Gene Summary

VANGL planar cell polarity 2
skam17Jus Lpp1,  Lootl,  C530001F03Rik,  loop-tail,  strabismus,  ska17,  Ltap

IMPC Phenotype Summary

Not Significant
Not tested


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
curly tail Vangl2Lp HET Early adult 4.80×10-07
abnormal snout morphology Vangl2Lp HET Early adult 5.08×10-07
abnormal craniofacial morphology Vangl2em1(IMPC)Mbp HOM E15.5 0.00
kinked tail Vangl2Lp HET Early adult 3.56×10-13
abnormal retina morphology Vangl2em1(IMPC)Mbp HET Early adult 1.59×10-05
cleft palate Vangl2em1(IMPC)Mbp HOM E15.5 0.00
embryonic growth retardation Vangl2em1(IMPC)Mbp HOM E15.5 0.00
abnormal head shape Vangl2em1(IMPC)Mbp HOM E15.5 0.00
decreased circulating HDL cholesterol level Vangl2Lp HET Early adult 2.88×10-05
decreased circulating cholesterol level Vangl2Lp HET Early adult 5.94×10-11
abnormal tail movements Vangl2Lp HET Early adult 3.71×10-06
preweaning lethality, complete penetrance Vangl2em1(IMPC)Mbp HOM   Early adult 0.00
increased circulating glucose level Vangl2Lp HET Early adult 9.36×10-05
exencephaly Vangl2em1(IMPC)Mbp HOM E15.5 0.00
microphthalmia Vangl2em1(IMPC)Mbp HET E15.5 0.00
persistence of hyaloid vascular system Vangl2em1(IMPC)Mbp HET Early adult 1.67×10-08
abnormal placenta morphology Vangl2em1(IMPC)Mbp HET E15.5 0.00
abnormal tail morphology Vangl2em1(IMPC)Mbp HOM E15.5 0.00
decreased circulating phosphate level Vangl2em1(IMPC)Mbp HET Early adult 7.68×10-06
abnormal placenta morphology Vangl2em1(IMPC)Mbp HOM E15.5 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

Expression data not available

Associated Images

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

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

Gross Morphology Embryo E14.5-E15.5


19 Images


XRay Images Whole Body Dorso Ventral

39 Images


XRay Images Whole Body Lateral Orientation

13 Images

Human diseases caused by Vangl2 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.

The table below shows human diseases associated to Vangl2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Vangl2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... OMIM:619528
Spermatogenic Failure 50
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Spermatogenic Failure 17
Male infertility OMIM:617214
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Nanophthalmos 2
Microphthalmia OMIM:609549
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spermatogenic Failure 29
Non-obstructive azoospermia, Male infertility, Immotile sperm OMIM:618091
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility OMIM:617593
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
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 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 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
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Genitopalatocardiac Syndrome
Ventricular septal defect, Right aortic arch, Transposition of the great arteries, Low-set ears, ... OMIM:231060
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:615081
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... OMIM:301099
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility ORPHA:98797
Fetal Akinesia Deformation Sequence 1
Elbow contracture, Polyhydramnios, Short neck, Fetal akinesia sequence, High, narrow palate, Cong... OMIM:208150
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... OMIM:301059
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Premature Ovarian Failure 13
Hypoplasia of the uterus, Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Low-set, posteriorly rotated ears, Abnormal in... ORPHA:2311
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Isolated Klippel-Feil Syndrome
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft palate, Abno... ORPHA:2345
Autosomal Dominant Spondylocostal Dysostosis
Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Spermatogenic Failure 42
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Limb Body Wall Complex
Congenital diaphragmatic hernia, Amniotic constriction ring, Cutaneous finger syndactyly, Aplasia... ORPHA:2369
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Pulmonary hypoplasia OMIM:615228
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb,... ORPHA:93267
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerar... ORPHA:64755
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Anal stenosis, Abnormal odontoid process morphology, Block vertebrae, Missing r... OMIM:613686
Ophthalmoplegia, External, And Myopia
Spina bifida, Ptosis OMIM:311000
Femoral-Facial Syndrome
Inguinal hernia, Short femur, Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Co... ORPHA:1988
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Hypoplasia of the pons, Abnormal rib morphology, Anteriorly placed ... ORPHA:280195
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Cerebrofaciothoracic Dysplasia
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Polyhydramnios, Short neck, Rib ... ORPHA:1394
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Isochromosomy Yq
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Velocardiofacial Syndrome
Ventricular septal defect, Abnormality of the ear, Interrupted aortic arch, Pulmonary artery atre... OMIM:192430
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Restrictive Dermopathy 1
Spontaneous chorioamniotic separation, Polyhydramnios, Flexion contracture, Premature rupture of ... OMIM:275210
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol... OMIM:277300
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Premature birth, Delayed skeletal maturation, Abnormality of the elbow, Abnorm... ORPHA:3268
Missing ribs, Short neck, Myelomeningocele, Short thorax, Cleft palate, Narrow pelvis bone, Enlar... ORPHA:66637
Aicardi Syndrome
Cerebellar vermis hypoplasia, Block vertebrae, Spina bifida, Missing ribs, Proximal placement of ... OMIM:304050
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Lethal Congenital Contracture Syndrome 9
Thoracic kyphoscoliosis, Decreased fetal movement, Elbow extension contracture, Polyhydramnios, A... OMIM:616503
Basal Cell Nevus Syndrome 1
Short distal phalanx of the thumb, Vertebral fusion, Down-sloping shoulders, Spina bifida, Kyphos... OMIM:109400
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration OMIM:618287
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Dextrocardia, Hearing impairment, Situs inversus totalis OMIM:617577
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Fibrochondrogenesis 1
Short neck, Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th fi... OMIM:228520
You-Hoover-Fong Syndrome
Coarctation of aorta, Hearing impairment, Double aortic arch, Vascular ring OMIM:616954
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Skraban-Deardorff Syndrome
Right aortic arch, Recurrent otitis media, Ventricular septal defect OMIM:617616
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... ORPHA:500166
Neu-Laxova Syndrome 1
Polyhydramnios, Short neck, Fetal akinesia sequence, Calcaneovalgus deformity, Neonatal death, Pt... OMIM:256520
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Enlarged joints, Pectus excavatum, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndac... ORPHA:166024
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Pulmonary hypoplasia OMIM:618174
Aicardi Syndrome
Intestinal polyposis, Block vertebrae, Missing ribs, Hiatus hernia, Malabsorption, Partial agenes... ORPHA:50
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Abnormality of the knee, Premature birth, Congenital diaphragmatic hernia, Missing r... ORPHA:1834
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Glossoptosis, Narrow chest, Short palm, Abnormal vertebral segmentation and... ORPHA:90652
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplasia of... OMIM:604213
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... ORPHA:3411
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... OMIM:614779
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Cerebellar vermis hypoplasia, Short neck, Glossoptosis, Vertebral... OMIM:611209
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Restrictive Dermopathy
Osteopenia, Multiple joint contractures, Premature delivery because of cervical insufficiency or ... ORPHA:1662
Autosomal Recessive Multiple Pterygium Syndrome
Multiple pterygia, Symphalangism affecting the phalanges of the hand, Abnormal sternum morphology... ORPHA:2990
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Boomerang Dysplasia
Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae,... ORPHA:1263
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Polyhydramnios, Short neck, Hemivertebrae, High palate, ... OMIM:213980
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Vascular ring OMIM:603387
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Hearing impairment ORPHA:1705
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Hy... OMIM:265000
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:245650
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... OMIM:601927
Aarskog-Scott Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Delayed eruption of teeth, Inguinal hernia,... ORPHA:915
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia OMIM:614096
Vacterl/Vater Association
Low-set, posteriorly rotated ears, Occipital encephalocele, Finger syndactyly, Abnormal intervert... ORPHA:887
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Mesomelia-Synostoses Syndrome
Progressive forearm bowing, Hearing impairment, Polyhydramnios, Short metatarsal, Absent uvula, T... OMIM:600383
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... OMIM:616749
Melnick-Needles Syndrome
Narrow chest, Anisospondyly, Short thorax, Abnormal rib morphology, Cone-shaped epiphyses of the ... ORPHA:2484
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Double outlet right ventricle, Dextrocardia OMIM:618254
Metatropic Dysplasia
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Camptodactyly of fing... ORPHA:2635
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Hemivertebrae, Short r... OMIM:173800
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... OMIM:617205
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility OMIM:619949
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Ataxia, Reduced cerebral white matter volume, Inability to walk, Dysplastic corpus callosum, Unst... OMIM:620317
Isolated Dandy-Walker Malformation
Encephalocele, Frontal bossing, Cleft palate, Prominent occiput, Platybasia ORPHA:217
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Absent Eyebrows And Eyelashes With Mental Retardation
Encephalocele, Short nose, Convex nasal ridge OMIM:200130
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Microcephaly, Hydrocephalus, Cortical dysplasia, Attention deficit hyperactivity disorder... OMIM:618709
Microphthalmia, Syndromic 12
Pulmonary hypoplasia OMIM:615524
Abnormal lateral ventricle morphology ORPHA:324422
Low-set, posteriorly rotated ears, Finger syndactyly, Omphalocele, Intestinal malrotation, Polyhy... ORPHA:3376
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Interrup... OMIM:617478
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Hydroceph... ORPHA:2306
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Fetal akinesia sequence, Flexion contrac... OMIM:156530
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs ORPHA:3346
Phaver Syndrome
Ventricular septal defect, Posteriorly rotated ears, Conductive hearing impairment, Myelomeningoc... ORPHA:2876
Lateral Meningocele Syndrome
Short neck, Chiari type I malformation, High palate, Conductive hearing impairment, Vertebral fus... OMIM:130720
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Short-Rib Thoracic Dysplasia 12
Polyhydramnios, Bowing of the legs, Short neck, Lobulated tongue, Thoracic dysplasia, Narrow ches... OMIM:269860
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal m... ORPHA:3035
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Encephalocele, Omphalocele, Posteriorly rotated ears, Postaxial hand polydactyl... OMIM:264480
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Bardet-Biedl Syndrome 6
Vaginal atresia, Hypospadias, External genital hypoplasia OMIM:605231
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary hypoplasia OMIM:619003
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... OMIM:102510
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ... ORPHA:860
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Hypoplasia of... OMIM:617914
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Short neck, Hearing abnormality, Wide... ORPHA:2021
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, C... ORPHA:2332
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Short neck, High palate, Conductive hearing im... OMIM:201000
Trisomy 1Q
Omphalocele, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Polyhydramnios, Congenital ... ORPHA:261344
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Missing ribs, Cryptorchidism, Hydrocephalus, Optic atrophy, Abnormal rib m... ORPHA:3301
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Polyhydramnios, Fetal akinesia ... OMIM:312150
Isolated Hemihyperplasia
Myelomeningocele, Asymmetry of the thorax, Scoliosis ORPHA:2128
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Premature corona... OMIM:300845
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia, Primary amenorrhea OMIM:191830
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Exostoses, Multiple, Type Ii
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... OMIM:133701
Exostoses, Multiple, Type I
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... OMIM:133700
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... ORPHA:95430
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Huntington Disease-Like 1
Abnormal head movements, Restlessness, Chorea, Dysmetria, Gait ataxia, Bradykinesia, Abnormal sho... ORPHA:157941
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Se... ORPHA:2790
Omphalocele, Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Cleft palate, Holoprosencep... ORPHA:945
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
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... ORPHA:216694
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Bilateral cleft palate, Short femur, Anterior encephalocele, Foot oligodactyly, Holo... OMIM:601357
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Molar tooth s... OMIM:616300
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... OMIM:268310
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... OMIM:253000
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... ORPHA:231736
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnor... ORPHA:99050
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Polyhydramnios, Fetal akinesia ... OMIM:253290
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Long clavicles, Premature birth, Diastasis recti, Kyphoscoliosis, C... OMIM:608149
Pseudodiastrophic Dysplasia
Omphalocele, Phalangeal dislocation, Elbow dislocation, Platyspondyly, Scoliosis ORPHA:85174
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Gombo Syndrome
Microphthalmia OMIM:233270
Chiari Malformation Type Ii
Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia, Dyspha... OMIM:207950
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c... OMIM:178110
Apert Syndrome
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Es... ORPHA:87
Osteopathia Striata With Cranial Sclerosis
Polyhydramnios, Partial agenesis of the corpus callosum, Osteopathia striata, Craniofacial osteos... OMIM:300373
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju... ORPHA:382
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections ORPHA:1548
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Neural Tube Defects, Susceptibility To
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin... OMIM:182940
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Congenital diaphragmatic hernia, Pyloric stenosis, Sensorineural hearing impair... ORPHA:261197
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Inguinal hernia, Enlarged joints, Tapered finger, Pectus excavatum, Short n... OMIM:607131
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Hydrocephalus, Aortic valve stenosis, Hypoplastic left heart, Pulmonic... OMIM:220210
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Tricuspid Atresia
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... ORPHA:1209
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia OMIM:253310
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Inguinal hernia, Tapered toe, Polyhydramnios, Tapered finger, Celiac disease, Dysp... ORPHA:544488
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Spastic gait, Impaired vibration sensation in the lower limbs, Limb ataxia, Impai... ORPHA:251282
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Pontine Tegmental Cap Dysplasia
Facial palsy, Sensorineural hearing impairment, Rib fusion, Hemivertebrae, Ankle clonus, Scoliosi... OMIM:614688
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia OMIM:616733
Distal Duplication 15Q
Omphalocele, Arachnodactyly, Camptodactyly of finger, Short neck, Pectus excavatum, Joint stiffne... ORPHA:1707
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Femoral bowing, Conductive hearing impairment, Broad di... OMIM:311300
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Death in infancy, Short thorax, Short long bone, Vertebral segme... OMIM:618845
Caudal Duplication
Abnormal penis morphology, Spina bifida, Cryptorchidism, Myelomeningocele, Uterus didelphys, Spin... ORPHA:1756
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Protruding ear, Reduced bone mineral dens... ORPHA:93315
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Aorta Coarctation
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Branchiootic Syndrome 1
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the... OMIM:602588
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Abnormal thorax morphology, Small hand, Holoprosencephaly, ... ORPHA:1445
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Abnormal vestibular function, Ventricular septal defect, Sensorineural hearing impairment, Tetral... OMIM:617992
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Scoliosis, Spina bifida oc... ORPHA:64754
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Symphalangism affec... ORPHA:628
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Pulmonary hypoplasia OMIM:616867
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... OMIM:253010
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Abnormal dental enamel morphology, Sp... ORPHA:2092
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Omphalocele, Overlapping toe, Underfolded helix, Posteriorly rotated ears, Intestinal m... OMIM:618316
Brachyolmia Type 1, Hobaek Type
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... OMIM:271530
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Cerebellar vermis hypoplasia, Proximal femoral metaphyseal irregularity,... ORPHA:397715
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Pectus excavatum, Tr... ORPHA:957
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Short nose, Anteverted nares, Cleft palate ORPHA:2015
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Premature birth, Diastasis recti, Kyphoscoliosis, Coxa valga, Short... ORPHA:254519
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Lethal Congenital Contracture Syndrome 10
Omphalocele, Thoracic scoliosis, Overlapping fingers, Stiff neck, Short neck, Fetal akinesia sequ... OMIM:617022
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Knee disloc... OMIM:618000
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Congenital Herpes Simplex Virus Infection
Hydranencephaly, Intrauterine growth retardation ORPHA:293
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus, Pulmonary hypoplasia OMIM:241800
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Patent ductus arteriosus, Macrotia, Protruding ear, Recurrent otitis media, Pul... ORPHA:3304
Vitamin K Antagonist Embryofetopathy
Anteverted nares, Depressed nasal bridge, Choanal atresia, Myelomeningocele, Hydrocephalus, Macro... ORPHA:1914
Meckel Syndrome 12
Rocker bottom foot, Microcephaly, Hypoplasia of the uterus, Low-set ears, Agenesis of corpus call... OMIM:616258
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Spina bifida, Aplasia/Hypoplasia of the earlobes, Eyelid colob... ORPHA:1104
Distal Deletion 10Q
2-3 toe cutaneous syndactyly, Short metatarsal, Protruding ear, High palate, Clinodactyly of the ... ORPHA:96148
Atelosteogenesis, Type I
Polyhydramnios, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neon... OMIM:108720
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Vertigo, Ataxia ORPHA:71518
Autosomal Recessive Robinow Syndrome
Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Chro... ORPHA:1507
Hemihyperplasia, Isolated
Myelomeningocele, Scoliosis OMIM:235000
Stxbp1-Related Encephalopathy
Hyperactivity, Cerebral white matter atrophy, Ataxia, Inability to walk, Dysplastic corpus callosum ORPHA:599373
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Posteriorly rotated ears, Patent ductus arteriosus, Pulmonic stenosis,... OMIM:179613
Heart Defects-Limb Shortening Syndrome
Death in infancy, Accelerated skeletal maturation, Kyphosis, Abnormal rib morphology, Abnormal fo... ORPHA:1354
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Tetrasomy 15Q26
Patent ductus arteriosus, Hypoplastic aortic arch, Cupped ear, Hydrocephalus, Low-set ears, Atria... OMIM:614846
Linear Verrucous Nevus Syndrome
Retinopathy, Iris coloboma, Aplasia/Hypoplasia of the fovea, Hypophosphatemia ORPHA:2611
Klippel-Feil Syndrome 1, Autosomal Dominant
Mixed hearing impairment, Short neck, Sensorineural hearing impairment, Abnormal rib morphology, ... OMIM:118100
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal maturation, Distal w... OMIM:602535
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, Exaggerated median tongue furrow... ORPHA:313892
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia OMIM:617468
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Cooper-Jabs Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Proximal placement of thumb, Missing ... ORPHA:1488
Ossification Of The Posterior Longitudinal Ligament Of Spine
Myelopathy, Abnormality of the vertebral column OMIM:602475
White Forelock With Malformations
Low-set, posteriorly rotated ears, Finger syndactyly, Delayed skeletal maturation, Abnormal rib m... ORPHA:2475
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Glycosylphosphatidylinositol Biosynthesis Defect 17
Abnormal ear morphology, Aggressive behavior, Dysplastic corpus callosum, Primary microcephaly, C... OMIM:618010
Mosaic Trisomy 1
Thoracic scoliosis, Cerebellar vermis hypoplasia, Polyhydramnios, Congenital diaphragmatic hernia... ORPHA:1692
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Optic atrophy, Coxa vara, Platys... OMIM:602271
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcan... ORPHA:163966
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Tricuspid regurgitation, Proximal placement of thumb, Spina bifida, Abnormal th... ORPHA:1120
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Genu valgum, Pectu... OMIM:609223
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Optic atrophy, Spastic gait, Hypoplasia of the corpus callosum OMIM:613162
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Thickened nuchal skin fold, Posteriorly rotated ears, Polyhydramnios, Short neck, Co... OMIM:263210
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly ORPHA:2956
Trisomy 18
Congenital diaphragmatic hernia, Pointed helix, Holoprosencephaly, Hernia, Low-set, posteriorly r... ORPHA:3380
Joubert Syndrome 18
Joint laxity, Occipital encephalocele, Trident pelvis, Bowing of the long bones, Agenesis of cere... OMIM:614815
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Omphalocele, Inguinal hernia, Joint laxity, Overlapping toe, Diastasis recti, Polyhydra... ORPHA:254528
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Polyhydramnios, Short neck, Flexion contracture, Hemivertebrae, Tibial bowing, Narrow chest, Hypo... ORPHA:96334
Schneckenbecken Dysplasia
Polyhydramnios, Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Nonimmune hydro... OMIM:269250
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Abnormal pinna morphology, Arachnodactyly, Rocker bottom foot, Hydrocephalus, Ulnar bowing, Humer... OMIM:207410
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Omphalocele, Thoracolumbar scoliosis, Preaxial hand polydactyly, Cervical ribs, Sprengel anomaly,... OMIM:601389
Donnai-Barrow Syndrome
Omphalocele, Posteriorly rotated ears, Intestinal malrotation, Congenital diaphragmatic hernia, W... OMIM:222448
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Lateral clavicle hook, Hypop... OMIM:617895
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphysea... OMIM:300863
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Verheij Syndrome
Branchial cyst, Vertebral fusion, Joint laxity, Optic nerve hypoplasia, Short neck, Hip dislocati... OMIM:615583
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi... OMIM:304120
Meckel Syndrome, Type 10
Dilated fourth ventricle, Occipital encephalocele, Sacral dimple, Abnormal pinna morphology, Post... OMIM:614175
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Meacham Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct... OMIM:608978
Thanatophoric Dysplasia Type 2
Encephalocele, Hearing impairment, Polyhydramnios, Kyphosis, Hydrocephalus, Short thorax, Increas... ORPHA:93274
Bardet-Biedl Syndrome 12
Hypogonadism, Hydrometrocolpos, Vaginal atresia OMIM:615989
Ovarian Dysgenesis 3
Primary amenorrhea, Female infertility, Aplasia of the ovary OMIM:614324
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Short neck, Pectus excavatum, Hyperlordosis, Kyphosis, Abnormal rib... ORPHA:2522
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Sensorineural hearing impairm... ORPHA:2326
Kniest Dysplasia
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Conductiv... OMIM:156550
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Congenital hip dislocation, Polyhydramnios, Short neck, Accelerated skeletal... ORPHA:373
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemiver... OMIM:271520
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... OMIM:306955
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Pallister-Hall Syndrome
Hemivertebrae, Anteriorly placed anus, Holoprosencephaly, Neonatal death, Syndactyly, Mesoaxial f... OMIM:146510
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... ORPHA:753
Thanatophoric Dysplasia, Type I
Champagne cork sign, Polyhydramnios, Short neck, Femoral bowing, Narrow chest, Neonatal death, Sm... OMIM:187600
Partial Atrioventricular Septal Defect
Transient ischemic attack, Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventri... ORPHA:1330
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol... ORPHA:166011
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Aplasia/Hypoplasia of the lungs ORPHA:2204
Joubert Syndrome 36
Molar tooth sign on MRI, Sensorineural hearing impairment, Mesoaxial hand polydactyly, Pectus car... OMIM:618763
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Cervical kyphosis, Bowing of the legs, Short neck, Metaphyseal wideni... OMIM:255800
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal dental enamel morphology, Hydrocephalus, Abnormal rib morphology, Hemiverteb... ORPHA:2180
Double Outlet Right Ventricle
Ventricular septal defect, Abnormality of cartilage of external ear, Double outlet right ventricl... ORPHA:3426
Apert Syndrome
Delayed epiphyseal ossification, Cutaneous finger syndactyly, Chronic otitis media, Broad distal ... OMIM:101200
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, ... ORPHA:280
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Anteriorly placed anus, High palate, Conductive hear... OMIM:218600
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Masa Syndrome
Camptodactyly of finger, Gait disturbance, Clinodactyly of the 5th finger, Agenesis of corpus cal... ORPHA:2466
Waardenburg Syndrome Type 1
Ptosis, Telecanthus, White eyelashes, Aganglionic megacolon, White eyebrow, Spina bifida, Congeni... ORPHA:894
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Hypoplastic Left Heart Syndrome