility, Round spermatid arrest OMIM:615842
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus ca... OMIM:613153
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
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 28
Non-obstructive azoospermia, Male infertility, Decreased testicular size OMIM:618086
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short stature, Obesity, Azoospermia, Hypergonadotropic hypogonadism ORPHA:2183
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Delayed menarche, Azoospermia, Decreased testicular size, Decreased female lib... ORPHA:52901
Baraitser-Winter Syndrome 2
Webbed neck, Secondary microcephaly, Microphthalmia, Agenesis of corpus callosum, Short neck, Col... OMIM:614583
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Microcephaly, Coloboma, Microphthalmia OMIM:274270
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Azoospermia, Primary amenorrhea, Infertility OMIM:229070
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus ca... OMIM:615249
Spermatogenic Failure 13
Azoospermia, Male infertility OMIM:615841
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Frontonasal Dysplasia 1
Cranium bifidum occultum, Anterior basal encephalocele, Pericallosal lipoma, Agenesis of corpus c... OMIM:136760
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short stature, Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Androgen Insensitivity, Partial
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... OMIM:312300
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Occipital encephalocele, Hypoplasia of the pons, Polymicrogyr... ORPHA:370959
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Proptosis, Hypoplasia of the pons, Cerebral atrophy, Intrauterine growth retardation, Periventric... OMIM:616171
Meckel Syndrome 13
Cerebellar hypoplasia, Occipital encephalocele, Molar tooth sign on MRI OMIM:617562
Lambert Syndrome
Intrauterine growth retardation, Aplasia/Hypoplasia of the cerebellum, Branchial anomaly ORPHA:1296
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Hypoplasia o... OMIM:615771
Microphthalmia/Coloboma 5
Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Microphthalmia, Holoprosencephaly... OMIM:611638
Oculocerebrocutaneous Syndrome
Anophthalmia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Orbital encephaloce... OMIM:164180
Joubert Syndrome 15
Coloboma, Exencephaly OMIM:614464
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... OMIM:228300
Premature Ovarian Failure 10
Decreased testicular size, Azoospermia, Hypoplasia of the ovary, Primary amenorrhea, Premature ov... OMIM:612885
Joubert Syndrome 16
Coloboma, Encephalocele, Dandy-Walker malformation, Hypertelorism OMIM:614465
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly... OMIM:616570
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea OMIM:602390
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Lissencephaly 8
Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Hypo... OMIM:617255
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Rhombencephalosynapsis, Ethmoidal encephalocele, Hypoplasia of the ... ORPHA:280195
Biemond Syndrome Type 2
Coloboma, Hydrocephalus, Microphthalmia ORPHA:141333
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Hartsfield Syndrome
Aplasia/Hypoplasia of the corpus callosum, Intrauterine growth retardation, Encephalocele, Hypert... ORPHA:2117
2Q24 Microdeletion Syndrome
Microphthalmia, Short neck, Coloboma, Hypertelorism ORPHA:1617
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Subcortical heterotopia, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Micr... OMIM:614643
Adrenal Hypoplasia, Congenital
Precocious puberty, Failure to thrive, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism... OMIM:300200
Coach Syndrome 2
Cerebellar vermis hypoplasia, Chorioretinal coloboma, Agenesis of corpus callosum, Coloboma, Hydr... OMIM:619111
Microphthalmia/Coloboma 4
Coloboma, Microphthalmia OMIM:251505
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Non-obstructive azoospermia, Azoospermia, Decreased testicular size, Eunuchoid... ORPHA:432
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Patent ductus arteriosus, Absent outer dynein arms OMIM:618300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Hydrocephalus, Cerebellar hypoplasia, Microphthalmia OMIM:614830
Joubert Syndrome 25
Cerebellar hypoplasia, Molar tooth sign on MRI OMIM:616781
Joubert Syndrome 14
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Encephalocele, Hypoplasia of the corpu... OMIM:614424
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am... OMIM:614837
Verheij Syndrome
Branchial cyst, Cerebral atrophy, Intrauterine growth retardation, Microcephaly, Short neck, Colo... OMIM:615583
Maternal Uniparental Disomy Of Chromosome X
Short stature, Azoospermia, Ambiguous genitalia, Gonadal tissue inappropriate for external genita... ORPHA:261519
Holoprosencephaly
Spinal dysraphism, Chorioretinal coloboma, Aplasia/Hypoplasia of the corpus callosum, Branchial a... ORPHA:2162
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia OMIM:616335
Adams-Oliver Syndrome 2
Lateral ventricle dilatation, Cerebral atrophy, Polymicrogyria, Cerebellar hypoplasia, Microcepha... OMIM:614219
Meckel Syndrome, Type 4
Agenesis of cerebellar vermis, Intrauterine growth retardation, Encephalocele, Hydrocephalus, Mol... OMIM:611134
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Coloboma, Holoprosencephaly, Anterior encephalocele, Absent septum pellucidum OMIM:601357
Gombo Syndrome
Microcephaly, Microphthalmia OMIM:233270
Ring Chromosome 21 Syndrome
Short stature, Amenorrhea, Azoospermia, Infertility ORPHA:1445
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polymicrogyria, Progressive macrocephaly, Hydrocephalus, Cavum septum pellucidum, Microphthalmia,... OMIM:602501
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male sexual dysfunction, Bifid scrotum, Bilateral cryptorchidism, Azoosperm... ORPHA:90797
Solitary Median Maxillary Central Incisor
Anophthalmia, Hypotelorism, Microcephaly, Coloboma, Microphthalmia, Cyclopia, Holoprosencephaly OMIM:147250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Focal cortical dysplasia, Hypoplasia of the brainstem, Hypoplasia o... OMIM:613155
46,Xx Sex Reversal 2
Small scrotum, Perineal hypospadias, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, Tru... OMIM:278850
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Primary amenorrhea, Micropenis OMIM:614897
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Intellectual Developmental Disorder, Autosomal Recessive 67
Microcephaly, Coloboma OMIM:618295
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology, Abnormal cerebellum morphology, Hydrocephalus, Cerebellar vermis h... ORPHA:1532
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Short stature, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Warburg Micro Syndrome 1
Cerebellar vermis hypoplasia, Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of co... OMIM:600118
Joubert Syndrome 4
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Thickened superior cerebell... OMIM:609583
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased testicular size, Azoospermia, Delayed puberty, Short stature, Hypergonadotropic hypogon... ORPHA:280679
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Leukoencephalopathy, Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Hypoplasia of... OMIM:615181
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Molar tooth sign on MRI OMIM:614120
Subependymal Nodular Heterotopia
Focal cortical dysplasia, Occipital encephalocele, Polymicrogyria, Myelomeningocele, Abnormality ... ORPHA:101030
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Hypo... OMIM:236670
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Meckel Syndrome, Type 8
Occipital encephalocele, Encephalocele, Anophthalmia, Microcephaly, Short neck, Microphthalmia OMIM:613885
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased testicular size, Azoospermia, Eunuchoid habitus, Cryptorchidism, Hypogon... OMIM:308700
Ritscher-Schinzel Syndrome 1
Intrauterine growth retardation, Low posterior hairline, Coloboma, Hydrocephalus, Hypertelorism, ... OMIM:220210
Joubert Syndrome 18
Agenesis of cerebellar vermis, Intrauterine growth retardation, Occipital encephalocele, Molar to... OMIM:614815
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Abnormal vagina morphology, Streak ovary, Abnormal labia morphology, Abnorm... ORPHA:251510
48,Xyyy Syndrome
Male hypogonadism, Azoospermia ORPHA:99329
Hydrolethalus
Absent septum pellucidum, Anophthalmia, Deeply set eye, Agenesis of corpus callosum, Hydrocephalu... ORPHA:2189
Pontocerebellar Hypoplasia, Type 11
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebella... OMIM:617695
Congenital Toxoplasmosis
Cerebral calcification, Intrauterine growth retardation, Microcephaly, Hydrocephalus, Microphthalmia ORPHA:858
Cofs Syndrome
Cerebral cortical atrophy, Cerebral calcification, Intrauterine growth retardation, Microcephaly,... ORPHA:1466
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased testicular size, External genital hy... ORPHA:99330
Meckel Syndrome, Type 10
Occipital encephalocele, Dilated fourth ventricle, Cerebellar hypoplasia, Molar tooth sign on MRI... OMIM:614175
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Oligozoospermia, Micropenis, Macroorchidism, Hypospadias... ORPHA:8
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Proptosis, Polymicrogyria, Encephalocele, Exencephaly, Abnormality of... ORPHA:2211
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Microphthalmia, Isolated 4
Coloboma, Microphthalmia OMIM:613094
Neurooculocardiogenitourinary Syndrome
Secondary microcephaly, Redundant neck skin, Coloboma, Microphthalmia, Hypertelorism OMIM:618652
48,Xxyy Syndrome
Decreased testicular size, Obesity, Azoospermia, Cryptorchidism, Infertility, Hypoplasia of penis... ORPHA:10
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Intrauterine growth retardation, Encephalocele, Agenesis of corpus callosum, Hypertelorism, Micro... ORPHA:228390
Joubert Syndrome 7
Brainstem dysplasia, Encephalocele, Molar tooth sign on MRI, Hypoplasia of the brainstem OMIM:611560
Pierpont Syndrome
Abnormal cortical gyration, Deeply set eye, Short neck, Primary microcephaly, Hypertelorism, Micr... ORPHA:487825
15Q24 Microdeletion Syndrome
Myelomeningocele, Microcephaly, Coloboma, Hypertelorism ORPHA:94065
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Microphthalmia, Absent septum pellucidum, Anophthalmi... ORPHA:899
X-Linked Mandibulofacial Dysostosis
Microcephaly, Webbed neck, Branchial anomaly ORPHA:1131
46,Xx Sex Reversal 1
Clitoral hypertrophy, Azoospermia, True hermaphroditism, Ovotestis, Bicornuate uterus, Hypospadia... OMIM:400045
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia, Growth delay OMIM:615234
Baraitser-Winter Syndrome 1
Chorioretinal coloboma, Microphthalmia, Agenesis of corpus callosum, Low posterior hairline, Micr... OMIM:243310
Meckel Syndrome, Type 2
Intrauterine growth retardation, Encephalocele, Microphthalmia, Cystic hygroma, Meningocele, Anen... OMIM:603194
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Joubert Syndrome 22
Agenesis of cerebellar vermis, Intrauterine growth retardation, Molar tooth sign on MRI OMIM:615665
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:617127
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Nanophthalmos 2
Microphthalmia OMIM:609549
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Bresek Syndrome
Intrauterine growth retardation, Neonatal death, Microcephaly, Hydrocephalus, Microphthalmia, Iri... ORPHA:85284
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Pseudotrisomy 13 Syndrome
Polymicrogyria, Encephalocele, Hypotelorism, Agenesis of corpus callosum, Cerebellar hypoplasia, ... OMIM:264480
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Microcephaly, Branchial cyst ORPHA:435938
Joubert Syndrome 30
Dandy-Walker malformation, Cerebellar atrophy, Superior cerebellar dysplasia, Molar tooth sign on... OMIM:617622
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Encephalocele, Agenesis of co... OMIM:253800
Joubert Syndrome 23
Dysplastic corpus callosum, Coloboma OMIM:616490
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Intrauterine growth retardation, Increased nuchal translucency, Branchial anomaly, Hypoplasia of ... ORPHA:453499
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Clitoral hypertrophy, Failure to thrive, Abnormal labia majora morphology, Decreased testicular s... ORPHA:90791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hypoplasia of the brainstem, Type II lissencephaly, Microphthalmia, Encephalocele, Agenesis of co... OMIM:613150
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Iris coloboma, Microphthalmia OMIM:610023
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Hypoplasia of the corpus callosum, Deeply set eye, Microcephaly, Short neck, Coloboma, Thick corp... ORPHA:464288
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Short neck, Hypertelorism, Agenesis of corpus callosum ORPHA:93267
Linear Skin Defects With Multiple Congenital Anomalies 2
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Microphthalmia, Hyp... OMIM:300887
Joubert Syndrome 9
Encephalocele, Molar tooth sign on MRI OMIM:612285
Branchiogenic-Deafness Syndrome
Branchial fistula, Branchial cyst OMIM:609166
Hemochromatosis, Type 1
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence OMIM:235200
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Postnatal growth retardation, Azoospermia, Decreased testicular size, Short stature, Hypergonadot... OMIM:300845
Facial Clefting, Oblique, 1
Coloboma, Microphthalmia OMIM:600251
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Branchial fistula, Optic disc coloboma, Deeply set eye, Low posterior hairline, Micr... ORPHA:261337
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Proptosis, Aplasia/Hypoplasia of the corpus callosum, Intrauterine growth reta... ORPHA:1908
Frontofacionasal Dysplasia
Encephalocele, Hypoplasia of olfactory tract, Hypoplasia of the corpus callosum, Hypertelorism, M... ORPHA:1791
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Microphthalmia, Hydrocephalus, Retinal coloboma OMIM:601794
Pierpont Syndrome
Deeply set eye, Microcephaly, Short neck, Microphthalmia, Hypertelorism OMIM:602342
Joubert Syndrome 32
Abnormal cerebellum morphology, Molar tooth sign on MRI OMIM:617757
Microphthalmia, Syndromic 13
Microcephaly, Iris coloboma, Chorioretinal coloboma, Microphthalmia OMIM:300915
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Cat-Eye Syndrome
Chorioretinal coloboma, Intrauterine growth retardation, Hypertelorism, Microphthalmia, Iris colo... ORPHA:195
Joubert Syndrome 6
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dilated fourth ventricle, Elongated su... OMIM:610688
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida, ... OMIM:207950
Temtamy Syndrome
Iris coloboma, Chorioretinal coloboma, Aplasia/Hypoplasia of the corpus callosum, Macrocephaly, M... ORPHA:1777
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Microphtha... OMIM:614833
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Holoprosencephaly, Iris... ORPHA:77298
Coach Syndrome 1
Cerebellar vermis hypoplasia, Occipital encephalocele, Encephalocele, Coloboma, Hypertelorism, Ap... OMIM:216360
Curry-Jones Syndrome
Iris coloboma, Polymicrogyria, Hemimegalencephaly, Agenesis of corpus callosum, Lipomyelomeningoc... OMIM:601707
Stromme Syndrome
Cerebellar vermis hypoplasia, Stillbirth, Agenesis of corpus callosum, Cerebellar hypoplasia, Mic... OMIM:243605
Monosomy 18P
Webbed neck, Low posterior hairline, Microcephaly, Short neck, Microphthalmia, Holoprosencephaly ORPHA:1598
Joubert Syndrome 10
Polyhydramnios, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:300804
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Umbilical hernia, Cerebellar hypoplasia, Microcephaly, Partial absence of cerebellar vermis, Colo... ORPHA:329224
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Increased nuchal translucency, Branchial anomaly, Hypoplasia of the corpus callosum, Agenesis of ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Increased nuchal translucency, Branchial anomaly, Hypoplasia of the corpus callosum, Agenesis of ... ORPHA:352665
Holoprosencephaly 7
Iris coloboma, Alobar holoprosencephaly, Semilobar holoprosencephaly, Bilateral microphthalmos, H... OMIM:610828
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Oculogastrointestinal Neurodevelopmental Syndrome
Microcephaly, Unilateral microphthalmos, Coloboma, Bilateral microphthalmos OMIM:619318
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Periventricular heterotopia, Hypoplasia of the corpus callosum, Mic... OMIM:614105
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Micropenis, Abnormal internal... ORPHA:1772
Kapur-Toriello Syndrome
Polymicrogyria, Retinal coloboma, Dysplastic corpus callosum, Short neck, Microphthalmia, Pachygy... ORPHA:2328
Microphthalmia/Coloboma 10
Iris coloboma, Anophthalmia, Chorioretinal coloboma, Microphthalmia OMIM:616428
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Basal ganglia calcification, Agenesis of corpus callosum, Cerebellar h... OMIM:214150
Alg3-Cdg
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Cerebral white matter atrophy, Microce... ORPHA:79321
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Bilateral microphthalmos, Diffuse cerebral atrophy, Microcephaly, C... ORPHA:77299
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Webbed neck, Lateral ventricle dilatation, Umbilical hernia, Hypoplasia of the corpus callosum, M... OMIM:618914
Congenital Disorder Of Glycosylation, Type Iq
Cerebellar vermis hypoplasia, Polymicrogyria, Coloboma, Microphthalmia, Hypertelorism OMIM:612379
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcephaly, Microphthalmia ORPHA:2528
Frontorhiny
Cranium bifidum occultum, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Pericallosal ... ORPHA:391474
Microcephaly-Micromelia Syndrome
Aplasia/Hypoplasia of the corpus callosum, Intrauterine growth retardation, Neonatal death, Micro... OMIM:251230
Microcephaly 20, Primary, Autosomal Recessive
Small cerebral cortex, Optic nerve hypoplasia, Intrauterine growth retardation, Hypoplasia of the... OMIM:617914
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Abnormal brainstem morphology, Dilated fourth ventricle, C... ORPHA:370022
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Pachygyria, Simplified gyr... OMIM:251270
Meckel Syndrome, Type 5
Anencephaly, Occipital encephalocele, Microphthalmia OMIM:611561
Blepharocheilodontic Syndrome 1
Neural tube defect, Hypertelorism OMIM:119580
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:614497
48,Xxxy Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Obesity, Azoospermia, Cryptorchidism, Inf... ORPHA:96263
Otodental Dysplasia
Coloboma, Delayed eruption of teeth OMIM:166750
Congenital Varicella Syndrome
Cerebral cortical atrophy, Intrauterine growth retardation, Microcephaly, Microphthalmia ORPHA:291
Temtamy Syndrome
Chorioretinal coloboma, Agenesis of corpus callosum, Hypertelorism, Microphthalmia, Thick corpus ... OMIM:218340
Joubert Syndrome 2
Dysgenesis of the cerebellar vermis, Hypoplasia of the brainstem, Brainstem dysplasia, Encephaloc... OMIM:608091
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Slc35A2-Cdg
Abnormal midbrain morphology, Cerebellar atrophy, Intrauterine growth retardation, Atrophy/Degene... ORPHA:356961
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Cerebral atrophy, Periventricular nodular heterotopia, Hypoplasia of the corpus callosum, Colobom... OMIM:618659
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Joubert Syndrome 35
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Molar tooth sign on MRI OMIM:618161
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebellar vermis hypoplasia, Polymicrogyria, Cerebral calcification, Hypoplasia of the corpus ca... OMIM:616538
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Occipital meningocele, Hydrocephalus, ... OMIM:616546
Branchiogenic Deafness Syndrome
Branchial fistula, Branchial cyst ORPHA:50815
Abruzzo-Erickson Syndrome
Coloboma OMIM:302905
49,Xxxxy Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Short statur... ORPHA:96264
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Encephalocele, Agenesis of corpus callosum, Deeply set eye, Microcepha... OMIM:619148
Mmep Syndrome
Microcephaly, Microphthalmia ORPHA:3434
Ring Chromosome 22 Syndrome
Azoospermia, Growth delay ORPHA:1446
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Intrauterine growth retardation, Hydrocephalus, Macrocephaly OMIM:300863
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Lymphedema OMIM:607131
Pelvis-Shoulder Dysplasia
Spina bifida occulta, Iris coloboma, Optic disc coloboma, Microphthalmia OMIM:169550
Microphthalmia With Brain And Digit Anomalies
Inferior cerebellar vermis hypoplasia, Chorioretinal coloboma, Anophthalmia, Agenesis of corpus c... ORPHA:139471
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Failure to thrive, Azoospermia, Cryptorchidism, Weight... ORPHA:361
Adult Krabbe Disease
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal pons morphology ORPHA:206448
Bloom Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Azoospermia, Cryptorchidism, Decre... OMIM:210900
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Molar tooth sign on MRI OMIM:608629
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Short stature, Hypoplas... ORPHA:251066
Holoprosencephaly-Postaxial Polydactyly Syndrome
Umbilical hernia, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Hypotelorism, Cerebel... ORPHA:2166
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Xeroderma Pigmentosum, Complementation Group G
Microcephaly, Microphthalmia OMIM:278780
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Treacher-Collins Syndrome
Branchial fistula, Encephalocele, Hypertelorism, Microphthalmia, Iris coloboma ORPHA:861
Xk Aprosencephaly Syndrome
Microcephaly, Hypotelorism, Microphthalmia ORPHA:3469
Marden-Walker Syndrome
Inferior cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Intrauterine growth retardati... OMIM:248700
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Iris coloboma, Chorioretinal coloboma, Microphthalmia OMIM:120433
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility OMIM:614874
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Monosomy 13Q14
Webbed neck, Intrauterine growth retardation, Hypoplasia of the corpus callosum, Microcephaly, Sh... ORPHA:1587
Joubert Syndrome 39
Cerebellar vermis hypoplasia, Occipital encephalocele, Molar tooth sign on MRI OMIM:619562
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Absent septum pellucidum, Agenesis of corpus callosum, Microceph... OMIM:609053
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Impotence, Aplasia/hypoplasia of the uterus, Non-obstructive azoospermia, Streak ovary, Cryptorch... ORPHA:2232
Abruzzo-Erickson Syndrome
Coloboma, Iris coloboma, Chorioretinal coloboma ORPHA:921
Curry-Jones Syndrome
Iris coloboma, Optic disc coloboma, Agenesis of corpus callosum, Microphthalmia, Hypertelorism ORPHA:1553
Nanophthalmos
Microphthalmia ORPHA:35612
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Azoospermia, Growth delay ORPHA:300298
Branchiootorenal Syndrome 1
Abnormal cerebral morphology, Branchial fistula, Branchial cyst OMIM:113650
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Joubert Syndrome 1
Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Hypoplasia of the brainstem, B... OMIM:213300
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebella... OMIM:613001
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Short neck, Coloboma, Hypertelorism OMIM:616789
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia, Microcephaly, Thin corpus callosum, Microphthalmia OMIM:619694
Chromosome 1Q41-Q42 Deletion Syndrome
Hypotelorism, Deeply set eye, Cerebellar hypoplasia, Microcephaly, Hypertelorism, Microphthalmia,... OMIM:612530
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Retinal coloboma, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Agenesis of co... ORPHA:508498
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... ORPHA:99429
Microphthalmia/Coloboma 3
Iris coloboma, Microphthalmia OMIM:610092
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Coloboma, Hypertelorism OMIM:167730
Chromosome 13Q14 Deletion Syndrome
Chorioretinal coloboma, Umbilical hernia, Absent septum pellucidum, Hypoplasia of the corpus call... OMIM:613884
Trisomy 18
Webbed neck, Iris coloboma, Aplasia/Hypoplasia of the corpus callosum, Intrauterine growth retard... ORPHA:3380
Aromatase Deficiency
Female infertility, Ambiguous genitalia, female, Obesity, Eunuchoid habitus, Cryptorchidism, Fema... ORPHA:91
1Q21.1 Microdeletion Syndrome
Intrauterine growth retardation, Agenesis of corpus callosum, Deeply set eye, Microcephaly, Hydro... ORPHA:250989
Jacobsen Syndrome
Chorioretinal coloboma, Intrauterine growth retardation, Microcephaly, Short neck, Macular hypopl... OMIM:147791
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal brainstem morphology, Abnormal cerebellum morphology ORPHA:255182
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Macrocephaly, Coloboma, Shallow orbits, Cavum septum pellucidum, Microphthalmia, Relative macroce... OMIM:617306
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Cerebellar vermis hypoplasia, Encephalocele, Molar tooth sign on MRI ORPHA:2318
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Lobar hol... ORPHA:468631
Aicardi Syndrome
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Optic disc coloboma, Polymicrogyria, ... OMIM:304050
Bloom Syndrome
Intrauterine growth retardation, Azoospermia, Severe postnatal growth retardation, Oligozoospermi... ORPHA:125
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Hypertelorism, Branchial anomaly, Deeply set eye ORPHA:466950
Joubert Syndrome With Renal Defect
Hydrocephalus, Cerebellar vermis hypoplasia, Encephalocele, Molar tooth sign on MRI ORPHA:220497
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Mosaic Trisomy 9
Webbed neck, Intrauterine growth retardation, Hypotelorism, Microcephaly, Short neck, Spina bifid... ORPHA:99776
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Trisomy 13
Intrauterine growth retardation, Anophthalmia, Hypotelorism, Deeply set eye, Aplasia/Hypoplasia o... ORPHA:3378
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Broad neck, Hypoplasia of the corpus callosum, Deeply set eye, Hype... OMIM:619185
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Cerebellar hypoplasia, Intrauterine growth retardation, Hydrocephalus, Microphthalmia ORPHA:163966
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Tetraamelia-Multiple Malformations Syndrome
Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Septo-optic dysplasia, Iris coloboma ORPHA:3301
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum, Lymphedema ORPHA:79279
Frontonasal Dysplasia 2
Cerebellar vermis hypoplasia, Intrauterine growth retardation, Encephalocele, Hypoplasia of the c... OMIM:613451
Cataract 9, Multiple Types
Iris coloboma, Microphthalmia OMIM:604219
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microcephaly, Coloboma, Microphthalmia, Hypertelorism ORPHA:2399
Bor Syndrome
Branchial cyst ORPHA:107
Pelvis-Shoulder Dysplasia
Hydranencephaly, Bilateral microphthalmos, Retinal coloboma, Hydrocephalus, Spina bifida, Iris co... ORPHA:2839
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Distal 22Q11.2 Microdeletion Syndrome
Microcephaly, Intrauterine growth retardation, Branchial fistula, Deeply set eye ORPHA:261330
Mycophenolate Mofetil Embryopathy
Chorioretinal coloboma, Agenesis of corpus callosum, Hydrocephalus, Hypertelorism, Microphthalmia... ORPHA:268249
Joubert Syndrome 8
Occipital encephalocele, Molar tooth sign on MRI OMIM:612291
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Stevenson-Carey Syndrome
Cerebellar hypoplasia, Coloboma, Hypoplasia of the corpus callosum, Microphthalmia OMIM:611961
Fanconi Anemia, Complementation Group R
Microcephaly, Hydrocephalus, Microphthalmia OMIM:617244
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Delayed puberty, Oligomenorrhea, Primary amenorrh... ORPHA:79239
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Cerebellar vermis hypoplasia, Cerebral atrophy, Polymicrogyria, Increased nuchal translucency, Hy... OMIM:618494
2Q31.1 Microdeletion Syndrome
Cerebral cortical atrophy, Proptosis, Optic disc coloboma, Microcephaly, Short neck, Coloboma, Hy... ORPHA:251014
Phakomatosis Pigmentokeratotica
Coloboma, Spina bifida ORPHA:2874
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Male hypogonadism, Precocious puberty in females, Failure to thrive, Bifi... ORPHA:90793
Joubert Syndrome With Ocular Defect
Hydrocephalus, Cerebellar vermis hypoplasia, Encephalocele, Molar tooth sign on MRI ORPHA:220493
Meckel Syndrome 14
Occipital encephalocele, Increased nuchal translucency, Short neck, Hypertelorism, Microphthalmia... OMIM:619879
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Iris coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:1473
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Hydrocephalus, Agenesis of cerebella... ORPHA:163961
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Neonatal death OMIM:615524
Duplication Of The Pituitary Gland
Polyhydramnios, Encephalocele, Abnormal midbrain morphology ORPHA:314621
Neu-Laxova Syndrome 1
Broad neck, Hydranencephaly, Proptosis, Stillbirth, Small placenta, Intrauterine growth retardati... OMIM:256520
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cerebellar vermis hypoplasia, Occipital encephalocele, Dysgenesis of the cerebellar vermis, Abnor... ORPHA:397715
Spondylo-Ocular Syndrome
Webbed neck, Low posterior hairline, Short neck, Aplasia/Hypoplasia of the lens, Microphthalmia, ... ORPHA:85194
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Cerebral cortical atrophy, Intrauterine growth retardation, Hyperintensity of cer... ORPHA:48431
Ring Chromosome 10 Syndrome
Microphthalmia, Intrauterine growth retardation, Short neck, Hypertelorism ORPHA:1438
Fanconi Anemia, Complementation Group G
Microcephaly, Microphthalmia OMIM:614082
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Isolated Posterior Meningocele
Hydromyelia, Chiari malformation, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital men... ORPHA:268810
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dilated fourth ventricle, Cerebellar h... OMIM:619306
Cousin Syndrome
Hydranencephaly, Deeply set eye, Short neck, Hydrocephalus, Macrocephaly, Microphthalmia, Hyperte... OMIM:260660
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Secondary microcephaly, Microphthalmia, Cerebellar hypoplasia, Neonatal death OMIM:613730
8Q24.3 Microdeletion Syndrome
Global brain atrophy, Branchial cyst, Bilateral microphthalmos, Retinal coloboma, Secondary micro... ORPHA:508488
H Syndrome
Hypogonadism, Decreased testicular size, Azoospermia, Amenorrhea, Delayed puberty, Micropenis, Sh... ORPHA:168569
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Polymicrogyria, Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of t... OMIM:253280
Oligomeganephronia
Branchial cyst, Optic disc coloboma ORPHA:2260
Holoprosencephaly 1
Alobar holoprosencephaly, Hypotelorism, Agenesis of corpus callosum, Cerebellar hypoplasia, Micro... OMIM:236100
Basal Cell Nevus Syndrome 1
Calcification of falx cerebri, Hypertelorism, Hydrocephalus, Spina bifida, Macrocephaly, Micropht... OMIM:109400
Holoprosencephaly 9
Abnormal cortical gyration, Alobar holoprosencephaly, Anophthalmia, Hypotelorism, Microcephaly, S... OMIM:610829
Adams-Oliver Syndrome
Periventricular leukomalacia, Encephalocele, Hydrocephalus, Microphthalmia, Porencephalic cyst ORPHA:974
Polymicrogyria Due To Tubb2B Mutation
Abnormal brainstem morphology, Cerebellar atrophy, Hypoplasia of the pons ORPHA:300573
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Coloboma, Hypopl... ORPHA:2334
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Witteveen-Kolk Syndrome
Branchial fistula, Intrauterine growth retardation, Hypoplasia of the corpus callosum, Deeply set... OMIM:613406
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Hypoplasia of the corpus callosum, Short neck, Primary microceph... OMIM:618804
Holoprosencephaly 2
Alobar holoprosencephaly, Semilobar holoprosencephaly, Proptosis, Chorioretinal coloboma, Hypotel... OMIM:157170
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypotelorism, Abnormality of neuronal migration, Microcephaly, Microphthalmia, Cyclopia, Holopros... ORPHA:3186
Developmental And Epileptic Encephalopathy 1
Microcephaly, Global brain atrophy, Microphthalmia OMIM:308350
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Microcephaly, Intrauterine growth retardation, Deeply set eye OMIM:610756
Kapur-Toriello Syndrome
Polymicrogyria, Retinal coloboma, Intrauterine growth retardation, Low posterior hairline, Short ... OMIM:244300
Japanese Encephalitis
Abnormal midbrain morphology, Abnormal substantia nigra morphology, Pulmonary edema, Cerebral ede... ORPHA:79139
Hydrolethalus Syndrome 1
Broad neck, Abnormal cortical gyration, Intrauterine growth retardation, Gray matter heterotopia,... OMIM:236680
Meckel Syndrome, Type 1
Webbed neck, Cerebral hypoplasia, Iris coloboma, Natal tooth, Occipital encephalocele, Intrauteri... OMIM:249000
Srd5A3-Cdg
Coloboma, Optic disc hypoplasia ORPHA:324737
Branchiooculofacial Syndrome
Retinal coloboma, Intrauterine growth retardation, Branchial anomaly, Anophthalmia, Low posterior... OMIM:113620
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Natal tooth, Branchial cyst, Optic disc coloboma, Intrauterine growth retardation, Hypertelorism,... OMIM:620186
Meckel Syndrome
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the... ORPHA:564
Cree Impaired Intellectual Development Syndrome
Webbed neck, Coloboma, Hypertelorism OMIM:606851
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum... OMIM:206900
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Deeply set eye, Microcephaly, Short neck, Coloboma, Macrocephaly, Relative macrocephaly ORPHA:251028
Charge Syndrome
Webbed neck, Delayed eruption of teeth, Chorioretinal coloboma, Umbilical hernia, Intrauterine gr... ORPHA:138
Basel-Vanagaite-Smirin-Yosef Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, C... OMIM:616449
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Inferior cerebellar vermis hypoplasia, Hypoplasia of the pons, Hypo... ORPHA:444072
Linear Skin Defects With Multiple Congenital Anomalies 1