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Gene: Vangl2 MGI:2135272

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal retina morphology Vangl2em1(IMPC)Mbp HET Early adult 1.33×10-06
kinked tail Vangl2Lp HET Early adult 3.56×10-13
decreased circulating cholesterol level Vangl2Lp HET Early adult 5.94×10-11
abnormal craniofacial morphology Vangl2em1(IMPC)Mbp HOM E15.5 0.00
persistence of hyaloid vascular system Vangl2em1(IMPC)Mbp HET Early adult 2.30×10-09
embryonic growth retardation Vangl2em1(IMPC)Mbp HOM E15.5 0.00
abnormal tail morphology Vangl2em1(IMPC)Mbp HOM E15.5 0.00
abnormal head shape Vangl2em1(IMPC)Mbp HOM E15.5 0.00
cleft palate Vangl2em1(IMPC)Mbp HOM E15.5 0.00
microphthalmia Vangl2em1(IMPC)Mbp HET E15.5 0.00
abnormal snout morphology Vangl2Lp HET Early adult 5.08×10-07
preweaning lethality, complete penetrance Vangl2em1(IMPC)Mbp HOM   Early adult 0.00
abnormal placenta morphology Vangl2em1(IMPC)Mbp HET E15.5 0.00
abnormal tail movements Vangl2Lp HET Early adult 3.71×10-06
exencephaly Vangl2em1(IMPC)Mbp HOM E15.5 0.00
decreased circulating phosphate level Vangl2em1(IMPC)Mbp HET Early adult 6.70×10-06
preweaning lethality, complete penetrance Vangl2Lp HOM   Early adult 0.00
abnormal placenta morphology Vangl2em1(IMPC)Mbp HOM E15.5 0.00
curly tail Vangl2Lp HET Early adult 4.80×10-07
increased circulating glucose level Vangl2Lp HET Early adult 9.36×10-05
decreased circulating HDL cholesterol level Vangl2Lp HET Early adult 2.88×10-05

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

39 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Gross Morphology Embryo E14.5-E15.5

Images

19 Images

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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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neural Tube Defects, Susceptibility To
Asymmetry of spinal facet joints, Absence of the sacrum, Myelomeningocele, Hydrocephalus, Spina b... OMIM:182940
Isolated Anencephaly
Intrauterine growth retardation, Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Isolated Exencephaly
Low-set ears, Depressed nasal bridge, Holoprosencephaly ORPHA:563612

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

Disease Similarity of
phenotypes		 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
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
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
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Spermatogenic Failure 20
Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
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 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 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
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 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
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 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 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 1
Cryptozoospermia, Oligozoospermia, Male infertility OMIM:258150
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 63
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:619689
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:612997
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 47
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Genitopalatocardiac Syndrome
Low-set ears, Right aortic arch, Ventricular septal defect, Double outlet right ventricle, Transp... OMIM:231060
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Spermatogenic Failure 40
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:620084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... OMIM:619585
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:301059
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility OMIM:619009
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Spermatogenic Failure 56
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:619515
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:619828
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Stargardt Disease 1
Macular degeneration, Bull's eye maculopathy, Retinitis pigmentosa inversa OMIM:248200
Spermatogenic Failure 84
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620409
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 65
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... OMIM:619712
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Fetal Akinesia Deformation Sequence 1
Thin ribs, Low-set ears, Hip contracture, Short neck, Elbow ankylosis, High palate, High, narrow ... OMIM:208150
Spermatogenic Failure 39
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... OMIM:618643
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Premature Ovarian Failure 13
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea OMIM:617442
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Short thorax, Camptodactyly of finger, Umbilical hernia, Low-set, posteriorly ... ORPHA:2311
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Pulmonary hypoplasia OMIM:615228
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Hyperprolactinemia
Oligomenorrhea, Female infertility, Menorrhagia OMIM:615555
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Isolated Klippel-Feil Syndrome
Hearing impairment, Abnormality of the vertebral column, Abnormal shoulder morphology, Abnormal c... ORPHA:2345
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Short thorax, Vertebral segmentation defect, Missing ribs, Short neck... ORPHA:1797
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility ORPHA:98797
Limb Body Wall Complex
Progressive congenital scoliosis, Cutaneous finger syndactyly, Encephalocele, Aplasia/hypoplasia ... ORPHA:2369
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Low-set ears, Platyspondyly, Narrow chest, Abnormal epiphysis morphology, Abnormal clavicle morph... ORPHA:93267
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Short thorax, Myelomeningocele, Abnormal odontoid process morphology, Bell-shape... OMIM:613686
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Drusen, Macular scar OMIM:615439
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Becker Nevus Syndrome
Pectus carinatum, Abnormal tibia morphology, Supernumerary ribs, Rib fusion, Pectus excavatum, Sp... ORPHA:64755
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Cerebrofaciothoracic Dysplasia
Cerebellar vermis hypoplasia, Narrow chest, Low-set, posteriorly rotated ears, Vertebral segmenta... ORPHA:1394
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Ophthalmoplegia, External, And Myopia
Ptosis, Spina bifida OMIM:311000
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Low-set ears, Abnormal pelvic girdle bone morphology, Abnormal s... ORPHA:1988
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Abnormal midbrain morphology, Hypoplasia of the pons, Anteriorly p... ORPHA:280195
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae OMIM:608681
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Umbilical hernia, Tetralo... OMIM:192430
Isochromosomy Yq
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Gonada... ORPHA:98798
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
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
Distal Duplication 14Q
Abnormal lung lobation ORPHA:1705
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Restrictive Dermopathy 1
Low-set ears, Natal tooth, Increased anterioposterior diameter of thorax, Neonatal death, Prematu... OMIM:275210
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Finger syndactyly, Delayed skeletal maturation, Premature birth, Radioulnar syn... ORPHA:3268
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Death in infancy, Kyphoscoliosis, Rib fusi... OMIM:277300
Diaphanospondylodysostosis
Enlarged thorax, Myelomeningocele, Absent or minimally ossified vertebral bodies, Missing ribs, S... ORPHA:66637
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Aicardi Syndrome
Cerebellar vermis hypoplasia, Block vertebrae, Optic atrophy, Chiari malformation, Lateral ventri... OMIM:304050
Basal Cell Nevus Syndrome 1
Hamartomatous stomach polyps, Short distal phalanx of the thumb, Vertebral wedging, Abnormal ster... OMIM:109400
Lethal Congenital Contracture Syndrome 9
Low-set ears, Axillary pterygium, Joint contracture of the hand, Congenital contracture, Intraute... OMIM:616503
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Premature Ovarian Failure 6
Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia... OMIM:612310
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Premature Ovarian Failure 22
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:620548
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Atrioventri... OMIM:613751
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development
Right aortic arch with mirror image branching OMIM:107500
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Skraban-Deardorff Syndrome
Recurrent otitis media, Right aortic arch, Ventricular septal defect OMIM:617616
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Right aortic arch, Hearing impairment, Dextrocardia OMIM:617577
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:245650
Fibrochondrogenesis 1
Thin ribs, Low-set ears, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad l... OMIM:228520
Spondylocostal Dysostosis 5
Pectus carinatum, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Short neck, Low back pai... OMIM:122600
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Pulmonary hypoplasia OMIM:618174
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
You-Hoover-Fong Syndrome
Double aortic arch, Coarctation of aorta, Hearing impairment, Vascular ring OMIM:616954
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
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Ventriculomegaly, Clinodactyly, Hearing impairment, Dysplastic corpus callosum, Abnormal cerebral... ORPHA:500166
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Neu-Laxova Syndrome 1
Low-set ears, Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Age... OMIM:256520
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Clinodactyly, Genu valgum, Agenes... ORPHA:166024
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Double outlet right ventricle, Dextrocardia OMIM:618254
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Congenital Disorder Of Glycosylation, Type Iig
Low-set ears, Small hand, Shallow acetabular fossae, Lateral ventricle dilatation, Short neck, Hi... OMIM:611209
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Chudley-Mccullough Syndrome
Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, ... OMIM:604213
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Uterus didelphys, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m... ORPHA:3411
Autosomal Recessive Multiple Pterygium Syndrome
Low-set ears, Limitation of joint mobility, Finger syndactyly, Hearing impairment, High palate, S... ORPHA:2990
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Axial Mesodermal Dysplasia Spectrum
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Premature birth, O... ORPHA:1834
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia OMIM:614096
Otopalatodigital Syndrome Type 2
Low-set ears, Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Carpal synostosi... ORPHA:90652
Restrictive Dermopathy
Thin ribs, Low-set ears, Natal tooth, Increased anterioposterior diameter of thorax, Large placen... ORPHA:1662
Aicardi Syndrome
Optic atrophy, Small hand, Block vertebrae, Optic disc coloboma, Butterfly vertebrae, Intestinal ... ORPHA:50
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs ORPHA:3346
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Low-set ears, Recurrent otitis media, Overlapping toe, Short neck, Sprengel anomaly, Beaking of v... OMIM:213980
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Hydrocephalus, Vascular ring, Ventricular septal defect OMIM:603387
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Boomerang Dysplasia
Narrow chest, Finger syndactyly, Abnormal tibia morphology, Abnormal femur morphology, Polyhydram... ORPHA:1263
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus arteriosus, Vasc... OMIM:601927
Multiple Pterygium Syndrome, Escobar Variant
Low-set ears, Intercrural pterygium, Exostosis of the external auditory canal, Dysplastic patella... OMIM:265000
Aarskog-Scott Syndrome
Genu recurvatum, Small hand, Finger syndactyly, Delayed eruption of teeth, Umbilical hernia, Cong... ORPHA:915
Bowen-Conradi Syndrome
Abnormal lung lobation ORPHA:1270
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... OMIM:184400
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Aortic valve stenosis, Abnor... ORPHA:2306
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Microphthalmia, Syndromic 12
Pulmonary hypoplasia OMIM:615524
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Retinal atrophy, Vitreous hemorrhage, Retinal detachment,... OMIM:312700
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Mesomelia-Synostoses Syndrome
Abnormal vertebral morphology, Metacarpal synostosis, Tarsometatarsal synostosis, Hearing impairm... OMIM:600383
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Vacterl/Vater Association
Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Preaxial hand polyd... ORPHA:887
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Gorlin Syndrome
Abnormal vertebral morphology, Vertebral wedging, Arachnodactyly, Rib fusion, Brachydactyly, Ante... ORPHA:377
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary hypoplasia OMIM:619003
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Delayed cranial suture cl... OMIM:175700
Melnick-Needles Syndrome
Craniofacial hyperostosis, Hearing impairment, Delayed cranial suture closure, Bowing of the long... ORPHA:2484
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def... OMIM:617205
Metatropic Dysplasia
Narrow chest, Scoliosis, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, ... ORPHA:2635
Poland Syndrome
Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, Hemivertebrae, Unilateral brac... OMIM:173800
Isolated Dandy-Walker Malformation
Prominent occiput, Encephalocele, Platybasia, Frontal bossing, Cleft palate ORPHA:217
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Low-set ears, Arteria lusoria, Unbalanced atrioventricular ca... OMIM:620294
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Ventriculomegaly, Microcephaly, Attention deficit hyperactiv... OMIM:618709
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Absent Eyebrows And Eyelashes With Impaired Intellectual Development
Encephalocele, Convex nasal ridge, Short nose OMIM:200130
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Inability to w... OMIM:620317
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration OMIM:618287
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs ORPHA:1548
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... OMIM:605670
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Lateral Meningocele Syndrome
Low-set ears, Short neck, High palate, Keloids, Inguinal hernia, Biconcave vertebral bodies, Chia... OMIM:130720
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Triploidy
Narrow chest, Finger syndactyly, Low-set, posteriorly rotated ears, Intestinal malrotation, Intra... ORPHA:3376
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,... OMIM:609052
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Low-set ears, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus... OMIM:617478
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Intestinal malrotation, Intrauterine growth retardation, Tibial bowing, Lower limb... ORPHA:3035
Phaver Syndrome
Low-set ears, Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Myelomeningocele... ORPHA:2876
Bardet-Biedl Syndrome 6
Vaginal atresia, External genital hypoplasia, Hypospadias OMIM:605231
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Short-Rib Thoracic Dysplasia 12
Low-set ears, Hypoplastic scapulae, Natal tooth, Neonatal death, Short neck, Short foot, Holopros... OMIM:269860
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Toe syndactyly, Spina bifida occulta at L5, Finger syndactyly, Syn... OMIM:102510
Kbg Syndrome
Bilateral conductive hearing impairment, Finger clinodactyly, Cervical ribs, Delayed skeletal mat... ORPHA:2332
Microcephaly 20, Primary, Autosomal Recessive
Small cerebral cortex, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Agenesis of cor... OMIM:617914
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Low-set ears, Joint contracture of the hand, Toe syndactyly, Shallow... OMIM:201000
Pseudotrisomy 13 Syndrome
Low-set ears, Postaxial foot polydactyly, 11 pairs of ribs, Median cleft palate, Encephalocele, A... OMIM:264480
Congenital Tracheomalacia
Abnormal pulmonary artery morphology, Tetralogy of Fallot, Abnormal heart morphology, Right aorti... ORPHA:95430
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Fibrochondrogenesis
Low-set ears, Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Abnormal... ORPHA:2021
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Low-set ears, Joint dislocation, Short finger, Intrauterine growth retardation, Increa... OMIM:312150
Exostoses, Multiple, Type Ii
Cervical myelopathy, Rib exostoses, Genu valgum, Protuberances at ends of long bones, Coxa vara, ... OMIM:133701
Exostoses, Multiple, Type I
Cervical myelopathy, Rib exostoses, Genu valgum, Protuberances at ends of long bones, Coxa vara, ... OMIM:133700
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Bicornuate uterus, Primary amenorrhea OMIM:191830
Isolated Hemihyperplasia
Myelomeningocele, Asymmetry of the thorax, Scoliosis ORPHA:2128
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Hypoplasia of the odontoid process, Hearing impairment, Genu valgum, Shor... OMIM:253000
Trisomy 1Q
Low-set ears, Abnormality of the outer ear, Toe syndactyly, Short thorax, Camptodactyly of finger... ORPHA:261344
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... OMIM:600791
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:600348
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia OMIM:253310
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Low-set ears, Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenome... OMIM:300845
Huntington Disease-Like 1
Cerebral cortical atrophy, Ventriculomegaly, Abnormal head movements, Abnormal shoulder morpholog... ORPHA:157941
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Aplasia/Hypoplasia involving the pelvis, Cryptorchidism, Agenesis of corpus callos... ORPHA:3301
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... ORPHA:2790
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Bell-shaped thorax, Encephalocele, Molar tooth sign on MRI, Flat acetab... OMIM:616300
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida, Abnormal lung lobation ORPHA:945
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Low-set ears, Foot oligodactyly, Anterior encephalocele, Bilateral cleft palate, Omphalocele, Hol... OMIM:601357
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Autosomal Dominant Spastic Ataxia Type 1
Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ataxia, Spastic ataxia,... ORPHA:251282
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Spermatogenic Failure 38
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... OMIM:618433
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Low-set ears, Joint dislocation, Short finger, Intrauterine growth retardation, Increa... OMIM:253290
Pseudodiastrophic Dysplasia
Platyspondyly, Elbow dislocation, Phalangeal dislocation, Omphalocele, Scoliosis ORPHA:85174
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia OMIM:616733
Gombo Syndrome
Microphthalmia OMIM:233270
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Pulmonary hypoplasia OMIM:616867
Craniofacial Microsomia 2
Bifid uvula, Microtia, first degree, Microtia, third degree, Microtia, second degree, Submucous c... OMIM:620444
Kagami-Ogata Syndrome
Thin ribs, Premature birth, Bell-shaped thorax, Diastasis recti, Inguinal hernia, Kyphoscoliosis,... OMIM:608149
Cleidocranial Dysplasia, Recessive Form
Severe short stature, Brachycephaly OMIM:216330
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation OMIM:620315
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Syringomyelia, Hydrocephalus,... OMIM:207950
Apert Syndrome
Optic atrophy, Bifid uvula, Broad thumb, Chiari malformation, Toe syndactyly, Finger syndactyly, ... ORPHA:87
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor... ORPHA:99050
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Low-set ears, Hearing impairment, Carpal synostosis, Cutaneous finger syndactyly, Hip contracture... OMIM:178110
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Conductive hearing impairment, Congenital diaphragmatic hernia, Se... ORPHA:261197
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Abnormal head movements, Chorea, Aggressive behavior, Hyperactivity, Ata... ORPHA:382
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Tapered toe, Lateral ventricle dilatation, Celiac disease, Sacral dimple, Clinodactyly of the 5th... ORPHA:544488
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Aplasia/Hypoplasia of the lungs ORPHA:2204
Neural Tube Defects, Susceptibility To
Asymmetry of spinal facet joints, Absence of the sacrum, Myelomeningocele, Hydrocephalus, Spina b... OMIM:182940
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Osteopathia Striata With Cranial Sclerosis
Low-set ears, Joint contracture of the hand, Natal tooth, Fibular aplasia, Arachnodactyly, High p... OMIM:300373
Premature Ovarian Failure 20
Female infertility, Secondary amenorrhea OMIM:619938
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Pectus carinatum, Low-set ears, Clinodactyly, Genu valgum, Inguinal hernia,... OMIM:607131
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Vertebral segmentation defect, Short long bone, Short thorax, Vertebral fusion,... OMIM:618845
Pontine Tegmental Cap Dysplasia
Ankle clonus, Rib fusion, Sensorineural hearing impairment, Pontine tegmental cap, Hemivertebrae,... OMIM:614688
Robinow Syndrome, Autosomal Recessive 1
Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, ... OMIM:268310
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus, Pulmonary hypoplasia OMIM:241800
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Constricted iliac wing, Hypoplasia of the odontoid process, Hearing impair... OMIM:253010
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Reticular pigmentary degenerat... ORPHA:75376
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Ritscher-Schinzel Syndrome 1
Low-set ears, Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular sep... OMIM:220210
Distal Duplication 15Q
Camptodactyly of finger, Joint stiffness, Intrauterine growth retardation, Arachnodactyly, Short ... ORPHA:1707
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Hearing impairment, Elbow dislocation, Bowing of the long bones, ... ORPHA:628
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... ORPHA:93315
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Femoral-Facial Syndrome
Low-set ears, Toe syndactyly, Encephalocele, Humeroradial synostosis, Limited elbow movement, Age... OMIM:134780
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia OMIM:617468
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Hearing... ORPHA:485
Nevus Comedonicus Syndrome
Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bif... ORPHA:64754
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Short hallux, Dislocated radial head, Hip dislocation... OMIM:311300
Ehlers-Danlos Syndrome, Classic-Like, 2
Cellulitis, Ventral hernia, Short neck, High palate, Hip dislocation, Macrotia, Osteopenia, Atypi... OMIM:618000
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Thoracic hemivertebrae, Abnormal thorax morphology, Fused thoracic vert... ORPHA:1445
Focal Dermal Hypoplasia
Low-set ears, Toe syndactyly, Finger syndactyly, Hearing impairment, Congenital diaphragmatic her... ORPHA:2092
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Low-set ears, Occipital encephalocele, Lateral ventricle dilatation, Twelfth rib hypoplasia, Bell... ORPHA:397715
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Cupped ear, Branchial fistula, Sensorineural hea... OMIM:602588
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Low-set ears, Large earlobe, Intestinal malrotation, Overlapping toe, Overlapping fingers, Chiari... OMIM:618316
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Klippel-Feil Syndrome 1, Autosomal Dominant
Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment, Cervical C2/... OMIM:118100
Caudal Duplication
Intestinal duplication, Myelomeningocele, Bifid sacrum, Vertebral segmentation defect, Spina bifi... ORPHA:1756
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Congenital Herpes Simplex Virus Infection
Intrauterine growth retardation, Hydranencephaly ORPHA:293
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Abnormal vestibular function, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Ventricu... OMIM:617992
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt... ORPHA:957
Vitamin K Antagonist Embryofetopathy
Choanal atresia, Depressed nasal bridge, Hearing impairment, Myelomeningocele, Intrauterine growt... ORPHA:1914
Atelosteogenesis, Type I
Low-set ears, Radial bowing, Elbow dislocation, Fibular aplasia, Bell-shaped thorax, Encephalocel... OMIM:108720
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Cleft palate, Short nose ORPHA:2015
Meckel Syndrome 12
Low-set ears, Cerebral hypoplasia, Agenesis of corpus callosum, Microcephaly, Vaginal atresia, Hy... OMIM:616258
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... OMIM:620356
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
Anophthalmia Plus Syndrome
Aplasia/Hypoplasia of the earlobes, Low-set, posteriorly rotated ears, Eyelid coloboma, Spina bif... ORPHA:1104
Kagami-Ogata Syndrome
Limitation of joint mobility, Thoracic hypoplasia, Premature birth, Bell-shaped thorax, Large pla... ORPHA:254519
Autosomal Recessive Robinow Syndrome
Broad thumb, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Hearing impairment, E... ORPHA:1507
Marshall-Smith Syndrome
Low-set ears, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Bilateral conductive ... OMIM:602535
Lethal Congenital Contracture Syndrome 10
Low-set ears, Narrow palate, Narrow chest, Stiff neck, Broad ribs, Overlapping fingers, Femoral b... OMIM:617022
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Recurrent otitis media, Protruding ear, Persistent left superior vena cava, ... ORPHA:3304
Developmental And Speech Delay Due To Sox5 Deficiency
Pectus carinatum, Optic atrophy, Narrow palate, Exaggerated median tongue furrow, Lumbar hyperlor... ORPHA:313892
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Death in infancy, Accelerated skeletal matur... ORPHA:1354
Benign Paroxysmal Torticollis Of Infancy
Vertigo, Abnormal head movements, Ataxia ORPHA:71518
Recombinant Chromosome 8 Syndrome
Low-set ears, Hearing impairment, Tetralogy of Fallot, Ventricular septal defect, Double outlet r... OMIM:179613
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Stxbp1-Related Encephalopathy
Inability to walk, Dysplastic corpus callosum, Cerebral white matter atrophy, Hyperactivity, Ataxia ORPHA:599373
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Inferior cerebellar vermis hypoplasia, Clinodactyly, ... ORPHA:96148
Hemihyperplasia, Isolated
Myelomeningocele, Scoliosis OMIM:235000
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Iris coloboma, Retinopathy, Aplasia/Hypoplasia of the fovea ORPHA:2611
Tetrasomy 15Q26
Low-set ears, Cupped ear, Hydrocephalus, Atrial septal defect, Hypoplastic aortic arch, Patent du... OMIM:614846
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Osteopenia, Pectus carinatum, Short iliac bones, Flattened proximal radial epiphys... OMIM:271530
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Optic atrophy, Narrow chest, Thoracic hypoplasia, Proximal femoral metaphyseal irr... OMIM:602271
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Ossification Of The Posterior Longitudinal Ligament Of Spine
Myelopathy, Abnormality of the vertebral column OMIM:602475
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis OMIM:601612
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... ORPHA:3384
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Lumbar hyperlordosis, Genu valgum, Intervert... OMIM:609223
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Cooper-Jabs Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Anteriorly placed anus, Ca... ORPHA:1488
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,... OMIM:269250
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Optic atrophy, Spastic gait, Hypoplasia of the corpus callosum OMIM:613162
Joubert Syndrome 18
Occipital encephalocele, Intrauterine growth retardation, Trident pelvis, Joint hypermobility, Bo... OMIM:614815
Acrodysplasia Scoliosis
Spina bifida occulta, Scoliosis, Brachydactyly, Vertebral segmentation defect ORPHA:2956
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Narrow pelvis bone, Stenosis of the external auditory canal, Femoral bowing, Humeroradial synosto... OMIM:207410
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Abnormal helix morphology, Short thumb, Preaxial hand polydactyly... ORPHA:1120
White Forelock With Malformations
Finger syndactyly, Delayed skeletal maturation, Low-set, posteriorly rotated ears, Clinodactyly o... ORPHA:2475
Bardet-Biedl Syndrome 12
Hypogonadism, Vaginal atresia, Hydrometrocolpos OMIM:615989
Mosaic Trisomy 1
Low-set ears, Toe syndactyly, Lateral ventricle dilatation, Broad 2nd toe, Congenital diaphragmat... ORPHA:1692
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persistent ... ORPHA:1457
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Low-set ears, Metaphyseal cupping of metacarpals, Platyspondyly, Abnormality of the ca... ORPHA:163966
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardiomegaly, Persistent left su... OMIM:620642
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Macroglossia, Thoracic hypoplasia, Umbilical hernia, Overlapping toe, Large placenta, Intrauterin... ORPHA:254528
Gillessen-Kaesbach-Nishimura Syndrome
Low-set ears, Thickened nuchal skin fold, Large fleshy ears, Oligohydramnios, Polyhydramnios, Con... OMIM:263210
Trisomy 18
Chiari malformation, Congenital diaphragmatic hernia, Hernia, Anal atresia, Holoprosencephaly, De... ORPHA:3380
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Low-set ears, Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Lateral clavicle hook, Horizon... OMIM:617895
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Kniest Dysplasia
Delayed epiphyseal ossification, Limitation of joint mobility, Recurrent otitis media, Hip contra... OMIM:156550
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Thanatophoric Dysplasia, Type I
5-minute APGAR score of 1, Neonatal death, Bowing of the long bones, Short neck, Breech presentat... OMIM:187600
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Ambiguous genitalia, male, Amb... ORPHA:753
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Prune belly, Preaxial hand polydactyly, Cervical ribs, Sprengel anomaly, Thoracolumbar scoliosis,... OMIM:601389
Donnai-Barrow Syndrome
Low-set ears, Hearing impairment, Umbilical hernia, Intestinal malrotation, Congenital diaphragma... OMIM:222448
Ovarian Dysgenesis 3
Female infertility, Aplasia of the ovary, Primary amenorrhea OMIM:614324
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Otopalatodigital Syndrome, Type Ii
Low-set ears, Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers... OMIM:304120
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Verheij Syndrome
Short 5th finger, Branchial cyst, Clinodactyly, Intrauterine growth retardation, Joint hypermobil... OMIM:615583
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Low-set ears, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Platyspondyly, ... OMIM:300863
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Lumbar hy... OMIM:609616
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Atresia of the external auditory canal, Natal tooth, ... OMIM:146510
Meckel Syndrome, Type 10
Bifid uvula, Postaxial foot polydactyly, Occipital encephalocele, Sacral dimple, Dilated fourth v... OMIM:614175
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Thick lower lip vermilion, Thick upper lip vermilion, Postnatal growth retardation, Brachycephaly... OMIM:309545
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Low-set ears, Abnormal clavicle morphology, Abnormal hip bone morphology, Short neck, Hyperlordos... ORPHA:2522
Heterotaxy, Visceral, 1, X-Linked
Low-set ears, Ventricular septal defect, Left superior vena cava draining to coronary sinus, Atri... OMIM:306955
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies