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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 placenta morphology Vangl2em1(IMPC)Mbp HOM E15.5 0.00
abnormal tail movements Vangl2Lp HET Early adult 3.71×10-06
decreased circulating cholesterol level Vangl2Lp HET Early adult 1.51×10-07
abnormal snout morphology Vangl2Lp HET Early adult 5.08×10-07
decreased circulating HDL cholesterol level Vangl2Lp HET Early adult 1.89×10-06
kinked tail Vangl2Lp HET Early adult 3.56×10-13
preweaning lethality, complete penetrance Vangl2em1(IMPC)Mbp HOM   Early adult 0.00
curly tail Vangl2Lp HET Early adult 4.80×10-07

Download data as:  TSV  XLS

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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.

Phenotype associated images not available

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
Anencephaly, Asymmetry of spinal facet joints, Myelomeningocele, Absence of the sacrum, Sacral di... OMIM:182940
Isolated Anencephaly
Omphalocele, Maternal diabetes, Intrauterine growth retardation, Congenital diaphragmatic hernia,... ORPHA:563609
Isolated Exencephaly
Posterior pituitary agenesis, Holoprosencephaly, Anterior pituitary hypoplasia, Low-set ears, Age... 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 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Oocyte Maturation Defect 8
Female infertility OMIM:619009
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
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Decreased testicular size, Non-obstructive a... OMIM:619528
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Hymen, Imperforate
Hydrocolpos, Imperforate hymen, Amenorrhea, Hematocolpos OMIM:237100
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
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 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Myelomeningocele, Missing r... OMIM:613686
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Genitopalatocardiac Syndrome
Ventricular septal defect, Double outlet right ventricle, Right aortic arch, Transposition of the... OMIM:231060
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Deafness, X-Linked 6
Cochlear malformation, Hearing impairment OMIM:300914
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral a... OMIM:618780
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Pulmonary hypoplasia OMIM:615228
Fetal Akinesia Deformation Sequence 1
Cleft palate, Small placenta, Hydrocephalus, Camptodactyly of finger, Cerebellar hypoplasia, Abno... OMIM:208150
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Male infertility, Reduced progressiv... OMIM:619585
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 3
Infertility OMIM:606766
Oocyte Maturation Defect 3
Infertility OMIM:617712
Oocyte Maturation Defect 4
Infertility OMIM:617743
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Heterotaxy, Visceral, 4, Autosomal
Right aortic arch, Ventricular septal defect, Atrioventricular canal defect, Dextrocardia OMIM:613751
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Vaginal Atresia
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... ORPHA:65681
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia OMIM:614096
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Cleft palate, Abnormal form of the vertebral bodies, Sho... ORPHA:2311
Isochromosomy Yp
Ambiguous genitalia, Decreased testicular size, Male infertility, Azoospermia ORPHA:98797
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Posterior rib fusion, Short thorax, Missing ribs, Spina bifida occult... ORPHA:1797
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal cranial nerve morphology, Cleft palate, Ectopic anu... ORPHA:2345
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia OMIM:274210
Femoral-Facial Syndrome
Rib fusion, Maternal diabetes, Cleft palate, Abnormal sacrum morphology, Abnormality of pelvic gi... ORPHA:1988
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormality of male internal genitalia, Male infertility, Bilateral cryptorchidism OMIM:261550
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Slender finger, Scoliosis, Rib fusion, Hypoplasia of the odontoid process, Vertebral se... OMIM:609813
Cerebrofaciothoracic Dysplasia
Cleft palate, Hemivertebrae, Bifid ribs, Low-set, posteriorly rotated ears, Hernia, Polyhydramnio... ORPHA:1394
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Limb Body Wall Complex
Abnormality of the vertebral column, Cutaneous finger syndactyly, Abnormal intestine morphology, ... ORPHA:2369
Hydatidiform Mole, Recurrent, 4
Recurrent spontaneous abortion, Female infertility OMIM:618432
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Abnormality of epiphysis morphology, Bowing of the long bones, Abnormal clavicle mor... ORPHA:93267
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Optic atrophy, Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Ab... OMIM:618164
Becker Nevus Syndrome
Abnormality of tibia morphology, Pectus excavatum, Pectus carinatum, Kyphosis, Supernumerary ribs... ORPHA:64755
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Aicardi Syndrome
Dilated third ventricle, Cleft palate, Proximal placement of thumb, Polymicrogyria, Block vertebr... OMIM:304050
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Pectus carinatum, Premature birth, Finger syndactyly, Abnormal rib morp... ORPHA:3268
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... ORPHA:98798
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Ventriculomegaly, Stereotypy, Ataxia, Hydrocephalus, Attenti... OMIM:618709
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Death in infancy, Vertebral fusion, Hemivertebrae, Kyphoscol... OMIM:277300
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral clefting, Rib fusion, Short neck, Vertebral segmentation defect OMIM:608681
Basal Cell Nevus Syndrome
Cleft palate, Abnormal sternum morphology, Short ribs, Hydrocephalus, Short 4th metacarpal, Calci... OMIM:109400
Velocardiofacial Syndrome
Interrupted aortic arch, Ventricular septal defect, Umbilical hernia, Right aortic arch with mirr... OMIM:192430
Ophthalmoplegia, External, And Myopia
Spina bifida, Ptosis OMIM:311000
Restrictive Dermopathy 1
Decreased calvarial ossification, Congenital pseudoarthrosis of the clavicle, Hydropic placenta, ... OMIM:275210
Hydrocephalus With Associated Malformations
Pulmonary hypoplasia, Hydrocephalus OMIM:236640
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Involuntary movements, Jerky head movements, Torticollis, Focal dyston... ORPHA:98807
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Pectus excavatum, Spindle-shaped finger, Abnormal vertebral morphology, Delayed... ORPHA:166024
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Situs inversus totalis, Dextrocardia, Hearing impairment OMIM:617577
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Dystonia, Babinski sign, Jerky head movements, Spastic gait, Spastic dys... ORPHA:251282
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Perisylvian polymicrogyria, Megalencephaly, Abnormal vertebral morp... ORPHA:280195
Neu-Laxova Syndrome 1
Cleft palate, Joint contracture of the hand, Small placenta, Finger syndactyly, Cerebellar hypopl... OMIM:256520
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Azoospermia, Abnormality of ... ORPHA:261529
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Mucocutaneous Ulceration, Chronic
Vaginal mucosal ulceration OMIM:618287
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Opticocochleodentate Degeneration
Cochlear degeneration, Optic atrophy, Hearing impairment OMIM:258700
Aicardi Syndrome
Cleft palate, Aplasia/Hypoplasia of the cerebellum, Polymicrogyria, Block vertebrae, Protruding e... ORPHA:50
Boomerang Dysplasia
Poorly ossified vertebrae, Omphalocele, Abnormality of the ulna, Abnormality of tibia morphology,... ORPHA:1263
Fibrochondrogenesis 1
Omphalocele, Broad ischia, Cleft palate, Short ribs, Joint contracture of the hand, Camptodactyly... OMIM:228520
Dextrocardia With Unusual Facies And Microphthalmia
Cleft palate, Vertebral fusion, Macrotia, Supernumerary ribs, Vertebral segmentation defect OMIM:221950
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus OMIM:277000
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Abnormal intestine morphology, Abnormality of the knee, Premature birth, Congenital ... ORPHA:1834
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Kbg Syndrome
Vertebral fusion, Macrotia, Radial deviation of finger, Vertebral arch anomaly, Thoracic kyphosis... OMIM:148050
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Female infertility, Primary amenorrhea, Premature ovarian ins... OMIM:612310
Tuberculosis
Abnormal lung morphology ORPHA:3389
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Cleft palate, Low-set ears, High palate, Posteriorly rotated ears, Joint hypermobility, Sacral di... OMIM:213980
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Ventricular septal defect, Atrial septal defect, Hydrocephalus OMIM:603387
Huntington Disease-Like 1
Clumsiness, Gait disturbance, Involuntary movements, Jerky head movements, Frequent falls, Dysmet... ORPHA:157941
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Severe sensorineural hearing... OMIM:604213
Spondylocostal Dysostosis 5
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Pectus carinatum, Posterior rib fusion, Mis... OMIM:122600
Diaphanospondylodysostosis
Cleft palate, Absent or minimally ossified vertebral bodies, Myelomeningocele, Abnormal vertebral... ORPHA:66637
Restrictive Dermopathy
Small placenta, Camptodactyly of finger, Low-set ears, Large placenta, Aplasia/Hypoplasia of the ... ORPHA:1662
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Microphthalmia, Syndromic 12
Pulmonary hypoplasia OMIM:615524
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Dysmenorrhea, Metrorrhagia, Uterus didelphys, Dyspareunia, Partial vaginal septum, A... ORPHA:3411
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Otopalatodigital Syndrome Type 2
Omphalocele, Cleft palate, Hearing impairment, Hydrocephalus, Increased bone mineral density, Cam... ORPHA:90652
Lethal Congenital Contracture Syndrome 9
Short umbilical cord, Ankylosis, Preeclampsia, Adducted thumb, Intrauterine growth retardation, D... OMIM:616503
Aarskog-Scott Syndrome
Pectus excavatum, Cleft palate, Abnormal vertebral segmentation and fusion, Low-set, posteriorly ... ORPHA:915
Autosomal Recessive Multiple Pterygium Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Cleft palate, Abnormal sternum morphology, ... ORPHA:2990
Sprengel Deformity
Cervical segmentation defect, Hemivertebrae, Rib segmentation abnormalities, Sprengel anomaly, Sp... OMIM:184400
Spondylometaphyseal Dysplasia, Type A4
Broad ischia, Coxa valga, Pectus carinatum, Metaphyseal widening, Metaphyseal irregularity, Platy... OMIM:609052
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Ventricular septal defect, Facial palsy, Patent ductus arteriosus,... OMIM:147770
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment, Abnormali... OMIM:601369
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus, Hearing impairment ORPHA:1705
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal aortic arch morphology, Conotruncal defect, Abnormality of the pu... ORPHA:2306
Metatropic Dysplasia
Long thorax, Abnormal intervertebral disk morphology, Cleft palate, Abnormal form of the vertebra... ORPHA:2635
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:245650
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Ventriculomegaly, Hearing impairment, Mild malformation of cortical d... ORPHA:500166
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Conductive hearing impairment, Cone-shaped epiphysis, Mitral regurgitation, Co... OMIM:157800
Multiple Pterygium Syndrome, Escobar Variant
Cleft palate, Syndactyly, Low-set ears, Umbilical hernia, Dysplastic patella, Conductive hearing ... OMIM:265000
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy, Babinski sign, Dysplastic corpus callosum, Spastic gait, Lower limb spasticity, Sp... OMIM:613162
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dystonia, Dysplastic corpus callosum, Ataxia, Inability to walk, Tetraparesis, Tongue fasciculati... OMIM:618276
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Tibial bowing, Radial bowing, Intrauterine growth retardation, Lower limb undergrowt... ORPHA:3035
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Poland Syndrome
Hemivertebrae, Unilateral oligodactyly, Short ribs, Sprengel anomaly, Syndactyly, Rib fusion, Uni... OMIM:173800
Triploidy
Meningocele, Omphalocele, Cleft palate, Intrauterine growth retardation, Holoprosencephaly, Macro... ORPHA:3376
Kbg Syndrome
Cleft palate, Vertebral fusion, Cutaneous syndactyly, Macrotia, Bilateral conductive hearing impa... ORPHA:2332
Greenberg Dysplasia
Omphalocele, Abnormal intestine morphology, Epiphyseal stippling, Neonatal death, Short ribs, Sup... OMIM:215140
Melnick-Needles Syndrome
Omphalocele, Short thorax, Delayed eruption of teeth, Hearing impairment, Anisospondyly, Delayed ... ORPHA:2484
Lateral Meningocele Syndrome
Meningocele, Biconcave vertebral bodies, Conductive hearing impairment, High palate, Pectus excav... OMIM:130720
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility OMIM:608653
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Overrid... OMIM:601927
Congenital Hydrocephalus
Abnormal cortical gyration, Small cerebral cortex, Colpocephaly, Ventriculomegaly, Hydrocephalus,... ORPHA:2185
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Ventriculomegaly, Stereotypy, Ataxia, Progressive microcephaly, Tremor, Hypoplasia of the corpus ... OMIM:617862
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle, Recurrent otitis media OMIM:618254
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, Dextrocardia, ... OMIM:616749
Aphalangy With Hemivertebrae
Pulmonary hypoplasia OMIM:207620
Carpenter Syndrome 1
Omphalocele, Genu varum, Joint contracture of the hand, Deviation of finger, Shallow acetabular f... OMIM:201000
Unilateral Hemispheric Polymicrogyria
Dilation of lateral ventricles, Thick cerebral cortex, Cortical dysplasia, Cerebral hypoplasia ORPHA:101071
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs ORPHA:3346
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Acropectorovertebral Dysplasia
Toe syndactyly, Capitate-hamate fusion, Abnormal vertebral morphology, Bifid distal phalanx of th... OMIM:102510
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Hypertension, Pectus excavatum, Intrauterine growth retardation, Hemivertebrae, Posterior rib fus... OMIM:608406
Lissencephaly Type Iii And Bone Dysplasia
Pulmonary hypoplasia OMIM:601160
Mesomelia-Synostoses Syndrome
Short umbilical cord, Metacarpal synostosis, Abnormal vertebral morphology, Absent uvula, Partial... OMIM:600383
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria OMIM:614870
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Omphalocele, Cleft palate, Undulate clavicles, Short metatarsal, Sh... OMIM:304120
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ven... OMIM:617912
Robinow Syndrome, Autosomal Recessive 1
Duplication of the distal phalanx of hand, Absent uvula, Broad toe, Hypoplastic sacrum, Delayed s... OMIM:268310
Phaver Syndrome
Conductive hearing impairment, Ventricular septal defect, Myelomeningocele, Overfolded helix, Coa... ORPHA:2876
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Primary amenorrhea, Bicornuate uterus OMIM:191830
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of the... ORPHA:2790
Vacterl/Vater Association
Omphalocele, Abnormal intervertebral disk morphology, Cleft palate, Anencephaly, Intrauterine gro... ORPHA:887
Metatropic Dysplasia
Epiphyseal dysplasia, Short ribs, Halberd-shaped pelvis, Anisospondyly, Flared femoral metaphysis... OMIM:156530
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Aortic arch... ORPHA:1455
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Ventricular septal defect, Biventricula... ORPHA:860
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary hypoplasia OMIM:619003
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Persis... OMIM:617478
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Septo-optic dysplasia, Missing ribs, Vaginal atresia, Aplasia/Hypoplasia involving... ORPHA:3301
Polymicrogyria With Optic Nerve Hypoplasia
Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum, Polymicrogyria ORPHA:250972
Fibrochondrogenesis
Abnormal diaphysis morphology, Omphalocele, Cleft palate, Hypoplastic scapulae, Abnormal form of ... ORPHA:2021
Acalvaria
Omphalocele, Cleft palate, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Spina bifida,... ORPHA:945
Congenital unilateral pulmonary hypoplasia
Abnormality of the pulmonary artery, Aplasia/Hypoplasia of the lungs, Anomalous pulmonary venous ... ORPHA:2258
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pulmonary hypoplasia OMIM:224410
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilated third ventricle, Dysplastic corpus callosum, Celiac disease, Tapered finger, Periventricu... ORPHA:544488
Multiple Pterygium Syndrome, X-Linked
Cleft palate, Intrauterine growth retardation, Vertebral fusion, Fetal akinesia sequence, Thin ri... OMIM:312150
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Huntington Disease-Like 3
Dystonia, Caudate atrophy, Chorea, Abnormal head movements, Abnormality of extrapyramidal motor f... ORPHA:157946
Brachyolmia Type 1, Hobaek Type
Flat acetabular roof, Intervertebral space narrowing, Sclerotic foci of metaphyses of the elbow, ... OMIM:271530
Pseudodiastrophic Dysplasia
Omphalocele, Platyspondyly, Elbow dislocation, Scoliosis, Phalangeal dislocation ORPHA:85174
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Diastrophic Dysplasia
Cleft palate, Overfolded helix, Abnormal form of the vertebral bodies, Symphalangism affecting th... ORPHA:628
Osteopathia Striata With Cranial Sclerosis
Omphalocele, Cleft palate, Overfolded helix, Joint contracture of the hand, Hydrocephalus, Campto... OMIM:300373
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Congenital Tracheomalacia
Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Patent duct... ORPHA:95430
Apert Syndrome
Cleft palate, Aplasia/Hypoplasia of the thumb, Delayed eruption of teeth, Finger syndactyly, Hydr... ORPHA:87
Marshall-Smith Syndrome
Omphalocele, Overfolded helix, Hearing impairment, Atlantoaxial dislocation, Cerebral atrophy, Lo... OMIM:602535
Kagami-Ogata Syndrome
Omphalocele, Long clavicles, Thin ribs, Premature birth, Kyphoscoliosis, Long fingers, Pulmonary ... OMIM:608149
Microphthalmia, Syndromic 3
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Hypothalamic hamartoma, Optic nerve hypopla... OMIM:206900
Multiple Pterygium Syndrome, Lethal Type
Cleft palate, Intrauterine growth retardation, Vertebral fusion, Fetal akinesia sequence, Thin ri... OMIM:253290
Distal Trisomy 15Q
Omphalocele, Pectus excavatum, High palate, Intrauterine growth retardation, Arachnodactyly, Anal... ORPHA:1707
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Jerky head movements, Limb myoclonus, Rigidity, Frequent falls, Limb aprax... ORPHA:240103
Ring Chromosome 21 Syndrome
Holoprosencephaly, Small hand, Clinodactyly, Abnormal thorax morphology, Syndactyly, Thoracic hem... ORPHA:1445
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Pallister-Hall-Like Syndrome
Pulmonary hypoplasia, Hydrocephalus OMIM:241800
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Ventricular septal defect, Abnormal descending aorta morphology,... ORPHA:99050
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Simplified gyral pattern, Stereotypy, Tremor, Periventricular white matter hyperin... OMIM:619470
Pontine Tegmental Cap Dysplasia
Hemivertebrae, Facial palsy, Sensorineural hearing impairment, Ankle clonus, Pontine tegmental ca... OMIM:614688
Frontal Encephalocele
Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, Cerebral calcification ORPHA:1931
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Cleft palate, Hearing impairment, Limited elbow extension, Elbow flexion contracture, High palate... ORPHA:93359
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dilated third ventricle, Colpocephaly, Overfolded helix, Abnormality of the optic disc, Short rib... ORPHA:397715
Masa Syndrome
Gait disturbance, Ventriculomegaly, Camptodactyly of finger, Spastic paraplegia, Clinodactyly of ... ORPHA:2466
Pseudotrisomy 13 Syndrome
Omphalocele, 2-3 toe syndactyly, Hemivertebrae, Median cleft lip and palate, Holoprosencephaly, P... OMIM:264480
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Tarsal synostosis, Cleft palate, Vertebral fusion, Hemivertebrae, Hip contracture, Pectus carinat... OMIM:178110
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Pulmonic stenosis, Atrial septal defect... OMIM:220210
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs ORPHA:1548
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Double outlet left ventricle, Patent ductus arteriosus, Abnormal left ventricul... ORPHA:216694
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia OMIM:253310
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Ataxia, Abnormal head movements, Vertigo ORPHA:71518
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Intervertebral space narrowing, Genu varum, Flat capital femoral epiphysis, Pectus carinatum, Irr... OMIM:609223
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia OMIM:616733
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology, Cerebral calcification ORPHA:73256
Short-Rib Thoracic Dysplasia 12
Omphalocele, Hamartoma of tongue, Neonatal death, Short thorax, Short ribs, Hydrocephalus, Short ... OMIM:269860
Branchiootic Syndrome 1
Cochlear malformation, Dilatated internal auditory canal, Hypoplasia of the cochlea, Branchial fi... OMIM:602588
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Sensorineural hearing impairment... OMIM:617992
Nevus Comedonicus Syndrome
Toe syndactyly, Abnormal vertebral morphology, Finger syndactyly, Preaxial polydactyly, Spina bif... ORPHA:64754
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Hydrocephalus, Agenesis of corpus callosum OMIM:300864
Distal Monosomy 10Q
Cleft palate, Short metatarsal, Cerebellar hypoplasia, Low-set ears, Protruding ear, Prominent fi... ORPHA:96148
Spondylometaphyseal Dysplasia, Axial
Proximal femoral metaphyseal irregularity, Optic atrophy, Thoracic hypoplasia, Anterior rib cuppi... OMIM:602271
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short lower limbs, Underfolded helix, Genu varum, Upper limb undergrowth, Metaphyseal irregularit... ORPHA:93315
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Cleft palate, Hip contracture, Short thorax, Hearing impairment, Short long bone, Small epiphyses... OMIM:618363
Slc35A2-Cdg
Atrophy/Degeneration affecting the brainstem, Elevated circulating thyroid-stimulating hormone co... ORPHA:356961
Otopalatodigital Syndrome, Type I
Omphalocele, Cleft palate, Short 5th metacarpal, Capitate-hamate fusion, Lateral femoral bowing, ... OMIM:311300
Osteogenesis Imperfecta, Type Xiii
Pectus carinatum, Kyphoscoliosis, Osteoporosis, Platyspondyly, Dislocated radial head, Arachnodac... OMIM:614856
Holoprosencephaly 5
Lobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Central diabetes insipidus, Hydrocep... OMIM:609637
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Schizencephaly, Dysgenesis of the basal ganglia, Abnormal caudate nuc... ORPHA:300573
Meckel Syndrome 12
Cerebral hypoplasia, Rocker bottom foot, Vaginal atresia, Low-set ears, Agenesis of corpus callos... OMIM:616258
Acropectorovertebral Dysplasia
Tarsal synostosis, Pectus excavatum, Triphalangeal thumb, Synostosis of carpal bones, Finger synd... ORPHA:957
Trisomy 18
Omphalocele, Cleft palate, Deviation of finger, Aplasia/Hypoplasia of the corpus callosum, Campto... ORPHA:3380
Proximal 16P11.2 Microdeletion Syndrome
Pyloric stenosis, Conductive hearing impairment, Cleft palate, Abnormal vertebral morphology, Con... ORPHA:261197
Intellectual Developmental Disorder, X-Linked 103
Dilation of lateral ventricles, Polymicrogyria OMIM:300982
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Intrauterine growth retardation, Thin ribs, Abnormality of the calcaneus, Hypop... ORPHA:163966
Mosaic Trisomy 1
Omphalocele, Cleft palate, Deviation of the 5th toe, Broad toe, Complete duplication of thumb pha... ORPHA:1692
Lissencephaly 3
Lissencephaly, Ventriculomegaly, Spastic tetraplegia, Ataxia, Pachygyria, Polymicrogyria, Agyria,... OMIM:611603
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Flat acetabular roof, Irregular vertebral endplates, Beaking of vertebral bodies, Hypoplastic ili... OMIM:609616
Baller-Gerold Syndrome
Cleft palate, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Hydrocephalus, Polymicro... OMIM:218600
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Kagami-Ogata Syndrome
Omphalocele, Thoracic hypoplasia, Premature birth, Kyphoscoliosis, Coat hanger sign of ribs, Poly... ORPHA:254519
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar cyst, Cerebellar atrophy, Vertebral fusion, Macroglossia, Achilles tendon contracture,... OMIM:606612
Trisomy 1Q
Omphalocele, Toe syndactyly, Cleft palate, Congenital diaphragmatic hernia, Short thorax, Arachno... ORPHA:261344
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia OMIM:617468
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Vertebral fusion, Short thorax, Sacral dimple, Short long bone, Vertebral segme... OMIM:618845
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart OMIM:601348
Focal Dermal Hypoplasia
Omphalocele, Duodenal atresia, Abnormal dental enamel morphology, Short ribs, Hearing impairment,... ORPHA:2092
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Persistent left superior vena cava, Double outlet right ventricle, Recurrent otitis media, Macrot... ORPHA:3304
Achondroplasia
Conductive hearing impairment, Limited hip extension, Genu varum, Lumbar kyphosis in infancy, Spi... OMIM:100800
Pseudoachondroplasia
Genu varum, Abnormal form of the vertebral bodies, Metaphyseal irregularity, Abnormality of femor... ORPHA:750
Truncus Arteriosus
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary arte... ORPHA:3384
Caudal Duplication
Omphalocele, Myelomeningocele, Abnormal sacrum morphology, Bifid sacrum, Spina bifida, Intestinal... ORPHA:1756
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Thin ribs, Hypoplastic iliac wing, Metaphyseal cupping of metaca... OMIM:300863
Chiari Malformation Type Ii
Opisthotonus, Myelomeningocele, Syringomyelia, Ataxia, Cervical myelopathy, Spina bifida, Hydroce... OMIM:207950
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal hip joint morphology, Abnormal lumbar spine morphology, Hearing impairment, Thoracic sco... ORPHA:166011
Kniest Dysplasia
Cleft palate, Short thorax, Abnormal bone structure, Hearing impairment, Short long bone, Coronal... ORPHA:485
Miller-Dieker Syndrome
Omphalocele, Polyhydramnios, Lissencephaly, Sacral dimple, Clinodactyly of the 5th finger, Hypopl... ORPHA:531
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Large fleshy ears, Short ribs, Multiple prenatal fractures, Cerebellar hypoplasia, ... OMIM:616897
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Metaphyseal widening, Large fleshy ears, Congenital diaphragmatic hernia, Posteriorl... OMIM:263210
White Forelock With Malformations
Low-set, posteriorly rotated ears, Finger syndactyly, Sprengel anomaly, Abnormal rib morphology, ... ORPHA:2475
Apert Syndrome
Cutaneous finger syndactyly, Broad distal hallux, Megalencephaly, Chronic otitis media, Synostosi... OMIM:101200
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Delayed skeletal maturation, Low-set ears, Small epiphyses, Optic disc pallor, High palate, Anter... OMIM:300232
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Double outlet right ventricle, Posteriorly rotated ears, Patent ductus... OMIM:179613
Deafness, X-Linked 2
Conductive hearing impairment, Dilatated internal auditory canal, Congenital sensorineural hearin... OMIM:304400
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Simplified gyral pattern, Hearing impairment, Ventriculomegaly, Attention ... OMIM:608716
Heart Defects-Limb Shortening Syndrome
Death in infancy, Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Kyphosis,... ORPHA:1354
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Double outlet right ventricle, Patent ductus arteriosus, Atrial septal... OMIM:618316
Acrodysplasia Scoliosis
Vertebral segmentation defect, Scoliosis, Brachydactyly, Spina bifida occulta ORPHA:2956
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hernia of the abdominal wall, Omphalocele, Upper limb undergrowth, Epiphyseal stippling, Prominen... ORPHA:96334
Pendred Syndrome
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear malformation OMIM:274600
Cooper-Jabs Syndrome
Conductive hearing impairment, Anteriorly placed anus, Congenital diaphragmatic hernia, Low-set, ... ORPHA:1488
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft lip and palate, Omphalocele, Foot oligodactyly, Holoprosencephaly, Absent septum ... OMIM:601357
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hypoplastic labia majora, Femoral bowing, Rocker bottom foot, Narrow pelvis bone, Abnormality of ... OMIM:207410
Spondyloepimetaphyseal Dysplasia, Strudwick Type
C1-C2 subluxation, Cleft palate, Metaphyseal dappling, Anterior rib cupping, Pectus carinatum, De... OMIM:184250
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Upper limb undergrowth, Short ribs, Cupped ribs, Iliac crest serration... ORPHA:168549
Thanatophoric Dysplasia
Abnormal ilium morphology, Intrauterine growth retardation, Abnormal sacroiliac joint morphology,... ORPHA:2655
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Underfolded helix, 2-3 toe syndactyly, Short middle phalanx of finger, Short pointed phalanges, B... OMIM:263540
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... OMIM:617205
Pallister-Hall Syndrome
Cleft palate, Neonatal death, Microglossia, Syndactyly, Atresia of the external auditory canal, S... OMIM:146510
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Microcephaly ORPHA:2435
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect, Umbilical hernia, Patent ductus arteriosus OMIM:615297
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... OMIM:246700
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Pectus excavatum, Abnormal clavicle morphology, Fused cervical vertebrae, Kyphosis, Abnormal rib ... ORPHA:2522
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Pulmonary hypoplasia OMIM:616867
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Irregularity of vertebral bodies, Abnormal hip joint morphology, Genu ... ORPHA:1159
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Triphalangeal thumb, Congenital diaphragmatic hernia, Proximal placement of thu... ORPHA:1120
Simpson-Golabi-Behmel Syndrome
Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature, Cleft palate, Death in infancy... ORPHA:373
Osteogenesis Imperfecta, Type Xv
Thin ribs, Schizencephaly, Hypoplasia of the pons, Platyspondyly, Joint hypermobility, Bowing of ... OMIM:615220
Mucopolysaccharidosis, Type Vi
Hypoplastic acetabulae, Metaphyseal irregularity, Epiphyseal dysplasia, Hearing impairment, Hydro... OMIM:253200
Double Outlet Right Ventricle
Ventricular septal defect, Truncus arteriosus, Double outlet right ventricle, Abnormality of cart... ORPHA:3426
Microphthalmia, Syndromic 9
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Coarctation of aorta, Rig... OMIM:601186
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Omphalocele, Pectus excavatum, Thoracic hypoplasia, Intrauterine growth retardation, Macroglossia... ORPHA:254528
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Pectus carinatum, Tapered finger, Short finger, Platyspondyly, Knee flexion cont... OMIM:313420
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Short thorax, Abnormality of the metaphysis, Platyspondyly, Increased vertebral h... ORPHA:93304
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Aganglionic megacolon, Gait imbalance, Poor coordination, Postaxial pol... OMIM:209900
Masa Syndrome
Adducted thumb, Paraplegia, Shuffling gait, Lower limb spasticity, Ventriculomegaly, Hydrocephalu... OMIM:303350
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Double outlet right ventricle, Pulmonary artery hypoplasia, Sensorineural... ORPHA:2326
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Pulmonary hypoplasia, Hydranencephaly OMIM:236500
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Short greater sciatic notch, Wide-cupped costochondral junction... OMIM:187601
Spondyloepimetaphyseal Dysplasia, Irapa Type
Upper limb undergrowth, Metaphyseal dysplasia, Capitate-hamate fusion, Pectus carinatum, Short me... OMIM:271650
Autosomal Recessive Robinow Syndrome
Broad hallux phalanx, Death in infancy, Chronic otitis media, Hearing impairment, Finger syndacty... ORPHA:1507
Thanatophoric Dysplasia, Type I
Short greater sciatic notch, Small abnormally formed scapulae, Wide-cupped costochondral junction... OMIM:187600
Wolf-Hirschhorn Syndrome
Abnormality of the vertebral column, Cleft palate, Chronic otitis media, Abnormal form of the ver... ORPHA:280
Cog1-Cdg
Irregularity of vertebral bodies, Butterfly vertebrae, High palate, Temporal cortical atrophy, Sh... ORPHA:263508
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Iris coloboma, Aplasia/Hypoplasia of the earlobes, Spina bifid... ORPHA:1104
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Optic atrophy, 2-3 toe syndactyly, Butterfly vertebrae, Vertebral fusion... ORPHA:313892
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the vertebral column, Abnormal ilium morphology, Metaphyseal dysplasia, Abnormalit... ORPHA:93316
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Hemivertebrae, Thin ribs, Missing ribs, Short ribs, Anal atresia, Supernumerary... OMIM:271520
Chromosome 1P36 Deletion Syndrome, Distal
Dilated cardiomyopathy, Asymmetry of the ears, Leukoencephalopathy, Hearing impairment, 11 pairs ... OMIM:607872
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Pyloric stenosis, Omphalocele, Elevated circulating follicle stimulating hormone level, Bifid dis... OMIM:618419
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Horizontal ribs, Thoracic hypoplasia, Lateral clavicle hook, Postaxial polydactyly, ... OMIM:617895
Joubert Syndrome 36
Sensorineural hearing impairment, Mesoaxial hand polydactyly, Molar tooth sign on MRI, Pectus car... OMIM:618763
Brachydactyly, Type B1
Cutaneous finger syndactyly, Short middle phalanx of finger, Delayed eruption of permanent teeth,... OMIM:113000
Meckel Syndrome, Type 6
Pulmonary hypoplasia, Hydrocephalus, Anencephaly OMIM:612284
Autosomal Recessive Spastic Paraplegia Type 67
Babinski sign, Agenesis of corpus callosum, Spastic gait, Limb tremor, Lower limb spasticity, Pro... ORPHA:401820
Dysplastic Cortical Hyperostosis
Aplasia/Hypoplasia of the lungs ORPHA:2204
Pyle Disease
Metaphyseal dysplasia, Metaphyseal widening, Platyspondyly, Abnormal thorax morphology, Genu valg... OMIM:265900
Atelosteogenesis, Type Ii
Flat acetabular roof, Thoracic hypoplasia, Cleft palate, Increased intervertebral space, Coronal ... OMIM:256050
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Fryns Microphthalmia Syndrome
Macrotia, Neural tube defect OMIM:600776
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Omphalocele, Prune belly, Anal atresia, Sprengel anomaly, Cervical ribs, Preaxial hand polydactyl... OMIM:601389
Caudal Regression Sequence
Hypertension, Arrhinencephaly, Maternal diabetes, Chiari malformation, Abnormal vertebral segment... ORPHA:3027
Trigonocephaly 1
Omphalocele, Meckel diverticulum, Craniosynostosis, Lumbar hemivertebrae, Microcephaly OMIM:190440
Aorta Coarctation
Bicuspid aortic valve, Coarctation of the descending aortic arch, Persistent left superior vena c... ORPHA:1457
Spondylometaphyseal Dysplasia, A4 Type
Flared, irregular rib ends, Platyspondyly, Coxa vara, Limitation of joint mobility, Short palm ORPHA:168555
Lethal Congenital Contracture Syndrome 10
Omphalocele, Stiff neck, High palate, Intrauterine growth retardation, Adducted thumb, Fetal akin... OMIM:617022
Iniencephaly
Dandy-Walker malformation, Omphalocele, Anencephaly, Myelomeningocele, Duodenal atresia, Holopros... ORPHA:63259
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Macrotia, Low-set, posteriorly rotated ears, Overriding aorta, A... ORPHA:1110
Diabetic Embryopathy
Abnormal aortic morphology, Ventricular septal defect, Low-set, posteriorly rotated ears, Hearing... ORPHA:1926
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Hypoplasia of the corpus callosum ORPHA:401815
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion, Microcephaly OMIM:251250
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology ORPHA:488635
Alg3-Cdg
Coarctation of the descending aortic arch, Neural tube defect, Abnormality of the pinna, Cardiomy... ORPHA:79321
Spondyloepimetaphyseal Dysplasia, Irapa Type
Upper limb undergrowth, Abnormal joint morphology, Pectus carinatum, Abnormality of epiphysis mor... ORPHA:93351
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Poor coordination, Chorea, Paroxysmal dyskinesia, Falls, Ventriculomegaly, Stereotypy, ... OMIM:619150
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cava, Double outl... ORPHA:477817
Schwartz-Jampel Syndrome, Type 1
Anterior bowing of long bones, Hip contracture, Overfolded helix, Joint contracture of the hand, ... OMIM:255800
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Hemivertebrae, Abnormal form of the vertebral bodies, Abnormal dental enamel morphol... ORPHA:2180
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Thoracic hypoplasia, Bowing of the legs,... OMIM:608728
Al-Gazali-Bakalinova Syndrome
Pectus excavatum, Agenesis of corpus callosum, Pectus carinatum, Genu valgum, Molar tooth sign on... OMIM:607131
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Jerky head movements, Choreoathetosis, Ataxia, Oculomotor apraxia, Microcephaly OMIM:245348
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Double outl... ORPHA:1330
Otopalatodigital Syndrome Type 1
Cleft palate, Abnormal vertebral segmentation and fusion, Bowing of the long bones, Proximal plac... ORPHA:90650
Meacham Syndrome
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cav... OMIM:608978
Spondyloepiphyseal Dysplasia Tarda
Abnormality of the tibial plateaux, Dysplasia of the femoral head, Knee osteoarthritis, Abnormal ... ORPHA:93284
Band Heterotopia
Subcortical band heterotopia, Ventriculomegaly, Hydrocephalus, Polymicrogyria, Spasticity, Agenes... OMIM:600348
Minicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Hearing impairment, Aortic valve stenosis, Osteoporosis,... OMIM:253010
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Thoracic hypoplasia, Coat hanger sign of ribs, Polyhydramnios, Diastasis recti, Larg... ORPHA:254534
Mucopolysaccharidosis, Type Iva
Epiphyseal deformities of tubular bones, Hearing impairment, Osteoporosis, Kyphosis, Flaring of r... OMIM:253000
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Achondrogenesis Type 1B
Short thorax, Polyhydramnios, Thickened nuchal skin fold, Short foot, Femoral hernia, Abnormal ri... ORPHA:93298
Kennerknecht Syndrome
Omphalocele, Toe syndactyly, High palate, Abnormal joint morphology, Abnormality of the pinna, To... OMIM:600908
Spondylosis, Cervical
Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis OMIM:184300
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the vertebral column, Abnormal intervertebral disk morphology, Abnormality of the ... ORPHA:99642
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Metaphyseal irregularity, Streaky metaphyseal sclerosis, Caudal interpedicular narrowing, Carpal ... OMIM:603546
Mosaic Trisomy 14
High palate, Cleft palate, Ectopic anus, Low-set, posteriorly rotated ears, Narrow chest, Abnorma... ORPHA:1703
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Dandy-Walker malformation, Omphalocele, Horizontal ribs, Cleft palate, Postaxial polydactyly, Mac... OMIM:616300
Serkal Syndrome
Pulmonary hypoplasia ORPHA:139466
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear aplasia OMIM:619553
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal,... OMIM:619274
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cleft palate, Anencephaly, Postaxial polydactyly, Congenital diaphragmatic hernia, Abnormality of... OMIM:616546
Kniest Dysplasia
Cleft palate, Hip contracture, Umbilical hernia, Hypoplastic pelvis, Conductive hearing impairmen... OMIM:156550
Femoral-Facial Syndrome
Cleft palate, Hypoplastic acetabulae, Short humerus, Short fourth metatarsal, Low-set ears, Limit... OMIM:134780
1P36 Deletion Syndrome
Pyloric stenosis, Dilated cardiomyopathy, Abnormal intestine morphology, Foot polydactyly, 11 pai... ORPHA:1606
Hypoplastic Left Heart Syndrome
Mitral atresia, Mitral stenosis, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal ... ORPHA:2248
Pseudoachondroplasia
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... OMIM:177170
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Tibial bowing, Short finger, Metaphyseal widening, Recurrent otitis media, Metaphyseal irregulari... OMIM:608940
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Aortic an... OMIM:614980
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Proximal femoral metaphyseal irregularity, Irregularity of vertebral bodies, Arthralgia of the hi... OMIM:609324
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Small hand, Spastic tetraplegia, Stereotypy, Hypertonia, Short foot, Polymicrogyria, Secondary mi... OMIM:615282
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal ilium morphology, Abnormality of the knee, Abnormal vertebral morphology, Restricted lar... ORPHA:163665
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Holoprosencephaly, Hydranencephaly, Aplasia/Hypoplasia of the lungs, Abnormal pleura morphology ORPHA:2570
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Bifid sternum, Cervical spina bifida, Spinal dysraphism ORPHA:63260
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Hemivertebrae, Abnormal antitragus morphology, Premature birth, Overfolded helix, Abnormal form o... ORPHA:2759
Intellectual Developmental Disorder With Autism And Speech Delay
Pachygyria, Inability to walk, Stereotypy OMIM:606053
Greenberg Dysplasia
Preeclampsia, Anterior rib punctate calcifications, Abnormal form of the vertebral bodies, Platys... ORPHA:1426
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Hypertension, Osteolysis involving bones of the lower limbs, Atrioventricular block,... ORPHA:371428
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Conductive hearing impairment, Long clavicles, Genu varum, Lateral clavicle hook, Phocomelia, Apl... OMIM:171480
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormality of the vertebral column, Cervical platyspondyly, Abnormal ilium morphology, Genu varu... ORPHA:93314
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Mckusick-Kaufman Syndrome
Rectovaginal fistula, Vesicovaginal fistula, Vaginal atresia, Transverse vaginal septum, Cryptorc... OMIM:236700
Klippel-Feil Syndrome 2, Autosomal Recessive
Conductive hearing impairment, Cleft palate, Cervical C2/C3 vertebral fusion, Abnormality of the ... OMIM:214300
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis OMIM:601612
C Syndrome
Omphalocele, Toe syndactyly, High palate, Ulnar deviation of finger, Fused sternal ossification c... OMIM:211750
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Optic atrophy, Diaphyseal thickening, Craniofacial hyperostosis, A... ORPHA:1513
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Intervertebral space narrowing, Broad tibial metaphyses, I... OMIM:271630
Brachyolmia, Maroteaux Type
Pectus excavatum, Abnormal form of the vertebral bodies, Short thorax, Platyspondyly, Scoliosis ORPHA:93302
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Dyggve-Melchior-Clausen Disease
Abnormality of the vertebral column, Metaphyseal dysplasia, Hypoplastic acetabulae, Epiphyseal dy... ORPHA:239
Osteogenesis Imperfecta, Type Ix
Short lower limbs, Decreased calvarial ossification, Pectus excavatum, Pectus carinatum, Platyspo... OMIM:259440
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Cleft palate, Vertebral fusion, Hemivertebrae, Abnormal form of the vertebral bodies, Abnormal de... ORPHA:2916
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Hearing impairment, Transposition of the grea... ORPHA:1727
Aminopterin Syndrome Sine Aminopterin
Cleft palate, High palate, Rudimentary postaxial polydactyly of hands, Megalencephaly, Intrauteri... OMIM:600325
Episodic Ataxia Type 4
Frequent falls, Abnormal head movements, Vertigo, Ataxia, Incoordination ORPHA:79136
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Short thorax, Platyspondyly, Polyhydramnios, Kyphosis, Hearing impairment, Abn... ORPHA:93274
Mucopolysaccharidosis, Type Vii
Hearing impairment, Hydrocephalus, Umbilical hernia, Hydrops fetalis, Anterior beaking of lumbar ... OMIM:253220
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Bowing of the long bones, Abnormal form of the verte... ORPHA:1801
Scimitar Syndrome
Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arteriosus, Anomalous pulmona... ORPHA:185
Donnai-Barrow Syndrome
Omphalocele, Congenital diaphragmatic hernia, Posteriorly rotated ears, Intestinal malrotation, S... ORPHA:2143
Lissencephaly, X-Linked, 1
Ataxia, Pachygyria, Micropenis, Agyria, Spasticity, Lissencephaly, Agenesis of corpus callosum OMIM:300067
Klippel-Feil Syndrome 1, Autosomal Dominant
Conductive hearing impairment, Cleft palate, Abnormal vertebral segmentation and fusion, Cervical... OMIM:118100
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Spondylocarpotarsal Synostosis Syndrome
Cleft palate, Failure of eruption of permanent teeth, Capitate-hamate fusion, C2-C3 subluxation, ... OMIM:272460
Aplasia Cutis Congenita
Spinal dysraphism, Facial palsy ORPHA:1114
3Mc Syndrome 1
Conductive hearing impairment, Omphalocele, Cleft palate, Abnormality of the abdominal wall, Conj... OMIM:257920
Zttk Syndrome
Cerebellar hypoplasia, Low-set ears, Protruding ear, Intestinal atresia, Rib fusion, High palate,... OMIM:617140
Waardenburg Syndrome Type 1
Meningocele, Aganglionic megacolon, Ptosis, Congenital sensorineural hearing impairment, Telecant... ORPHA:894
Frontometaphyseal Dysplasia 1
Long phalanx of finger, Partial fusion of carpals, Delayed eruption of teeth, Camptodactyly of fi... OMIM:305620
Acromesomelic Dysplasia 4
Third degree atrioventricular block, Genu varum, Short metatarsal, Broad toe, Metaphyseal irregul... OMIM:619636
Amish Lethal Microcephaly
Optic atrophy, Limb hypertonia, Ventriculomegaly, Spina bifida, Lissencephaly, Agenesis of corpus... ORPHA:99742
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida, Narrow palpebral fissure, Chorioretinal coloboma, Severe sensorineural hea... OMIM:600122
Gorlin Syndrome
Vertebral fusion, Vertebral wedging, Hemivertebrae, Arachnodactyly, Hydrocephalus, Cerebral calci... ORPHA:377
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Abnormal aortic morphology, Abnormality of the pulmonary artery, Tetra... ORPHA:1166
Dysspondyloenchondromatosis
Cerebral calcification, Osteoarthritis, Kyphoscoliosis, Generalized joint laxity, Joint dislocati... ORPHA:85198
Developmental And Epileptic Encephalopathy 89
Omphalocele, Cerebral atrophy, Cleft palate, Cerebellar atrophy, Asymmetry of the ears, Neonatal ... OMIM:619124
Melnick-Needles Syndrome
Omphalocele, Cleft palate, Delayed eruption of teeth, Limited elbow extension, Short humerus, Del... OMIM:309350
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Abnormality of the abdominal wall, Metaphyseal irregularity, Platyspondyly, Short rib... OMIM:602557
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Phocomelia, Holoprosencephaly, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypopl... ORPHA:3186
Ogden Syndrome
Torticollis, Abnormal head movements, Macrotia, Shuffling gait, Ventriculomegaly, Hypertonia, Bro... ORPHA:276432
Neural Tube Defects, Susceptibility To
Anencephaly, Asymmetry of spinal facet joints, Myelomeningocele, Absence of the sacrum, Sacral di... OMIM:182940
Hypotonia, Infantile, With Psychomotor Retardation
Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:616816
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Meckel diverticulum, Agenesis of cerebellar vermis, Abnormal cerebral ... ORPHA:163961
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Stereotypy, Inability to walk, Spastic diplegia, Secondary microcephaly OMIM:617830
Ulnar Hemimelia