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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
decreased circulating HDL cholesterol level Vangl2Lp HET   Early adult 2.88×10-05
persistence of hyaloid vascular system Vangl2em1(IMPC)Mbp HET Early adult 2.46×10-08
abnormal placenta morphology Vangl2em1(IMPC)Mbp HET E15.5 0.00
kinked tail Vangl2Lp HET Early adult 3.56×10-13
curly tail Vangl2Lp HET Early adult 4.80×10-07
abnormal placenta morphology Vangl2em1(IMPC)Mbp HOM E15.5 0.00
increased circulating glucose level Vangl2Lp HET Early adult 9.36×10-05
preweaning lethality, complete penetrance Vangl2em1(IMPC)Mbp HOM   Early adult 0.00
abnormal tail movements Vangl2Lp HET Early adult 3.71×10-06
decreased circulating cholesterol level Vangl2Lp HET   Early adult 5.94×10-11
abnormal snout morphology Vangl2Lp HET Early adult 5.08×10-07

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

39 Images

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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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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
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta, Absence of the sacrum, Asymme... OMIM:182940
Isolated Anencephaly
Congenital diaphragmatic hernia, Maternal diabetes, Omphalocele, Intrauterine growth retardation,... ORPHA:563609
Isolated Exencephaly
Low-set ears, Agenesis of corpus callosum, 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 Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Hymen, Imperforate
Amenorrhea, Hematocolpos, Imperforate hymen, Hydrocolpos OMIM:237100
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Rib fusion, Vertebral segmentation defect, Hemivertebrae, Spina bifida occulta,... OMIM:613686
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size OMIM:619689
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head OMIM:243060
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 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 46
Coiled sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagell... OMIM:619095
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... ORPHA:1646
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries, Lo... OMIM:231060
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Pulmonary hypoplasia OMIM:615228
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 64
Reduced progressive sperm motility, Abnormal sperm head morphology, Oligospermia, Male infertility OMIM:619696
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 17
Infertility OMIM:617214
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Immotile sperm, Male infertility, Abnormal sperm morphology OMIM:608653
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Vaginal Atresia
Bicornuate uterus, Imperforate hymen, Uterus didelphys, Primary amenorrhea, Cervicitis, Transvers... ORPHA:65681
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia OMIM:614096
Fetal Akinesia Deformation Sequence 1
High palate, Hydrocephalus, Elbow ankylosis, Cleft palate, Short neck, Small placenta, Rocker bot... OMIM:208150
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Hypoplasia of the uterus, Female infertility OMIM:617442
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Rib fusion, Kyphosis, Abnormal intervertebral disk morphology, Con... ORPHA:2311
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Posterior rib fusion, Scoliosis, Spina bifida occulta,... ORPHA:1797
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Isolated Klippel-Feil Syndrome
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Anal atresia, Ectopic anus, Cleft palate, Abno... ORPHA:2345
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... OMIM:606217
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia OMIM:274210
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphosis, Contracture of the proximal interphalangeal ... OMIM:609813
Limb Body Wall Complex
Hydrocephalus, Cleft palate, Aplasia of the proximal phalanges of the hand, Anencephaly, Broad ha... ORPHA:2369
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Dextrotr... OMIM:619702
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Short neck, Platyspondyly, Decreased skull ossificati... ORPHA:93267
Becker Nevus Syndrome
Rib fusion, Kyphosis, Pectus excavatum, Scoliosis, Spina bifida occulta, Pectus carinatum, Abnorm... ORPHA:64755
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of the... ORPHA:1988
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Abnormal pinna morphology, Hypoplastic left heart, Pulmonic stenos... OMIM:618164
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada... ORPHA:98798
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Cerebrofaciothoracic Dysplasia
Bifid ribs, Rib fusion, Sprengel anomaly, Narrow chest, Vertebral segmentation defect, Cleft pala... ORPHA:1394
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
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
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck OMIM:608681
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Septopreoptic Holoprosencephaly
Rhombencephalosynapsis, Hypoplasia of the pons, Ethmoidal encephalocele, Abnormal rib morphology,... ORPHA:280195
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Restrictive Dermopathy 1
Decreased calvarial ossification, Ankylosis, Spontaneous chorioamniotic separation, Rocker bottom... OMIM:275210
Velocardiofacial Syndrome
Abnormality of the ear, Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia, Ventri... OMIM:192430
Spermatogenic Failure 26
Acephalic spermatozoa, Infertility OMIM:617961
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... OMIM:277300
Ophthalmoplegia, External, And Myopia
Spina bifida, Ptosis OMIM:311000
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib ... ORPHA:3268
Hydrocephalus With Associated Malformations
Hydrocephalus, Pulmonary hypoplasia OMIM:236640
Aicardi Syndrome
Bifid ribs, Rib fusion, Lipoma, Hiatus hernia, Butterfly vertebrae, Cleft palate, Hemivertebrae, ... OMIM:304050
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... ORPHA:261529
Basal Cell Nevus Syndrome
Bifid ribs, Sprengel anomaly, Short distal phalanx of the thumb, Hydrocephalus, Abnormal sternum ... OMIM:109400
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary amenorr... OMIM:612310
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Hearing impairment, Right aortic arch OMIM:617577
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Mucocutaneous Ulceration, Chronic
Vaginal mucosal ulceration OMIM:618287
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Ciliary Dyskinesia, Primary, 40
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs inversus totalis, ... OMIM:618300
Mayer-Rokitansky-Kuster-Hauser Syndrome
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Spermatogenic Failure 21
Acephalic spermatozoa, Infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Infertility, Reduced sperm motility OMIM:617187
Fibrochondrogenesis 1
Abnormal pinna morphology, Cleft palate, Short neck, Platyspondyly, Omphalocele, Dumbbell-shaped ... OMIM:228520
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Cleft palate, Macrotia, Supernumerary ribs, Vertebral fusion OMIM:221950
Neu-Laxova Syndrome 1
Cleft palate, Short neck, Small placenta, Rocker bottom foot, Pterygium, Calcaneovalgus deformity... OMIM:256520
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Limb ataxia, Impaired vibration sensation in the lower limbs, Jerky head movements, B... ORPHA:251282
Asherman Syndrome
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... ORPHA:137686
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Hydrocephalus, Atrial septal defect, Vascular ring OMIM:603387
Diaphanospondylodysostosis
Myelomeningocele, Enlarged thorax, Cleft palate, Abnormal vertebral segmentation and fusion, Shor... ORPHA:66637
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Hematocolpos, Uterus didelphys, Partial vaginal septum OMIM:192050
Tuberculosis
Abnormal lung morphology ORPHA:3389
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Polymicrogyria, Par... OMIM:604213
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Posterior rib fusion, Scoliosis, Pectus carinatum... OMIM:122600
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Enlarged joints, Delayed epiphyseal ossification, Pectus excavatum, Spindle-shaped finger, Cutane... ORPHA:166024
Aicardi Syndrome
Bifid ribs, Rib fusion, Protruding ear, Butterfly vertebrae, Hiatus hernia, Malabsorption, Cleft ... ORPHA:50
Huntington Disease-Like 1
Abnormal basal ganglia morphology, Cerebral cortical atrophy, Clumsiness, Poor fine motor coordin... ORPHA:157941
Boomerang Dysplasia
Narrow chest, Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of... ORPHA:1263
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Lethal Congenital Contracture Syndrome 9
Adducted thumb, Short umbilical cord, Preeclampsia, Scoliosis, Ankylosis, Polyhydramnios, Low-set... OMIM:616503
Axial Mesodermal Dysplasia Spectrum
Vertebral segmentation defect, Anal atresia, Hydrocephalus, Congenital diaphragmatic hernia, Micr... ORPHA:1834
Restrictive Dermopathy
Multiple joint contractures, Osteopenia, Thoracic kyphoscoliosis, Small placenta, Microcolon, Int... ORPHA:1662
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Dysmenorrhea, Metrorrhagia, Uterus didelphys, Abnormal uterine cervix morphology, Pa... ORPHA:3411
Microphthalmia, Syndromic 12
Pulmonary hypoplasia OMIM:615524
Otopalatodigital Syndrome Type 2
Hydrocephalus, Abnormal pinna morphology, Cleft palate, Bowing of the long bones, Omphalocele, En... ORPHA:90652
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Hemivertebrae, Short neck, Sacral ... OMIM:213980
Distal Trisomy 14Q
Hearing impairment, Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Autosomal Recessive Multiple Pterygium Syndrome
High palate, Pectus excavatum, Cleft palate, Aplasia/Hypoplasia of the abdominal wall musculature... ORPHA:2990
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Aarskog-Scott Syndrome
Clinodactyly of the 5th finger, Pectus excavatum, Genu recurvatum, Inguinal hernia, Cleft palate,... ORPHA:915
Lateral Meningocele Syndrome
High palate, Conductive hearing impairment, Abnormality of the middle ear ossicles, Pectus excava... OMIM:130720
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Babinski sign, Hypoplasia of the corpus callosum, Spastic paraplegia,... OMIM:613162
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Multiple Pterygium Syndrome, Escobar Variant
High palate, Multiple joint contractures, Cleft palate, Down-sloping shoulders, Short neck, Ulnar... OMIM:265000
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Protruding ear, Microtia, Ventricular septal defect, Atresia of th... OMIM:147770
Sprengel Deformity
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... OMIM:184400
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:245650
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Hydrocephalu... ORPHA:2306
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Clinodactyly, Ventriculome... ORPHA:500166
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia, Hydrocephalus, Microcephaly, Cortical dysplasia, Ventriculomegaly, Abno... OMIM:618709
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619949
Vacterl/Vater Association
Vertebral segmentation defect, Intrauterine growth retardation, Anal atresia, Congenital diaphrag... ORPHA:887
Metatropic Dysplasia
Narrow chest, Kyphosis, Hydrocephalus, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Abn... ORPHA:2635
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... OMIM:601927
Poland Syndrome
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Hemivertebrae, Unilateral brac... OMIM:173800
Melnick-Needles Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Abnormality of the pubic bone, Delayed erupti... ORPHA:2484
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia, Recurrent otitis media OMIM:618254
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Aplasia/Hypoplasia of the cerebellar vermis, Abnormal rib morphology, Low-set ears... OMIM:300864
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... OMIM:617478
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... OMIM:616749
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... OMIM:156530
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... OMIM:609052
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Aphalangy With Hemivertebrae
Pulmonary hypoplasia OMIM:207620
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Intrauterine growth retardation, Pectus excavatum, Abnormal rib cage morphology, Hemivertebrae, P... OMIM:608406
Bardet-Biedl Syndrome 6
Vaginal atresia, Hypospadias, External genital hypoplasia OMIM:605231
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Fibrochondrogenesis
Narrow chest, Wide anterior fontanel, Cleft palate, Short ribs, Camptodactyly of finger, Short ne... ORPHA:2021
Pseudotrisomy 13 Syndrome
Low-set ears, Hydrocephalus, 2-3 toe syndactyly, Anal atresia, Holoprosencephaly, Hemivertebrae, ... OMIM:264480
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus, Pulmonary hypoplasia OMIM:241800
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs ORPHA:3346
Lissencephaly Type Iii And Bone Dysplasia
Pulmonary hypoplasia OMIM:601160
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Double aortic arch, Tetralogy of Fallot, Ventricular sept... ORPHA:95430
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Pectus excavatum, Radial deviation of the 2nd finger, Cleft palate, Femoral bowing... OMIM:304120
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Spina bifida occulta at L5, Spina bifida o... OMIM:102510
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Kbg Syndrome
Delayed skeletal maturation, Cleft palate, Cutaneous syndactyly, Short neck, Finger clinodactyly,... ORPHA:2332
Microphthalmia, Isolated, With Coloboma 7
Coloboma OMIM:614497
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Aqueductal stenosis, Abnormally ossified vertebrae, Intestinal malr... ORPHA:3035
Mesomelia-Synostoses Syndrome
Progressive forearm bowing, Short umbilical cord, Abnormal vertebral morphology, Short foot, Meta... OMIM:600383
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Abnormal pinna morphology, Short neck, Anencephaly, Lobulated tongue, Median cleft... OMIM:269860
Endosteal Hyperostosis, Worth Type
Sensorineural hearing impairment, Craniofacial hyperostosis, Clavicular sclerosis, Abnormal form ... ORPHA:2790
Central Neurocytoma
Ataxia, Hydrocephalus, Pain insensitivity, Cerebral calcification, Babinski sign, Tinnitus, Pares... ORPHA:73256
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Triploidy
Narrow chest, Hydrocephalus, Cleft palate, Holoprosencephaly, Macroglossia, Intestinal malrotatio... ORPHA:3376
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary hypoplasia OMIM:619003
Trisomy 1Q
Anal atresia, Hydrocephalus, Congenital diaphragmatic hernia, Cleft palate, Arachnodactyly, Campt... ORPHA:261344
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Primary amenorrhea, Bicornuate uterus OMIM:191830
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Joint dislocation, Flexion contracture, Thin ribs, Cleft palate, Abnormal cerv... OMIM:312150
Carpenter Syndrome 1
High palate, Abnormal pinna morphology, Aplasia/Hypoplasia of the middle phalanges of the toes, S... OMIM:201000
Phaver Syndrome
Myelomeningocele, Conductive hearing impairment, Overfolded helix, Coarctation of aorta, Pulmonar... ORPHA:2876
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Microtia, Abnormal rib morphology, Optic atrophy, Septo-optic dysplasia, Missing r... ORPHA:3301
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Male infertility, Abnormal sperm hea... OMIM:618433
Acalvaria
Hydrocephalus, Cleft palate, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Postaxial h... ORPHA:945
Exostoses, Multiple, Type Ii
Coxa vara, Scapular exostoses, Madelung-like forearm deformities, Rib exostoses, Genu valgum, Pro... OMIM:133701
Exostoses, Multiple, Type I
Coxa vara, Scapular exostoses, Madelung-like forearm deformities, Rib exostoses, Genu valgum, Pro... OMIM:133700
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pulmonary hypoplasia OMIM:224410
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Short femur, Scoliosis, Anterior encephalocele, Bilateral cleft lip and palate... OMIM:601357
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
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Prominent sternum, Platyspondyly, Genu valgum,... OMIM:253010
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Flexion contracture, Thin ribs, Cleft palate, Abnormal cerv... OMIM:253290
Congenitally Corrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... ORPHA:216694
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beaking of lumbar ... OMIM:253000
Robinow Syndrome, Autosomal Recessive 1
Pectus excavatum, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Duplication of the... OMIM:268310
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cleft palate, Lobulated tongue, Hypoplastic pelvis, Omphalocele, Unicoronal synostosis, Encephalo... OMIM:616300
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Tremor, V... OMIM:617862
Pseudodiastrophic Dysplasia
Platyspondyly, Scoliosis, Phalangeal dislocation, Omphalocele, Elbow dislocation ORPHA:85174
Kagami-Ogata Syndrome
Diastasis recti, Kyphoscoliosis, Thin ribs, Microtia, Long clavicles, Inguinal hernia, Flexion co... OMIM:608149
Masa Syndrome
Clinodactyly of the 5th finger, Hemiplegia/hemiparesis, Camptodactyly of finger, Spastic parapleg... ORPHA:2466
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Congenital Hydrocephalus
Hydrocephalus, Colpocephaly, Ventriculomegaly ORPHA:2185
Congenital Herpes Simplex Virus Infection
Hydranencephaly, Intrauterine growth retardation ORPHA:293
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Osteopathia Striata With Cranial Sclerosis
High palate, Hydrocephalus, Pectus excavatum, Cleft palate, Overfolded helix, Broad ribs, Omphalo... OMIM:300373
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Hydrocephalus, Aortic valve stenosis, Atrial septal defect, Hypopl... OMIM:220210
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections ORPHA:1548
Apert Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Hydrocephalus, Vertebral segment... ORPHA:87
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Vertigo, Ataxia, Abnormal head movements ORPHA:71518
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia OMIM:253310
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia OMIM:616733
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Ataxia, Dysplastic corpus callosum, Inability to walk, Microcephaly, Tetraparesis, Spasticity, To... OMIM:618276
Pontine Tegmental Cap Dysplasia
Sensorineural hearing impairment, Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis, Pontine teg... OMIM:614688
Otopalatodigital Syndrome, Type I
Pectus excavatum, Cleft palate, Short 3rd metacarpal, Broad hallux, Sandal gap, Omphalocele, Dela... OMIM:311300
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
High palate, Corner fracture of metaphysis, Platyspondyly, Short neck, Biconcave vertebral bodies... ORPHA:93315
Nevus Comedonicus Syndrome
Preaxial polydactyly, Scoliosis, Spina bifida occulta, Abnormal vertebral morphology, Spina bifid... ORPHA:64754
Distal Trisomy 15Q
High palate, Joint stiffness, Anal atresia, Pectus excavatum, Arachnodactyly, Camptodactyly of fi... ORPHA:1707
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Sensorineural hearing impairment, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Vent... OMIM:617992
Proximal 16P11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Rib fusion, Conductive hearing impairment, Congenital diaphragm... ORPHA:261197
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Accelerated skeletal maturation, Cleft palate, Genu valgum, Small epiphyses, Thoraci... OMIM:618363
Branchiootic Syndrome 1
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... OMIM:602588
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sensorineural hearing impairment, Rib fusion, Celiac disease, Clinodactyly of the 5th finger, Tap... ORPHA:544488
Diastrophic Dysplasia
Abnormal clavicle morphology, Cleft palate, Overfolded helix, Symphalangism affecting the phalang... ORPHA:628
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Pectus excavatum, Camptodactyly of finger, Synostosis of carpal b... ORPHA:957
Meckel Syndrome 12
Cerebral hypoplasia, Microcephaly, Rocker bottom foot, Vaginal atresia, Low-set ears, Agenesis of... OMIM:616258
Lissencephaly 3
Ataxia, Microcephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, Lissencephaly, V... OMIM:611603
Focal Dermal Hypoplasia
Telangiectasia of the skin, Hypoplastic pelvis, Abnormal epiphysis morphology, Umbilical hernia, ... ORPHA:2092
Caudal Regression Syndrome
Joint stiffness, Anal atresia, Hypoplastic vertebral bodies, Abnormal iliac wing morphology, Abno... ORPHA:3027
Ring Chromosome 21 Syndrome
Holoprosencephaly, Small hand, Fused thoracic vertebrae, Syndactyly, Scoliosis, Abnormal thorax m... ORPHA:1445
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Short thorax, Death in infancy, Vertebral fusion, Short long bone,... OMIM:618845
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... OMIM:618316
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, Protruding ear, Atrial septal defect, Pulmonic stenosis, Macrotia,... ORPHA:3304
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... OMIM:271530
Kniest Dysplasia
Enlarged joints, Flexion contracture of finger, Cleft palate, Short neck, Platyspondyly, Abnormal... ORPHA:485
Caudal Duplication
Myelomeningocele, Vertebral segmentation defect, Bifid sacrum, Intestinal duplication, Omphalocel... ORPHA:1756
Klippel-Feil Syndrome 1, Autosomal Dominant
Sensorineural hearing impairment, Conductive hearing impairment, Sprengel anomaly, Cervical C2/C3... OMIM:118100
Kagami-Ogata Syndrome
Diastasis recti, Kyphoscoliosis, Limitation of joint mobility, Inguinal hernia, Microtia, Coat ha... ORPHA:254519
Chiari Malformation Type Ii
Myelomeningocele, Ataxia, Hydrocephalus, Opisthotonus, Syringomyelia, Spina bifida, Agenesis of c... OMIM:207950
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Ossification Of The Posterior Longitudinal Ligament Of Spine
Abnormality of the vertebral column, Myelopathy OMIM:602475
Meckel Syndrome, Type 10
Abnormal pinna morphology, Cleft palate, Postaxial polydactyly, Anencephaly, Dilated fourth ventr... OMIM:614175
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Ca... ORPHA:3384
Distal Monosomy 10Q
Facial diplegia, High palate, Pectus excavatum, Prominent fingertip pads, Craniosynostosis, Cleft... ORPHA:96148
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Cleft palate, Short neck, 11 pairs of ribs, Multinucleated giant ... OMIM:108720
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Pulmonary hypoplasia OMIM:616867
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Spondyloepimetaphyseal Dysplasia With Joint Laxity
High palate, Cleft palate, Platyspondyly, Pectus carinatum, Ulnar deviation of finger, Abnormal e... ORPHA:93359
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Cleft palate, Craniosyn... OMIM:178110
Deafness, X-Linked 2
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... OMIM:304400
Baller-Gerold Syndrome
High palate, Hydrocephalus, Cleft palate, Hypoplasia of the radius, Hypoplasia of the ulna, Optic... OMIM:218600
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Overfolded helix, Abnormal 5th metacarpal morphology, Cone-shaped epiphysis, Dysgenesis of the ce... ORPHA:397715
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Vent... OMIM:179613
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Abnormal head movements, Chorea OMIM:616939
Heart Defects-Limb Shortening Syndrome
Narrow chest, Kyphosis, Accelerated skeletal maturation, Abnormal form of the vertebral bodies, A... ORPHA:1354
Mosaic Trisomy 1
Abnormal pinna morphology, Cleft palate, 2-3 finger syndactyly, Finger clinodactyly, Complete dup... ORPHA:1692
Autosomal Recessive Robinow Syndrome
Pectus excavatum, Short neck, Pectus carinatum, Sandal gap, Umbilical hernia, Ankyloglossia, Sacr... ORPHA:1507
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Abnormal pinna morphology, Vaginal atresia, Arachnodactyly, Femoral bowing, Stenos... OMIM:207410
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Pectus excavatum, Hemivertebrae, Pectus carinatum, Spinal canal stenosis, Clinodactyly of the 5th... OMIM:263540
Spondylometaphyseal Dysplasia, Axial
Narrow chest, Coxa vara, Narrow greater sciatic notch, Platyspondyly, Anterior rib cupping, Short... OMIM:602271
White Forelock With Malformations
Sprengel anomaly, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Spina bifida... ORPHA:2475
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Flat capital femora... OMIM:609223
Ehlers-Danlos Syndrome, Classic-Like, 2
High palate, Osteopenia, Short neck, Hammertoe, Ventral hernia, Umbilical hernia, Cervical C2/C3 ... OMIM:618000
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Iris coloboma, Chorioretinal coloboma ORPHA:231736
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Low-set ears, Hydrocephalus, Thin ribs, Platyspondyly, Cerebellar hypoplasia, Metaphyseal cupping... ORPHA:163966
Acrodysplasia Scoliosis
Vertebral segmentation defect, Brachydactyly, Scoliosis, Spina bifida occulta ORPHA:2956
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Vertebral segmentation defect, Abnormal helix morphology, Congeni... ORPHA:1120
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia OMIM:617468
Trisomy 18
Cleft palate, Anencephaly, Omphalocele, Delayed skeletal maturation, Intrauterine growth retardat... ORPHA:3380
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Short ribs, Brac... OMIM:617895
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Miscarriage, Absent glenoid fo... ORPHA:96334
Marshall-Smith Syndrome
High palate, Hydrocephalus, Pectus excavatum, Short sternum, Slender finger, Prominent fingertip ... OMIM:602535
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Narrow chest, Hydrocephalus, Abnormal pinna morphology, Congenital diaphragmatic hernia, Cleft pa... OMIM:616546
Cooper-Jabs Syndrome
Conductive hearing impairment, Abnormality of the middle ear, Congenital diaphragmatic hernia, Ab... ORPHA:1488
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Overlapping toe, Intrauterine growth retardation, Pectus excavatum, Prominent st... ORPHA:254528
Schneckenbecken Dysplasia
Cleft palate, Short neck, Platyspondyly, Nonimmune hydrops fetalis, Ovoid vertebral bodies, Umbil... OMIM:269250
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Chorea, Progressive extrapyramidal movement disorder, Athetosis, Abnormal head movements,... ORPHA:382
Masa Syndrome
Hydrocephalus, Adducted thumb, Microcephaly, Spastic paraplegia, Paraplegia, Shuffling gait, Vent... OMIM:303350
Microphthalmia, Syndromic 9
Atrial septal defect, Pulmonic stenosis, Single ventricle, Coarctation of aorta, Tetralogy of Fal... OMIM:601186
Gillessen-Kaesbach-Nishimura Syndrome
Large fleshy ears, Wide anterior fontanel, Congenital diaphragmatic hernia, Narrow greater sciati... OMIM:263210
Donnai-Barrow Syndrome
Sensorineural hearing impairment, Low-set ears, Wide anterior fontanel, Short sternum, Congenital... OMIM:222448
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of proximal phalanges, Hydrocephalus, Metaphyseal cupping, Thin ribs, Platysp... OMIM:300863
Ovarian Dysgenesis 3
Female infertility, Aplasia of the ovary, Primary amenorrhea OMIM:614324
Developmental And Speech Delay Due To Sox5 Deficiency
2-3 toe syndactyly, Lumbar hyperlordosis, Butterfly vertebrae, Narrow palate, Mitral regurgitatio... ORPHA:313892
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Osteogenesis Imperfecta, Type Xiii
Dislocated radial head, Protruding ear, Kyphoscoliosis, Increased bone mineral density, Arachnoda... OMIM:614856
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Pulmonary hypoplasia OMIM:236500
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Abnormal hip bone morphology, Short nec... ORPHA:2522
Simpson-Golabi-Behmel Syndrome
Pectus excavatum, Abnormal helix morphology, Accelerated skeletal maturation, Cleft palate, Aplas... ORPHA:373
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Sensorineural hearing impairment, Pulmonary artery hypoplasia, Ano... ORPHA:2326
Autosomal Recessive Spastic Paraplegia Type 66
Impaired vibration sensation in the lower limbs, Limb hypertonia, Hypoplasia of the corpus callos... ORPHA:401815
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Babinski sign, Difficulty walking, Progressive spastic paraplegia, Lim... ORPHA:401820
Huntington Disease-Like 3
Broad-based gait, Cerebral cortical atrophy, Extrapyramidal muscular rigidity, Extrapyramidal dys... ORPHA:157946
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Rib fusion, Anal atresia, Inguinal hernia, Thin ribs, Short ribs, Hemivertebrae, Supernumerary ve... OMIM:271520
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Sprengel anomaly, Anal atresia, Prune belly, Thoracolumbar scoliosis, Cervical ribs, Omphalocele,... OMIM:601389
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Iris coloboma, Eyelid coloboma, Spina bifida, Blepharophimosis... ORPHA:1104
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, High palate, Hydrocephalus, Hemivertebrae, Brachydactyly, Scoliosis, Abnormal f... ORPHA:2180
Joubert Syndrome 36
Sensorineural hearing impairment, Mesoaxial hand polydactyly, Pectus carinatum, Molar tooth sign ... OMIM:618763
Lethal Congenital Contracture Syndrome 10
Narrow chest, High palate, Thoracic scoliosis, Narrow palate, Adducted thumb, Oligohydramnios, Ov... OMIM:617022
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Sensorineural hearing impairment, Irregular vertebral endplates, Cone-shaped epiphyses of the pha... OMIM:609616
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Double Outlet Right Ventricle
Double outlet right ventricle, Abnormality of cartilage of external ear, Hypoplastic left heart, ... ORPHA:3426
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta, Absence of the sacrum, Asymme... OMIM:182940
Multiple Epiphyseal Dysplasia, Beighton Type
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Knee pain, Intervertebral space n... ORPHA:166011
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Dysplastic Cortical Hyperostosis
Aplasia/Hypoplasia of the lungs ORPHA:2204
Brachydactyly, Type B1
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed... OMIM:113000
Wolf-Hirschhorn Syndrome
Cleft palate, Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Delayed skeletal maturation, I... ORPHA:280
Kniest Dysplasia
Enlarged joints, Pectus excavatum, Cleft palate, Short neck, Platyspondyly, Hypoplastic pelvis, U... OMIM:156550
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
Thanatophoric Dysplasia Type 2
Narrow chest, Kyphosis, Hydrocephalus, Holoprosencephaly, Platyspondyly, Brachydactyly, Joint hyp... ORPHA:93274
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Jerky head movements, Involuntary movements, Postur... ORPHA:98807
Apert Syndrome
Hydrocephalus, Cutaneous syndactyly, Broad distal phalanx of the thumb, Synostosis of carpal bone... OMIM:101200
Chylomicron Retention Disease
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... OMIM:246700
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Motor stereotypy, Broad-based gait, Hydrocephalus, Microcephaly, Optic atrophy, Tremor, Spastic t... OMIM:619470
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Low-set, posteriorly rotated ears, Abnormal aortic arch morphology, M... ORPHA:1110
Thanatophoric Dysplasia, Type I
Hydrocephalus, Champagne cork sign, Femoral bowing, Short neck, Platyspondyly, Hypoplastic pelvis... OMIM:187600
Axial Spondylometaphyseal Dysplasia
Osteopenia, Platyspondyly, Upper limb undergrowth, Optic atrophy, Flared, irregular rib ends, Tho... ORPHA:168549
Achondroplasia
Limited hip extension, Bowing of the legs, Hydrocephalus, Conductive hearing impairment, Lumbar h... OMIM:100800
Schwartz-Jampel Syndrome, Type 1
High palate, Overfolded helix, Congenital hip dislocation, Short neck, Platyspondyly, Pectus cari... OMIM:255800
Iniencephaly
Myelomeningocele, Low-set ears, Hydrocephalus, Anal atresia, Duodenal atresia, Congenital diaphra... ORPHA:63259
Pallister-Hall Syndrome
Cleft palate, Hemivertebrae, Y-shaped metacarpals, Anteriorly placed anus, Radial head subluxatio... OMIM:146510
Kennerknecht syndrome
High palate, Abnormal pinna morphology, Malrotation of colon, Toe clinodactyly, Short neck, Thora... OMIM:600908
Minicore Myopathy With External Ophthalmoplegia
Pulmonary hypoplasia, Recurrent respiratory infections OMIM:255320
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Abnormal pinna morphology, Atrial septal de... ORPHA:477817
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Coat hanger sign of ribs, Polyhydramnios, Omphalocele, Umbilical hernia, Thoraci... ORPHA:254534
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum ORPHA:63260
Kbg Syndrome
Delayed skeletal maturation, Rib fusion, Protruding ear, Clinodactyly of the 5th finger, Ulnar de... OMIM:148050
Alg3-Cdg
Abnormal pinna morphology, Coarctation of the descending aortic arch, Neural tube defect, Hearing... ORPHA:79321
Heterotaxy, Visceral, 1, X-Linked
Hydrocephalus, Atrioventricular canal defect, Ventricular septal defect, Cardiomegaly, Double out... OMIM:306955
Chromosome 1P36 Deletion Syndrome, Distal
High palate, Hydrocephalus, 11 pairs of ribs, Optic disc coloboma, Optic atrophy, Optic disc pall... OMIM:607872
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Macroglossia, Scoliosis, Hyperlordosis, Cerebellar atrophy, Facial palsy, Vertebral fus... OMIM:606612
Diabetic Embryopathy
Hydrocephalus, Microtia, Low-set, posteriorly rotated ears, Tetralogy of Fallot, Ventricular sept... ORPHA:1926
Episodic Ataxia Type 4
Ataxia, Frequent falls, Vertigo, Abnormal head movements, Incoordination ORPHA:79136
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, In... OMIM:184250
Band Heterotopia
Hydrocephalus, Polymicrogyria, Ventriculomegaly, Spasticity, Subcortical band heterotopia, Agenes... OMIM:600348
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Congenital Disorder Of Glycosylation, Type Iig
Vertebral segmentation defect, High palate, Butterfly vertebrae, Cleft palate, Microtia, Small ha... OMIM:611209
Thanatophoric Dysplasia
Narrow chest, Kyphosis, Hydrocephalus, Intrauterine growth retardation, Joint stiffness, Platyspo... ORPHA:2655
Spondyloepiphyseal Dysplasia Congenita
Cleft palate, Barrel-shaped chest, Short neck, Platyspondyly, Pectus carinatum, Limitation of kne... OMIM:183900
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Achondrogenesis Type 1B
Narrow chest, Thickened nuchal skin fold, Short neck, Hydrops fetalis, Abnormal rib morphology, F... ORPHA:93298
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... OMIM:610947
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Increased bone mineral density, Cleft palate, Abnormal vertebral ... ORPHA:90650
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Osteopenia, Short neck, Platyspondyly, Intrauterine growth retardation, Thoracic hy... OMIM:616897
Serkal Syndrome
Pulmonary hypoplasia ORPHA:139466
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the lungs, Hydranencephaly, Abnormal pleura morphology, Holoprosencephaly ORPHA:2570
Mosaic Trisomy 14
Narrow chest, High palate, Ectopic anus, Cleft palate, Microtia, Camptodactyly of finger, Short n... ORPHA:1703
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Generalized ost... ORPHA:1159
Spondylosis, Cervical
Spondylolysis, Cervical spondylosis, Spondylolisthesis, Spina bifida occulta OMIM:184300
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Broad metacarpals, Papilledema, Osteolysis involving bones of the lower limbs, Osteopenia, Broad ... ORPHA:371428
Femoral-Facial Syndrome
Abnormal pinna morphology, Cleft palate, Short fourth metatarsal, Hemivertebrae, Radioulnar synos... OMIM:134780
Al-Gazali-Bakalinova Syndrome
Pectus excavatum, Inguinal hernia, Short neck, Pectus carinatum, Genu valgum, Clinodactyly, Molar... OMIM:607131
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
High palate, Prominent sternum, Short neck, Platyspondyly, Optic disc pallor, Cone-shaped capital... OMIM:300232
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... OMIM:619274
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Spermatogenic Failure 15
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:616950
Bardet-Biedl Syndrome 1
Gait imbalance, Ataxia, Vaginal atresia, Postaxial polydactyly, Micropenis, Poor coordination, Br... OMIM:209900
Amish Lethal Microcephaly
Microcephaly, Limb hypertonia, Optic atrophy, Lissencephaly, Ventriculomegaly, Spina bifida, Agen... ORPHA:99742
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... ORPHA:2248
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal antihelix morphology, Kyphosis, Clinodactyly of the 5th finger, Hypoplastic vertebral bo... ORPHA:2916
Klippel-Feil Syndrome 2, Autosomal Recessive
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Spren... OMIM:214300
Cog1-Cdg
Posterior rib gap, Rib fusion, Vertebral segmentation defect, Kyphoscoliosis, Butterfly vertebrae... ORPHA:263508
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... OMIM:614980
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Conductive hearing impairment, Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Latera... OMIM:171480
Miller-Dieker Syndrome
Polyhydramnios, Clinodactyly of the 5th finger, Omphalocele, Sacral dimple ORPHA:531
Meckel Syndrome, Type 6
Hydrocephalus, Anencephaly, Pulmonary hypoplasia, Bilobed right lung, Occipital encephalocele OMIM:612284
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... ORPHA:174
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Atelosteogenesis, Type Ii
Pulmonary hypoplasia OMIM:256050
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the tongue, Arachnodactyly, Overfolded heli... ORPHA:2759
Trigonocephaly 1
Lumbar hemivertebrae, Meckel diverticulum, Omphalocele, Craniosynostosis OMIM:190440
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydrometrocolpos, Transverse vaginal septum, Vaginal atresia, Cryptorchidi... OMIM:236700
Thanatophoric Dysplasia, Type Ii
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... OMIM:187601
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Platyspondyly, Short thorax, Abnormal metaphysis morp... ORPHA:93304
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Craniofacial hyperostosis, Stenosis of the external auditory canal... ORPHA:1513
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Transposition of the grea... ORPHA:1727
1P36 Deletion Syndrome
11 pairs of ribs, Optic atrophy, Pyloric stenosis, Spinal canal stenosis, Rib fusion, Joint stiff... ORPHA:1606
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... OMIM:271650
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Urogenital sinus anomaly, Hypoplasia of penis, Ambiguous genitalia, male, Bifid scrotum, Ambiguou... ORPHA:753
Lissencephaly, X-Linked, 1
Ataxia, Micropenis, Agyria, Lissencephaly, Spasticity, Pachygyria, Agenesis of corpus callosum OMIM:300067
Slc35A2-Cdg
Craniosynostosis, Osteopenia, Hip subluxation, Limb joint contracture, Intrauterine growth retard... ORPHA:356961
Pentalogy Of Cantrell
Hydrocephalus, Abnormal sternum morphology, Congenital diaphragmatic hernia, Cleft palate, Anence... ORPHA:1335
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Irregular acetabular roof, Genu valgum, Irregular iliac crest, Abnormal metaphysis... ORPHA:93316
Fryns Syndrome
Abnormal helix morphology, Prominent fingertip pads, Cleft palate, Short neck, Broad ribs, Omphal... OMIM:229850
Mucopolysaccharidosis, Type Vi
Hydrocephalus, Prominent sternum, Delayed eruption of teeth, Pectus carinatum, Genu valgum, Broad... OMIM:253200
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996