Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619878 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619672 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:619831 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Male infertility, Immotile sperm |
OMIM:618091 |
Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia |
OMIM:265430 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility |
OMIM:617593 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Spermatogenic Failure 25 |
|
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Right aortic arch, Transposition of the great arteries, Low-set ears, ... |
OMIM:231060 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... |
OMIM:301099 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Isochromosomy Yp |
|
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility |
ORPHA:98797 |
Fetal Akinesia Deformation Sequence 1 |
|
Elbow contracture, Polyhydramnios, Short neck, Fetal akinesia sequence, High, narrow palate, Cong... |
OMIM:208150 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
OMIM:300604 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... |
ORPHA:65681 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 64 |
|
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... |
OMIM:619696 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... |
OMIM:301059 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Low-set, posteriorly rotated ears, Abnormal in... |
ORPHA:2311 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft palate, Abno... |
ORPHA:2345 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Renal, Genital, And Middle Ear Anomalies |
|
Vaginal atresia |
OMIM:267400 |
Spermatogenic Failure 42 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
Limb Body Wall Complex |
|
Congenital diaphragmatic hernia, Amniotic constriction ring, Cutaneous finger syndactyly, Aplasia... |
ORPHA:2369 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Pulmonary hypoplasia |
OMIM:615228 |
Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb,... |
ORPHA:93267 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
Becker Nevus Syndrome |
|
Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerar... |
ORPHA:64755 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Anal stenosis, Abnormal odontoid process morphology, Block vertebrae, Missing r... |
OMIM:613686 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida, Ptosis |
OMIM:311000 |
Femoral-Facial Syndrome |
|
Inguinal hernia, Short femur, Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Co... |
ORPHA:1988 |
Septopreoptic Holoprosencephaly |
|
Abnormal midbrain morphology, Hypoplasia of the pons, Abnormal rib morphology, Anteriorly placed ... |
ORPHA:280195 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Cerebrofaciothoracic Dysplasia |
|
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Polyhydramnios, Short neck, Rib ... |
ORPHA:1394 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:2631 |
Isochromosomy Yq |
|
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect |
OMIM:608681 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Abnormality of the ear, Interrupted aortic arch, Pulmonary artery atre... |
OMIM:192430 |
Nphp3-Related Meckel-Like Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3032 |
Restrictive Dermopathy 1 |
|
Spontaneous chorioamniotic separation, Polyhydramnios, Flexion contracture, Premature rupture of ... |
OMIM:275210 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol... |
OMIM:277300 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Premature birth, Delayed skeletal maturation, Abnormality of the elbow, Abnorm... |
ORPHA:3268 |
Diaphanospondylodysostosis |
|
Missing ribs, Short neck, Myelomeningocele, Short thorax, Cleft palate, Narrow pelvis bone, Enlar... |
ORPHA:66637 |
Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Block vertebrae, Spina bifida, Missing ribs, Proximal placement of ... |
OMIM:304050 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Pulmonary hypoplasia |
OMIM:616531 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Lethal Congenital Contracture Syndrome 9 |
|
Thoracic kyphoscoliosis, Decreased fetal movement, Elbow extension contracture, Polyhydramnios, A... |
OMIM:616503 |
Basal Cell Nevus Syndrome 1 |
|
Short distal phalanx of the thumb, Vertebral fusion, Down-sloping shoulders, Spina bifida, Kyphos... |
OMIM:109400 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... |
OMIM:618300 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
ORPHA:3033 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Vaginal mucosal ulceration |
OMIM:618287 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Ciliary Dyskinesia, Primary, 37 |
|
Right aortic arch, Dextrocardia, Hearing impairment, Situs inversus totalis |
OMIM:617577 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Fibrochondrogenesis 1 |
|
Short neck, Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th fi... |
OMIM:228520 |
You-Hoover-Fong Syndrome |
|
Coarctation of aorta, Hearing impairment, Double aortic arch, Vascular ring |
OMIM:616954 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Recurrent otitis media, Ventricular septal defect |
OMIM:617616 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... |
ORPHA:500166 |
Neu-Laxova Syndrome 1 |
|
Polyhydramnios, Short neck, Fetal akinesia sequence, Calcaneovalgus deformity, Neonatal death, Pt... |
OMIM:256520 |
Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Enlarged joints, Pectus excavatum, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndac... |
ORPHA:166024 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Pulmonary hypoplasia |
OMIM:618174 |
Aicardi Syndrome |
|
Intestinal polyposis, Block vertebrae, Missing ribs, Hiatus hernia, Malabsorption, Partial agenes... |
ORPHA:50 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Abnormality of the knee, Premature birth, Congenital diaphragmatic hernia, Missing r... |
ORPHA:1834 |
Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Glossoptosis, Narrow chest, Short palm, Abnormal vertebral segmentation and... |
ORPHA:90652 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplasia of... |
OMIM:604213 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... |
ORPHA:3411 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... |
OMIM:614779 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Cerebellar vermis hypoplasia, Short neck, Glossoptosis, Vertebral... |
OMIM:611209 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Restrictive Dermopathy |
|
Osteopenia, Multiple joint contractures, Premature delivery because of cervical insufficiency or ... |
ORPHA:1662 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Multiple pterygia, Symphalangism affecting the phalanges of the hand, Abnormal sternum morphology... |
ORPHA:2990 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Boomerang Dysplasia |
|
Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae,... |
ORPHA:1263 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Polyhydramnios, Short neck, Hemivertebrae, High palate, ... |
OMIM:213980 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Vascular ring |
OMIM:603387 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Hearing impairment |
ORPHA:1705 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Hy... |
OMIM:265000 |
Larsen-Like Syndrome, Lethal Type |
|
Pulmonary hypoplasia |
OMIM:245650 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... |
OMIM:601927 |
Aarskog-Scott Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Delayed eruption of teeth, Inguinal hernia,... |
ORPHA:915 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Pulmonary hypoplasia |
OMIM:614096 |
Vacterl/Vater Association |
|
Low-set, posteriorly rotated ears, Occipital encephalocele, Finger syndactyly, Abnormal intervert... |
ORPHA:887 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Mesomelia-Synostoses Syndrome |
|
Progressive forearm bowing, Hearing impairment, Polyhydramnios, Short metatarsal, Absent uvula, T... |
OMIM:600383 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... |
OMIM:616749 |
Melnick-Needles Syndrome |
|
Narrow chest, Anisospondyly, Short thorax, Abnormal rib morphology, Cone-shaped epiphyses of the ... |
ORPHA:2484 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Ciliary Dyskinesia, Primary, 39 |
|
Recurrent otitis media, Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Camptodactyly of fing... |
ORPHA:2635 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Hemivertebrae, Short r... |
OMIM:173800 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... |
OMIM:617205 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2141 |
Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619949 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Ataxia, Reduced cerebral white matter volume, Inability to walk, Dysplastic corpus callosum, Unst... |
OMIM:620317 |
Isolated Dandy-Walker Malformation |
|
Encephalocele, Frontal bossing, Cleft palate, Prominent occiput, Platybasia |
ORPHA:217 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Encephalocele, Short nose, Convex nasal ridge |
OMIM:200130 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Microcephaly, Hydrocephalus, Cortical dysplasia, Attention deficit hyperactivity disorder... |
OMIM:618709 |
Microphthalmia, Syndromic 12 |
|
Pulmonary hypoplasia |
OMIM:615524 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
Triploidy |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Omphalocele, Intestinal malrotation, Polyhy... |
ORPHA:3376 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Interrup... |
OMIM:617478 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Hydroceph... |
ORPHA:2306 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Fetal akinesia sequence, Flexion contrac... |
OMIM:156530 |
Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:3346 |
Phaver Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Conductive hearing impairment, Myelomeningoc... |
ORPHA:2876 |
Lateral Meningocele Syndrome |
|
Short neck, Chiari type I malformation, High palate, Conductive hearing impairment, Vertebral fus... |
OMIM:130720 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
Short-Rib Thoracic Dysplasia 12 |
|
Polyhydramnios, Bowing of the legs, Short neck, Lobulated tongue, Thoracic dysplasia, Narrow ches... |
OMIM:269860 |
Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal m... |
ORPHA:3035 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Encephalocele, Omphalocele, Posteriorly rotated ears, Postaxial hand polydactyl... |
OMIM:264480 |
Congenital Diaphragmatic Hernia |
|
Pulmonary hypoplasia |
ORPHA:2140 |
Bardet-Biedl Syndrome 6 |
|
Vaginal atresia, Hypospadias, External genital hypoplasia |
OMIM:605231 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary hypoplasia |
OMIM:619003 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... |
OMIM:102510 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ... |
ORPHA:860 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Hypoplasia of... |
OMIM:617914 |
Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Short neck, Hearing abnormality, Wide... |
ORPHA:2021 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, C... |
ORPHA:2332 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Short neck, High palate, Conductive hearing im... |
OMIM:201000 |
Trisomy 1Q |
|
Omphalocele, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Polyhydramnios, Congenital ... |
ORPHA:261344 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Missing ribs, Cryptorchidism, Hydrocephalus, Optic atrophy, Abnormal rib m... |
ORPHA:3301 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Polyhydramnios, Fetal akinesia ... |
OMIM:312150 |
Isolated Hemihyperplasia |
|
Myelomeningocele, Asymmetry of the thorax, Scoliosis |
ORPHA:2128 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Premature corona... |
OMIM:300845 |
Renal Hypodysplasia/Aplasia 1 |
|
Bicornuate uterus, Vaginal atresia, Primary amenorrhea |
OMIM:191830 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Exostoses, Multiple, Type Ii |
|
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... |
OMIM:133700 |
Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
ORPHA:95430 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
Huntington Disease-Like 1 |
|
Abnormal head movements, Restlessness, Chorea, Dysmetria, Gait ataxia, Bradykinesia, Abnormal sho... |
ORPHA:157941 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Se... |
ORPHA:2790 |
Acalvaria |
|
Omphalocele, Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Cleft palate, Holoprosencep... |
ORPHA:945 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... |
ORPHA:216694 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Bilateral cleft palate, Short femur, Anterior encephalocele, Foot oligodactyly, Holo... |
OMIM:601357 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Molar tooth s... |
OMIM:616300 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... |
OMIM:268310 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... |
OMIM:253000 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... |
ORPHA:231736 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnor... |
ORPHA:99050 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Polyhydramnios, Fetal akinesia ... |
OMIM:253290 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Long clavicles, Premature birth, Diastasis recti, Kyphoscoliosis, C... |
OMIM:608149 |
Pseudodiastrophic Dysplasia |
|
Omphalocele, Phalangeal dislocation, Elbow dislocation, Platyspondyly, Scoliosis |
ORPHA:85174 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Chiari Malformation Type Ii |
|
Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia, Dyspha... |
OMIM:207950 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c... |
OMIM:178110 |
Apert Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Es... |
ORPHA:87 |
Osteopathia Striata With Cranial Sclerosis |
|
Polyhydramnios, Partial agenesis of the corpus callosum, Osteopathia striata, Craniofacial osteos... |
OMIM:300373 |
Guanidinoacetate Methyltransferase Deficiency |
|
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju... |
ORPHA:382 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections |
ORPHA:1548 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Neural Tube Defects, Susceptibility To |
|
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin... |
OMIM:182940 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Congenital diaphragmatic hernia, Pyloric stenosis, Sensorineural hearing impair... |
ORPHA:261197 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Inguinal hernia, Enlarged joints, Tapered finger, Pectus excavatum, Short n... |
OMIM:607131 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Hydrocephalus, Aortic valve stenosis, Hypoplastic left heart, Pulmonic... |
OMIM:220210 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Tricuspid Atresia |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... |
ORPHA:1209 |
Lethal Congenital Contracture Syndrome 1 |
|
Pulmonary hypoplasia |
OMIM:253310 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Inguinal hernia, Tapered toe, Polyhydramnios, Tapered finger, Celiac disease, Dysp... |
ORPHA:544488 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Spastic gait, Impaired vibration sensation in the lower limbs, Limb ataxia, Impai... |
ORPHA:251282 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Pulmonary hypoplasia |
OMIM:601163 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Pontine Tegmental Cap Dysplasia |
|
Facial palsy, Sensorineural hearing impairment, Rib fusion, Hemivertebrae, Ankle clonus, Scoliosi... |
OMIM:614688 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Pulmonary hypoplasia |
OMIM:616733 |
Distal Duplication 15Q |
|
Omphalocele, Arachnodactyly, Camptodactyly of finger, Short neck, Pectus excavatum, Joint stiffne... |
ORPHA:1707 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Femoral bowing, Conductive hearing impairment, Broad di... |
OMIM:311300 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Death in infancy, Short thorax, Short long bone, Vertebral segme... |
OMIM:618845 |
Caudal Duplication |
|
Abnormal penis morphology, Spina bifida, Cryptorchidism, Myelomeningocele, Uterus didelphys, Spin... |
ORPHA:1756 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Protruding ear, Reduced bone mineral dens... |
ORPHA:93315 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Branchiootic Syndrome 1 |
|
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the... |
OMIM:602588 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Abnormal thorax morphology, Small hand, Holoprosencephaly, ... |
ORPHA:1445 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Abnormal vestibular function, Ventricular septal defect, Sensorineural hearing impairment, Tetral... |
OMIM:617992 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Scoliosis, Spina bifida oc... |
ORPHA:64754 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Symphalangism affec... |
ORPHA:628 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Pulmonary hypoplasia |
OMIM:616867 |
Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... |
OMIM:253010 |
Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Abnormal dental enamel morphology, Sp... |
ORPHA:2092 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Omphalocele, Overlapping toe, Underfolded helix, Posteriorly rotated ears, Intestinal m... |
OMIM:618316 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Proximal femoral metaphyseal irregularity,... |
ORPHA:397715 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Pectus excavatum, Tr... |
ORPHA:957 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Short nose, Anteverted nares, Cleft palate |
ORPHA:2015 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Premature birth, Diastasis recti, Kyphoscoliosis, Coxa valga, Short... |
ORPHA:254519 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Thoracic scoliosis, Overlapping fingers, Stiff neck, Short neck, Fetal akinesia sequ... |
OMIM:617022 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Knee disloc... |
OMIM:618000 |
Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
Congenital Herpes Simplex Virus Infection |
|
Hydranencephaly, Intrauterine growth retardation |
ORPHA:293 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus, Pulmonary hypoplasia |
OMIM:241800 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Patent ductus arteriosus, Macrotia, Protruding ear, Recurrent otitis media, Pul... |
ORPHA:3304 |
Vitamin K Antagonist Embryofetopathy |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Myelomeningocele, Hydrocephalus, Macro... |
ORPHA:1914 |
Meckel Syndrome 12 |
|
Rocker bottom foot, Microcephaly, Hypoplasia of the uterus, Low-set ears, Agenesis of corpus call... |
OMIM:616258 |
Anophthalmia Plus Syndrome |
|
Low-set, posteriorly rotated ears, Spina bifida, Aplasia/Hypoplasia of the earlobes, Eyelid colob... |
ORPHA:1104 |
Distal Deletion 10Q |
|
2-3 toe cutaneous syndactyly, Short metatarsal, Protruding ear, High palate, Clinodactyly of the ... |
ORPHA:96148 |
Atelosteogenesis, Type I |
|
Polyhydramnios, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neon... |
OMIM:108720 |
Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Vertigo, Ataxia |
ORPHA:71518 |
Autosomal Recessive Robinow Syndrome |
|
Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Chro... |
ORPHA:1507 |
Hemihyperplasia, Isolated |
|
Myelomeningocele, Scoliosis |
OMIM:235000 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Cerebral white matter atrophy, Ataxia, Inability to walk, Dysplastic corpus callosum |
ORPHA:599373 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Patent ductus arteriosus, Pulmonic stenosis,... |
OMIM:179613 |
Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Accelerated skeletal maturation, Kyphosis, Abnormal rib morphology, Abnormal fo... |
ORPHA:1354 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Tetrasomy 15Q26 |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Cupped ear, Hydrocephalus, Low-set ears, Atria... |
OMIM:614846 |
Linear Verrucous Nevus Syndrome |
|
Retinopathy, Iris coloboma, Aplasia/Hypoplasia of the fovea, Hypophosphatemia |
ORPHA:2611 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Mixed hearing impairment, Short neck, Sensorineural hearing impairment, Abnormal rib morphology, ... |
OMIM:118100 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal maturation, Distal w... |
OMIM:602535 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, Exaggerated median tongue furrow... |
ORPHA:313892 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Pulmonary hypoplasia |
OMIM:617468 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Proximal placement of thumb, Missing ... |
ORPHA:1488 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Myelopathy, Abnormality of the vertebral column |
OMIM:602475 |
White Forelock With Malformations |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Delayed skeletal maturation, Abnormal rib m... |
ORPHA:2475 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Abnormal ear morphology, Aggressive behavior, Dysplastic corpus callosum, Primary microcephaly, C... |
OMIM:618010 |
Mosaic Trisomy 1 |
|
Thoracic scoliosis, Cerebellar vermis hypoplasia, Polyhydramnios, Congenital diaphragmatic hernia... |
ORPHA:1692 |
Spondylometaphyseal Dysplasia, Axial |
|
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Optic atrophy, Coxa vara, Platys... |
OMIM:602271 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcan... |
ORPHA:163966 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Tricuspid regurgitation, Proximal placement of thumb, Spina bifida, Abnormal th... |
ORPHA:1120 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Genu valgum, Pectu... |
OMIM:609223 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Optic atrophy, Spastic gait, Hypoplasia of the corpus callosum |
OMIM:613162 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Thickened nuchal skin fold, Posteriorly rotated ears, Polyhydramnios, Short neck, Co... |
OMIM:263210 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly |
ORPHA:2956 |
Trisomy 18 |
|
Congenital diaphragmatic hernia, Pointed helix, Holoprosencephaly, Hernia, Low-set, posteriorly r... |
ORPHA:3380 |
Joubert Syndrome 18 |
|
Joint laxity, Occipital encephalocele, Trident pelvis, Bowing of the long bones, Agenesis of cere... |
OMIM:614815 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Omphalocele, Inguinal hernia, Joint laxity, Overlapping toe, Diastasis recti, Polyhydra... |
ORPHA:254528 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Polyhydramnios, Short neck, Flexion contracture, Hemivertebrae, Tibial bowing, Narrow chest, Hypo... |
ORPHA:96334 |
Schneckenbecken Dysplasia |
|
Polyhydramnios, Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Nonimmune hydro... |
OMIM:269250 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Abnormal pinna morphology, Arachnodactyly, Rocker bottom foot, Hydrocephalus, Ulnar bowing, Humer... |
OMIM:207410 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
OMIM:267430 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Omphalocele, Thoracolumbar scoliosis, Preaxial hand polydactyly, Cervical ribs, Sprengel anomaly,... |
OMIM:601389 |
Donnai-Barrow Syndrome |
|
Omphalocele, Posteriorly rotated ears, Intestinal malrotation, Congenital diaphragmatic hernia, W... |
OMIM:222448 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly |
OMIM:614870 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Lateral clavicle hook, Hypop... |
OMIM:617895 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphysea... |
OMIM:300863 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Joint laxity, Optic nerve hypoplasia, Short neck, Hip dislocati... |
OMIM:615583 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi... |
OMIM:304120 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Sacral dimple, Abnormal pinna morphology, Post... |
OMIM:614175 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... |
OMIM:609616 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Spina bifida |
ORPHA:2476 |
Meacham Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct... |
OMIM:608978 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hearing impairment, Polyhydramnios, Kyphosis, Hydrocephalus, Short thorax, Increas... |
ORPHA:93274 |
Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Hydrometrocolpos, Vaginal atresia |
OMIM:615989 |
Ovarian Dysgenesis 3 |
|
Primary amenorrhea, Female infertility, Aplasia of the ovary |
OMIM:614324 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Short neck, Pectus excavatum, Hyperlordosis, Kyphosis, Abnormal rib... |
ORPHA:2522 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Sensorineural hearing impairm... |
ORPHA:2326 |
Kniest Dysplasia |
|
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Conductiv... |
OMIM:156550 |
Simpson-Golabi-Behmel Syndrome |
|
Bundle branch block, Congenital hip dislocation, Polyhydramnios, Short neck, Accelerated skeletal... |
ORPHA:373 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemiver... |
OMIM:271520 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation |
OMIM:300982 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Anteriorly placed anus, Holoprosencephaly, Neonatal death, Syndactyly, Mesoaxial f... |
OMIM:146510 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:255320 |
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... |
ORPHA:753 |
Thanatophoric Dysplasia, Type I |
|
Champagne cork sign, Polyhydramnios, Short neck, Femoral bowing, Narrow chest, Neonatal death, Sm... |
OMIM:187600 |
Partial Atrioventricular Septal Defect |
|
Transient ischemic attack, Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
Achondrogenesis Type 2 |
|
Pulmonary hypoplasia |
ORPHA:93296 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol... |
ORPHA:166011 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:2204 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI, Sensorineural hearing impairment, Mesoaxial hand polydactyly, Pectus car... |
OMIM:618763 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Bowing of the legs, Short neck, Metaphyseal wideni... |
OMIM:255800 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Hydrocephalus, Abnormal rib morphology, Hemiverteb... |
ORPHA:2180 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Abnormality of cartilage of external ear, Double outlet right ventricl... |
ORPHA:3426 |
Apert Syndrome |
|
Delayed epiphyseal ossification, Cutaneous finger syndactyly, Chronic otitis media, Broad distal ... |
OMIM:101200 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, ... |
ORPHA:280 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Anteriorly placed anus, High palate, Conductive hear... |
OMIM:218600 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Masa Syndrome |
|
Camptodactyly of finger, Gait disturbance, Clinodactyly of the 5th finger, Agenesis of corpus cal... |
ORPHA:2466 |
Waardenburg Syndrome Type 1 |
|
Ptosis, Telecanthus, White eyelashes, Aganglionic megacolon, White eyebrow, Spina bifida, Congeni... |
ORPHA:894 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Gait ataxia, Progressive microcephaly, Hypoplasia of the corpus callosum, Dysph... |
OMIM:617862 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal pinna morphology, De... |
ORPHA:477817 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Pulmonary hypoplasia |
ORPHA:1486 |
Iniencephaly |
|
Encephalocele, Omphalocele, Rocker bottom foot, Spina bifida, Hyperlordosis, Polyhydramnios, Cong... |
ORPHA:63259 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Diastasis recti, Polyhydramnios, Large placenta, Coat hanger sign of ribs, Umbilical... |
ORPHA:254534 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Overriding aorta, Abnormal aortic arch morphology, Arterioveno... |
ORPHA:1110 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Polyhydramnios, Beaded ribs, Short neck, Multiple prenatal fractures, Flexion contrac... |
OMIM:616897 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atriu... |
OMIM:601186 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Inability to walk, Dysplastic corpus callosum, Ataxia, Microcephaly |
OMIM:618276 |
Spermatogenic Failure 15 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:616950 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum |
ORPHA:63260 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements |
OMIM:616939 |
Thanatophoric Dysplasia, Type Ii |
|
Decreased fetal movement, Small abnormally formed scapulae, Polyhydramnios, Hypoplastic ilia, Wid... |
OMIM:187601 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Posteriorly rotated ears, Pate... |
OMIM:619657 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
High palate, Conductive hearing impairment, Thickened helices, Clinodactyly of the 5th finger, Ag... |
OMIM:607872 |
Kbg Syndrome |
|
Syndactyly, Vertebral fusion, Posteriorly rotated ears, Short neck, Delayed skeletal maturation, ... |
OMIM:148050 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed calcaneal ossification, ... |
OMIM:183900 |
Aplasia Cutis Congenita |
|
Facial palsy, Spinal dysraphism |
ORPHA:1114 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Anterior rib cupping, Hyperlordosis, ... |
OMIM:184250 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Papilledema, Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involvin... |
ORPHA:371428 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Aplastic clavicle, Postaxial polydactyly, Short neck, Polyhydramnio... |
OMIM:616546 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Short neck, Abnormal rib morphology, ... |
ORPHA:1703 |
Thanatophoric Dysplasia |
|
Hearing impairment, Polyhydramnios, Joint stiffness, Abnormal sacroiliac joint morphology, Hydroc... |
ORPHA:2655 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Cleidocranial Dysplasia, Recessive Form |
|
Severe short stature, Brachycephaly |
OMIM:216330 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... |
ORPHA:185 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Attached earlobe, Low-set, posteriorly rotated ears, Epicanthus, Telecanthus, Spina bifida, Highl... |
ORPHA:1327 |
Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Hydrocephalus, Tetralogy of Fallot,... |
ORPHA:1926 |
Alg3-Cdg |
|
Abnormal pinna morphology, Coarctation of the descending aortic arch, Cardiomyopathy, Neural tube... |
ORPHA:79321 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Serkal Syndrome |
|
Pulmonary hypoplasia |
ORPHA:139466 |
Diprosopus |
|
External ear malformation, Anencephaly, Cleft palate, Abnormality of the nose |
ORPHA:1681 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Optic atrophy, Double outlet right ventricle, Coarctati... |
OMIM:618164 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Abnormal pinna morphology, Short neck, Sensorineural hearing impairment, Cleft palate, Fused cerv... |
OMIM:214300 |
Pyle Disease |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Persistence of primary teeth, Abnormal thorax m... |
OMIM:265900 |
Spondylosis, Cervical |
|
Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis |
OMIM:184300 |
Mckusick-Kaufman Syndrome |
|
Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Vesicovaginal ... |
OMIM:236700 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... |
OMIM:272460 |
Chromosome 10Q26 Deletion Syndrome |
|
Omphalocele, Scapular winging, Congenital hip dislocation, Toe syndactyly, Sandal gap, Lumbar hyp... |
OMIM:609625 |
Slc35A2-Cdg |
|
Thickened nuchal skin fold, Osteopenia, Cerebellar atrophy, Limb joint contracture, Camptodactyly... |
ORPHA:356961 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Anterior creases of earlobe, Hypoplastic left heart, Transposition of ... |
ORPHA:1727 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Femoral hernia, Polyhydramnios, Short neck, Abnormal enchondral ossif... |
ORPHA:93298 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
Miller-Dieker Syndrome |
|
Clinodactyly of the 5th finger, Sacral dimple, Omphalocele, Polyhydramnios |
ORPHA:531 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Cog1-Cdg |
|
Low-set, posteriorly rotated ears, Irregularity of vertebral bodies, Osteopenia, Cerebellar vermi... |
ORPHA:263508 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... |
OMIM:300614 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Macrotia, Bilateral cleft lip and palate |
OMIM:600776 |
Mucopolysaccharidosis, Type Iiia |
|
Inguinal hernia, Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Asymmetric septa... |
OMIM:252900 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Conductive hearing impai... |
OMIM:150250 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Absent rad... |
OMIM:171480 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Cerebellar atrophy, Short humerus, Nuchal cord, Short femur, Tapered finger, Lateral ventricle di... |
OMIM:618367 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Hydrops fetalis... |
OMIM:253220 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Bilobed right lung, Anencephaly, Pulmonary hypoplasia |
OMIM:612284 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Inguinal hernia, Posteriorly rotated ears, Kyphosis, Pectus carinatum, Reduced bone mineral densi... |
OMIM:618392 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Arachnodactyly, Posteriorly rotated ears, Polyhydramnios, Missing ribs, Premature birth, Aplasia/... |
ORPHA:2759 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Optic atrophy, Abnormal rib morphology, Conductive hearing impairment,... |
ORPHA:1513 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Bilateral lung agenesis |
OMIM:601612 |
1P36 Deletion Syndrome |
|
Conductive hearing impairment, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Abnor... |
ORPHA:1606 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... |
OMIM:271650 |
Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp... |
ORPHA:93304 |
Pentalogy Of Cantrell |
|
Encephalocele, Omphalocele, Congenital diaphragmatic hernia, Abnormal tibia morphology, Split han... |
ORPHA:1335 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Pulmonary hypoplasia |
OMIM:236500 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Cerebellar atrophy, Vertebral fusion, Facial palsy, Elbow contracture, Hyperlordosis, Kyphosis, A... |
OMIM:606612 |
Osteogenesis Imperfecta, Type Xiii |
|
Femoral bowing, Pectus carinatum, Enlarged thorax, Protruding ear, Reduced bone mineral density, ... |
OMIM:614856 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Attention defi... |
OMIM:608716 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Hemivertebrae, Dysplastic sacrum, Humeroradial s... |
OMIM:134780 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Microcephaly, Hydrocephalus, Optic atrophy,... |
OMIM:619470 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Thoracolumbar scoliosi... |
OMIM:313420 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde... |
ORPHA:1159 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
Melnick-Needles Syndrome |
|
Anterior concavity of thoracic vertebrae, Tibial bowing, Narrow chest, Cone-shaped epiphyses of t... |
OMIM:309350 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Abnormal atrial arrangement, Situs inversus totalis, Hydrocephalus, Anoma... |
ORPHA:244 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Short neck, Increased inte... |
OMIM:256050 |
Gaucher Disease, Type Ii |
|
Double aortic arch |
OMIM:230900 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Thickened nuchal skin fold, Vertebral fusion, Vaginal hernia, Abnormal dental enamel morphology, ... |
ORPHA:2916 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology |
ORPHA:488635 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal widening, Cox... |
OMIM:608940 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffn... |
ORPHA:1801 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia |
OMIM:108420 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Osteoarthritis, Limitation of joint mobility, Short metatarsal, Abnormal rib mo... |
ORPHA:93351 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa... |
OMIM:305600 |
Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
Pelvis-Shoulder Dysplasia |
|
Waddling gait, Syndactyly, Ambiguous genitalia, Aplasia/Hypoplasia of the ribs, Abnormal pinna mo... |
ORPHA:2839 |
Trigonocephaly 1 |
|
Omphalocele, Craniosynostosis, High, narrow palate, Lumbar hemivertebrae, Metopic synostosis, Mec... |
OMIM:190440 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Short neck, Delayed epiphyseal ossification, Narrow chest, Death in childhood, Dysplastic sacrum,... |
OMIM:613320 |
Greenberg Dysplasia |
|
Polyhydramnios, Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral densit... |
OMIM:215140 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ... |
ORPHA:99642 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Primary amenorrhea... |
ORPHA:168563 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Tetralogy of Fallot, Protruding ear, Abnormal aortic morphology, Abnor... |
ORPHA:1166 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... |
OMIM:300232 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the lungs, Hydranencephaly, Holoprosencephaly, Abnormal pleura morphology |
ORPHA:2570 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Conductive he... |
ORPHA:3082 |
Episodic Ataxia Type 4 |
|
Abnormal head movements, Vertigo, Ataxia |
ORPHA:79136 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm |
ORPHA:168555 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Wildervanck Syndrome |
|
Facial palsy, Short neck, Congenital sensorineural hearing impairment, Meningocele, Fused cervica... |
ORPHA:3456 |
Donnai-Barrow Syndrome |
|
Omphalocele, Posteriorly rotated ears, Intestinal malrotation, Congenital diaphragmatic hernia, W... |
ORPHA:2143 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Posteriorly rotated ears, Patent ductus arteriosus, Ventricular septal defect, Low-set ears |
OMIM:619717 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia |
OMIM:232700 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Optic nerve aplasia, Optic nerve hypoplasia, Missing ribs, Esophageal atresia, ... |
OMIM:206900 |
C Syndrome |
|
Omphalocele, Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Posteriorly ro... |
OMIM:211750 |
Agnathia-Otocephaly Complex |
|
Holoprosencephaly, Pulmonary hypoplasia |
OMIM:202650 |
Cardiospondylocarpofacial Syndrome |
|
Congenital diaphragmatic hernia, Pseudoepiphyses, Conductive hearing impairment, Joint laxity, De... |
OMIM:157800 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G... |
OMIM:619636 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Mixed hearing impairment, Posteriorly rotate... |
ORPHA:97360 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Accelerated skeletal maturation, Irregular vertebral endplates, Knee dislocation, High palate, Am... |
OMIM:618363 |
1Q41Q42 Microdeletion Syndrome |
|
Holoprosencephaly, Pulmonary hypoplasia |
ORPHA:250999 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... |
OMIM:603546 |
Autosomal Recessive Amelia |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:1027 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Brachydactyly, Aganglionic megacolon, Ataxia, Postaxial polydactyly, Postaxial hand p... |
OMIM:209900 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Abnormal head movements, Hyperactivity, Self-biting, Recurrent hand... |
OMIM:300624 |
Anencephaly 2 |
|
Anencephaly, Bifid nose, Median cleft palate |
OMIM:619452 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Aganglionic megac... |
ORPHA:220493 |
3Mc Syndrome 1 |
|
Omphalocele, Conjunctival telangiectasia, Sacral dimple, Single interphalangeal crease of fifth f... |
OMIM:257920 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Decreased nerve conduction velocity, Aortic roo... |
OMIM:616652 |
Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, High ... |
OMIM:305620 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ataxia, Aggressive behavior, Microcephaly, Chorea, Falls, Inappropriate laughter, Bruxism, Abnorm... |
OMIM:619150 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Dentin... |
OMIM:259440 |
Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... |
OMIM:177170 |
Frontometaphyseal Dysplasia |
|
Limited elbow movement, Metaphyseal widening, Short metatarsal, Sprengel anomaly, Conductive hear... |
ORPHA:1826 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Camptodactyly of finger, Missing ribs |
ORPHA:1759 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Matthew-Wood Syndrome |
|
Abnormal lung morphology, Pulmonary hypoplasia |
ORPHA:2470 |
Achondroplasia |
|
Limited hip extension, Polyhydramnios, Bowing of the legs, Generalized joint laxity, Femoral bowi... |
OMIM:100800 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Zttk Syndrome |
|
Flexion contracture, Hemivertebrae, Protruding ear, High palate, Bifid uvula, Rib fusion, Low-set... |
OMIM:617140 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... |
OMIM:303110 |
Parietal Foramina 1 |
|
Parietal foramina, Encephalocele, Cleft palate, Cleft upper lip |
OMIM:168500 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... |
OMIM:271630 |
17Q21.31 Microduplication Syndrome |
|
High palate, Short nose, Anteverted nares |
ORPHA:217340 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Lethal Osteosclerotic Bone Dysplasia |
|
Posteriorly rotated ears, Anteverted nares, Depressed nasal ridge, Low-set ears, Intrauterine gro... |
ORPHA:1832 |
Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Multiple rib fractures, Femoral hernia, Recurrent fractures, Polyhydr... |
ORPHA:93299 |
Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Hypoplasia of the pons, Thin ribs, Platyspondyly, Bowing of limbs due to mul... |
OMIM:615220 |
Cleidocranial Dysplasia |
|
High, narrow palate, Coxa vara, Glossoptosis, Narrow chest, Hypoplastic inferior ilia, Clinodacty... |
ORPHA:1452 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... |
ORPHA:163665 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Depressed nasal ridge, Cleft palate, Low-set ears, Short ... |
OMIM:613885 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation |
OMIM:618266 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Proximal f... |
OMIM:609324 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Wolf-Hirschhorn Syndrome |
|
Abnormal form of the vertebral bodies, Conductive hearing impairment, Intrauterine growth retarda... |
OMIM:194190 |
Charge Syndrome |
|
Polyhydramnios, Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Hypoplasia of the ... |
ORPHA:138 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis, Hearing impairment |
ORPHA:251076 |
Czeizel-Losonci Syndrome |
|
Spina bifida, Hydrocephalus, Myelomeningocele, Pulmonary hypoplasia, Spina bifida occulta |
ORPHA:2437 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Ovoid vertebral bodies, Bowing of... |
OMIM:608728 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele, Death in infancy, Hydrocephalus, Cleft palate, Bifid uvula |
OMIM:258320 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... |
OMIM:184252 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Polyhydramnios, Short neck, Narrow chest, Radial bowing, Dumbbell-shaped long bone, Flat acetabul... |
OMIM:151210 |
Achondrogenesis, Type Ib |
|
Inguinal hernia, Polyhydramnios, Hypoplastic ilia, Breech presentation, Hydrops fetalis, Stillbir... |
OMIM:600972 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Postnatal growth retardation, Thick lower lip vermilion, Brachycephaly, Wide mouth, Thick upper l... |
OMIM:309545 |
Developmental And Epileptic Encephalopathy 89 |
|
Omphalocele, Cerebellar atrophy, Asymmetry of the ears, Flexion contracture, Cleft palate, Death ... |
OMIM:619124 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Pneumothorax, Abnormal pulmonary artery morphology, Pulmonary h... |
ORPHA:2257 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Masa Syndrome |
|
Microcephaly, Hydrocephalus, Shuffling gait, Agenesis of corpus callosum, Ventriculomegaly, Adduc... |
OMIM:303350 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Papilledema, Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteoscl... |
OMIM:122860 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Bilateral lung agenesis, Pulmonary artery stenosis, Congenital pulmonary airway malformation, Pul... |
OMIM:611812 |
Fetal Minoxidil Syndrome |
|
Low-set, posteriorly rotated ears, Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
Tonne-Kalscheuer Syndrome |
|
Pulmonary hypoplasia |
OMIM:300978 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation |
OMIM:616816 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality o... |
ORPHA:3186 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Pulmonary hypoplasia |
OMIM:224410 |
Congenital Vertical Talus |
|
Myelomeningocele, Rocker bottom foot, Equinus calcaneus |
ORPHA:178382 |
Nephronophthisis 2 |
|
Pulmonary hypoplasia |
OMIM:602088 |
Cartilage-Hair Hypoplasia |
|
Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Heart block, Abnormal ... |
ORPHA:175 |
Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Tetralogy of Fallot, Low-set ears |
ORPHA:1919 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Short neck, Pectus carinatum, Reduced bone mineral density, Hernia, Abnormal d... |
ORPHA:582 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Coarctation of aorta... |
ORPHA:980 |
Pericardial And Diaphragmatic Defect |
|
Pulmonary hypoplasia, Pulmonary sequestration |
ORPHA:2847 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Short nose, Spina bifida occulta |
ORPHA:1514 |
Brachyolmia, Maroteaux Type |
|
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis |
ORPHA:93302 |
Gorlin Syndrome |
|
Vertebral fusion, Arachnodactyly, Hydrocephalus, Hemivertebrae, Vertebral wedging, Scoliosis, Bra... |
ORPHA:377 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck, Hearing impairment |
ORPHA:2578 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
Meacham Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Abnormal fallopian tube morphology, Ambigu... |
ORPHA:3097 |
Odontochondrodysplasia 1 |
|
Genu recurvatum, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx of finger, G... |
OMIM:184260 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Chiar... |
OMIM:182212 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Thoracic scoliosis, Abnormal odontoid process morphology, Abnormal midbrain morpho... |
ORPHA:314621 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... |
ORPHA:2319 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Recurrent fractures, Abnormal rib morphology, Joint hyperflexi... |
ORPHA:2772 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Aganglionic megac... |
ORPHA:220497 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Oeis Complex |
|
11 pairs of ribs, Absence of the sacrum, Omphalocele, Congenital hip dislocation, Intestinal malr... |
OMIM:258040 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Cryptorchidism, Postaxial hand polydactyly, Abnormality of the uterus, Low-set ears, Abnormal fal... |
ORPHA:1655 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Stiff neck, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Joint stiffness, Vertebral wedging, Pla... |
OMIM:616583 |
Rhiny |
|
Short nose, Anteverted nares |
OMIM:180360 |
Holoprosencephaly |
|
Congenital diaphragmatic hernia, Short neck, Abnormal form of the vertebral bodies, Holoprosencep... |
ORPHA:2162 |
Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Thickened nuchal skin fold, Thickened helices, Pectus excavatu... |
ORPHA:648 |
Codas Syndrome |
|
Congenital hip dislocation, Proximal placement of thumb, Polyhydramnios, Generalized joint laxity... |
OMIM:600373 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
Joubert Syndrome 7 |
|
Encephalocele, Brainstem dysplasia, Postaxial polydactyly, Postaxial hand polydactyly, Genu valgu... |
OMIM:611560 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Anteverted nares, Prominent nasal bridge, Hydrocephalus, High palate, Short nose, Macrotia |
OMIM:300558 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Increased intervertebral space, Hypoplastic vertebral bodies,... |
OMIM:224300 |
Polymicrogyria Due To Tubb2B Mutation |
|
Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po... |
ORPHA:300573 |
Thrombocytopenia-Absent Radius Syndrome |
|
Clinodactyly of the 5th finger, Phocomelia, Genu varum, Low-set, posteriorly rotated ears, Finger... |
ORPHA:3320 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Abnormal dental enamel morphology, Pectus excavatum, Kyphosis, ... |
ORPHA:96169 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Inguinal hernia, Coxa valga, Osteoporosis, Finger clinodactyly, Patellar subluxation, Supernumera... |
ORPHA:2958 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Poste... |
OMIM:600325 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica... |
ORPHA:1426 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c... |
OMIM:109730 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly, Pulmonary hypoplasia |
OMIM:313850 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Short neck, Lobulated tongue, Molar tooth sign on MRI, Agenesis of corpu... |
OMIM:249000 |
Caudal Regression Syndrome |
|
Missing ribs, Joint stiffness, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, ... |
ORPHA:3027 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Premature birth, Nonimmune hydrops fetalis, Recurrent frac... |
OMIM:166210 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal pinna morphology, Abnormal heart morphology, Coarctation of a... |
ORPHA:261183 |
Ogden Syndrome |
|
Abnormal head movements, Broad hallux, Cryptorchidism, Cerebral atrophy, Shuffling gait, Low-set ... |
ORPHA:276432 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Posteriorly rotated ear... |
OMIM:612946 |
Distal Triplication 15Q |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Cupped ear, Sensorineural hearing impairment, ... |
ORPHA:314588 |
Chromosome 9P Deletion Syndrome |
|
Long toe, Omphalocele, Inguinal hernia, Sandal gap, Posteriorly rotated ears, Hallux varus, Taper... |
OMIM:158170 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Short nose, High palate |
OMIM:300577 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Huntington Disease-Like 3 |
|
Abnormal head movements, Caudate atrophy, Broad-based gait, Chorea, Progressive gait ataxia, Cere... |
ORPHA:157946 |
Gómez-López-Hernández Syndrome |
|
Turricephaly, Short stature, Hydrocephalus, Brachycephaly, Thin vermilion border, Midface retrusion |
ORPHA:1532 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Omphalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand poly... |
OMIM:603194 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Inability to walk, 2-3 toe syndactyly, Abnormal cerebral white matter m... |
OMIM:613443 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:1046 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Agyria, Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Hy... |
ORPHA:171680 |
7Q31 Microdeletion Syndrome |
|
Hypoplasia of the cochlea, Delayed skeletal maturation, Clinodactyly of the 2nd finger, Hypoplasi... |
ORPHA:251061 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... |
OMIM:617405 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Agenesis of cerebellar vermis, Hydrocepha... |
ORPHA:163961 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Polyhydramnios, Short thorax, Abnormal carpal mor... |
ORPHA:85166 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... |
ORPHA:2209 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Inguinal hernia, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Congenital ... |
OMIM:618454 |
Fryns Syndrome |
|
Proximal placement of thumb, Short neck, Polyhydramnios, Prominent fingertip pads, Broad ribs, Ag... |
OMIM:229850 |
Arnold-Chiari Malformation Type I |
|
Functional abnormality of the inner ear, Stiff neck, Myelopathy, Vertigo, Cranial nerve compressi... |
ORPHA:268882 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Abnormal lung lobation, Pulmonary hypoplasia |
OMIM:615415 |
Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Omphalocele, Cleft palate, Abnormal rib cage morphology, Hand polydact... |
OMIM:217100 |
Aminopterin/Methotrexate Embryofetopathy |
|
Low-set, posteriorly rotated ears, Encephalocele, Ventricular septal defect, Situs inversus total... |
ORPHA:1908 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Tibial bowing, Lobulated tongue, High palate, Conductive hearing im... |
OMIM:277170 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Omphalocele, Congenital hip dislocation, Delayed skeletal maturation, ... |
OMIM:614450 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Aganglionic megac... |
ORPHA:2318 |
Fryns Syndrome |
|
Low-set, posteriorly rotated ears, Omphalocele, Thickened nuchal skin fold, Aganglionic megacolon... |
ORPHA:2059 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia, Hyperinsulinemia, Hyperglycemia |
ORPHA:329249 |
Joubert Syndrome 14 |
|
Encephalocele, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Agenesis of cerebellar ver... |
OMIM:614424 |
Trisomy 13 |
|
Kyphosis, Postaxial hand polydactyly, Sensorineural hearing impairment, Abnormal rib morphology, ... |
ORPHA:3378 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Premature ovarian insufficiency, Ataxia, Leukoencephalopathy, Lateral ventricle dilatation, Progr... |
OMIM:615889 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... |
OMIM:618736 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Hearing impairment, Abnormality of ... |
ORPHA:1856 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Polyhydramnios, Short neck, ... |
ORPHA:2347 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Syndactyly, Brachydactyly, Lumbar hyperlordosis, Inguinal hernia, Ovoid vertebral b... |
OMIM:619451 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Increased intervertebral space, Thoracic platyspondyly, Met... |
OMIM:618961 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Umbilical hernia, Macroglossia, Wide anterior fontanel |
OMIM:275100 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... |
ORPHA:449400 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... |
OMIM:618728 |
Usher Syndrome Type 1 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231169 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Delayed skeletal maturation, Reduced bone mineral dens... |
OMIM:617974 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele, Depressed nasal ridge, Absent nasal septal cartilage, Bilateral cleft lip and palate... |
ORPHA:2003 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Vertebral fusion, Inguinal hernia, Posteriorly rotated ears, Down-sloping shoulders, ... |
OMIM:227330 |
Koolen-De Vries Syndrome |
|
Anteverted ears, High palate, Prominent fingertip pads, Vertebral fusion, Prominent metopic ridge... |
OMIM:610443 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Hydrocephalus, Optic atrophy, Diaphysea... |
OMIM:618476 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Holoprosencephaly, Bifid uvula, Low-set, posteriorly rotated ears, Mesoaxial polyd... |
ORPHA:672 |
Cantu Syndrome |
|
Broad hallux, Ovoid vertebral bodies, Short hallux, Coxa valga, Short neck, Metaphyseal widening,... |
OMIM:239850 |
Fetal Akinesia Deformation Sequence |
|
Pulmonary hypoplasia |
ORPHA:994 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Abnormal tibia morphology, Flexion contracture, Bone pain, Abnorma... |
ORPHA:666 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Short neck, Cleft palate, Clinodactyly of the 5th finger,... |
OMIM:244600 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Congenital diaphragmatic hernia, Short neck, Accelerated skeletal maturation, Multipl... |
OMIM:245600 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Tapered finger, Short neck, Multiple joint dislocation, Hip... |
OMIM:618395 |
Non-Distal Duplication 10Q |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, High palate, Short nose, Convex nasal ... |
ORPHA:1695 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Short stature, Brachycephaly, Growth delay, High palate, Narrow mouth |
ORPHA:2528 |
Gorham-Stout Disease |
|
Osteopenia, Abnormal pelvis bone morphology, Osteomyelitis, Osteolysis involving bones of the upp... |
ORPHA:73 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... |
OMIM:194072 |
Lateral Meningocele Syndrome |
|
Short neck, High, narrow palate, Abnormal form of the vertebral bodies, High palate, Conductive h... |
ORPHA:2789 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... |
OMIM:223800 |
3M Syndrome |
|
Congenital hip dislocation, Short neck, Increased vertebral height, Protruding ear, Enlarged thor... |
ORPHA:2616 |
Maxillonasal Dysplasia, Binder Type |
|
Large earlobe, Short nose, Short columella, Depressed nasal bridge |
OMIM:155050 |
Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular ... |
ORPHA:229 |
Fountain Syndrome |
|
Epicanthus, Spina bifida, Sensorineural hearing impairment, Synophrys, Spina bifida occulta, Thic... |
ORPHA:3219 |
Joubert Syndrome 10 |
|
Low-set ears, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Postaxial polydactyly |
OMIM:300804 |
Fibrochondrogenesis 2 |
|
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... |
OMIM:614524 |
Holzgreve Syndrome |
|
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Abnormal morphology of ulna, Ap... |
ORPHA:2167 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
Ring Chromosome 8 Syndrome |
|
Short nose, Anteverted nares, Round ear |
ORPHA:1450 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Short nose, Anteverted nares |
ORPHA:1355 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
Martsolf Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619420 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... |
ORPHA:1517 |
Achondrogenesis |
|
Aplasia/Hypoplasia of the lungs, Umbilical hernia |
ORPHA:932 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate, Craniosynostosis, Intrauterine growth retardation |
OMIM:600252 |
Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Limitation of joint... |
ORPHA:2619 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Pectus excavatum, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Fus... |
OMIM:619227 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Pagod Syndrome |
|
Encephalocele, Abnormal clavicle morphology, Omphalocele, Death in infancy, Spina bifida, Congeni... |
ORPHA:991 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Orofaciodigital Syndrome Xv |
|
Cerebellar vermis hypoplasia, Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of... |
OMIM:617127 |
Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms, Jerky head movements |
ORPHA:98807 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del... |
ORPHA:85198 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kyphosis, Hydrocephalus,... |
OMIM:616294 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Sialidosis Type 2 |
|
Inguinal hernia, Kyphosis, Short thorax, Flexion contracture, Hydrops fetalis, Osteoporosis, Pect... |
ORPHA:87876 |
Arthrogryposis, Distal, Type 2A |
|
Joint dislocation, Polyhydramnios, Short neck, Knee flexion contracture, Hypoplasia of the brains... |
OMIM:193700 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Bifid distal phalanx of the thumb, Triangular shaped distal phalanx of the thumb, ... |
ORPHA:370010 |
Amish Lethal Microcephaly |
|
Spina bifida, Microcephaly, Optic atrophy, Lissencephaly, Agenesis of corpus callosum, Ventriculo... |
ORPHA:99742 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Short neck, Generalized joint laxity, Abnormal optic disc morphology, Thoraci... |
ORPHA:508498 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... |
OMIM:251450 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Cutaneous finger syndactyly, Conductive hearing impairment, Micr... |
OMIM:219000 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Wormian bones, R... |
OMIM:616229 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:618913 |
Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, Vertebral segmentation defect, High palate, Agenesis of corpus c... |
ORPHA:2745 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Abnormality of ... |
ORPHA:457395 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Vaginal fistula |
ORPHA:2597 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Epiphyseal dysplasia, Enlarged epiphyses, Sensorineural hearing impairment, Premature osteoarthri... |
OMIM:184840 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Glossoptosis, Barrel... |
ORPHA:94068 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Hea... |
ORPHA:3258 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydrocephalus, Pulmonary hypoplasia |
OMIM:314390 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Polyhydramnios, Beaded ribs, Bowing of the legs, Short ne... |
OMIM:200600 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Short neck, Hernia, Abnormal nerve conduction velocity, Abnormal ve... |
ORPHA:93473 |
Severe Congenital Nemaline Myopathy |
|
Pulmonary hypoplasia |
ORPHA:171430 |
14Q11.2 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... |
OMIM:259450 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Sacrococcygeal pilonidal abnormality, Hip dislocation, Slender long bone, Hypoplastic pelvis, Spi... |
ORPHA:2840 |
Alagille Syndrome |
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Hypoplasia of the ulna, Telangiectasia of the skin, Delayed skeletal maturation, Abnormal rib mor... |
ORPHA:52 |
Smith-Mccort Dysplasia 1 |
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Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre... |
OMIM:607326 |
Myhre Syndrome |
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Short neck, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Short toe, 2-3 toe syndactyly, ... |
OMIM:139210 |
Thanatophoric Dysplasia Type 1 |
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Bowing of the long bones, Short femur, Hearing impairment, Polyhydramnios, Hypoplastic ilia, Abno... |
ORPHA:1860 |
Odontochondrodysplasia |
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Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Coxa valga, Cone-shaped ep... |
ORPHA:166272 |
Vitreoretinal Degeneration, Snowflake Type |
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Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Joubert Syndrome 37 |
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Prominent metopic ridge, Lumbar hyperlordosis, Posteriorly rotated ears, Cerebellar vermis hypopl... |
OMIM:619185 |
Duane Retraction Syndrome |
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Aplasia/Hypoplasia of the thumb, Narrow internal auditory canal, Hearing impairment, Short neck, ... |
ORPHA:233 |
Shprintzen-Goldberg Syndrome |
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Communicating hydrocephalus, Osteopenia, High, narrow palate, Abnormal form of the vertebral bodi... |
ORPHA:2462 |
Cardiac Valvular Dysplasia 1 |
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Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val... |
OMIM:212093 |
Cloacal Exstrophy |
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Omphalocele, Intestinal malrotation, Spina bifida, Myelomeningocele, Abnormal tibia morphology, H... |
ORPHA:93929 |
Osteoarthritis With Mild Chondrodysplasia |
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Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla... |
OMIM:604864 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
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Increased bone mineral density, Ovoid vertebral bodies, Coxa valga, Short neck, Wide anterior fon... |
ORPHA:163649 |
Joint Laxity, Short Stature, And Myopia |
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Inguinal hernia, Cervical kyphosis, Kyphoscoliosis, Multiple joint dislocation, Pectus carinatum,... |
OMIM:617662 |
Emanuel Syndrome |
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Congenital hip dislocation, Multiple joint contractures, Congenital diaphragmatic hernia, High pa... |
ORPHA:96170 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
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Abnormal rib morphology, Cleft palate, Abnormality of the vertebral column, Conductive hearing im... |
OMIM:601076 |
Hyperproinsulinemia |
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Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Trisomy 20P |
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Short neck, Abnormal form of the vertebral bodies, Protruding ear, Reduced bone mineral density, ... |
ORPHA:261318 |
Cole-Carpenter Syndrome |
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Delayed eruption of teeth, Communicating hydrocephalus, Crumpled long bones, Bowing of the long b... |
ORPHA:2050 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
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Thoracolumbar scoliosis, Short neck, Flexion contracture, Cardiomyopathy, High palate, Low-set ea... |
OMIM:616549 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
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Multifocal hyperintensity of cerebral white matter on MRI, Aggressive behavior, Dysplastic corpus... |
ORPHA:488627 |
Diabetes Mellitus, Permanent Neonatal, 4 |
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Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
Adenylosuccinate Lyase Deficiency |
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Short nose, Anteverted nares, Low-set ears |
ORPHA:46 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Polyhydramnios, Posterior rib fusion, Neonatal death, Nonimmune hydrops fetalis, Esophageal atres... |
OMIM:265380 |
Heart And Brain Malformation Syndrome |
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Attached earlobe, Ventricular septal defect, Posteriorly rotated ears, Low-set ears, Interrupted ... |
OMIM:616920 |
Mesoaxial Hexadactyly And Cardiac Malformation |
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Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Exudative Vitreoretinopathy 2, X-Linked |
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Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Monosomy 9Q22.3 |
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Delayed eruption of teeth, Short neck, Pectus excavatum, Kyphosis, Hydrocephalus, Accelerated ske... |
ORPHA:77301 |
Megabladder, Congenital |
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Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Paroxysmal atrial fibrillation, First degree atrioventricular block... |
ORPHA:392 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared metaphysis, De... |
OMIM:602111 |
Maturity-Onset Diabetes Of The Young, Type 13 |
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Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Chand Syndrome |
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Imperforate hymen |
ORPHA:1401 |
3C Syndrome |
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Short neck, High, narrow palate, Hemivertebrae, Aplasia/Hypoplasia of the cerebellum, Dandy-Walke... |
ORPHA:7 |
Mullerian Aplasia And Hyperandrogenism |
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Abnormal external genitalia, Primary amenorrhea, Aplasia of the vagina, Aplasia of the fallopian ... |
OMIM:158330 |
Fetal Trimethadione Syndrome |
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Ventricular septal defect, Transposition of the great arteries, Low-set ears, Abnormal helix morp... |
ORPHA:1913 |
20Q13.33 Microdeletion Syndrome |
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Low-set, posteriorly rotated ears, Dilation of Virchow-Robin spaces, Prominent crus of helix, Abn... |
ORPHA:261311 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
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Bradykinesia, Somatic sensory dysfunction, Jerky head movements, Dysphagia |
ORPHA:240103 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
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Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Pulmonary hypoplasia |
ORPHA:86822 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Pect... |
ORPHA:2911 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic il... |
OMIM:169550 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
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Craniofacial hyperostosis, Abnormal pinna morphology, Facial palsy, Hyperlordosis, Delayed skelet... |
ORPHA:3068 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Hypophosphatasia, Infantile |
|
Death in infancy, Polyhydramnios, Bowing of the legs, Craniosynostosis, Vertebral clefting, Incre... |
OMIM:241500 |
Sifrim-Hitz-Weiss Syndrome |
|
Tapered finger, Cupped ear, Flat acetabular roof, Anteriorly placed anus, Fused cervical vertebra... |
OMIM:617159 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
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Caudate atrophy, Aggressive behavior, Basal ganglia calcification, Cerebral atrophy, Leukoencepha... |
OMIM:221770 |
Orofacial Cleft 5 |
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Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Orofacial Cleft 1 |
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Cleft palate, Cleft upper lip |
OMIM:119530 |
Spermatogenic Failure 28 |
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Non-obstructive azoospermia, Decreased testicular size, Male infertility |
OMIM:618086 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Familial Spontaneous Pneumothorax |
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Pneumothorax, Abnormal pleura morphology |
ORPHA:2903 |
Androgen Insensitivity Syndrome |
|
Female external genitalia in individual with 46,XY karyotype, Blind vagina, Primary amenorrhea, L... |
OMIM:300068 |
Schwartz-Jampel Syndrome |
|
Polyhydramnios, Short neck, Coxa vara, Pectus carinatum, High palate, Wrist flexion contracture, ... |
ORPHA:800 |
Gm1 Gangliosidosis Type 1 |
|
Spatulate ribs, Macrotia, Hydrops fetalis, Pectus carinatum, Hypoplastic vertebral bodies, Abnorm... |
ORPHA:79255 |
Charge Syndrome |
|
Polyhydramnios, Hemivertebrae, Hand monodactyly, Holoprosencephaly, Hypoplasia of the ulna, Facia... |
OMIM:214800 |
Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Fractures of th... |
ORPHA:319195 |
Bartsocas-Papas Syndrome 1 |
|
Short neck, Flexion contracture, Hypoplastic iliac wing, Pterygium, Short phalanx of finger, Infe... |
OMIM:263650 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Flat capital femoral epiphysis, Delayed skeletal maturation, Genu valgum, Platyspondyly, Genu varum |
OMIM:608361 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga |
OMIM:271620 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Posteriorly rotated ears, Optic nerve hypoplasia, Large earlobe, Low-s... |
OMIM:301056 |
Burn-Mckeown Syndrome |
|
Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia |
ORPHA:1200 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Kyphosis, Limited pronation/supination of forearm, Spin... |
ORPHA:1724 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Osteopenia, Thickened ribs, Short neck, Pectus carinatum, Cortical t... |
ORPHA:309282 |
Pontocerebellar Hypoplasia, Type 1A |
|
Neuronal loss in basal ganglia, Ataxia, Microcephaly, Limb ataxia, Degeneration of anterior horn ... |
OMIM:607596 |
Waardenburg Syndrome, Type 1 |
|
Telecanthus, White eyelashes, White eyebrow, Spina bifida, Congenital sensorineural hearing impai... |
OMIM:193500 |
Renal Agenesis, Bilateral |
|
Pulmonary hypoplasia, Sirenomelia |
ORPHA:1848 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... |
ORPHA:474 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis, Platyspondyly, Short thorax, Abnormal epiphysis morphology |
ORPHA:93283 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Thoracic scoliosis, Generalized joint laxity, Tibial bowing, Narrow chest, Death in c... |
OMIM:613848 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Pneumothorax, Pulmonary hypoplasia |
OMIM:620306 |
Cat-Eye Syndrome |
|
Abnormal rib morphology, Hip dysplasia, Intrauterine growth retardation, Anal atresia, Hearing im... |
ORPHA:195 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Imperforate hymen |
OMIM:100300 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Tethered cord, Hypospadias, Cryptorchidism, Hydrocele testis, Chordee, Hematocolpos, Imperforate ... |
OMIM:619522 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Posteriorly rotated ea... |
ORPHA:284169 |
Joubert Syndrome 15 |
|
Preaxial polydactyly, Exencephaly |
OMIM:614464 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Pseudopapilledema, Abnormality of the outer ear, Hearing impairment |
OMIM:314600 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Hemivertebrae, Knee flexion contracture, Anteriorly plac... |
OMIM:151050 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619278 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Underdeveloped nasal alae, Meningocele, Prot... |
ORPHA:2031 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Hearing impairment, Aplasia/Hypoplasia of the dist... |
ORPHA:1647 |
Rubinstein-Taybi Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Simple ear, Patent foramen ovale, Patent ductus arterios... |
OMIM:180849 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hemivertebrae, Protruding ear, Cerebellar hemisphere hypoplasia, Bifid uvula, Lumbar hyperlordosi... |
ORPHA:500150 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Craniosynostosis, Split hand, Abnormal rib morphology, Oligohydramnios, Cleft ... |
ORPHA:2145 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Occipital encephalocele, Flexion contracture, Cerebellar hypoplasia |
OMIM:617562 |
Frank-Ter Haar Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Genu recurvatum, Camptodactyly of finger, Joint stiff... |
ORPHA:137834 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Sensorineural hearing impairment, Abnormal aortic morphology |
ORPHA:3222 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Polyhydramnios, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibi... |
ORPHA:1427 |
Monosomy 18Q |
|
Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen... |
ORPHA:1600 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Bilateral... |
ORPHA:90797 |
Mosaic Trisomy 8 |
|
Abnormal pinna morphology, Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib mo... |
ORPHA:96061 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Chronic otitis media, Abnormal clavicle morphology, Abnormal rib morphology, Low-set ears |
ORPHA:276422 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Pectus ... |
ORPHA:958 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Humero-Radial Synostosis |
|
Aplasia/Hypoplasia of the thumb, Meningocele, Tarsal synostosis |
ORPHA:3265 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Pulmonary hypoplasia |
OMIM:616866 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeningocele, Hypopla... |
ORPHA:83628 |
Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Spina bifida occulta, Syndactyly... |
OMIM:607323 |
Craniosynostosis 6 |
|
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... |
OMIM:616602 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Omphalocele, Sacral dimple, Inguinal hernia, Posteriorly rotated ears,... |
OMIM:247200 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... |
ORPHA:50815 |
Tetraploidy |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:3305 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Aortic v... |
OMIM:619895 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... |
OMIM:271700 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Brachydactyly, Inguinal hernia, Short neck, Hyperlordosis, Short thorax, Abnormal form of the ver... |
ORPHA:3218 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Hypoplastic pubic bone, Flared me... |
ORPHA:93346 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Choreoathetosis, Ataxia, Jerky head movements, Microcephaly |
OMIM:245348 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Flexion contracture, Hypoplastic iliac wing, Short p... |
OMIM:611717 |
Lamb-Shaffer Syndrome |
|
Optic atrophy, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Low-set ears |
OMIM:618330 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
OMIM:616034 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Optic disc pallor, Hypergonadotropic hypogonadism, Dysplastic corpu... |
OMIM:619737 |
Renpenning Syndrome |
|
Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Sensorineural hearing impairment, H... |
ORPHA:3242 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Cystinosis |
|
Hypokalemia, Retinopathy, Hypophosphatemia |
ORPHA:213 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Abnormal cortical bone morphology, Abnormal rib morp... |
ORPHA:2097 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose |
OMIM:125700 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint m... |
OMIM:313400 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Omphalocele |
|
Omphalocele, Premature birth |
ORPHA:660 |
Scarf Syndrome |
|
Low-set, posteriorly rotated ears, Inguinal hernia, Diastasis recti, Craniosynostosis, Short neck... |
ORPHA:3134 |
Anauxetic Dysplasia 1 |
|
Short neck, Thoracic kyphosis, Short palm, Barrel-shaped chest, Joint laxity, Lumbar hyperlordosi... |
OMIM:607095 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Congenital hip dislocation, Facial p... |
OMIM:113650 |
Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Foot joint contracture, Abnormal midbrain morphology, Tapered finger, Hypoplasia... |
ORPHA:444072 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Low-set ears, Atrial septal defect, Patent f... |
OMIM:619189 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cerebellar vermis hypoplasia, Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology... |
OMIM:274000 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Omphalocele, Posteriorly rotated ears, Diastasis recti, Bifid distal phalanx of the thumb, Pylori... |
OMIM:618419 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Hydrocephalus, Pulmonary hypoplasia |
ORPHA:1865 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... |
OMIM:617952 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... |
ORPHA:1436 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Alobar holoprosencephal... |
OMIM:301043 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Prominent nasal bridge, Broad nasal tip, High palate, Low-set ears, Umbilical hernia, Short nose |
OMIM:613544 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
Frontofacionasal Dysplasia |
|
Encephalocele, Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, C... |
ORPHA:1791 |
Joubert Syndrome 9 |
|
Encephalocele, Molar tooth sign on MRI, Scoliosis |
OMIM:612285 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Asymmetry of the ears, Breech presentation, Sensorineural... |
OMIM:617796 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Toe syndactyly, Posteriorly rotated ears, Short neck, Sensorineural hearing impairment, Platyspon... |
OMIM:618958 |
Gm1-Gangliosidosis, Type I |
|
Death in infancy, Inguinal hernia, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Congest... |
OMIM:230500 |
Stickler Syndrome, Type I |
|
Arthropathy, Arachnodactyly, Joint stiffness, Pectus excavatum, Kyphosis, Irregular femoral epiph... |
OMIM:108300 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:2234 |
Joubert Syndrome 2 |
|
Encephalocele, Agenesis of cerebellar vermis, Brainstem dysplasia, Postaxial hand polydactyly, Hy... |
OMIM:608091 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
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Radial bowing, Intestinal malrotation, Postaxial polydactyly, Missing ribs, Hypoplastic ischia, U... |
OMIM:617866 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
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Lateral ventricle dilatation |
OMIM:618890 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
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Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... |
ORPHA:247815 |
Exudative Vitreoretinopathy 1 |
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Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Fetal Encasement Syndrome |
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Omphalocele, Decreased fetal movement, Congenital diaphragmatic hernia, Upper limb undergrowth, L... |
OMIM:613630 |
Schinzel-Giedion Syndrome |
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Abnormal clavicle morphology, Short neck, Tibial bowing, Anteriorly placed anus, Chiari type I ma... |
ORPHA:798 |
Kleefstra Syndrome 2 |
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Plagiocephaly, Growth delay, Everted lower lip vermilion, Midface retrusion, Bifid uvula |
OMIM:617768 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Lumbar h... |
ORPHA:370959 |
Diaphanospondylodysostosis |
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Absent in utero ossification of vertebral bodies, Short neck, Vertebral segmentation defect, Abse... |
OMIM:608022 |
Hydrolethalus Syndrome 2 |
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Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Cleft palate, Postaxial foot polydactyly,... |
OMIM:614120 |
Osteogenesis Imperfecta, Type V |
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Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Vertebra... |
OMIM:610967 |
Desbuquois Dysplasia 2 |
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Short neck, Metaphyseal widening, Pectus carinatum, Knee dislocation, Narrow chest, Short phalanx... |
OMIM:615777 |
Meckel Syndrome 14 |
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Occipital encephalocele, Holoprosencephaly, Pneumothorax, Pulmonary hypoplasia |
OMIM:619879 |
Foveal Hypoplasia 2 |
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Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Autosomal Recessive Stickler Syndrome |
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Epiphyseal dysplasia, Sensorineural hearing impairment, Cleft palate, Genu valgum, Irregular vert... |
ORPHA:250984 |
Ulnar-Mammary Syndrome |
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Small scrotum, Bicornuate uterus, Shawl scrotum, Micropenis, Imperforate hymen |
OMIM:181450 |
Isotretinoin Embryopathy-Like Syndrome |
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Anotia, Hydrocephalus, Microtia, Conotruncal defect |
OMIM:243440 |
Congenital Varicella Syndrome |
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Microphthalmia |
ORPHA:291 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
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11 pairs of ribs, Hip contracture, Inguinal hernia, Cerebellar atrophy, Short neck, Metatarsus ad... |
OMIM:616266 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
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Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... |
OMIM:606842 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Joint laxity, Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Flared metaphysi... |
OMIM:602557 |
Microphthalmia, Isolated, With Corectopia |
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Microphthalmia |
OMIM:156900 |
Microphthalmia-Brain Atrophy Syndrome |
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Lateral ventricle dilatation |
ORPHA:77299 |
Bardet-Biedl Syndrome 19 |
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Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
17P13.3 Microduplication Syndrome |
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Low-set ears, Wide nose, High palate, Short nose |
ORPHA:217385 |
Diabetes Mellitus, Permanent Neonatal, 1 |
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Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Bicuspid aortic valve, Ventricular septal defect, Conductive hearing impairment, Patent ductus ar... |
ORPHA:353281 |
Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Conductive hearing impairment, Low-set, posteriorly rotated e... |
ORPHA:2052 |
Pendred Syndrome |
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Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... |
ORPHA:705 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
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Hydrocephalus, Anteverted nares, Wide nasal bridge, Short nose |
OMIM:618577 |
Three M Syndrome 2 |
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Delayed eruption of teeth, Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Del... |
OMIM:612921 |
Maternal Uniparental Disomy Of Chromosome 2 |
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Respiratory infections in early life, Pulmonary hypoplasia |
ORPHA:96179 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Narrow chest, C... |
ORPHA:95699 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Osteopenia, Multiple joint contractures, Metaphyseal widening, Multiple joint dislocation, Anteri... |
ORPHA:536467 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect, Chronic otitis media, Low-set, posteriorly rotat... |
ORPHA:1388 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Low-set... |
OMIM:619910 |
Hypocalcemia, Autosomal Dominant 1 |
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Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
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Lateral ventricle dilatation |
OMIM:617668 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
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Hypophosphatemia |
OMIM:308990 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
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Anteverted nares, Depressed nasal bridge, Hydrocephalus, Short columella, Microtia, Low-set ears,... |
ORPHA:171839 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Inguinal hernia, Prominent metopic ridge, Arachnodactyly, Camptodactyly of fin... |
ORPHA:2215 |
Tetrasomy 5P |
|
Recurrent respiratory infections, Hydrocephalus, Pulmonary hypoplasia |
ORPHA:3309 |
Meier-Gorlin Syndrome 1 |
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Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Flexion contracture, P... |
OMIM:224690 |
Diabetes Mellitus, Permanent Neonatal, 2 |
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Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia |
OMIM:618856 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
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Encephalocele, Low-set, posteriorly rotated ears, Omphalocele, Intestinal malrotation, Polyhydram... |
ORPHA:2166 |
Grange Syndrome |
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Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis |
ORPHA:79094 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Atrial septal defect, Hydrocephalus, Patent ductus arteriosus, Double outlet right ventricle |
OMIM:614886 |
Hypophosphatemic Rickets And Hyperparathyroidism |
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Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Blepharocheilodontic Syndrome 1 |
|
Lagophthalmos, Ectropion of lower eyelids, Neural tube defect, Euryblepharon, Distichiasis |
OMIM:119580 |
Chromosome 17P13.1 Deletion Syndrome |
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Epicanthus, Telecanthus, Posteriorly rotated ears, Spina bifida, Highly arched eyebrow, Hydroceph... |
OMIM:613776 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
Pontocerebellar Hypoplasia Type 2 |
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Abnormal cortical gyration, Oral-pharyngeal dysphagia, Dysplastic corpus callosum, Choreoathetosi... |
ORPHA:2524 |
Scarf Syndrome |
|
Barrel-shaped chest, Thickened nuchal skin fold, Inguinal hernia, Posteriorly rotated ears, Diast... |
OMIM:312830 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
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Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Multip... |
ORPHA:93360 |
Atrial Septal Defect 2 |
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Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Hartsfield Syndrome |
|
Encephalocele, Craniosynostosis, Non-midline cleft lip, Cleft palate, Lobar holoprosencephaly, In... |
ORPHA:2117 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal rib morphology, Slender long bone, Abnormal pelvic gi... |
ORPHA:1506 |
Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology |
OMIM:269630 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... |
ORPHA:93323 |
Kenny-Caffey Syndrome, Type 2 |
|
Papilledema, Transient hypophosphatemia, Retinal calcification, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Teebi Hypertelorism Syndrome 1 |
|
Pulmonary hypoplasia |
OMIM:145420 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Syndactyly, Jejunal atresia, Kyphoscoliosis, Joint stiffness, Ileal atresia, Dysplas... |
OMIM:618820 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Intrauterine growth retarda... |
OMIM:611134 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Death in infancy, Inguinal hernia, Aganglionic megacolon, Corneal neovascularization... |
OMIM:308205 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Aplasia of the uterus, Vaginal atresia, Uterus didelphys, Septate vagina |
ORPHA:2237 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Holoprosencephaly, Pulmonary hypoplasia |
OMIM:612530 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Barrel-shaped chest, Joint laxity, Lumbar hyperlordosis, Posteriorly rotated ears, Short neck, Me... |
OMIM:612813 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Intestinal malrotation, Pectus excavatum, Abnormal rib morphology, Ap... |
ORPHA:2970 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G... |
OMIM:250420 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Asymmetric septal... |
OMIM:252930 |
Atelosteogenesis Type I |
|
Joint dislocation, Short femur, Polyhydramnios, Malrotation of colon, Abnormal ossification invol... |
ORPHA:1190 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, A... |
OMIM:607155 |
Bruck Syndrome 2 |
|
Osteopenia, Inguinal hernia, Flexion contracture, Elbow flexion contracture, Femoral bowing, Pect... |
OMIM:609220 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Genu valgum,... |
ORPHA:583 |
Alg9-Cdg |
|
Villous atrophy, Short neck, Hydrops fetalis, Large fleshy ears, Narrow greater sciatic notch, Ab... |
ORPHA:79328 |
Crouzon Syndrome |
|
Hydrocephalus, Abnormal sacrum morphology, Optic atrophy, Narrow palate, Multiple suture craniosy... |
ORPHA:207 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, Cone-shaped epi... |
ORPHA:85172 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph... |
ORPHA:157215 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Hydrocephalus, Low-set ears, Short nose |
ORPHA:1895 |
Manitoba Oculotrichoanal Syndrome |
|
Vaginal atresia |
OMIM:248450 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Multiple prenatal fractures, Tibial bowing, Femoral bowing, Decreased skull ossificat... |
OMIM:610915 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Posteriorly rotated ears, Ataxia, Coxa valga, Aggressive behavior, Microcephaly, Hydrocephalus, O... |
OMIM:619833 |
Opsismodysplasia |
|
Polyhydramnios, Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx... |
OMIM:258480 |
Microhydranencephaly |
|
Microcephaly, Pachygyria, Athetosis, Hydranencephaly, Macrotia, Agenesis of corpus callosum, Self... |
OMIM:605013 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Warsaw Breakage Syndrome |
|
Ventricular septal defect, Hypoplasia of the cochlea, Cupped ear, Optic disc coloboma, Tetralogy ... |
OMIM:613398 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Craniosynostosis, Parietal foramina, Cleft lip, Myelomeningocele, Cleft ... |
ORPHA:60015 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Syndactyly, Sacral dimple, Tricuspid regurgitation, Hearing impairment, Short neck, ... |
OMIM:616894 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pulmonary hypoplasia |
OMIM:615503 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Brachycephaly, Craniosynostosis |
OMIM:614416 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Polyhydramnios, Coxa vara, Narrow greater sciat... |
ORPHA:93316 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Rocker bottom foot, Spina bifida, Camptodactyly of finger, Microcephaly, Cry... |
ORPHA:99776 |
Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos... |
OMIM:208230 |
Microcephaly-Micromelia Syndrome |
|
Aqueductal stenosis, Pulmonary hypoplasia |
OMIM:251230 |
Craniotelencephalic Dysplasia |
|
Low-set, posteriorly rotated ears, Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal en... |
ORPHA:1528 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Kyphosis, Delayed skeletal maturation, Osteoporosis, Irregular vertebral e... |
OMIM:234250 |
Marden-Walker Syndrome |
|
Short neck, High, narrow palate, Abnormal sternum morphology, Hypoplasia of the brainstem, Congen... |
OMIM:248700 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Anteverted nares, Hydrocephalus, Short nose, Macrotia, Hearing... |
ORPHA:2701 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Proximal placement of thumb, Alobar holoprosencephaly, Cryptorchidism, Low-set ears, Shawl scrotu... |
OMIM:615433 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... |
OMIM:184100 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Metaphyseal widening, Death in childhood, Thoracolumbar kyphoscoliosis, Hypoplasia of... |
OMIM:252500 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:2516 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Spina bifida, Tracheomalacia, Conductive hearing impairment, Myelomeningocele, ... |
ORPHA:1393 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent duc... |
OMIM:270100 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly |
OMIM:618731 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Osteopenia, Short metacarpal, Joint laxity, Camptodactyly of finger, K... |
OMIM:612350 |
Joubert Syndrome 16 |
|
Encephalocele, Polydactyly, Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:614465 |
Right Atrial Isomerism |
|
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... |
OMIM:208530 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal... |
OMIM:616276 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Anteverted nares, Posteriorly rotated ears, Bulbous nose, Wide nasal bridge, Glossoptosis, High p... |
OMIM:613604 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Hurler Syndrome |
|
Short neck, Metaphyseal widening, Flexion contracture, Hernia, Hypoplasia of the femoral head, Hy... |
OMIM:607014 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Fla... |
OMIM:612852 |
Geroderma Osteodysplastica |
|
Beaking of vertebral bodies, Recurrent fractures, Hip dislocation, Osteoporosis, Abnormal form of... |
ORPHA:2078 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... |
ORPHA:99429 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Low-set ears |
OMIM:618974 |
Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa valga, Osteo... |
OMIM:619131 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
Giant Cell Arteritis |
|
Pericarditis, Vertigo, Vasculitis, Optic atrophy, Aortic dissection, Conductive hearing impairmen... |
ORPHA:397 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Lateral ventricle dilatation, Partial agenesis of the corpus callosum |
OMIM:619517 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures... |
OMIM:156510 |
Maxillonasal Dysplasia |
|
Depressed nasal bridge, Depressed nasal ridge, Cleft palate, Short columella, Abnormal nostril mo... |
ORPHA:1248 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Microcephaly, Inability to walk, Shortening of all distal phalanges of the fingers, Large earlobe... |
OMIM:615716 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Kyphosis, Hydrocephalus, Breech presentation, Wide anterior fontanel, Conge... |
OMIM:616482 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Omphalocele, Ventral hernia, Broad hallux, Sandal gap, Posteriorly rotated ears, Cleft soft palat... |
OMIM:618529 |
Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Short metacarpal, Thoracolumbar kyphoscoliosis, Joint hypermobility,... |
OMIM:618853 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Multiple joint contractures, Metaphyseal widening, Generalized joi... |
ORPHA:536471 |
Clark-Baraitser Syndrome |
|
Depressed nasal bridge, Anteverted nares, Large earlobe, High palate, Low-set ears, Short nose, L... |
OMIM:617752 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Fused ce... |
OMIM:609053 |
Spondylocamptodactyly Syndrome |
|
Platyspondyly, Camptodactyly of finger, Scoliosis |
ORPHA:3180 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Hearing impairment, Cox... |
OMIM:618150 |
Smith-Mccort Dysplasia 2 |
|
Barrel-shaped chest, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Short... |
OMIM:615222 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Posteriorly rotated ears, Anteverted nares, Delayed eruption of permanent teeth, Low-set ears, Sh... |
OMIM:618506 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Asymmetric septal hypertrophy, De... |
OMIM:252920 |
Short Stature And Facioauriculothoracic Malformations |
|
Abnormal odontoid process morphology, Short neck, Pectus excavatum, Cupped ear, Cleft palate, Pec... |
OMIM:609654 |
Mucopolysaccharidosis, Type X |
|
Aortic regurgitation, Irregular acetabular roof, Spatulate ribs, Broad clavicles, Hyperlordosis, ... |
OMIM:619698 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Flexion contracture, Atrioventricular block, Abnormal form of the v... |
ORPHA:581 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Short nose, Macrotia, Depressed nasal bridge |
ORPHA:438178 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Short nose, Sensorineural hearing impairment |
OMIM:618379 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti... |
ORPHA:79345 |
Fg Syndrome Type 1 |
|
Generalized joint laxity, Abnormal sternum morphology, High palate, Finger syndactyly, Premature ... |
ORPHA:93932 |
Acrocephalopolydactylous Dysplasia |
|
Pulmonary hypoplasia, Extrapulmonary sequestrum |
OMIM:200995 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Renal Agenesis |
|
Pulmonary hypoplasia |
ORPHA:411709 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... |
OMIM:309620 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Polyhydramnios, Delayed epiphyseal... |
OMIM:114290 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Primary amenorrhea, Vanishing testis, Aplasia of the uterus, Gonadal... |
OMIM:273250 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Inguinal hernia, Pectus excavatum, Submucous cleft hard palate, Darwin tubercle... |
OMIM:619122 |
Cach Syndrome |
|
Premature ovarian insufficiency, Microcephaly, Optic atrophy, Primary amenorrhea, Secondary ameno... |
ORPHA:135 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Osteopenia, Inguinal hernia, Short femur, Wide cranial sutures, Meta... |
OMIM:618188 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura... |
ORPHA:93317 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Sensorineural hearing impairment, Osteoporosis, Cone-shaped epiphysis,... |
ORPHA:71267 |
Stickler Syndrome Type 1 |
|
Sensorineural hearing impairment, Osteoarthritis, Cleft palate, Joint hyperflexibility, Platyspon... |
ORPHA:90653 |
Bor Syndrome |
|
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... |
ORPHA:107 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
Mucopolysaccharidosis, Type Iiid |
|
Cerebellar atrophy, Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, In... |
OMIM:252940 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... |
ORPHA:1145 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Short stature, Craniosynostosis, Pyloric stenosis, Bra... |
ORPHA:314575 |
C Syndrome |
|
Low-set, posteriorly rotated ears, Omphalocele, Sacral dimple, Toe syndactyly, Joint dislocation,... |
ORPHA:1308 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... |
OMIM:615633 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Periventricular leukomalacia, Ataxia, Microcephaly, Inability to walk, Partial agenesis of the co... |
ORPHA:79243 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of the outer ear, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, P... |
OMIM:615948 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... |
OMIM:612847 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Low-set ears, Camptodactyly, Cervical C2/C3 vertebral fusion, Joint hypermobility, Intrauterine g... |
OMIM:617333 |
Weaver Syndrome |
|
Short fourth metatarsal, Accelerated skeletal maturation, Calcaneovalgus deformity, Hypoplastic i... |
OMIM:277590 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Sensorineural hearing impairme... |
OMIM:618652 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... |
OMIM:605376 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Pulmonary hypoplasia, Spina bifida |
ORPHA:3412 |
Down Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Atrioventricular canal defect, Pulmonary artery... |
OMIM:190685 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Intrauterine growth retardation, Short nose |
ORPHA:2370 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Oligomeganephronia |
|
Branchial cyst, Pulmonary venous occlusion, Pulmonary hypoplasia |
ORPHA:2260 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Pulmonary hypoplasia |
OMIM:231680 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Hearing impairment, Cupped ear, Protruding ear,... |
OMIM:618619 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Delayed skeletal maturation, Abnormal rib morphology, Abnormal epiphysis morphology, Intrauterine... |
ORPHA:2643 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Mixed hearing impairment, Lumbar hyperlordosis, Enlarged joints, Large tars... |
OMIM:215150 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Optic disc pallor, Posteriorly rotated ears, Atrial septal defect, Tetra... |
OMIM:300887 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Toe syndactyly, Broad hallux, Congenital stapes ankylosis, Proximal/middle symp... |
OMIM:184460 |
Verloove Vanhorick-Brubakk Syndrome |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:3429 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Abnormal pinna morphology, Short neck, Delayed skeletal maturation, Abnormal rib morp... |
ORPHA:488434 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... |
ORPHA:2769 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Premature birth, Increased bone mineral ... |
ORPHA:50945 |
Osteoglosphonic Dysplasia |
|
Abnormal clavicle morphology, Inguinal hernia, Craniosynostosis, Delayed skeletal maturation, Abn... |
ORPHA:2645 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Sensorineural hearing impairment, Optic atrophy, Stroke, Atrial septal... |
ORPHA:49827 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... |
OMIM:186500 |
Bent Bone Dysplasia Syndrome 2 |
|
Thickened nuchal skin fold, Osteopenia, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, ... |
OMIM:620076 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Depressed nasal bridge, Broad nasal tip, Cleft palate, High palate, Sh... |
OMIM:619736 |
Spondylo-Ocular Syndrome |
|
Abnormal intervertebral disk morphology, Short neck, Osteoporosis, Abnormal antihelix morphology,... |
ORPHA:85194 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, High palate, Barrel-... |
OMIM:226980 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Posteriorly rotated ears, Aganglionic megacolon, Patent ductus arterio... |
OMIM:613870 |
Mucopolysaccharidosis Type 1 |
|
Joint dislocation, Abnormal form of the vertebral bodies, Enlarged thorax, Hernia, Chronic otitis... |
ORPHA:579 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
46,Xy Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... |
ORPHA:325345 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... |
ORPHA:1596 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly |
OMIM:620156 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... |
ORPHA:89936 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:241530 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... |
OMIM:250220 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Joubert Syndrome 1 |
|
Optic disc pallor, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem dysplas... |
OMIM:213300 |
Sirenomelia |
|
Absence of the sacrum, Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia |
ORPHA:3169 |
Arthrogryposis Multiplex Congenita 5 |
|
Polyhydramnios, Short neck, Flexion contracture, Death in infancy, Scoliosis, Umbilical hernia, 1... |
OMIM:618947 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Sensorineural heari... |
OMIM:164210 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, Micropenis, Penile hypospadia... |
ORPHA:456328 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Broad-based gait, Ataxia, Impulsivity, Inability to walk, Sensorineural hearing impairment, Protr... |
OMIM:617854 |
Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypo... |
OMIM:230650 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Joubert Syndrome 35 |
|
Cerebellar vermis hypoplasia, Pectus carinatum, Low-set ears, Molar tooth sign on MRI, Elongated ... |
OMIM:618161 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contr... |
OMIM:271640 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Postaxial hand polydactyly, Hydrometrocolpos, Cone-shaped epiphysis, Short... |
OMIM:617088 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Pulmonary hypoplasia |
OMIM:614091 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Microcephaly, Lissencephaly,... |
OMIM:616038 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Natal tooth, Broad long bones, Coxa valga, Cubitus valgus, Wide anterior fontanel, Fl... |
OMIM:269300 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Pulmonary a... |
OMIM:600001 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Posteriorly rotated ears, Abnormal heart morphology, Persistent left s... |
OMIM:618494 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly, Genu valgum |
OMIM:184095 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Microtia, Severe sensorineural hearing impairment, Short nose,... |
ORPHA:2983 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse |
OMIM:616166 |
Developmental And Epileptic Encephalopathy 95 |
|
Short fourth metatarsal, Multiple joint contractures, Fetal akinesia sequence, Hypoplasia of the ... |
OMIM:618143 |
Shashi-Pena Syndrome |
|
Short metacarpal, Posteriorly rotated ears, Accelerated skeletal maturation, Kyphosis, Cupped ear... |
OMIM:617190 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Congenital sensorineural hearing impairment, Pa... |
ORPHA:500159 |
Congenital Myopathy 17 |
|
Respiratory tract infection, Pulmonary hypoplasia |
OMIM:618975 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphy... |
ORPHA:157965 |
Frontonasal Dysplasia 1 |
|
Anterior basal encephalocele, Low-set ears, Conductive hearing impairment, Tetralogy of Fallot, C... |
OMIM:136760 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele |
ORPHA:3366 |
De Barsy Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Prominent veins on ... |
ORPHA:2962 |
Gm1 Gangliosidosis |
|
Hydrops fetalis, Abnormal form of the vertebral bodies, Premature birth, Hyperlordosis, Cardiomyo... |
ORPHA:354 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Anencephaly, Pulmonary hypoplasia |
OMIM:619148 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Broad toe, Dysplastic corpus callosum, Cerebral atrophy, Broad finger, Hypoplasia of the corpus c... |
OMIM:616900 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal intervertebral disk morphology, Joint stiffness, Pulmonary embolism, Congestive heart fa... |
ORPHA:1345 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia |
OMIM:604484 |
Chopra-Amiel-Gordon Syndrome |
|
Thin upper lip vermilion, Short stature, Postnatal growth retardation, Cleft lip, Pierre-Robin se... |
OMIM:619504 |
Acrofacial Dysostosis, Catania Type |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Inguinal hernia, Premature birth, Pectus ex... |
ORPHA:1786 |
Myhre Syndrome |
|
Craniofacial hyperostosis, Brachydactyly, Inguinal hernia, Femoral hernia, Hearing impairment, Jo... |
ORPHA:2588 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Fetal Valproate Spectrum Disorder |
|
Omphalocele |
ORPHA:1906 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta... |
ORPHA:3092 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Polyhydramnios, Shor... |
OMIM:200610 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... |
OMIM:600987 |
Cebalid Syndrome |
|
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Abnormal pinna morphology, De... |
OMIM:618774 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Esophageal Atresia |
|
Omphalocele, Barrett esophagus, Intestinal malrotation, Polyhydramnios, Pyloric stenosis, Laryngo... |
ORPHA:1199 |
Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Absent external genitalia, Hydrocephalus, Hypoplastic pelvis, L... |
OMIM:273395 |
Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Bowing of the long bones, Congenital hip dislocation, Inguinal hernia, Pectus excavat... |
OMIM:612940 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Ventricular septal defect, Conductive hearing impairment, Patent ductus ar... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Ventricular septal defect, Conductive hearing impairment, Patent ductus ar... |
ORPHA:353277 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Ventricular septal defect, Coarctation of aorta |
OMIM:620210 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Thickened helices, Posteriorly rotated ears, Optic nerve hypoplasia, P... |
OMIM:617506 |
Acro-Renal-Ocular Syndrome |
|
Vertebral segmentation defect, Triphalangeal thumb, Conductive hearing impairment, Hypoplasia of ... |
ORPHA:959 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... |
OMIM:211350 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:307800 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Delayed skeletal maturation, Femoral bowing, Platyspondyly, Thoracic kyphosis, ... |
OMIM:619638 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis |
OMIM:619708 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Short neck, Delayed epiphyseal ossification, Flexion contracture, P... |
OMIM:210710 |
Holoprosencephaly 7 |
|
Omphalocele, Bilateral cleft palate, Median cleft lip and palate, Alobar holoprosencephaly, Hydro... |
OMIM:610828 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Sensorineural hearing impairment, Optic atroph... |
OMIM:249270 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Thick cerebral cortex, Congenital hip dislocation, Ataxia, Inability to... |
ORPHA:357058 |
Mosaic Trisomy 16 |
|
Large placenta, Abnormal lung morphology, Pulmonary hypoplasia |
ORPHA:1708 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Right aortic arch, Recurrent otitis media, Ventricular septal defect, Abnormal Eustachian tube mo... |
ORPHA:513456 |
Jeavons Syndrome |
|
Abnormal head movements |
ORPHA:139431 |
Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Patent ductus arteriosus, Ventricular septal defect, Abnormal location of ears |
OMIM:218350 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Macular scar, Hydroxyprolinemia, Angioid streaks of the fundus, Hyperphosphatemia, Hyperuricemia,... |
OMIM:239000 |
Pfeiffer Syndrome Type 2 |
|
Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Aqueductal stenosis, Hydrocephal... |
ORPHA:93259 |
Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia |
OMIM:266510 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Low-set ears, Conductive hearing impairment, Intrauterine growth retardat... |
OMIM:616910 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Incomplete partition of the cochlea type II, Sensorineural hearing impairment, Tethered cord, Spi... |
OMIM:617660 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Posteriorly rotated ears, Perimembranous ventricular septal defect, Transposition of the great ar... |
OMIM:617877 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Thoracolumbar scoliosis, ... |
OMIM:616723 |
X-Linked Intellectual Disability, Nascimento Type |
|
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Macrotia, Abnormal vena cav... |
ORPHA:163956 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Pulmonary artery atre... |
ORPHA:401935 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Sensorineural hearing impairment, ... |
ORPHA:1529 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:264700 |
Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... |
OMIM:618156 |
Neu-Laxova Syndrome |
|
Ventriculomegaly, Cerebral calcification, External genital hypoplasia, Spina bifida, Absent septu... |
ORPHA:2671 |
Pfeiffer Syndrome Type 1 |
|
Depressed nasal bridge, Aqueductal stenosis, High palate, Low-set ears, Short nose, Hearing impai... |
ORPHA:93258 |
Acrocephalopolydactyly |
|
Short nose, Microtia, Depressed nasal ridge |
ORPHA:221054 |
Campomelia, Cumming Type |
|
Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Abnormal thorax morpho... |
ORPHA:1318 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Perlman Syndrome |
|
Anteverted nares, Posteriorly rotated ears, High, narrow palate, Wide nasal bridge, Low-set ears,... |
ORPHA:2849 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Cleft palate, Plagiocephaly, Downturned corners of mouth, Ectopic anus, Short philtrum |
ORPHA:94066 |
Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Optic disc pallor, Cerebellar vermis hypoplasia, Portal h... |
OMIM:216360 |
Potocki-Lupski Syndrome |
|
Hypocholesterolemia |
OMIM:610883 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial septal defect, Subvalvul... |
OMIM:108900 |
Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Arachnodactyly, Joint hypermobility, Pectus excavatum, Delayed skeletal maturation, T... |
ORPHA:2463 |
Chondrodysplasia, Blomstrand Type |
|
Preductal coarctation of the aorta |
OMIM:215045 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Pulmonary hypoplasia |
OMIM:615636 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Phalangeal dislocation, Short neck, Elbow dislocation, Hypoplasia of the od... |
OMIM:264180 |
Genitopatellar Syndrome |
|
Pulmonary hypoplasia |
ORPHA:85201 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Long ear, Aplasia... |
OMIM:276820 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Short neck, Femoral bowing, Tibial bowing, Knee flexion contracture, Smooth tong... |
OMIM:601559 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Tracheoesophageal fistula, Abnormal form of the vertebral bodies, Intest... |
ORPHA:93941 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Posteriorly rotated ears, Congenital diaphragmatic hernia, Short nec... |
ORPHA:1780 |
Occipital Horn Syndrome |
|
Osteopenia, High, narrow palate, Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short ... |
ORPHA:198 |
Keutel Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Optic atrophy, Recurrent otitis media, Hear... |
ORPHA:85202 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... |
OMIM:615219 |
8P23.1 Microdeletion Syndrome |
|
External ear malformation, Pulmonary artery stenosis, Patent ductus arteriosus, Hypertrophic card... |
ORPHA:251071 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion |
OMIM:612247 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... |
OMIM:619743 |
Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Elbow contracture, Short metatarsal, Finger clinodactyly, High palate... |
OMIM:617137 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation |
ORPHA:2063 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Pterygium Colli, Isolated |
|
Short nose, Protruding ear |
OMIM:177990 |
Interstitial Cystitis |
|
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... |
ORPHA:37202 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Dandy-Walker malformation, Preaxial hand polydactyly, Abnormal pelvis bone ossificat... |
ORPHA:93271 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Lateral clavicle hook, Hydrops fetalis, Pectus carinatum, Thoracic ... |
OMIM:263520 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... |
OMIM:606519 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Low-set ears, Atria... |
OMIM:618142 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Short nose, Broad nasal tip |
OMIM:613670 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Protruding ear |
OMIM:301039 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Esophageal atresia, Hydrocephalus, Hemivertebrae, Tracheoesophageal fistula, Ag... |
ORPHA:77298 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Chung-Jansen Syndrome |
|
Anteverted nares, Large earlobe, High palate, Short nose, Macrotia |
OMIM:617991 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Acrorenal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Hemivertebrae, High palate, Narrow chest, Hypoplasia of the ulna... |
OMIM:200980 |
1Q21.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Sensorineural hearing impairment, Abnormal cardiac septu... |
ORPHA:250989 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Incre... |
ORPHA:1782 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Mucopolysaccharidosis Type 7 |
|
Anterior beaking of lower thoracic vertebrae, Inguinal hernia, Short neck, Metatarsus adductus, J... |
ORPHA:584 |
X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation |
ORPHA:85290 |
Sacral Defect With Anterior Meningocele |
|
Back pain, Myeloschisis, Absence of the sacrum, Hemisacrum, Myelomeningocele, Meningocele, Hydroc... |
OMIM:600145 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Posteriorly rotated ears, Flexion contracture, Shor... |
OMIM:619479 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Joint dislocation, Thoracic scoliosis, Widened atrophic scar, Distal joint laxity, Ge... |
ORPHA:1900 |
Lowry-Maclean Syndrome |
|
Choanal atresia, Delayed eruption of primary teeth, High, narrow palate, Hydrocephalus, Pyloric s... |
ORPHA:2409 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect |
OMIM:253300 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Congenital hip dislocation, Abnormal pinna morphology, Femur fracture, Perisylvian polymicrogyria... |
OMIM:618291 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Pectus excavatum, Abnormal rib morphology, Cleft palate,... |
OMIM:602196 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Pectus ... |
OMIM:615349 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Lateral clavicle hook, High, narrow palate, 2-3 toe cutaneous syndactyl... |
OMIM:600920 |
22Q11.2 Deletion Syndrome |
|
Abnormal aortic arch morphology, Conductive hearing impairment, Atrial septal defect, Small earlo... |
ORPHA:567 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Short nose, Spina bifida occulta, Anteverted nares |
ORPHA:1185 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Mucolipidosis Iv |
|
Dysplastic corpus callosum, Optic atrophy, Cerebral dysmyelination, Microcephaly |
OMIM:252650 |
Feingold Syndrome Type 1 |
|
Tricuspid stenosis, Patent ductus arteriosus, Sensorineural hearing impairment, Multiple muscular... |
ORPHA:391641 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Metaphyseal spurs, Ovoid vertebral b... |
ORPHA:85167 |
Nail-Patella Syndrome |
|
Back pain, Lumbar hyperlordosis, Glenoid fossa hypoplasia, Spina bifida, Pectus excavatum, Patell... |
OMIM:161200 |
Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondy... |
OMIM:113500 |
Congenital Myopathy 22B, Severe Fetal |
|
Thoracic scoliosis, Polyhydramnios, Short neck, Flexion contracture, High palate, Scapular wingin... |
OMIM:620369 |
Oculoauriculofrontonasal Syndrome |
|
Conductive hearing impairment, Encephalocele, Microtia, Ventricular septal defect |
ORPHA:398156 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Sensorineural hearing... |
OMIM:617751 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta |
ORPHA:1923 |
Jacobsen Syndrome |
|
Low-set, posteriorly rotated ears, Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Spina... |
ORPHA:2308 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Death in infancy, Kyphoscoliosis, Cox... |
OMIM:617425 |
Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Macrotia, Coarctati... |
OMIM:600460 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Sensorineural hearing impairment, Atrial sep... |
ORPHA:290 |
Hydrolethalus Syndrome 1 |
|
Omphalocele, Abnormal pinna morphology, Polyhydramnios, Preaxial hand polydactyly, Postaxial hand... |
OMIM:236680 |
Hallermann-Streiff Syndrome |
|
High, narrow palate, Metaphyseal widening, High palate, Spina bifida, Hyperlordosis, Optic disc c... |
OMIM:234100 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Partial agenesis of the corpus callosum, Simplified gyral pattern, Large basal ganglia, Abnormal ... |
ORPHA:300570 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubular bones of ... |
ORPHA:85184 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose, High palate |
ORPHA:2598 |
New-Onset Refractory Status Epilepticus |
|
Focal T2 hyperintense basal ganglia lesion, Abnormal head movements, Abnormal basal ganglia MRI s... |
ORPHA:363558 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Facial Paresis, Hereditary Congenital, 3 |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Sensorineural hearing impairm... |
OMIM:614744 |
Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia |
OMIM:608600 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect |
OMIM:126320 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Barrel-shaped chest, Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Short iliac bon... |
OMIM:607944 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Coarctation of aorta, Low-set... |
OMIM:300514 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Thin ribs, Lissencephaly, Polym... |
OMIM:614833 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Microcephaly, Decreased nerve conduction velocity, Cryptorchidism, Corpus call... |
ORPHA:565624 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Wide nasal bridge, Hypocholesterolemia |
OMIM:618810 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Recurrent fractures, ... |
ORPHA:83 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Weill-Marchesani Syndrome 2 |
|
Short metatarsal, High palate, Thickened helices, Broad ribs, Broad metacarpals, Short metacarpal... |
OMIM:608328 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
Trisomy 8Q |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Short neck, Joint stiffness, Myelomen... |
ORPHA:1752 |
Acrocapitofemoral Dysplasia |
|
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... |
OMIM:607778 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pulmonary hypoplasia |
OMIM:263200 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Finger syndactyly, Pectus excavatum, Short toe, Advanced eruption of teeth, Low-set ... |
ORPHA:1519 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Lateral ventricle dilatation |
OMIM:600721 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Low-set ears, Posteriorly rotated ears |
OMIM:616898 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Flattened metatarsal heads, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Flattened metacarp... |
OMIM:271600 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Frontal bossing, Conical tooth, Abnormality of the dentition, Brachycephaly, Intra... |
ORPHA:228390 |
Occipital Horn Syndrome |
|
Persistent open anterior fontanelle, Pectus carinatum, High palate, Narrow chest, Broad ribs, Joi... |
OMIM:304150 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Patent ductus arteriosus, Cupped ear, Overfolded helix, Low-set ears, Pulmonic stenosis, Atrial s... |
OMIM:618223 |
Osteoglophonic Dysplasia |
|
Osteopenia, Short neck, Short metatarsal, Eruption failure, High palate, Short palm, Short phalan... |
OMIM:166250 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary s... |
OMIM:618280 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Thoracic scoliosis, Widened atrophic scar, Equinus calcaneus, Knee... |
ORPHA:536532 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Anteverted nares, Choanal atresia, Midnasal stenosis, Cleft palate, Holopros... |
ORPHA:280200 |
Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:618624 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Intrauterine growth retardation, Short nose, Protruding ear |
ORPHA:1495 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co... |
ORPHA:249 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae, Agenesis of corpus callosum |
ORPHA:238722 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, High pala... |
OMIM:614069 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Bowing of the legs, Short neck, Pectus carinatum, Abnormal calcification of the carpal bones, Tri... |
OMIM:271665 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Pulmonary a... |
ORPHA:2255 |
Isolated Posterior Meningocele |
|
Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occ... |
ORPHA:268810 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hypophosphatemia |
OMIM:616026 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Lenticonus, Hypophosphatemia |
OMIM:104200 |
Infantile Nephropathic Cystinosis |
|
Pigmentary retinopathy, Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia |
ORPHA:411629 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Hypertension, Molar tooth sign on MRI, Agenesis of c... |
OMIM:619111 |
Alzahrani-Kuwahara Syndrome |
|
Optic disc pallor, Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement,... |
OMIM:619268 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Cerebrofacioarticular Syndrome |
|
Syndactyly, Ataxia, Hypospadias, Microcephaly, Dysplastic corpus callosum, Self-injurious behavio... |
ORPHA:314679 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... |
OMIM:615812 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Short palm, Joint laxity, Lumbar h... |
OMIM:250250 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Asymmetry of the ears, Posteriorly rotated ears, Antever... |
OMIM:300166 |
Sclerosteosis 1 |
|
Syndactyly, Papilledema, Facial palsy, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly... |
OMIM:269500 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Agenesis of co... |
OMIM:613091 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Limit... |
OMIM:619598 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Impulsivity, Aggressive behavior, Cupped ear, 2-3 toe syndactyly, Self-injurious beha... |
OMIM:618914 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele |
ORPHA:324416 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Patent ductus arteriosus, Hydrocephalus, Int... |
ORPHA:163979 |
Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Potocki-Shaffer Syndrome |
|
Short nose, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:601224 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... |
OMIM:614823 |
Aymé-Gripp Syndrome |
|
Congenital diaphragmatic hernia, Chiari type I malformation, Clinodactyly of the 5th finger, Prom... |
ORPHA:1272 |
Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Lateral ventricle dilatation |
OMIM:608629 |
Isotretinoin Syndrome |
|
Spina bifida occulta, Biparietal narrowing, Cleft palate |
ORPHA:2305 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Death in infancy, Intestinal obstruction, Jejunal atresia, Intestinal malrotation, I... |
OMIM:243150 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
Pfeiffer Syndrome |
|
Depressed nasal bridge, Choanal atresia, Hydrocephalus, Choanal stenosis, High palate, Short nose |
OMIM:101600 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular leukomalacia, Ataxia, Periventricular cysts, Hypoplasia of the corpus callosum, S... |
ORPHA:255138 |
Lambotte Syndrome |
|
Macrotia, Ventricular septal defect, Atresia of the external auditory canal, Semilobar holoprosen... |
OMIM:245552 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Protruding ear, Low-s... |
ORPHA:329224 |
Fanconi Anemia |
|
Abnormal femur morphology, Abnormality of the uterus, Triphalangeal thumb, Clinodactyly of the 5t... |
ORPHA:84 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Bone pain, Pectus carinatum, Hernia, Decreased skull ossification, Partia... |
ORPHA:955 |
Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal optic disc morphology, Low-set ears... |
OMIM:617516 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:300554 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Patent ductus arteriosus, Sensorineural hearing impairment, Hydrocepha... |
OMIM:612938 |
Beckwith-Wiedemann Syndrome |
|
Polyhydramnios, Accelerated skeletal maturation, Congenital diaphragmatic hernia, Subchorionic se... |
ORPHA:116 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Large earlobe, Hydrocephalus, Ventricular septal defect |
OMIM:602501 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Hypophosphatemia |
OMIM:239200 |
Glutamine Deficiency, Congenital |
|
Subependymal cysts, Lateral ventricle dilatation |
OMIM:610015 |
Saethre-Chotzen Syndrome |
|
Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive hearing impairment, Clinod... |
ORPHA:794 |
Cerebellofaciodental Syndrome |
|
Tapered finger, Hypoplasia of the pons, Short neck, Delayed skeletal maturation, Shortening of al... |
OMIM:616202 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Sensorineural hearing impairment, Polydactyly |
OMIM:616490 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pu... |
ORPHA:99125 |
Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Premature rupture of membranes, Glossoptosis, High palate, Neonatal... |
OMIM:311900 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Posteriorly rotated ears, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Pro... |
OMIM:620001 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lateral ventricle dilatation |
ORPHA:284417 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Hypocholesterolemia, Steatorrhea |
OMIM:607765 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Pulmonary artery stenosis, Abnormal pinna morphology, Ventricular septal de... |
ORPHA:75389 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
ORPHA:95433 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... |
OMIM:227810 |
Hypophosphatasia |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Narrow ... |
ORPHA:436 |
Kapur-Toriello Syndrome |
|
Posteriorly rotated ears, Ventricular septal defect, Patent ductus arteriosus, Atresia of the ext... |
ORPHA:2328 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation |
OMIM:256850 |
Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Frontal bossing, Cleft upper lip, High, narrow palate, Cleft palate, Brachyturricephaly, Ethmoida... |
OMIM:607597 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Rectal prolapse, Pectus carinatum, Protruding ear, High ... |
OMIM:303600 |
Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Patent ductus arteriosus, Microtia, Interrup... |
OMIM:300712 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Holoprosencephaly, Synotia, Narrow internal auditory canal, Ab... |
ORPHA:990 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Low-set ears, Atrial sept... |
OMIM:615355 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... |
OMIM:617168 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... |
OMIM:612561 |
Digeorge Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormality of the middle ear, Interrupted a... |
OMIM:188400 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... |
ORPHA:2184 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Inguinal hernia, Abnormal pelvis bone morphology, Aganglionic megacolon, Camptodacty... |
ORPHA:2273 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Pierpont Syndrome |
|
Wide nose, Posteriorly rotated ears, Broad nasal tip, Large fleshy ears, Short nose, Hearing impa... |
OMIM:602342 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Umbilical hernia, Emphysema, Peripheral p... |
OMIM:613177 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Lumbar interpedicular narrowing, ... |
OMIM:271510 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Pontocerebellar Hypoplasia, Type 13 |
|
Microcephaly, Inability to walk, Clubbing, Gait ataxia, Lateral ventricle dilatation, Hypoplasia ... |
OMIM:618606 |
9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares, Protruding tongue |
DECIPHER:52 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Short nose, Short nasal septum, Hearing impairment |
OMIM:302950 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl... |
OMIM:601356 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
Gaucher Disease, Perinatal Lethal |
|
Pulmonary hypoplasia |
OMIM:608013 |
Gm1-Gangliosidosis, Type Ii |
|
Premature birth, Coxa valga, Joint stiffness, Protruding tongue, Optic atrophy, Hypoplastic verte... |
OMIM:230600 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Hypospadias, Microcephaly, Focal polymicrogyria, Cryptorchidism, Partial agenesis of the corpus c... |
OMIM:619103 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Pulmonary hypoplasia |
ORPHA:1112 |
Chromosome 16P13.3 Duplication Syndrome |
|
Proximal placement of thumb, Short neck, Protruding ear, Bifid uvula, Tapered finger, Short thumb... |
OMIM:613458 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... |
OMIM:619472 |
Transaldolase Deficiency |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Low-set ears, Atrial s... |
OMIM:606003 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bodies, Triangul... |
ORPHA:73230 |
Craniosynostosis 2 |
|
Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supern... |
OMIM:604757 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Macroglossia, High palate, Low-set ears,... |
ORPHA:369891 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Cor triatriatum, Ventricular septal defect, Dextrocardia, Hearing impairment, Situs inversus tota... |
OMIM:619534 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Low-set ears, Intrauterine growth retardation, Short nose, Macrotia |
OMIM:615419 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia, Angioid streaks of the fundus |
OMIM:211900 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Dysplastic corpus callosum, Microtia, Agenesis of corpus callosum, Dysplasi... |
OMIM:616854 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Sensorineural hearing impairment, Ventricular septal defect, Abnormal crani... |
ORPHA:228399 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Overfolded helix, Cleft palate, Abnormal middle ear morphology, Abnormal antihelix... |
ORPHA:79113 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macrotia, Patent foramen ovale, Transposition of the great arteries, Low-set ears |
OMIM:616789 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Patent ductus arteriosus, Sensorineural hear... |
OMIM:612582 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Pulmonary hypoplasia |
OMIM:619351 |
Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Protruding ear, ... |
OMIM:249420 |
Nemaline Myopathy 9 |
|
Ventricular septal defect |
OMIM:615731 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect, Atresia of the external auditory canal |
OMIM:209770 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Decreased fetal movement, Inguinal hernia, Congenital hip dislocation, Arachnodactyly... |
OMIM:225400 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Peho-Like Syndrome |
|
Short nose |
OMIM:617507 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Short neck, Polyhydramnios, Congenital diaphragmatic hernia, Abnorma... |
ORPHA:818 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ventricular septal defect, Uplifted earlobe, Pulmonary artery stenosis, Overfolded helix, Transpo... |
OMIM:280000 |
Rhombencephalosynapsis |
|
Low-set, posteriorly rotated ears, Anteverted nares, Aganglionic megacolon, Esophageal atresia, H... |
ORPHA:59315 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Inguinal hernia, Long clavicles, Overlapping toe, Arachnodactyly, Contracture of the distal inter... |
ORPHA:83617 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Broad nasal tip, Bifid nasal tip, Meningocele, Bifid nose, Thick nasal alae, Media... |
ORPHA:1827 |
Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Hearing impairment |
OMIM:616277 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Joubert Syndrome 22 |
|
Agenesis of cerebellar vermis, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot pol... |
OMIM:615665 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Posteriorly rotated ears, Complete atrioventric... |
OMIM:619343 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
Orofaciodigital Syndrome Type 3 |
|
Cerebellar vermis hypoplasia, Hamartoma of tongue, Pectus excavatum, Postaxial hand polydactyly, ... |
ORPHA:2752 |
Hydrocephalus, Congenital, X-Linked |
|
Thumb contracture, Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tr... |
OMIM:307000 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
ORPHA:289157 |
Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:208447 |
Distal Duplication 18Q |
|
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Choanal atresia, Hig... |
ORPHA:1716 |
Tetraamelia Syndrome 2 |
|
Bilateral lung agenesis, Hypoplastic pulmonary veins |
OMIM:618021 |
Joubert Syndrome 32 |
|
Abnormal cerebellum morphology, Postaxial hand polydactyly, Postaxial foot polydactyly, Molar too... |
OMIM:617757 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Stapes ankylosis, Anteverted nares, Intestinal malrotation, Velopharyngeal insufficiency, Submuco... |
OMIM:614701 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... |
OMIM:609945 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
Developmental And Epileptic Encephalopathy 49 |
|
Dandy-Walker malformation, Hyperactivity, Cerebral calcification, Microcephaly, Dysplastic corpus... |
OMIM:617281 |
Premature Aging Syndrome, Penttinen Type |
|
Hyperextensibility of the knee, Tibial bowing, Short palm, Joint contracture, Delayed skeletal ma... |
OMIM:601812 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Thickened ribs, Flexion contracture, Conductive hearing impairment, Abnormal vertebral morphology... |
ORPHA:217085 |
Lenz-Majewski Hyperostotic Dwarfism |
|
High, narrow palate, Abnormal finger morphology, Symphalangism affecting the phalanges of the han... |
ORPHA:2658 |
Lethal Congenital Contracture Syndrome 5 |
|
Decreased fetal movement, Death in infancy, Polyhydramnios, Decreased nerve conduction velocity, ... |
OMIM:615368 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:36913 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Irregular menstruation, Hypoplasia of the ut... |
OMIM:110100 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Calcaneovalgus deformity, Protruding ear, Prominent fingertip pads, Agenesis of corpus callosum, ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Calcaneovalgus deformity, Protruding ear, Prominent fingertip pads, Agenesis of corpus callosum, ... |
ORPHA:363958 |
Ollier Disease |
|
Joint stiffness, Bone pain, Osteolysis, Platyspondyly, Abnormal metaphysis morphology |
ORPHA:296 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
Developmental And Epileptic Encephalopathy 31B |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620352 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Waardenburg Syndrome, Type 2E |
|
Pectus excavatum, Aplasia of the semicircular canal, Sensorineural hearing impairment, Dilated ve... |
OMIM:611584 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Ataxia, Microcephaly, Chorea, Bradykinesia, Attention deficit hyperactivity disorder, Abnormal pe... |
OMIM:619725 |
Malan Overgrowth Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:420179 |
Baker-Gordon Syndrome |
|
Prominent nasal tip, Short nose |
OMIM:618218 |
Halperin-Birk Syndrome |
|
Colpocephaly, Umbilical hernia, Agenesis of corpus callosum, Ventriculomegaly, Semilobar holopros... |
OMIM:618651 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Abnormal pinna morphology, Patent ductus arteriosus, Cupped ear, Senso... |
ORPHA:52055 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Orbital encephalocele, Anophthalmia |
OMIM:164180 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Thickened ribs, Flexion contracture, Conductive hearing impairment, Abnormal vertebral morphology... |
ORPHA:217093 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Posteriorly rotated ears, Aganglionic megacolon, Broad nasal tip, Hydrocephalus, Sensorineural he... |
OMIM:239300 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Decreased fetal movement, Aganglionic megacolon, Short-segme... |
OMIM:609136 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Mucolipidosis Type Ii |
|
Knee flexion contracture, Abnormal long bone morphology, Narrow chest, Otitis media, Conductive h... |
ORPHA:576 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Aggressive behavior, Microcephaly, Cryptorchidism, Corpus callosum atrophy, Simplified gyral patt... |
OMIM:619244 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Pulmonary hypoplasia |
OMIM:614080 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Shprintzen Omphalocele Syndrome |
|
Omphalocele, Lumbar hyperlordosis, Kyphosis, Single umbilical artery, Narrow chest, Scoliosis, An... |
OMIM:182210 |
Acrocardiofacial Syndrome |
|
Mitral stenosis, Ventricular septal defect, Coarctation of aorta, Low-set ears, Atrial septal def... |
ORPHA:2008 |
Acromicric Dysplasia |
|
Bulbous nose, Anteverted nares, Short nose |
ORPHA:969 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation |
ORPHA:3078 |
Joubert Syndrome 30 |
|
Cerebellar atrophy, Postaxial hand polydactyly, Molar tooth sign on MRI, Superior cerebellar dysp... |
OMIM:617622 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hyperactivity, Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Hydrocephalus, Hip dy... |
ORPHA:457284 |
Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Short neck, Partial agenesis of the corpus callosum, Anteriorly plac... |
OMIM:305450 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Short neck, Congenital diaphragmatic hernia, Flexion ... |
OMIM:601803 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Congenital hip dislocation, Pectus carinatum, Knee dislocation, Shoulder dislocation,... |
ORPHA:536545 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Epicanthus, Tethered cord, Posteriorly rotated ears, Spina bifida, Cupped ear, Unilateral facial ... |
OMIM:619480 |
Transketolase Deficiency |
|
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... |
ORPHA:488618 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest, Death in in... |
OMIM:610682 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Anteverted nares, Prominent nasal bridge, Proboscis, Posteriorly rotated ears, Hyd... |
OMIM:605627 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:2549 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Posteriorly rotated ears, Ventricular septal defect, Low-set ears |
OMIM:314320 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Patent ductus arteriosus, Atrial septal defe... |
OMIM:615668 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Tongue nodules, Postaxial foot polydactyl... |
OMIM:258850 |
Arterial Tortuosity Syndrome |
|
Joint laxity, Aortic regurgitation, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic her... |
OMIM:208050 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Sensorineural he... |
OMIM:612394 |
Pfeiffer Syndrome Type 3 |
|
Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Aqueductal stenosis, Cleft palat... |
ORPHA:93260 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Short stature, Craniosynostosis, Cleft palate, Plagiocephaly, Decreased calvarial ossification, T... |
OMIM:618265 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart |
ORPHA:2001 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin clavicles, Delayed skeletal maturation, ... |
ORPHA:93324 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
Aspergillosis |
|
Osteomyelitis, Abnormal rib morphology, Abnormal long bone morphology, Intracranial hemorrhage, A... |
ORPHA:1163 |
Vater/Vacterl Association |
|
Occipital encephalocele, Syndactyly, Spina bifida, Absent radius, Short thumb, Esophageal atresia... |
OMIM:192350 |
Fg Syndrome 5 |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:300581 |
Spondyloocular Syndrome |
|
Long toe, Osteopenia, Femur fracture, Arachnodactyly, Overlapping toe, Posteriorly rotated ears, ... |
OMIM:605822 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Delayed skeletal maturation, Bell-shaped thorax, Pulmonary arterial hypertension... |
OMIM:614857 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Posteriorly rotated ... |
OMIM:605275 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short neck, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Narrow greater sciatic notc... |
OMIM:617925 |
Bruck Syndrome |
|
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon... |
ORPHA:2771 |
Monosomy 9P |
|
Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Congenital diaphragmati... |
ORPHA:261112 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... |
ORPHA:96180 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Hydrocephalus, Coarctation of aorta, Anotia, Microtia, Atresia of the ... |
ORPHA:268249 |
Emanuel Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Aortic valve stenosis, Recurr... |
OMIM:609029 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Abnormal substantia nigra morphology, Ataxia, Inability to walk, Atrophy... |
ORPHA:2822 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Lateral ventricle dilatation, Dilated third ventricle, Partial agenesis of the corpus callosum |
OMIM:617296 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Lumbar hyperlordosis, Transient ischemic attack, Ovoid vertebral bodies, Short neck, ... |
OMIM:242900 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:208500 |
Wolcott-Rallison Syndrome |
|
Atrial septal defect, Double outlet right ventricle |
ORPHA:1667 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Un... |
OMIM:615866 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Mixed hearing impairment, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspo... |
OMIM:126550 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cryptorchidism, Dysplastic corpus callosum, Hypospadias |
OMIM:620135 |
Cofs Syndrome |
|
Microphthalmia |
ORPHA:1466 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Posteriorly rotated ears, Short neck, Hydrocephalus, Cleft palate, Duodenal atresia, Short sternu... |
OMIM:257300 |
Raine Syndrome |
|
Hydrocephalus, Pulmonary hypoplasia |
OMIM:259775 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Flat occiput, Exencephaly, Brachycephaly, Long philtrum |
ORPHA:2211 |
Dextrocardia |
|
Abnormal EKG, Congenital hip dislocation, Intestinal malrotation, Hydrocephalus, Abnormal rib mor... |
ORPHA:1666 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Atelosteogenesis Type Ii |
|
Pulmonary hypoplasia |
ORPHA:56304 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Short metatarsal, Coxa vara, Deformed humeral heads, Platyspondy... |
OMIM:601438 |
Denys-Drash Syndrome |
|
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... |
OMIM:194080 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Overlapping toe, Endometriosis, Dysplastic corpus c... |
ORPHA:363444 |
Okamoto Syndrome |
|
Omphalocele, Exaggerated median tongue furrow, Prominent metopic ridge, Anal stenosis, Intestinal... |
ORPHA:2729 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Abnormal earlobe... |
ORPHA:141127 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... |
OMIM:610706 |
Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular... |
OMIM:252600 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
Cat Eye Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... |
OMIM:115470 |
Acitretin/Etretinate Embryopathy |
|
Cupped ear, Conotruncal defect, Microtia, Bilateral sensorineural hearing impairment, Atrioventri... |
ORPHA:40366 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Epiphyseal dysplasia, Inguinal hernia, Metatarsus adductus, Conductive hear... |
OMIM:611962 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, High palate, Conductive hearing impairment, Dislocated radial head, Joint... |
OMIM:102500 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
16P13.11 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Cleft palate, Holopro... |
ORPHA:261236 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Dysplastic corpus callosum, Sensorineural hearing impairment, Short 5th fi... |
ORPHA:557003 |
Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... |
OMIM:609162 |
Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Hearing impairment, Conductive hearing... |
OMIM:601808 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac... |
ORPHA:3003 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Posteriorly rotated ears, Tapered finger, Hyperlordosis, Hip dislocation, Cleft palate, Genu valg... |
OMIM:301066 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia, Microcephaly, Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Agenesis of co... |
OMIM:225790 |
Noonan Syndrome 10 |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Mitral valve prolapse,... |
OMIM:616564 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, Myocardial fibrosis, Transpo... |
OMIM:253800 |
Ververi-Brady Syndrome |
|
Macrotia, Cupped ear, Transposition of the great arteries, Low-set ears |
OMIM:617982 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... |
OMIM:108800 |
Dermotrichic Syndrome |
|
Aganglionic megacolon, Short nose, Macrotia, Depressed nasal bridge |
ORPHA:99688 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Primary amenorrhea |
ORPHA:247768 |
Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Recurrent otitis media, Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Codas Syndrome |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Sensorineural hearing impair... |
ORPHA:1458 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Pulmonary hypoplasia |
OMIM:214100 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Ventriculomegaly, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia ... |
OMIM:619179 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Abnormal lateral ventricle morphology, Bowing o... |
ORPHA:1855 |
Cystinosis, Nephropathic |
|
Hyponatremia, Retinal pigment epithelial mottling, Reduced blood urea nitrogen, Hypophosphatemia,... |
OMIM:219800 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Delayed tarsal ossification, ... |
OMIM:600002 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Anteriorly placed anus, Glossoptosis, High palate, Co... |
OMIM:117650 |
Desmosterolosis |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Intestinal malrotation, Abnormality of... |
ORPHA:35107 |
Lambert Syndrome |
|
Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Feingold Syndrome 1 |
|
Ventricular septal defect, Tricuspid stenosis, Posteriorly rotated ears, Patent ductus arteriosus... |
OMIM:164280 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Pulmonary artery hypoplasia, Pulmonary hypoplasia, Aortopulmonary window |
OMIM:620025 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Hyperactivity, Reduced cerebral white matter volume, Aggressive behavior, Sensorineural hearing i... |
OMIM:620075 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Toe syndactyly, Camptodactyly of finger, Microtia, Atresia of the external auditory ... |
ORPHA:920 |
Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Melanocytic Nevus Syndrome, Congenital |
|
Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip |
OMIM:137550 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Aase-Smith Syndrome I |
|
Abnormal pinna morphology, Hydrocephalus, Ventricular septal defect |
OMIM:147800 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Depressed nasal bridge, Posteriorly rotated ears, Long nose, Hydrocephalus, High palate, Low-set ... |
OMIM:618590 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thin bony cortex, Optic neuropathy, Increased intervertebral space, Broad ... |
OMIM:619727 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Median cleft lip and palate, Abnormal pi... |
OMIM:184705 |
Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... |
OMIM:121050 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Anencephaly, Cleft palate, Cleft upper lip |
OMIM:611561 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Short nose |
ORPHA:2429 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger... |
ORPHA:464 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Flat occiput, Severe short stature, High, narrow pala... |
ORPHA:2780 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pulmonary hypoplasia |
OMIM:208540 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation |
OMIM:614105 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Stillbirth, Prominent floating ribs, Malabsorption |
OMIM:152800 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Cerebellar vermis hypoplasia, Polyhydramnios, Accelerated skeletal maturation, Congenital diaphra... |
OMIM:312870 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As... |
ORPHA:402075 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta |
OMIM:217085 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Bulbous nose, Macrotia, Wide nasal bridge, Short nose |
OMIM:620292 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Polyhydramnios, Limited elbow movement, Thoracolumbar kyphosis, Increased intervertebral space, N... |
ORPHA:508533 |
Dental Anomalies And Short Stature |
|
Delayed skeletal maturation, Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narro... |
OMIM:601216 |
Marshall Syndrome |
|
Radial bowing, Coxa valga, Hypoplastic ilia, Ulnar bowing, Irregular femoral epiphysis, Wide tuft... |
OMIM:154780 |
Camptobrachydactyly |
|
Septate vagina |
OMIM:114150 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Delayed skeletal m... |
ORPHA:2107 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short nose, Wide nasal bridge, Cleft palate, Hearing impairment |
OMIM:614078 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, Cardiomegaly, Descendi... |
ORPHA:91387 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Tapered finger, Short 3rd toe, Short thumb, Dysplastic corpus callosum, Split hand, Microcephaly,... |
OMIM:618569 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Ataxia, Aggressive behavior, Dysmetria, Dysphagia, Cerebral atrophy, At... |
ORPHA:572798 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect |
ORPHA:3369 |
Alkuraya-Kucinskas Syndrome |
|
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Hydrocephalus, High palate, L... |
OMIM:617822 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Sensorineural hearing impairment, Coarctation of aorta, Hypoplastic le... |
OMIM:618748 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Optic disc pallor, Tethered cord, Hypospadias, Ataxia, Arachnodactyly, Coxa valga, Microcephaly, ... |
OMIM:620083 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Umbilical hernia, Pulmonary hypoplasia |
OMIM:308050 |
Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Intrauterine growth retardation, Short nose, Depressed nasal bridge, Low-set ears |
OMIM:614732 |
Schimke Immuno-Osseous Dysplasia |
|
Wide capital femoral epiphyses, Lumbar hyperlordosis, Ovoid vertebral bodies, Premature birth, Sh... |
ORPHA:1830 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Esophageal atresia, Tracheoesophageal ... |
OMIM:619859 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Dysmenorrhea, Decreased fe... |
ORPHA:90796 |
Pseudo-Torch Syndrome 2 |
|
Lateral ventricle dilatation, Ventriculomegaly |
OMIM:617397 |
Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Atresia of th... |
OMIM:612562 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI, Optic nerve hypoplasia, Postaxial polydactyly |
OMIM:619582 |
Fucosidosis |
|
Barrel-shaped chest, Cervical platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Coxa v... |
OMIM:230000 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ventricular septal defect, Posteriorly rotated ears, Asymmetry of the ears, Optic... |
ORPHA:508488 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, Aplasia of the uterus |
OMIM:146255 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Diffuse cerebral atrophy, Small scrotum, Proximal placement of thumb, 2-3 toe cuta... |
OMIM:270400 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Short middle phalanx of the 2nd finger, High, narrow palate,... |
OMIM:119600 |
Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo... |
OMIM:601005 |
Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... |
ORPHA:363705 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Short nose, High palate |
OMIM:615042 |
Orofaciodigital Syndrome Xvi |
|
Inguinal hernia, Hamartoma of tongue, Postaxial hand polydactyly, Postaxial foot polydactyly, Low... |
OMIM:617563 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Delayed skeletal matu... |
OMIM:244460 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
Pseudoaminopterin Syndrome |
|
Limited elbow movement, High palate, Patchy reduction of bone mineral density, Synostosis of carp... |
ORPHA:221120 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Thickened helices, Short nose, Hear... |
OMIM:618828 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Nestor-Guillermo Progeria Syndrome |
|
Wide cranial sutures, Lipoatrophy, Limited elbow movement, Delayed closure of the anterior fontan... |
OMIM:614008 |
Tarp Syndrome |
|
Glossoptosis, Small earlobe, Low-set, posteriorly rotated ears, Finger syndactyly, Scoliosis, Wid... |
ORPHA:2886 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Posteriorly rotated ears, Proximal placement of thumb, Partial agenesis of the corpus callosum, A... |
OMIM:620113 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Coiled sperm flagella, Short sperm flagella, Male infertility |
OMIM:620197 |
Waardenburg Syndrome |
|
Intestinal obstruction, Aplasia/Hypoplasia of the colon, Prominent nasal bridge, Aganglionic mega... |
ORPHA:3440 |
Cornelia De Lange Syndrome 1 |
|
Proximal placement of thumb, Short neck, Congenital diaphragmatic hernia, High, narrow palate, Hi... |
OMIM:122470 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Conotruncal defect, Coarctation of aorta, Abnormal cardiac septum morphology, Aortic valve stenos... |
ORPHA:96147 |
Distal Deletion 9P |
|
Low-set, posteriorly rotated ears, High, narrow palate, Aplasia/Hypoplasia of the earlobes, Wide ... |
ORPHA:1642 |
Oculocerebrorenal Syndrome Of Lowe |
|
Protruding ear, Chronic otitis media, Low-set, posteriorly rotated ears, Death in infancy, Osteom... |
ORPHA:534 |
3P25.3 Microdeletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Sensorineural hearing impairment, Abnormalit... |
ORPHA:435638 |
Lathosterolosis |
|
Anteverted nares, Bulbous nose, Meningocele, High palate, Intrauterine growth retardation, Short ... |
ORPHA:46059 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Sensorineural hearing impairment, Optic atro... |
OMIM:220500 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Posteriorly rotated ears, Prominent nasal bridge, Underdeveloped nasal alae, Intrauterine growth ... |
ORPHA:2083 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Ataxia, Aggressive behavior, Unsteady gait, Abnormal cerebral white m... |
ORPHA:457279 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus... |
ORPHA:210122 |
Fetal Hydantoin Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Depressed nasal ridge, Cleft palate... |
ORPHA:1912 |
Lowry-Wood Syndrome |
|
Epiphyseal dysplasia, Joint stiffness, Elbow dislocation, Delayed skeletal maturation, Coxa vara,... |
ORPHA:1824 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Atelis Syndrome 1 |
|
Atrial septal defect, Glue ear, Ventricular septal defect, Microtia |
OMIM:620184 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI, Optic disc pallor, Joint laxity |
OMIM:617121 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Anteverted nares, Abnormal soft palate morphology, Short nose, Anal at... |
ORPHA:884 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Low-set ears, Atr... |
ORPHA:96167 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Hearing abnormality, Intraventr... |
OMIM:616507 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Anteverted nares, Wide nasal bridge, High palate, Low-set ears, Short nose, ... |
OMIM:619383 |
Radio-Renal Syndrome |
|
Short neck, High, narrow palate, Hypoplasia of the radius, Abnormal rib morphology, Abnormality o... |
ORPHA:3015 |
Cog5-Cdg |
|
Diffuse cerebral atrophy, Cerebral white matter atrophy, Posteriorly rotated ears, Camptodactyly ... |
ORPHA:263487 |
Camptobrachydactyly |
|
Septate vagina |
ORPHA:1319 |
Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:616589 |
Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele |
OMIM:617255 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Lymphoid nodular hyperplasia, Short nose, Depressed nasal bridge |
ORPHA:210548 |
Periventricular Nodular Heterotopia 7 |
|
Short nose, Anteverted nares, Cleft palate, Sensorineural hearing impairment |
OMIM:617201 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
Myotubular Myopathy With Abnormal Genital Development |
|
Decreased fetal movement, Death in infancy, Polyhydramnios, Thin ribs, High palate, Neonatal deat... |
OMIM:300219 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose |
ORPHA:833 |
Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... |
OMIM:609583 |
Geroderma Osteodysplasticum |
|
Beaking of vertebral bodies, Hyperextensibility of the finger joints, Osteopenia, Recurrent fract... |
OMIM:231070 |
Orofaciodigital Syndrome Type 6 |
|
Low-set, posteriorly rotated ears, Syndactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasi... |
ORPHA:2754 |
Unilateral Ocular Duplication |
|
Encephalocele, Frontal bossing, Median cleft lip, Cleft palate, Dolichocephaly |
ORPHA:3374 |
Phakomatosis Pigmentokeratotica |
|
Coloboma, Spina bifida |
ORPHA:2874 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Multiple joint contractures, Short neck, Metaphyseal widening, Irregular vertebral endplates, Met... |
ORPHA:99646 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Ventricular septal defect, Coarctation of aorta, Round ear, Low-set ears, Subvalvular aortic sten... |
OMIM:614114 |
Down Syndrome |
|
Depressed nasal bridge, Aganglionic megacolon, Protruding tongue, Depressed nasal ridge, Narrow p... |
ORPHA:870 |
Fontaine Progeroid Syndrome |
|
Cerebellar vermis hypoplasia, High, narrow palate, Hypoplasia of the abdominal wall musculature, ... |
OMIM:612289 |
Desmosterolosis |
|
Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Hydrocephalus, Cupped ear, ... |
OMIM:602398 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose |
OMIM:611936 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Male urethral meatus stenosis, Cavum septum pellucidum, Dilated third ventricle, Agenesis of corp... |
ORPHA:464738 |
Non-Distal Duplication 13Q |
|
Abnormal antihelix morphology, Short nose, Aplasia/Hypoplasia of the earlobes, High palate |
ORPHA:1702 |
Arima Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem ... |
OMIM:243910 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neurofibrillary tangles, Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilata... |
OMIM:607485 |
Catel-Manzke Syndrome |
|
Joint dislocation, Short neck, Pectus carinatum, Glossoptosis, High palate, Clinodactyly of the 5... |
OMIM:616145 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Ventricular septal defect |
OMIM:235750 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Seckel Syndrome 9 |
|
Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect, Protruding ear |
OMIM:616777 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Abnormal pinna morphology, Short neck, Humeroradial synostosis, ... |
ORPHA:3404 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... |
ORPHA:90793 |
Bladder Exstrophy |
|
Omphalocele, Inguinal hernia, Intestinal malrotation, Umbilical hernia, Bladder exstrophy, Abnorm... |
ORPHA:93930 |
Gracile Bone Dysplasia |
|
Death in infancy, Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull... |
OMIM:602361 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI, 4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Mixed hearing impairment, Ventricular septal defect, Patent ductus arteriosus, Cupped ear, Sensor... |
OMIM:300472 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Aplasia of the ulna, Short neck, Abnormal tibia morpholo... |
ORPHA:2879 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Protruding tongue, Malabsorption, Macroglossia, Low-set... |
OMIM:242860 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Ventricular septal defect, Ascending tubular aorta aneurysm, Low-set ears, Atrial septal defect, ... |
OMIM:309520 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Abnormal pons morphology, Abnormal medulla oblong... |
ORPHA:206448 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syn... |
ORPHA:93322 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short nose, Delayed eruption of permanent teeth, Anteverted nares |
OMIM:619356 |
Ear-Patella-Short Stature Syndrome |
|
High, narrow palate, Anotia, Clinodactyly of the 5th finger, Bifid uvula, Microtia, third degree,... |
ORPHA:2554 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Flexion contracture, Hypoplasia of the br... |
OMIM:619306 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Patent ductus arteriosus, Overriding aorta, Ventricular septal defect |
OMIM:617021 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... |
ORPHA:3337 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Postaxial polydactyly, Joint contracture o... |
OMIM:619562 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Short nose, Microtia, Duodenal stenosis |
ORPHA:2547 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619769 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Patent ductus arteriosus, Sensorineural hearing impairment, Coarctation of aorta, Interrupted aor... |
ORPHA:17 |
Meier-Gorlin Syndrome 7 |
|
Pulmonary hypoplasia |
OMIM:617063 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Short nose, Macrotia, High palate, Wide nasal bridge |
OMIM:218000 |
Diffuse Neonatal Hemangiomatosis |
|
Abnormal vagina morphology |
ORPHA:2123 |
Diamond-Blackfan Anemia 8 |
|
Short nose, Wide nasal bridge |
OMIM:612563 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morphology, Ventricular se... |
ORPHA:99094 |
Trisomy 12P |
|
Wide nasal bridge, Cleft palate, Abnormal antihelix morphology, Low-set ears, Short nose, Anal at... |
ORPHA:1699 |
Stickler Syndrome |
|
Joint dislocation, Osteoarthritis, Bone pain, Abnormal form of the vertebral bodies, Pectus carin... |
ORPHA:828 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Broad nasal tip, Recurrent upper respiratory tract infections, Prominent nasolabial fold, Hypopla... |
ORPHA:391372 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventricular septal defect, Vascular dilatation |
OMIM:219730 |
Jansen-De Vries Syndrome |
|
Posteriorly rotated ears, Ventricular septal defect, Bicuspid aortic valve, Low-set ears |
OMIM:617450 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Colpocephaly, Agenesis of corpus callosum, Decreased response to growth hormone stimulation test,... |
OMIM:617260 |
Osteogenesis Imperfecta, Type Xx |
|
Tented upper lip vermilion, Brachycephaly, Narrow palate, Agenesis of permanent teeth, Plagioceph... |
OMIM:618644 |
Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Shortening of all middle phalanges of the fingers, Hypospadias, Proximal placement... |
OMIM:140000 |
Momo Syndrome |
|
Delayed eruption of teeth, Underfolded helix, Short neck, Delayed skeletal maturation, Short ster... |
OMIM:157980 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI, Syndactyly |
OMIM:617767 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Pearson Syndrome |
|
Hypophosphatemia, Pigmentary retinopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia, Hyperalaninemia |
ORPHA:699 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Depressed nasal bridge, Hydrocephalus, Cleft palate, Low-set ears, Short nose |
ORPHA:1812 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Hydro... |
ORPHA:667 |
Xylt1-Cdg |
|
Joint dislocation, Joint laxity, Coxa valga, Accelerated skeletal maturation, Flared metaphysis, ... |
ORPHA:370930 |
Encephalocraniocutaneous Lipomatosis |
|
Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Interrupted aortic ar... |
ORPHA:2396 |
Shwachman-Diamond Syndrome 1 |
|
Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal sclerosis, Enlargement of the costochon... |
OMIM:260400 |
Warburg Micro Syndrome 1 |
|
Microphthalmia |
OMIM:600118 |
Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Hearing impairment |
ORPHA:46627 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating fatty-acid concentration, Insulin resistance, Fasting hyperinsulinemia, Insu... |
ORPHA:2298 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Glycosuria |
OMIM:618857 |
Aica-Ribosiduria |
|
Wide mouth, Thin upper lip vermilion, Brachycephaly |
ORPHA:250977 |
Suleiman-El-Hattab Syndrome |
|
Optic disc pallor, Ventricular septal defect, Protruding ear, Low-set ears, Atrial septal defect,... |
OMIM:618950 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Aganglionic megacolon, Hydrocephalus, Wide nasal bridge, Microtia, Short columella, Low-set ears,... |
OMIM:613603 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Microcephaly, Rocker bottom foot, Camptodactyly |
OMIM:604273 |
Leukodystrophy, Hypomyelinating, 10 |
|
Anteverted nares, Bulbous nose, Low-set ears, Hypoplasia of the antihelix, Short nose, Hearing im... |
OMIM:616420 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Joint stiffness, Split hand, Abnormal rib morphology, Cleft pa... |
ORPHA:1300 |
Crouzon Syndrome |
|
Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hydrocephalus, Brachycephaly, High p... |
OMIM:123500 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI, Polydactyly |
OMIM:617120 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Bilateral sensorineural hearing impairment |
OMIM:619083 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... |
OMIM:602080 |
Muenke Syndrome |
|
High, narrow palate, Hydrocephalus, Brachycephaly, Plagiocephaly, Coronal craniosynostosis |
ORPHA:53271 |
16P12.1P12.3 Triplication Syndrome |
|
High, narrow palate, Bulbous nose, Large earlobe, Low-set ears, Intrauterine growth retardation, ... |
ORPHA:485405 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis, Narrow palate, Mi... |
OMIM:277600 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Depressed nasal bridge, Bilateral conductive hearing impairment, Low-set ears, Volvu... |
OMIM:617802 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation |
OMIM:612863 |
Turnpenny-Fry Syndrome |
|
Cerebellar vermis hypoplasia, Polyhydramnios, Pectus carinatum, Prominent interphalangeal joints,... |
OMIM:618371 |
Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Optic atrophy, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Coffin-Siris Syndrome 7 |
|
Ventricular septal defect, Bicuspid aortic valve, Posteriorly rotated ears, Low-set ears, Recurre... |
OMIM:618027 |
Ablepharon-Macrostomia Syndrome |
|
Omphalocele, Ventral hernia, Short metacarpal, Toe syndactyly, Microtia, third degree, Anteriorly... |
OMIM:200110 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Vasculitis, Ascending tubular aorta a... |
ORPHA:2331 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Intrauterine growth retardation, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:614613 |
Peho Syndrome |
|
Anteverted nares, External ear malformation, Hydrocephalus, Short nose, Macrotia |
ORPHA:2836 |
Ohdo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Microtia, Short nose, Hearing impair... |
OMIM:249620 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Abnormal substantia nigra morphology, Genu recurvatum,... |
ORPHA:79139 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Optic atrophy, Atrial septal ... |
OMIM:614576 |
X Small Rings |
|
Ventricular septal defect, Bicuspid aortic valve, Protruding ear, Aortic root aneurysm, Mitral st... |
ORPHA:96201 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Optic disc pallor, Polyhydramnios, Tapered finger, Pectus excavatum, Kyphos... |
ORPHA:464311 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia |
ORPHA:48431 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Aganglionic megacolon, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:452 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Depressed nasal bridge, Bulbous nose, Protruding ear, Abnormal antihelix morphology, Macroglossia... |
ORPHA:261144 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Partial agenesis of the corpus callosum, Prominent interphalange... |
OMIM:135900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Exstrophy-Epispadias Complex |
|
Omphalocele, Inguinal hernia, Anal stenosis, Spina bifida, Hydrocephalus, Abnormal joint morpholo... |
ORPHA:322 |
Gomez-Lopez-Hernandez Syndrome |
|
Posteriorly rotated ears, Anteverted nares, High palate, Low-set ears, Short nose |
OMIM:601853 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Short nose, High palate, Protruding ear |
OMIM:615539 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Toriello-Carey Syndrome |
|
Abnormal pinna morphology, Aganglionic megacolon, Patent ductus arteriosus, Coarctation of aorta,... |
ORPHA:3338 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Anteverted nares, Choanal atresia, Esophageal atresia, Overfolded helix, Cleft palate, Microtia, ... |
OMIM:610536 |
Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Cranium bifidum occultum, Shor... |
OMIM:229400 |
Penile Agenesis |
|
Bilateral lung agenesis, Pulmonary hypoplasia |
ORPHA:49 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Wide nose, Depressed nasal ridge, Short nose |
ORPHA:2831 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Capitate-hamate fusion, Postaxial hand polydactyly, Pectu... |
OMIM:225500 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Proximal placement of thumb, Cryptorchidism, Protruding ear, Colpocephaly... |
ORPHA:261250 |
Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Posteriorly rotated ears, Coronary artery fistula, Abnor... |
OMIM:614294 |
Aspartylglucosaminuria |
|
Inguinal hernia, Abnormal morphology of ulna, Joint stiffness, Malabsorption, Delayed skeletal ma... |
ORPHA:93 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Hearing impairment, Optic atrophy, Low-set ears, Atrial septal defect,... |
OMIM:614261 |
Desbuquois Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect |
ORPHA:1425 |
Non-Syndromic Posterior Hypospadias |
|
Omphalocele, Congenital diaphragmatic hernia, Esophageal atresia, Cleft palate, Anal atresia |
ORPHA:95706 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Microtia, Atresia of the external a... |
ORPHA:1770 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Diamond-Blackfan Anemia 10 |
|
Ventricular septal defect, Posteriorly rotated ears, Patent ductus arteriosus, Microtia, Atresia ... |
OMIM:613309 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Ventricular septal defect, Pericardial effusion, Hypertrophic cardiomyopathy, Persis... |
OMIM:618775 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Short nose, Uplifted earlobe |
OMIM:300143 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Omphalocele, Death in infancy, Intestinal malrotation, Polyhydramnios, Umbilical hernia, Microcolon |
ORPHA:2241 |
Cdags Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Rectourethral fistula, Brachycepha... |
OMIM:603116 |
Burn-Mckeown Syndrome |
|
Ventricular septal defect, Conductive hearing impairment, Protruding ear, Atrial septal defect, H... |
OMIM:608572 |
Congenital Toxoplasmosis |
|
Microphthalmia |
ORPHA:858 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Hydrocephalus, Subvalvular aortic stenosis, Atrial septal defect, Peri... |
OMIM:613001 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Patent ductus arteriosus, Optic atr... |
ORPHA:457193 |
Alagille Syndrome 2 |
|
Atrial septal defect, Tetralogy of Fallot, Pulmonic stenosis, Peripheral pulmonary artery stenosis |
OMIM:610205 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Ascending tubular ao... |
ORPHA:453499 |
16P11.2P12.2 Microdeletion Syndrome |
|
Anteverted nares, Abnormal pinna morphology, Long nose, Bulbous nose, Absent nasal bridge, Low-se... |
ORPHA:261211 |
Acrodysostosis |
|
Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, Wide ... |
ORPHA:950 |
Chops Syndrome |
|
Brachydactyly, Tracheomalacia, High, narrow palate, Optic atrophy, Thickened helices, Cervical C2... |
OMIM:616368 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia |
OMIM:613155 |
Mccune-Albright Syndrome |
|
Hypophosphatemia |
ORPHA:562 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Mixed hearing impairment, Depressed nasal bridge, Anteverted nares, Cleft soft palate, Sensorineu... |
OMIM:616331 |
Den Hoed-De Boer-Voisin Syndrome |
|
Ataxia, Posteriorly rotated ears, Sandal gap, Microcephaly, Inability to walk, Small hand, 2-3 to... |
OMIM:619229 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormal vena cava morphology, Macrotia, Ventricular septal defect, Low-set ears |
ORPHA:166035 |
Isolated Anencephaly |
|
Omphalocele, Intrauterine growth retardation, Congenital diaphragmatic hernia |
ORPHA:563609 |
Pontocerebellar Hypoplasia Type 10 |
|
Optic atrophy, Abnormal brainstem morphology |
ORPHA:411493 |
Au-Kline Syndrome |
|
Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal tip, Sensorineur... |
OMIM:616580 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Low-set ears, Pulmonic stenosis, Atrial sept... |
OMIM:615102 |
Ravine Syndrome |
|
Abnormal brainstem morphology, Abnormal auditory evoked potentials, Atrophy/Degeneration affectin... |
ORPHA:99852 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Ba... |
ORPHA:99095 |
Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures, Abnormal trabecular bone morphology, Death in infancy, Femur fracture, Hy... |
OMIM:612301 |
Autosomal Dominant Centronuclear Myopathy |
|
Decreased fetal movement, Miscarriage, Polyhydramnios, Pyloric stenosis, Thin ribs |
ORPHA:169189 |
Kleefstra Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Pulmonary artery stenosis, Coarctation of aorta... |
ORPHA:261494 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Arachnodactyly, Hydrocephalus, Abnormal brainstem morphology, Reduced bone mineral density, High ... |
ORPHA:2720 |
Alg12-Cdg |
|
Hyponatremia, Recurrent hypoglycemia, Hypoalbuminemia, Hypocholesterolemia |
ORPHA:79324 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Glossoptosis, High palate, Conductive hearing impairment, Abnormal vertebral morphology, Low-set,... |
ORPHA:444077 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia, Wide nasal bridge |
OMIM:175700 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Inguinal hernia, Tricuspid regurgitation, Camptodactyly of finger, Pectus excavatum, High, narrow... |
ORPHA:1101 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Retinal calcification, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:93325 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Short nose, Anteverted nares |
OMIM:619854 |
Cranioectodermal Dysplasia 2 |
|
Polyhydramnios, Short neck, Hydrops fetalis, High palate, Narrow chest, Simple ear, Joint laxity,... |
OMIM:613610 |
Filippi Syndrome |
|
Optic atrophy, Ventricular septal defect |
OMIM:272440 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, Hyper... |
OMIM:608612 |
Fetal Alcohol Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Cleft palate, Intrauterine growth retardatio... |
ORPHA:1915 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Lateral ventricle dilatation |
OMIM:619847 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax... |
ORPHA:93357 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect, Protruding ear |
ORPHA:2256 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Telangiectasia of the skin, Vertigo, Optic atrophy, Abnormal brainstem morphology, Telangiectasia... |
ORPHA:79279 |
Intellectual Disability-Strabismus Syndrome |
|
Depressed nasal bridge, Narrow nasal ridge, Prominent nose, High palate, Low-set ears, Intrauteri... |
ORPHA:363528 |
Generalized Arterial Calcification Of Infancy |
|
Polyhydramnios, Hydrops fetalis, Abnormal calcification of the carpal bones, Hypophosphatemic ric... |
ORPHA:51608 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Posteriorly rotated ears, Underdeveloped antitragus, Abnormal preputium morphology, Choroid plexu... |
ORPHA:293725 |
Neurocutaneous Melanocytosis |
|
Meningocele, Chorioretinal coloboma |
ORPHA:2481 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Lateral ventricle dilatation,... |
ORPHA:2148 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Cleft palate, Short nos... |
OMIM:614749 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Ventricular septal defect, Sensorineural hearing impairment, Abnormal earlobe ... |
ORPHA:261330 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Wide nasal bridge, Narrow palate, Microtia, Short nose, Macrotia, Hearing impairment |
OMIM:620250 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Ventricular septal defect, Abnormal pinna morphology, Protruding ear, Low-set ears, Atrial septal... |
OMIM:617452 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Depressed nasal bridge, Bulbous nose, Wide nasal bridge, High palate, Overfolded helix, Macrotia,... |
OMIM:617061 |
5Q14.3 Microdeletion Syndrome |
|
Short nose, Anteverted nares |
ORPHA:228384 |
Infantile Liver Failure Syndrome 3 |
|
Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver... |
OMIM:618641 |
Al-Raqad Syndrome |
|
Short nose, Low-set ears |
OMIM:616459 |
Developmental And Epileptic Encephalopathy 75 |
|
Short nose, Anteverted nares, Wide nasal bridge |
OMIM:618437 |
Floating-Harbor Syndrome |
|
Short neck, Short middle phalanx of the 2nd finger, Conductive hearing impairment, Clinodactyly o... |
OMIM:136140 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Underdeveloped nasal alae, Malabsorption, Sensorineural hearing impair... |
ORPHA:2315 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Hydrocephalus, Optic atrop... |
OMIM:236670 |
Orofaciodigital Syndrome Type 4 |
|
Bilateral lung agenesis, Recurrent respiratory infections, Pulmonary hypoplasia |
ORPHA:2753 |
Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Cerv... |
ORPHA:573278 |
Tetrasomy 18P |
|
Low-set, posteriorly rotated ears, Short nose |
ORPHA:3307 |
Silver-Russell Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of male external genitalia, Hypospadias, Sandal ga... |
ORPHA:813 |
Cole Disease |
|
Hyperglycemia, Abnormal blood phosphate concentration |
OMIM:615522 |
Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widen... |
OMIM:259770 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Wide nose, Anteverted nares, Sensorineural hearing impairment, Intrauterine growth retardation, S... |
ORPHA:391408 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Hydrocephalus, Vasculitis, Osteolysis, Abnormal long bone morphology... |
ORPHA:228123 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Wide distal... |
OMIM:269150 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Hallux valgus, Posteriorly rotated ears, Sandal gap, Cryptorchidism, Long fingers,... |
OMIM:617557 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Steatorrhea, Hypocholesterolemia |
OMIM:212065 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Conductive hearing impairment, Patent ductus arteriosus, Low-set ears,... |
OMIM:244300 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Postaxial hand polydactyly, Abnormal rib morphology, Pulmonary arterial hypertension, Abnormal st... |
ORPHA:2519 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef... |
OMIM:235510 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia |
OMIM:613730 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Toe syndactyly, Septate vagina, 4-5 toe syndactyly, 3-5 toe syndactyly, Bicornuate uterus, Rectov... |
OMIM:300707 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Hypomandibular Faciocranial Dysostosis |
|
Anteverted nares, Aplasia/Hypoplasia of the tongue, Cleft palate, Choanal stenosis, Low-set ears,... |
ORPHA:1790 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Perlman Syndrome |
|
Low-set ears, Interrupted aortic arch |
OMIM:267000 |
Congenital Disorder Of Glycosylation, Type It |
|
Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Coarctation of aorta, Recurrent ... |
OMIM:614921 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619909 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Macrotia, Ventricular septal defect |
OMIM:618504 |
Childhood Absence Epilepsy |
|
Punding, Jerky head movements, Attention deficit hyperactivity disorder |
ORPHA:64280 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Depressed nasal bridge, Posteriorly rotated ears, Bulbous nose, Low-set ears, Short nose |
OMIM:618430 |
Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Posteriorly rotated ears, Patent ductus arteriosus, Cardiomyopathy, Aortic ... |
OMIM:135500 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal cerebellum morphology, Agenesis of corpus callosum, Abnormal brainstem morphology |
ORPHA:255182 |
Proteus Syndrome |
|
Pulmonary embolism, Abnormal finger morphology, Abnormal form of the vertebral bodies, Clinodacty... |
ORPHA:744 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Hy... |
ORPHA:14 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Histiocytoid ca... |
OMIM:309801 |
Bainbridge-Ropers Syndrome |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Broa... |
OMIM:615485 |
Curry-Jones Syndrome |
|
Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningocele, 2-3 finger syndact... |
OMIM:601707 |
Townes-Brocks Syndrome |
|
Anteriorly placed anus, Triphalangeal thumb, Clinodactyly of the 5th finger, Abnormal vertebral m... |
ORPHA:857 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Congenital Horner syndrome, Ventricular septal defect, Mitral atresia, Ascending aorta hypoplasia... |
OMIM:619503 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94089 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Thin upper lip vermilion, Thick lower lip vermilion, Cranial asymmetry, Long philtrum |
ORPHA:137634 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, 11 pairs of ribs, Absent ... |
OMIM:615287 |
Autosomal Recessive Omodysplasia |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Low-set ears, Short nose |
ORPHA:93329 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increased susceptibil... |
OMIM:166220 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Prominent metopic ridge, Diastasis recti, Accelerated skeletal maturation, Macroglos... |
OMIM:130650 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Tethered cord, Spinal dysraphism |
OMIM:612918 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Joint laxity, Short neck, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabul... |
OMIM:610442 |
Semilobar Holoprosencephaly |
|
Sensorineural hearing impairment, Hydrocephalus, Hip dislocation, Abnormal brainstem morphology, ... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Sensorineural hearing impairment, Hydrocephalus, Hip dislocation, Abnormal brainstem morphology, ... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Sensorineural hearing impairment, Hydrocephalus, Hip dislocation, Abnormal brainstem morphology, ... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Sensorineural hearing impairment, Hydrocephalus, Hip dislocation, Abnormal brainstem morphology, ... |
ORPHA:93924 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Spina bifida occulta, Protruding ear, Micro... |
OMIM:301030 |
Smith-Kingsmore Syndrome |
|
Umbilical hernia, Short nose, Depressed nasal bridge |
OMIM:616638 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Kaufman Oculocerebrofacial Syndrome |
|
Short nose, Hypocholesterolemia |
OMIM:244450 |
Meier-Gorlin Syndrome 6 |
|
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Underdeveloped nasal alae, De... |
OMIM:616835 |
Joubert Syndrome 8 |
|
Molar tooth sign on MRI, Occipital encephalocele, Optic disc pallor |
OMIM:612291 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose |
ORPHA:85277 |
Woods Syndrome |
|
Optic atrophy, Ventricular septal defect |
OMIM:615236 |
Braddock-Carey Syndrome 1 |
|
Posteriorly rotated ears, Macrotia, Aortic valve prolapse, Ventricular septal defect |
OMIM:619980 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Wide nasal bridge, High palate, Intrauterine... |
ORPHA:2510 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Baraitser-Winter Syndrome 1 |
|
Anteverted nares, Sensorineural hearing impairment, Wide nasal bridge, Low-set ears, Overfolded h... |
OMIM:243310 |
Elsahy-Waters Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Posteriorly rotated ears, Pectus excavatum, Abnormality... |
OMIM:211380 |
47,Xyy Syndrome |
|
Hydrocephalus, Abnormal brainstem morphology, Finger clinodactyly, Low-set ears, Dysgenesis of th... |
ORPHA:8 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:300952 |
Pelger-Huet Anomaly |
|
Recurrent otitis media, Umbilical hernia, Ventricular septal defect |
OMIM:169400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Dilation of Virchow-Robin spaces, Ventricular septal defect, Pulmonary artery stenosis, Absent an... |
OMIM:300998 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Abnormal dental enamel morphology, Tracheoesophageal fistula, C... |
ORPHA:861 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Short nose |
OMIM:618618 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
Smith-Magenis Syndrome |
|
Depressed nasal bridge, Anteverted nares, Delayed eruption of primary teeth, Wide nasal bridge, C... |
ORPHA:819 |
Microphthalmia With Limb Anomalies |
|
Posteriorly rotated ears, Depressed nasal bridge, Flared nostrils, Cleft palate, High palate, Low... |
OMIM:206920 |
Orofaciodigital Syndrome Type 14 |
|
Low-set, posteriorly rotated ears, Dilated fourth ventricle, Broad hallux, Deviation of the hallu... |
ORPHA:434179 |
Sotos Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Conductive hearing impairment, Patent ductus... |
OMIM:117550 |
Congenital Disorder Of Glycosylation, Type Il |
|
Short nose, Depressed nasal bridge, Low-set ears |
OMIM:608776 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:2835 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Recurrent otitis media, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Metatarsus adductus, Cryptorchidism, Sensorineural hearing impairment, Optic nerve d... |
OMIM:614866 |
Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent pneumonia, Spontaneous pneumothorax, Pulmonary hypoplasia |
ORPHA:731 |
Orofaciodigital Syndrome V |
|
Ventricular septal defect, Aganglionic megacolon, Optic disc coloboma, Low-set ears, Tetralogy of... |
OMIM:174300 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Conductive hearing impairment, Patent ductus arteriosus, Ventricular septal defect, Atresia of th... |
OMIM:106260 |
Dpagt1-Cdg |
|
Pulmonary hypoplasia |
ORPHA:86309 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Thickened helices, Posteriorly rotated ears, Patent ductus arteriosus,... |
OMIM:609942 |
Duplication Of Urethra |
|
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... |
ORPHA:237 |
Harel-Yoon Syndrome |
|
Short nose |
OMIM:617183 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
Colonic Atresia |
|
Omphalocele, Peptic ulcer, Duodenal stenosis, Gastroschisis, Colonic atresia |
ORPHA:1198 |
King-Denborough Syndrome |
|
Ventricular septal defect, Low-set ears |
OMIM:619542 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Small earlobe, Prominent nasal bridge, Underdeveloped nasal alae, Bulbous nose, Microglossia, Cle... |
ORPHA:364577 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
Marshall-Smith Syndrome |
|
Anteverted nares, Choanal atresia, Protruding tongue, Conductive hearing impairment, Short nose |
ORPHA:561 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Osteopenia, Scapular winging, Congenital hip dislocation, Inguinal her... |
OMIM:278250 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Intracranial hemorrhage, Ventricular hypertrophy, Ventricular septal defect, Tinnitus |
ORPHA:369929 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Femoral bowing, Inc... |
OMIM:166200 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Dysplastic corpus callosum, Leukoencephalopathy, Bradykinesia, Hypoplasia of the corpus callosum,... |
OMIM:614924 |
Hemimegalencephaly |
|
Cranial asymmetry |
ORPHA:99802 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Bulbous nose, Wide nasal bridge, Cleft palate, Protruding ear, Low-set ears, Short nose |
OMIM:618571 |
Mowat-Wilson Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Uplifted earlobe, Aganglionic megacolon, Pulmo... |
OMIM:235730 |
Pde4D Haploinsufficiency Syndrome |
|
Depressed nasal bridge, Posteriorly rotated ears, Hearing impairment, Prominent nose, Prominent n... |
ORPHA:439822 |
Roifman Syndrome |
|
Recurrent otitis media, Noncompaction cardiomyopathy, Ventricular septal defect |
OMIM:616651 |
Phace Syndrome |
|
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart... |
ORPHA:42775 |
Sandifer Syndrome |
|
Abnormal head movements |
ORPHA:71272 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal medulla oblongata morphology, Stiff neck, Facial palsy, Abnormal midbrain morphology, Ab... |
ORPHA:68 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Atrial septal defec... |
OMIM:620024 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Ventricular septal defect, Posteriorly rotated ears, Low-set ears, Atrial septal defect, Overfold... |
OMIM:617360 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Coarctation of aorta |
OMIM:617602 |
Cardiofaciocutaneous Syndrome 1 |
|
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Bulbous nose, Hydrocephalus, ... |
OMIM:115150 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Anterior rib cupping, Horizontal inferior border of scapula, Platyspondyly, Abnormal pelvic girdl... |
OMIM:102700 |
20Q11.2 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, T... |
ORPHA:363659 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the external ear, Low-set ears, Atrial septal de... |
ORPHA:505237 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula |
ORPHA:2736 |
Rere-Related Neurodevelopmental Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Optic atrophy, Abnormal heart morph... |
ORPHA:494344 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Anteverted nares, High palate, Low-set ears, Intrauterine growth retardation, Short nose |
OMIM:219200 |
Faciocardiorenal Syndrome |
|
Cleft palate, Plagiocephaly, Hypodontia, Narrow mouth, Smooth philtrum |
ORPHA:1973 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Frontal bossing, Abnormal dental morphology, Abnormal dental enamel morphology, Parietal foramina... |
ORPHA:85199 |
Jacobsen Syndrome |
|
Anteverted nares, Depressed nasal bridge, Pyloric stenosis, Hydrocephalus, Holoprosencephaly, Low... |
OMIM:147791 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Hyperglycemia |
OMIM:615954 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, Sensorineural hearing impairment, Hydrocephalus, Low-set ears, Recurre... |
OMIM:619575 |
Distal Deletion 19P |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Sensorineural hearing impairment, T... |
ORPHA:96129 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Abnormal rib morphology, ... |
ORPHA:2907 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Otosclerosis, Papilledema, Abnormal heart valve morphology, Abnormal... |
ORPHA:580 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Umbilical hernia, Ventricular septal defect, Optic nerve hypoplasia |
OMIM:615879 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:168558 |
Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
Pontocerebellar Hypoplasia, Type 8 |
|
Posteriorly rotated ears, Ventricular septal defect, Patent foramen ovale, Low-set ears |
OMIM:614961 |
Holoprosencephaly 3 |
|
Proboscis, Cleft lip, Cleft palate, Holoprosencephaly, Midface retrusion, Solitary median maxilla... |
OMIM:142945 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Advanced eruption of teeth, Short nose, Depressed nasal bridge, Broad columella |
OMIM:617865 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Wide nasal bridge, Lo... |
OMIM:616430 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Flexion contracture, Narrow chest, Small earlobe, Agenesis of corpus callosum, Dandy-... |
OMIM:264090 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir... |
OMIM:614643 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose |
ORPHA:289266 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida, Lisch nodules |
OMIM:162200 |
Dend Syndrome |
|
Short nose, Elevated hemoglobin A1c, Hyperglycemia |
ORPHA:79134 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:289548 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Short toe, Sensorineural hearing impairment, Cone-shaped epiphyses of the phalanges o... |
OMIM:619269 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
Seckel Syndrome 2 |
|
Microphthalmia |
OMIM:606744 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
Prolidase Deficiency |
|
High palate, Short nose, Concave nasal ridge, Depressed nasal bridge |
OMIM:170100 |
6Q Terminal Deletion Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the ribs, Hallux valgus, Hypospadias, Ph... |
ORPHA:75857 |
Choreoacanthocytosis |
|
Caudate atrophy, Chorea, Compulsive behaviors, Loss of ambulation, Small basal ganglia, Decreased... |
ORPHA:2388 |
Distal Deletion 3P |
|
Short stature, Brachycephaly, Cleft palate, Downturned corners of mouth, Thin vermilion border, H... |
ORPHA:1620 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:618870 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short nose |
ORPHA:1389 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Anteverted nares, Underdeveloped nasal alae, Wide nasal bridge, Low-set ears, Intrauterine growth... |
OMIM:613026 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Aganglionic megacolon, Broad nasal tip, Sensorineural hearing impairment, Wide nas... |
OMIM:614207 |
Ogden Syndrome |
|
Pulmonary artery stenosis, Pulmonary hypoplasia, Umbilical hernia, Peripheral pulmonary artery st... |
OMIM:300855 |
Ring Chromosome 7 Syndrome |
|
Small earlobe, Anteverted nares, Prominent nasal bridge, Prominent crus of helix, Wide nasal brid... |
ORPHA:1449 |
Kleefstra Syndrome 1 |
|
Abnormal pinna morphology, Conotruncal defect, Hearing impairment |
OMIM:610253 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia |
OMIM:613153 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Depressed nasal bridge, Anteverted nares, High palate, Low-set ears, Short nose |
ORPHA:314655 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Low-set ears |
ORPHA:261190 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Short nose, Sensorineural hearing impairment |
ORPHA:544503 |
Parathyroid Carcinoma |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Lathosterolosis |
|
Anteverted nares, Myelomeningocele, Wide nasal bridge, High palate, Conductive hearing impairment... |
OMIM:607330 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... |
OMIM:151660 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Prominent nasal bridge, Malabsorption, Cleft palate, Anteriorly placed anus,... |
ORPHA:1225 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
19P13.3 Microduplication Syndrome |
|
Posteriorly rotated ears, Microtia, Ventricular septal defect, Low-set ears |
ORPHA:447980 |
Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
Doors Syndrome |
|
Optic atrophy, Sirenomelia, Atresia of the external auditory canal, Low-set ears, Double outlet r... |
ORPHA:79500 |
Ritscher-Schinzel Syndrome 2 |
|
Patent ductus arteriosus, Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal d... |
OMIM:300963 |
Loeys-Dietz Syndrome 5 |
|
Ventricular septal defect, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defec... |
OMIM:615582 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
7Q11.23 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Hearing impairment, Patent ductus a... |
ORPHA:96121 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Female infertility... |
ORPHA:572333 |
Pontocerebellar Hypoplasia, Type 10 |
|
Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, High palate, Short nose, Low hanging ... |
OMIM:615803 |
Tetrasomy 9P |
|
Juxtaductal coarctation of the aorta, Pericarditis, Glue ear, Dextrocardia, Hydrocephalus, Abnorm... |
ORPHA:3310 |
Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Wide nasal bridge, Cl... |
ORPHA:560 |
Bartsocas-Papas Syndrome |
|
Short nose, Cleft palate, Underdeveloped nasal alae |
ORPHA:1234 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Depressed nasal bridge, Anteverted nares, Macroglossia, Concave nasal ridge, Short nose |
OMIM:613038 |
Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Hydrocephalus, Submu... |
ORPHA:1340 |
Pierson Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic... |
OMIM:609049 |
Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Bifid uvula, Joint laxity, Ar... |
ORPHA:284984 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... |
ORPHA:1435 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology, Accelerated skeletal maturation, Celiac disease, Sensorineural hear... |
ORPHA:293987 |
Floating-Harbor Syndrome |
|
Enlarged joints, Short neck, Humeral pseudarthrosis, Conductive hearing impairment, Dislocated ra... |
ORPHA:2044 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Prominent nasal bridge, Broad nasal tip, Sensorineural hearing impairment, Wide nasal bridge, Hig... |
OMIM:300749 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Precocious puberty, Upper limb undergrowth, Slender long bone, Low-set ears, Jerky head movements... |
ORPHA:369837 |
Dent Disease |
|
Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
Dubowitz Syndrome |
|
Wide nasal bridge, Hypocholesterolemia |
OMIM:223370 |
Kury-Isidor Syndrome |
|
Recurrent otitis media, Ventricular septal defect, Low-set ears |
OMIM:619762 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Prominent nose, Bulbous nose, Cupped ear, Depressed nasal ridge, Protruding ear, Macroglossia, Sh... |
OMIM:156200 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Anteverted ears, Short nose |
OMIM:618087 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Thickened helices, Posteriorly rotated ears, Pulmonic stenosis, Low-se... |
OMIM:610733 |
19P13.13 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Macroglossia, High palate, Low-set ears, Short nose, Ma... |
ORPHA:357001 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Depressed nasal bridge, Anteverted nares, High palate, Low-set ears, Short nose |
OMIM:615398 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Optic atrophy, Abnormal brai... |
ORPHA:98755 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Hydrocephalus, Dilated third ventricle, Ventriculomegaly |
ORPHA:500055 |
Diets-Jongmans Syndrome |
|
Ventricular septal defect, Interrupted inferior vena cava with azygous continuation, Long ear, Um... |
OMIM:618846 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Ventricular septal defect, Patent ductus arteriosus, Optic disc coloboma, Hydr... |
ORPHA:261337 |
Tick-Borne Encephalitis |
|
Back pain, Abnormal medulla oblongata morphology, Stiff neck, Facial palsy, Abnormal brainstem MR... |
ORPHA:297 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Protruding tongue, Sensorineu... |
OMIM:301040 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... |
ORPHA:90363 |
Beck-Fahrner Syndrome |
|
Protruding ear, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia |
OMIM:214150 |
Autosomal Dominant Omodysplasia |
|
Short nose, Depressed nasal bridge |
ORPHA:93328 |
Noonan Syndrome 14 |
|
Lateral ventricle dilatation |
OMIM:619745 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia, Optic atrophy |
OMIM:101800 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hypoglycemia, Hyperammonemia |
OMIM:615453 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia, Anencephaly |
ORPHA:2189 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Depressed nasal bridge, Underdeveloped nasal alae, Hydrocephalus, Sensorineural hearing impairmen... |
OMIM:616007 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
Aarskog-Scott Syndrome |
|
Anteverted nares, Wide nasal bridge, Cleft palate, Large earlobe, Short nose |
OMIM:305400 |
Carey-Fineman-Ziter Syndrome |
|
Anteverted nares, Aplasia/Hypoplasia of the tongue, Cleft palate, Glossoptosis, High palate, Shor... |
ORPHA:1358 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold |
OMIM:221900 |
Bresek Syndrome |
|
Microphthalmia, Optic nerve hypoplasia |
ORPHA:85284 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect, Low-set ears |
OMIM:616901 |
Mgat2-Cdg |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Posteriorly rotated ears, Patent du... |
ORPHA:79329 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect, Low-set ears |
OMIM:612528 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth ... |
OMIM:610688 |
Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Depressed nasal bridge, Narrow naris, Sensorineural hearing impairment |
OMIM:122880 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Myocardial infarction, Short neck, High, narrow palate, Reduced bone mineral density,... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Myocardial infarction, Short neck, High, narrow palate, Reduced bone mineral density,... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Myocardial infarction, Short neck, High, narrow palate, Reduced bone mineral density,... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Myocardial infarction, Short neck, High, narrow palate, Reduced bone mineral density,... |
ORPHA:881 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Low-set ears, Macrotia, Butterfly... |
OMIM:118450 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Sensorineural hearing impairme... |
OMIM:602782 |
Craniosynostosis And Dental Anomalies |
|
Delayed eruption of teeth, Frontal bossing, Turricephaly, Flat occiput, Dental crowding, Short st... |
OMIM:614188 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect, Low-set ears |
OMIM:618325 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Uplifted earlobe, Calcaneovalgus deformity, Large basal ganglia, Webbed penis, Mic... |
ORPHA:261537 |
Trisomy 8P |
|
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Hydrocephalus, Recurrent uppe... |
ORPHA:264450 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Ventricular septal defect |
OMIM:615630 |
Cadds |
|
Intrauterine growth retardation, Short nose, Sensorineural hearing impairment |
ORPHA:369942 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Omphalocele, Anal atresia, Scoliosis |
ORPHA:3164 |
Costello Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Mitral valve prolapse, Large earlob... |
ORPHA:3071 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Anteverted nares, Abnormality of the nose, Underdeveloped nasal alae, Extern... |
ORPHA:2710 |
Ruvalcaba Syndrome |
|
Intrauterine growth retardation, Short nose, Convex nasal ridge |
ORPHA:3121 |
Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Hearing impairment, Low-set ears, Atrial septal defect, Patent foramen... |
OMIM:208085 |
Witteveen-Kolk Syndrome |
|
Glue ear, Uplifted earlobe, Proximal placement of thumb, Cortical dysplasia, Protruding ear, Male... |
OMIM:613406 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, Pulmonary lymph... |
OMIM:235255 |
Short Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Wide nasal bridge, Glucose intolerance, ... |
OMIM:269880 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Hypoplastic left hear... |
ORPHA:2473 |
19P13.12 Microdeletion Syndrome |
|
Ventricular septal defect, External ear malformation, Conductive hearing impairment, Sensorineura... |
ORPHA:254346 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar dysplasia, Dilated fourth ventricle, Elongated superior cerebellar peduncle, Abnormal ... |
ORPHA:370022 |
Mosaic Variegated Aneuploidy Syndrome |
|
Low-set, posteriorly rotated ears, Coarctation of aorta, Abnormal aortic morphology, Holoprosence... |
ORPHA:1052 |
Fixed Drug Eruption |
|
Vaginal mucosal ulceration |
ORPHA:293812 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose, Hearing impairment |
OMIM:256600 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Hyperglycemia |
ORPHA:90065 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Peho Syndrome |
|
Short nose |
OMIM:260565 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia |
OMIM:246200 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia |
ORPHA:3191 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia |
OMIM:610756 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Short nose, Anteverted nares, Overfolded helix, Low-set ears |
OMIM:613735 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Cleft soft palate, Wide nasal bridge, Microtia, Submucous cleft soft palate, In... |
ORPHA:2282 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:79444 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Low-set ears, Abnormal heart morphology |
ORPHA:404440 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Anteverted nares, Broad nasal tip, Prominent nasolabial fold, High palate, Low-set ears, Intraute... |
ORPHA:357074 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal nostril morphology, Short nose, Anosmia |
ORPHA:1295 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Ventricular septal defect, Abnormal right ventricle morphology, Sensorineural hearing impairment,... |
ORPHA:500095 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly, Bifid uvula |
OMIM:601374 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Uplifted earlobe, Calcaneovalgus deformity, Large basal ganglia, Conductive hearin... |
ORPHA:2152 |
Prader-Willi Syndrome Due To Translocation |
|
Overlapping toe, Hypogonadotropic hypogonadism, External genital hypoplasia, Microcephaly, Small ... |
ORPHA:177907 |
Khan-Khan-Katsanis Syndrome |
|
Colpocephaly, Ventriculomegaly |
OMIM:618460 |
Coffin-Siris Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmon... |
OMIM:614609 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Abnormal pinna morphology, Depressed nasal bridge, Anteverted nares, Cleft palate, Anteriorly pla... |
OMIM:217980 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Low-set ears, Right ventricular hypertrophy |
OMIM:613404 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Bicuspid aortic valve, Posteriorly rotated ears, Patent ductus arterio... |
OMIM:610759 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Macrocephaly/Autism Syndrome |
|
High palate, Short nose, Depressed nasal bridge |
OMIM:605309 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Secondary microcephaly |
OMIM:619423 |
Warburg Micro Syndrome 3 |
|
Short nose, Macrotia, Narrow palate |
OMIM:614222 |
Malan Syndrome |
|
Advanced eruption of teeth, Short nose |
OMIM:614753 |
Gapo Syndrome |
|
Depressed nasal bridge, Anteverted nares, High, narrow palate, Protruding ear, Eruption failure, ... |
OMIM:230740 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnormal earlobe morphology, U... |
ORPHA:96191 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:613807 |
Joubert Syndrome 5 |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm... |
OMIM:610188 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hype... |
OMIM:248370 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Cleft soft palate, Intestinal malrotation, Hydrocephalus, Intrauterine growth retardation, Short ... |
OMIM:619321 |
Radio-Tartaglia Syndrome |
|
Ventricular septal defect, Large earlobe, Low-set ears, Conductive hearing impairment, Hearing im... |
OMIM:619312 |
Toluene Embryopathy |
|
Short nose, Low-set ears, Protruding ear |
ORPHA:1920 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Wide nose, Prominent nasal bridge, Cleft palate, High palate, Low-set ears, Short nose, Convex na... |
ORPHA:251028 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Chronic Mucocutaneous Candidiasis |
|
Dyspareunia, Abnormal vagina morphology |
ORPHA:1334 |
Acrofacial Dysostosis 1, Nager Type |
|
Ventricular septal defect, Posteriorly rotated ears, Aganglionic megacolon, Aqueductal stenosis, ... |
OMIM:154400 |
Aicardi-Goutieres Syndrome 9 |
|
Lateral ventricle dilatation |
OMIM:619487 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Intrauterine growth retardation, Short nose, High palate, Wide nasal bridge |
OMIM:618005 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Protruding ear, Macrotia, Hearing impairment |
OMIM:606232 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Intestinal malrotation, Polyhydramnios, Jejunoileal ulceration, Rectal abscess, Cong... |
ORPHA:436252 |
Trichohepatoenteric Syndrome 1 |
|
Ventricular septal defect, Large placenta, Microtia, Low-set ears, Pulmonic stenosis, Tetralogy o... |
OMIM:222470 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Long... |
OMIM:300912 |
Menke-Hennekam Syndrome 1 |
|
Narrow nasal bridge, Short ear, Prominent inferior crus of antihelix, Anteverted nares, Depressed... |
OMIM:618332 |
Pontocerebellar Hypoplasia, Type 2E |
|
Large earlobe, Wide nose, Short nose |
OMIM:615851 |
Jaberi-Elahi Syndrome |
|
Short nose, Depressed nasal bridge, Low-set ears, Protruding ear |
OMIM:617988 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, External ear malformation, Malrotation of small bowel, Cleft p... |
ORPHA:2953 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Low insertion of columella, ... |
OMIM:619005 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Uplifted earlobe, Calcaneovalgus deformity, Large basal ganglia, Webbed penis, Mic... |
ORPHA:261552 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:152950 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia |
OMIM:615986 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Insulin-Like Growth Factor I, Resistance To |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Low-set ears |
OMIM:270450 |
Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Anteverted nares, Abnormal pinna morphology, Underdeveloped nasal alae, Clef... |
OMIM:164200 |
White-Kernohan Syndrome |
|
Dysplastic corpus callosum, Hip dysplasia, Rectovaginal fistula, Low-set ears, Attention deficit ... |
OMIM:619426 |
Adenylosuccinase Deficiency |
|
Short nose, Anteverted nares, Low-set ears |
OMIM:103050 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Tricuspid regurgitation, Sandal gap, Delayed cranial suture closure, Decreased fibula... |
OMIM:619127 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Short nose, High palate |
ORPHA:329178 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Short nose |
ORPHA:496790 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Conductive hearing impa... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Conductive hearing impa... |
ORPHA:352665 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Myopathy With Extrapyramidal Signs |
|
Optic atrophy, Ventricular septal defect |
OMIM:615673 |
Temtamy Syndrome |
|
Microphthalmia |
OMIM:218340 |
Chime Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Transposition of the great arteries, Pulmonary va... |
ORPHA:3474 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis, Protruding ear |
OMIM:619123 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Sparse eyebrow, Absent eyebrow, Meningocele, Sparse eyelashes |
ORPHA:1010 |
Nablus Mask-Like Facial Syndrome |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Wide nasal bridge, Overfolded... |
OMIM:608156 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Anteverted nares, Choanal atresia, Posteriorly rotated ears, Overfolded helix, Cleft palate, Intr... |
OMIM:301044 |
Acrocallosal Syndrome |
|
Posteriorly rotated ears, Abnormal pinna morphology, Persistence of primary teeth, Protruding ton... |
OMIM:200990 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:79443 |
Osteopetrosis With Renal Tubular Acidosis |
|
Recurrent fractures, Persistence of primary teeth, Pectus excavatum, Cranial nerve compression, O... |
ORPHA:2785 |
Joubert Syndrome 38 |
|
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Low-set ears, Molar tooth sign on MRI, In... |
OMIM:619476 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Optic atrophy, Low-set ears, Patent foramen ... |
OMIM:613457 |
Wilson Disease |
|
Osteomalacia, Decreased nerve conduction velocity, Osteoarthritis, Osteoporosis, Esophageal varix... |
OMIM:277900 |
Keutel Syndrome |
|
Calcification of the auricular cartilage, Ventricular septal defect, Pulmonary artery hypoplasia,... |
OMIM:245150 |
3Q29 Microdeletion Syndrome |
|
Prominent nasal bridge, High palate, Low-set ears, Short nose, Macrotia |
ORPHA:65286 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Optic atrophy, Macrotia, Ventricular septal defect |
OMIM:234050 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia |
OMIM:618804 |
Distal Duplication 5Q |
|
Macrotia, Ventricular septal defect, Dextrocardia, Low-set ears |
ORPHA:96097 |
Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... |
ORPHA:465508 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Conductive hearing impairment, Cranium bifidum occultum, Tetralogy of Fallot, Low-set, posteriorl... |
ORPHA:306542 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Wide nose, Protruding tongue, Sensorineural hearing impairment, Low-set ears, Intrauterine growth... |
OMIM:608779 |
Currarino Syndrome |
|
Bicornuate uterus, Rectovaginal fistula, Tethered cord, Septate vagina |
OMIM:176450 |
Thauvin-Robinet-Faivre Syndrome |
|
Ventricular septal defect, Sensorineural hearing impairment, Protruding ear, Mitral valve prolaps... |
OMIM:617107 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Dilated third ventricle, Ventriculomegaly |
OMIM:615574 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia |
OMIM:617883 |
Genitopatellar Syndrome |
|
Small scrotum, Congenital hip dislocation, Micropenis, Pachygyria, Agenesis of corpus callosum, S... |
OMIM:606170 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Necrotizing Enterocolitis |
|
Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis |
ORPHA:391673 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
Nicolaides-Baraitser Syndrome |
|
Narrow nasal bridge, Anteverted nares, Posteriorly rotated ears, High, narrow palate, Bulbous nos... |
OMIM:601358 |
Lymphedema-Distichiasis Syndrome |
|
Varicose veins, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:153400 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect, Cholesteatoma |
OMIM:610978 |
Mietens Syndrome |
|
Wide nose, Wide nasal bridge, Short nose |
ORPHA:2557 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Depressed nasal bridge, Posteriorly rotated ears, Cleft palate, Microtia, Low-set ears, Short nos... |
OMIM:601353 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta... |
ORPHA:124 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Ventricular septal defect, Low-set ears, Uplifted earlobe |
OMIM:616449 |
Ellis Van Creveld Syndrome |
|
Aplasia/Hypoplasia of the lungs, Emphysema |
ORPHA:289 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Filippi Syndrome |
|
Optic atrophy, Ventricular septal defect |
ORPHA:3255 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Depressed nasal bridge, Sensorineural hearing impairment, High palate, Low-set ears, Short nose, ... |
OMIM:300661 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valve prolapse,... |
OMIM:175050 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Hyperammonemia, Hype... |
ORPHA:3008 |
Warburg Micro Syndrome 2 |
|
Short nose, Macrotia, Prominent nasal bridge, Asymmetry of the ears |
OMIM:614225 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Ataxia, Impulsivity, Aggressive behavior, Cryptorchidism, Dysplastic corpus callos... |
OMIM:300967 |
Distal Renal Tubular Acidosis |
|
Osteomalacia, Sensorineural hearing impairment, Bone pain, Rickets, Reduced bone mineral density,... |
ORPHA:18 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Wide nose, Anteverted nares, Abnormal large intestine morphology, Narrow pa... |
ORPHA:109 |
Helsmoortel-Van Der Aa Syndrome |
|
Short 4th toe, Compulsive behaviors, Clinodactyly of the 5th finger, Prominent fingertip pads, Ab... |
OMIM:615873 |
Hardikar Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Partial anomalous... |
OMIM:301068 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Umbilical hernia |
ORPHA:2505 |
Beta-Ketothiolase Deficiency |
|
Hyperglycemia, Hypoglycemia, Hyperuricemia, Hyperammonemia |
ORPHA:134 |
Trisomy 10P |
|
Depressed nasal bridge, Anteverted nares, Abnormal auditory evoked potentials, Abnormality of the... |
ORPHA:171929 |
Zellweger Syndrome |
|
External ear malformation, Sensorineural hearing impairment, Optic atrophy, Ventricular septal de... |
ORPHA:912 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Hypospadias, Cerebral white matter hypoplasia, Tapered finger, Cryptorchidism, Short thumb, Colpo... |
ORPHA:477993 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Esophageal strictu... |
ORPHA:2908 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Recurrent u... |
ORPHA:1465 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose |
ORPHA:1129 |
Syndromic Diarrhea |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:84064 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Patent ductus arteriosus, Muscular ventricular septal defect, Sensorineura... |
OMIM:612474 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Anteverted ears, Holoprosencephaly, Low-set ears, Umbilical hernia, Pa... |
OMIM:613884 |
Kabuki Syndrome 1 |
|
Ventricular septal defect, Posteriorly rotated ears, Hydrocephalus, Protruding ear, Coarctation o... |
OMIM:147920 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
19Q13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Hearing impairment |
ORPHA:217346 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
Tubulinopathy-Associated Dysgyria |
|
Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal brainstem morphology |
ORPHA:467166 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Pe... |
OMIM:180700 |
Holt-Oram Syndrome |
|
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... |
OMIM:142900 |
Autosomal Dominant Robinow Syndrome |
|
Wide nose, Median cleft lip and palate, Depressed nasal bridge, Anteverted nares, Posteriorly rot... |
ORPHA:3107 |
Mitchell-Riley Syndrome |
|
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia |
OMIM:615710 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Chromosome 17Q12 Deletion Syndrome |
|
Long toe, Cryptorchidism, Long fingers, Pica, Upper limb undergrowth, Protruding ear, Short foot,... |
OMIM:614527 |
Gangliocytoma |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology, Scoliosis, Accelerated skeletal ma... |
ORPHA:251937 |
Poikiloderma With Neutropenia |
|
Short nose, Depressed nasal bridge, Recurrent sinusitis, Underdeveloped nasal alae |
OMIM:604173 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Coarctation of aorta, Atrial septal defect, Spina ... |
OMIM:105650 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia |
ORPHA:335 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Sensorineural hearing impairment, Coarctatio... |
OMIM:163950 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect |
OMIM:617635 |
Opitz Gbbb Syndrome |
|
Posteriorly rotated ears, Umbilical hernia, Ventricular septal defect, Low-set ears |
OMIM:300000 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia |
OMIM:616395 |
Townes-Brocks Syndrome 1 |
|
Overfolding of the superior helices, Ventricular septal defect, Macrotia, Sensorineural hearing i... |
OMIM:107480 |
Warburg Micro Syndrome 4 |
|
Microphthalmia |
OMIM:615663 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Posteriorly rotated ears, Ventricular septal defect, Sensorineural hearing impairment, Low-set ea... |
OMIM:212066 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia |
OMIM:617244 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Ventricular septal defect, Posteriorly rotated ears, Patent ductus arteriosus, Abnormal antihelix... |
ORPHA:3047 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Low-set ears, Hearing impairment |
ORPHA:251038 |
Marfan Syndrome |
|
Arachnodactyly, Protrusio acetabuli, Pectus excavatum, Kyphosis, Meningocele, Pectus carinatum, S... |
ORPHA:558 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Malabsorption, Protruding ear, Short nose, Macrotia |
OMIM:601675 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Ventricular septal defect, Anteverted ears, Dilatation of the ventricular cavity, Pulmonary arter... |
ORPHA:459070 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Proximal placement of thumb, Short metatarsal, Protruding ear, Clitoral... |
OMIM:261540 |
Costello Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Hydrocephalus, Mitral valve prolapse, Vestib... |
OMIM:218040 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Refsum Disease |
|
Microphthalmia |
ORPHA:773 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Severe sensorineural hearing impairment, Short nose, Low-set ears |
ORPHA:363417 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Eruption failure, Short nose, High palate |
ORPHA:476126 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
High palate, Short nose, Posteriorly rotated ears, Low-set ears |
OMIM:617527 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:263630 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Macroglossia, Hydrocephalus, Short nose |
ORPHA:505248 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Hallux valgus, Ataxia, Aggressive behavior, Bilateral cryptorchidism, Cryptorchidism, Dysplastic ... |
ORPHA:466791 |
Opsismodysplasia |
|
Short nose, Depressed nasal bridge |
ORPHA:2746 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Cardiomegaly, Hydrocephalus, Optic atrophy, Stroke-like episode |
ORPHA:137675 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, High palate, Overfolded helix... |
ORPHA:1974 |
Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:899 |
Bohring-Opitz Syndrome |
|
Atrial septal defect, Ventricular septal defect, Low-set ears, Posteriorly rotated ears |
OMIM:605039 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Posteriorly rotated ears, Ventricular septal defect, Abnormal pinna morphology, Patent ductus art... |
OMIM:616975 |
Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Short nose, High palate, Sensorineural hearing impairment |
ORPHA:521426 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Lateral ventricle dilatation |
OMIM:619869 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Vaginal stricture |
ORPHA:79409 |
Trichohepatoneurodevelopmental Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Low-set ears, Recurrent otitis media, Simple... |
OMIM:618268 |
Hand-Foot-Genital Syndrome |
|
Microtia, Ventricular septal defect |
ORPHA:2438 |
Keppen-Lubinsky Syndrome |
|
Lateral ventricle dilatation |
OMIM:614098 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Osteomalacia, Wrist swelling, Kyphosis, Hip dislocation, Rickets, Cornea... |
OMIM:309000 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Growth delay, Abnormality of dental color, Cranial asymmetry, Short stature |
OMIM:163200 |
Frontorhiny |
|
Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele |
ORPHA:391474 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Macrotia, Ventricular septal defect, Low-set ears |
OMIM:250410 |
Cohen Syndrome |
|
Ventricular septal defect, Sensorineural hearing impairment, Aplasia/Hypoplasia of the earlobes, ... |
ORPHA:193 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia |
ORPHA:891 |
Rabson-Mendenhall Syndrome |
|
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... |
ORPHA:769 |
Renal And Mullerian Duct Hypoplasia |
|
Short nose |
OMIM:266810 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Short nose, Epistaxis |
OMIM:277450 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Anteverted nares, High, narrow palate, Hydrocephalus, Bulbous nose, Cupped ear, Wide nasal bridge... |
OMIM:619475 |
Deeah Syndrome |
|
Hearing impairment, Malabsorption, Narrow palate, High palate, Low-set ears, Prominent nasal tip,... |
OMIM:619004 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Posteriorly rotated ears, Intestinal malrotation, Hiatus hernia, Cleft palate, Protruding ear, Sh... |
OMIM:601776 |
Wiedemann-Steiner Syndrome |
|
Wide nasal bridge, High palate, Low-set ears, Intrauterine growth retardation, Short nose |
ORPHA:319182 |
Ayme-Gripp Syndrome |
|
Depressed nasal bridge, Posteriorly rotated ears, Sensorineural hearing impairment, Wide nasal br... |
OMIM:601088 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Anal stenosis, Anteverted nares, Overfolded helix, Large fleshy ears, Microtia, Prominent tragus,... |
ORPHA:280633 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Ventricular septal defect |
OMIM:620073 |
Cutis Laxa, Autosomal Dominant 1 |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:123700 |
Rothmund-Thomson Syndrome, Type 2 |
|
Delayed eruption of teeth, Depressed nasal bridge, Underfolded helix, Overfolded helix, Prominent... |
OMIM:268400 |
Peters Plus Syndrome |
|
Low-set, posteriorly rotated ears, Intestinal fistula, Anal atresia, Anteverted nares, Depressed ... |
ORPHA:709 |
Renpenning Syndrome 1 |
|
Ventricular septal defect, Situs inversus totalis, Macrotia, Cupped ear, Protruding ear, Atrial s... |
OMIM:309500 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Dilated third ventricle |
ORPHA:314404 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Ventricular septal defect, Patent ductus arteriosus, Protruding ear, Aortic va... |
ORPHA:464306 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration |
ORPHA:340 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Microtia, Ventricular septal defect |
OMIM:617798 |
Teebi-Shaltout Syndrome |
|
Small earlobe, Ventricular septal defect, Low-set ears, Hypoplastic helices, Aortic valve stenosis |
OMIM:272950 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Toe syndactyly, Hypogonadotropic hypogonadism, Microcephaly, Cryptorchidism, Split hand, Transver... |
OMIM:129900 |
Marden-Walker Syndrome |
|
Ventricular septal defect, Dextrocardia, Posteriorly rotated ears, Situs inversus totalis, Hydroc... |
ORPHA:2461 |
Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Depressed nasal bridge, Anteverted nares, Short nose, Sensorineural hearing impairment |
ORPHA:2719 |
Arboleda-Tham Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Secundum atrial septal defect, Anteverted ea... |
OMIM:616268 |
Adams-Oliver Syndrome |
|
Encephalocele, Microphthalmia |
ORPHA:974 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Brain-Lung-Thyroid Syndrome |
|
Ventricular septal defect, Sensorineural hearing impairment, Abnormal cardiac septum morphology, ... |
ORPHA:209905 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... |
OMIM:615474 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia |
OMIM:619135 |
Microlissencephaly-Micromelia Syndrome |
|
Short nose |
ORPHA:50810 |
Omodysplasia 1 |
|
Atrial septal defect, Umbilical hernia, Pulmonary artery stenosis, Ventricular septal defect |
OMIM:258315 |
Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia, Steatorrhea |
ORPHA:440713 |
Eisenmenger Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Vertigo, Aortopulmonary window, Abnormal hea... |
ORPHA:97214 |
Atelis Syndrome 2 |
|
Vitreous hemorrhage, Remnants of the hyaloid vascular system |
OMIM:620185 |
Williams Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Protruding ear, Atria... |
ORPHA:904 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Abnormal pinna morphology, Cardiomegaly, Hydrocephalus, Cardiomyopathy... |
ORPHA:3472 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia, Encephalocele |
OMIM:613150 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia |
ORPHA:2728 |
Arterial Tortuosity Syndrome |
|
Hiatus hernia, Pyloric stenosis, Esophagitis, Short nose, Macrotia, Median cleft lip and palate |
ORPHA:3342 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia |
ORPHA:1352 |
Short Stature-Micrognathia Syndrome |
|
Ventricular septal defect |
OMIM:617164 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia |
ORPHA:35173 |
Toriello-Lacassie-Droste Syndrome |
|
Aganglionic megacolon, Short nose, Anteverted nares, Hearing impairment |
ORPHA:3339 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos |
OMIM:610758 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Rectal prolapse, Wide nasal bridge, Na... |
OMIM:617157 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Atrial septal defect, Pa... |
ORPHA:26793 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Bulbous nose, Cupped ear, Prot... |
OMIM:309590 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:300868 |
Scalp-Ear-Nipple Syndrome |
|
Finger syndactyly, Posteriorly rotated ears, Underdeveloped antitragus, Anteverted ears, Cupped e... |
OMIM:181270 |
Martsolf Syndrome 1 |
|
Microphthalmia |
OMIM:212720 |
Carpenter Syndrome 2 |
|
Posteriorly rotated ears, Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Sensori... |
OMIM:614976 |
Knobloch Syndrome 1 |
|
Occipital encephalocele, Depressed nasal bridge, Pyloric stenosis, Bulbous nose, Occipital mening... |
OMIM:267750 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Microphthalmia |
OMIM:613451 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Retinal hamartoma, Abnormal optic nerve morphology, Epir... |
ORPHA:637 |
Leigh Syndrome |
|
Ventricular septal defect, Sensorineural hearing impairment, Optic atrophy, Hypertrophic cardiomy... |
ORPHA:506 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Syndactyly, Short metacarpal, Coxa valga, Bilateral cryptorchidism, Avascular necrosis of the cap... |
OMIM:150230 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Optic atrophy, Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
Trichothiodystrophy |
|
Ventricular septal defect, Protruding ear, Cardiomyopathy, Bilateral sensorineural hearing impair... |
ORPHA:33364 |
2Q31.1 Microdeletion Syndrome |
|
Atrial septal defect, Optic disc coloboma, Ventricular septal defect, Low-set ears |
ORPHA:251014 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Ventricular septal defect, Posteriorly rotated ears, Low-set ears, Pulmonic stenosis, Atrial sept... |
OMIM:607721 |
Aspartylglucosaminuria |
|
Joint laxity, Kyphosis, Delayed skeletal maturation, Macroglossia, Platyspondyly, Mitral regurgit... |
OMIM:208400 |
Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Ventricular septal defect, Low-set ears |
OMIM:609460 |
Oculoauricular Syndrome |
|
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia |
OMIM:257850 |
Norrie Disease |
|
Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, Abn... |
ORPHA:649 |
Degcags Syndrome |
|
Anteverted nares, Prominent nasal bridge, Hearing impairment, Prominent nose, Posteriorly rotated... |
OMIM:619488 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Posteriorly rotated ears, Broad nasal tip, Wide nasal bridge, Protruding ear, Umbilical hernia, H... |
OMIM:620330 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Ventricular septal defect, Low-set ears |
OMIM:614653 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Communicating hydrocephalus |
OMIM:244400 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Subarachnoid hemorrhage, Abnormal brainstem morphology, Intracranial h... |
ORPHA:231160 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short nose, Convex nasal ridge |
ORPHA:90154 |
Microphthalmia, Syndromic 1 |
|
Pulmonary hypoplasia |
OMIM:309800 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... |
ORPHA:85450 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Retinal arteriolar tortuosity, Sensorineural he... |
OMIM:194050 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia |
OMIM:302960 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Prominent nasal bridge, Cleft soft palate, Broad nasal tip, Underdeveloped nasal alae, Pyloric st... |
ORPHA:268261 |
Microphthalmia, Lenz Type |
|
Microphthalmia |
ORPHA:568 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve prolapse, Protr... |
ORPHA:363700 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia |
OMIM:610651 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
Tbck-Related Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Ventricular septal defect, Pulmonic stenosis |
ORPHA:488632 |
Proboscis Lateralis |
|
Ventricular septal defect, Optic nerve hypoplasia, Patent ductus arteriosus, Optic disc coloboma,... |
ORPHA:141099 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia |
OMIM:614230 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Recurrent otitis media, Tetralogy of Fallot, Ventricular septal defect, Low-set ears |
OMIM:619525 |
Cornelia De Lange Syndrome |
|
Low-set, posteriorly rotated ears, Delayed eruption of teeth, Depressed nasal bridge, Anteverted ... |
ORPHA:199 |
Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect |
OMIM:610832 |
Pmm2-Cdg |
|
Osteopenia, Joint laxity, Pericarditis, Multiple joint contractures, Abnormal pinna morphology, L... |
ORPHA:79318 |
Isolated Exencephaly |
|
Depressed nasal bridge, Holoprosencephaly, Low-set ears |
ORPHA:563612 |
1P21.3 Microdeletion Syndrome |
|
Short nose, Long ear, Broad nasal tip |
ORPHA:293948 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Lateral ventricle dilatation |
OMIM:300896 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:251300 |
Stromme Syndrome |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:243605 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Toe syndactyly, Hypogonadotropic hypogonadism, Cryptorchidism, Split hand, Transverse vaginal sep... |
OMIM:604292 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia |
OMIM:617729 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Choroid hemorrhage, Abnormal brainstem morphology |
ORPHA:88619 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, An... |
ORPHA:438213 |
Pancreatic And Cerebellar Agenesis |
|
Hyperglycemia, Diabetes mellitus, Hypoglycemia |
OMIM:609069 |
Arthrogryposis, Distal, Type 4 |
|
Cranial asymmetry |
OMIM:609128 |
Papillorenal Syndrome |
|
Microphthalmia |
OMIM:120330 |
Peroxisome Biogenesis Disorder 4B |
|
Short nose, Sensorineural hearing impairment |
OMIM:614863 |
Toxic Epidermal Necrolysis |
|
Polydipsia, Abnormal vagina morphology, Dysphagia |
ORPHA:537 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Abnormal pons morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Cerebellar... |
ORPHA:370997 |
Cousin Syndrome |
|
Hydranencephaly, Microphthalmia |
OMIM:260660 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia |
OMIM:603467 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia |
OMIM:300895 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
Fanconi Anemia, Complementation Group C |
|
Ventricular septal defect, Hearing impairment |
OMIM:227645 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Prominent nasal tip, Short nose |
ORPHA:522077 |
Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Short nose, Rhinitis, Depressed nasal bridge, Underdeveloped nasal alae |
OMIM:305100 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Posteriorly rotated ears, Sensorineural hearing impairment, Ventricula... |
OMIM:608670 |
Leprechaunism |
|
Insulin resistance, Hyperinsulinemia, Hypokalemia, Hyperaldosteronism, Increased circulating reni... |
ORPHA:508 |
Liver Disease, Severe Congenital |
|
Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of the ventricular c... |
OMIM:619991 |
Geleophysic Dysplasia 1 |
|
Thickened helices, Short nose, Anteverted nares |
OMIM:231050 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia |
OMIM:600901 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conductive hearing impairment, Ventricular septal defect, Protruding ear |
ORPHA:1071 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Short nose |
OMIM:252160 |
Momo Syndrome |
|
Bilateral microphthalmos |
ORPHA:2563 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia |
ORPHA:1236 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Short nose |
OMIM:252150 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Unilateral microphthalmos |
OMIM:618874 |
Fanconi Anemia, Complementation Group A |
|
Microphthalmia |
OMIM:227650 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Microtia... |
OMIM:143095 |
Ctcf-Related Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Anteverted nares, Broad nasal tip, Cupped ear, Cleft palate, S... |
ORPHA:363611 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Ventricular septal defect, Bilateral sensorineural hearing impairment, Profound hearing impairment |
OMIM:619418 |
Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Abnormal pinna morphology, Patent ductus art... |
OMIM:268300 |
Sotos Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Hearing impairment, Conductive hearing impairme... |
ORPHA:821 |
Atypical Werner Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsuli... |
ORPHA:79474 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:308300 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Recurrent hypoglycemia, Hypoglycemia, Hyperglycemia |
OMIM:124000 |
Meckel Syndrome |
|
Encephalocele, Anophthalmia, Anencephaly, Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:564 |
Acromesomelic Dysplasia 1 |
|
Short nose |
OMIM:602875 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage |
OMIM:616682 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia |
ORPHA:2612 |
Holoprosencephaly 2 |
|
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
OMIM:157170 |
Scorpion Envenomation |
|
Increased circulating NT-proBNP concentration, Increased circulating creatine kinase MB isoform, ... |
ORPHA:466677 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia |
OMIM:201180 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Glycosuria |
ORPHA:99885 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Abnormal brainstem morphology, Hypertension, Abnormal autonomic nervous system physiology, Hypote... |
ORPHA:93256 |
Geleophysic Dysplasia 2 |
|
Short nose |
OMIM:614185 |
Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2538 |
Fanconi Anemia, Complementation Group L |
|
Microphthalmia |
OMIM:614083 |
Wiedemann-Rautenstrauch Syndrome |
|
Frontal bossing, Natal tooth, Thin upper lip vermilion, Short stature, Abnormality of the dentiti... |
ORPHA:3455 |
Fanconi Anemia, Complementation Group D2 |
|
Microphthalmia |
OMIM:227646 |
Primary Sjögren Syndrome |
|
Somatic sensory dysfunction, Abnormality of the peripheral nervous system, Abnormal spinal cord m... |
ORPHA:289390 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2526 |
Fraser Syndrome 2 |
|
Microphthalmia |
OMIM:617666 |
Hallermann-Streiff Syndrome |
|
Microphthalmia |
ORPHA:2108 |
Ulnar-Mammary Syndrome |
|
Ventricular septal defect |
ORPHA:3138 |
Cockayne Syndrome B |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:133540 |
Johanson-Blizzard Syndrome |
|
Hypospadias, Septate vagina, Urethrovaginal fistula, Microcephaly, Cryptorchidism, Sensorineural ... |
OMIM:243800 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:619539 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hyperglycemia, Hypoglycemia, Wide nasal bridge, Hyperammonemia |
OMIM:220111 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, True anophthalmia |
ORPHA:1106 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microphthalmia |
OMIM:620005 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia |
OMIM:601552 |
Cockayne Syndrome Type 3 |
|
Microphthalmia |
ORPHA:90324 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Microphthalmia |
OMIM:620186 |
Mend Syndrome |
|
Microphthalmia |
ORPHA:401973 |
Early Infantile Epileptic Encephalopathy |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1934 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Microphthalmia, Hypoplasia of the retina |
OMIM:253280 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2556 |
Roberts Syndrome |
|
Microphthalmia |
ORPHA:3103 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
Cockayne Syndrome |
|
Microphthalmia |
ORPHA:191 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
ORPHA:468631 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Sensorineural hearing impairment, Cupped ear, Protruding ear, Prominen... |
OMIM:216340 |
Lipodystrophy, Familial Partial, Type 7 |
|
Low-set ears, Short nose, Tinnitus, Narrow nasal ridge |
OMIM:606721 |
Monosomy 13Q14 |
|
Microphthalmia |
ORPHA:1587 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia |
OMIM:616734 |
Chronic Graft Versus Host Disease |
|
Abnormal vagina morphology, Dysphagia, Anorexia, Phimosis |
ORPHA:99921 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Anorexia, Oral-pharyngeal dysphagia, Vaginal stricture, Vaginal dryness |
ORPHA:95455 |
Holoprosencephaly 1 |
|
Microphthalmia |
OMIM:236100 |
Branchiooculofacial Syndrome |
|
Microphthalmia, Branchial anomaly, Anophthalmia |
OMIM:113620 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia |
OMIM:607932 |
Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:175780 |