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 |
|