Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
Oocyte Maturation Defect 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Oocyte Maturation Defect 12 |
|
Female infertility |
OMIM:619697 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia |
OMIM:265430 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Hymen, Imperforate |
|
Amenorrhea, Hematocolpos, Imperforate hymen, Hydrocolpos |
OMIM:237100 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Rib fusion, Vertebral segmentation defect, Hemivertebrae, Spina bifida occulta,... |
OMIM:613686 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size |
OMIM:619689 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head |
OMIM:243060 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagell... |
OMIM:619095 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... |
ORPHA:1646 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries, Lo... |
OMIM:231060 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Oocyte Maturation Defect 10 |
|
Female infertility |
OMIM:619176 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Pulmonary hypoplasia |
OMIM:615228 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Abnormal sperm head morphology, Oligospermia, Male infertility |
OMIM:619696 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Immotile sperm, Male infertility, Abnormal sperm morphology |
OMIM:608653 |
Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Vaginal Atresia |
|
Bicornuate uterus, Imperforate hymen, Uterus didelphys, Primary amenorrhea, Cervicitis, Transvers... |
ORPHA:65681 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Pulmonary hypoplasia |
OMIM:614096 |
Fetal Akinesia Deformation Sequence 1 |
|
High palate, Hydrocephalus, Elbow ankylosis, Cleft palate, Short neck, Small placenta, Rocker bot... |
OMIM:208150 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Oligomenorrhea, Hypoplasia of the uterus, Female infertility |
OMIM:617442 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Rib fusion, Kyphosis, Abnormal intervertebral disk morphology, Con... |
ORPHA:2311 |
Endometriosis, Susceptibility To, 1 |
|
Endometriosis, Dysmenorrhea, Decreased fertility |
OMIM:131200 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Short neck, Posterior rib fusion, Scoliosis, Spina bifida occulta,... |
ORPHA:1797 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Renal, Genital, And Middle Ear Anomalies |
|
Vaginal atresia |
OMIM:267400 |
Isolated Klippel-Feil Syndrome |
|
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Anal atresia, Ectopic anus, Cleft palate, Abno... |
ORPHA:2345 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... |
OMIM:606217 |
Thymic Aplasia With Fetal Death |
|
Pulmonary hypoplasia |
OMIM:274210 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphosis, Contracture of the proximal interphalangeal ... |
OMIM:609813 |
Limb Body Wall Complex |
|
Hydrocephalus, Cleft palate, Aplasia of the proximal phalanges of the hand, Anencephaly, Broad ha... |
ORPHA:2369 |
Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Dextrotr... |
OMIM:619702 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Short neck, Platyspondyly, Decreased skull ossificati... |
ORPHA:93267 |
Becker Nevus Syndrome |
|
Rib fusion, Kyphosis, Pectus excavatum, Scoliosis, Spina bifida occulta, Pectus carinatum, Abnorm... |
ORPHA:64755 |
Femoral-Facial Syndrome |
|
Sprengel anomaly, Rib fusion, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of the... |
ORPHA:1988 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Abnormal pinna morphology, Hypoplastic left heart, Pulmonic stenos... |
OMIM:618164 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada... |
ORPHA:98798 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Cerebrofaciothoracic Dysplasia |
|
Bifid ribs, Rib fusion, Sprengel anomaly, Narrow chest, Vertebral segmentation defect, Cleft pala... |
ORPHA:1394 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Pulmonary hypoplasia, Abnormal lung lobation |
ORPHA:2631 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck |
OMIM:608681 |
Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear |
OMIM:618915 |
Septopreoptic Holoprosencephaly |
|
Rhombencephalosynapsis, Hypoplasia of the pons, Ethmoidal encephalocele, Abnormal rib morphology,... |
ORPHA:280195 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Pulmonary hypoplasia |
OMIM:616531 |
Restrictive Dermopathy 1 |
|
Decreased calvarial ossification, Ankylosis, Spontaneous chorioamniotic separation, Rocker bottom... |
OMIM:275210 |
Velocardiofacial Syndrome |
|
Abnormality of the ear, Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia, Ventri... |
OMIM:192430 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Infertility |
OMIM:617961 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... |
OMIM:277300 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida, Ptosis |
OMIM:311000 |
Nphp3-Related Meckel-Like Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3032 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib ... |
ORPHA:3268 |
Hydrocephalus With Associated Malformations |
|
Hydrocephalus, Pulmonary hypoplasia |
OMIM:236640 |
Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Lipoma, Hiatus hernia, Butterfly vertebrae, Cleft palate, Hemivertebrae, ... |
OMIM:304050 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... |
ORPHA:261529 |
Basal Cell Nevus Syndrome |
|
Bifid ribs, Sprengel anomaly, Short distal phalanx of the thumb, Hydrocephalus, Abnormal sternum ... |
OMIM:109400 |
Premature Ovarian Failure 6 |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary amenorr... |
OMIM:612310 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Dextrocardia, Hearing impairment, Right aortic arch |
OMIM:617577 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration |
OMIM:258700 |
Mucocutaneous Ulceration, Chronic |
|
Vaginal mucosal ulceration |
OMIM:618287 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration |
OMIM:271250 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Ciliary Dyskinesia, Primary, 40 |
|
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs inversus totalis, ... |
OMIM:618300 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
ORPHA:3033 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Infertility, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Infertility, Reduced sperm motility |
OMIM:617187 |
Fibrochondrogenesis 1 |
|
Abnormal pinna morphology, Cleft palate, Short neck, Platyspondyly, Omphalocele, Dumbbell-shaped ... |
OMIM:228520 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Cleft palate, Macrotia, Supernumerary ribs, Vertebral fusion |
OMIM:221950 |
Neu-Laxova Syndrome 1 |
|
Cleft palate, Short neck, Small placenta, Rocker bottom foot, Pterygium, Calcaneovalgus deformity... |
OMIM:256520 |
Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Limb ataxia, Impaired vibration sensation in the lower limbs, Jerky head movements, B... |
ORPHA:251282 |
Asherman Syndrome |
|
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... |
ORPHA:137686 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Hydrocephalus, Atrial septal defect, Vascular ring |
OMIM:603387 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Enlarged thorax, Cleft palate, Abnormal vertebral segmentation and fusion, Shor... |
ORPHA:66637 |
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis |
|
Hematocolpos, Uterus didelphys, Partial vaginal septum |
OMIM:192050 |
Tuberculosis |
|
Abnormal lung morphology |
ORPHA:3389 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Polymicrogyria, Par... |
OMIM:604213 |
Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Hemivertebrae, Short neck, Posterior rib fusion, Scoliosis, Pectus carinatum... |
OMIM:122600 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Enlarged joints, Delayed epiphyseal ossification, Pectus excavatum, Spindle-shaped finger, Cutane... |
ORPHA:166024 |
Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Protruding ear, Butterfly vertebrae, Hiatus hernia, Malabsorption, Cleft ... |
ORPHA:50 |
Huntington Disease-Like 1 |
|
Abnormal basal ganglia morphology, Cerebral cortical atrophy, Clumsiness, Poor fine motor coordin... |
ORPHA:157941 |
Boomerang Dysplasia |
|
Narrow chest, Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of... |
ORPHA:1263 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
Lethal Congenital Contracture Syndrome 9 |
|
Adducted thumb, Short umbilical cord, Preeclampsia, Scoliosis, Ankylosis, Polyhydramnios, Low-set... |
OMIM:616503 |
Axial Mesodermal Dysplasia Spectrum |
|
Vertebral segmentation defect, Anal atresia, Hydrocephalus, Congenital diaphragmatic hernia, Micr... |
ORPHA:1834 |
Restrictive Dermopathy |
|
Multiple joint contractures, Osteopenia, Thoracic kyphoscoliosis, Small placenta, Microcolon, Int... |
ORPHA:1662 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Dyspareunia, Dysmenorrhea, Metrorrhagia, Uterus didelphys, Abnormal uterine cervix morphology, Pa... |
ORPHA:3411 |
Microphthalmia, Syndromic 12 |
|
Pulmonary hypoplasia |
OMIM:615524 |
Otopalatodigital Syndrome Type 2 |
|
Hydrocephalus, Abnormal pinna morphology, Cleft palate, Bowing of the long bones, Omphalocele, En... |
ORPHA:90652 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Hemivertebrae, Short neck, Sacral ... |
OMIM:213980 |
Distal Trisomy 14Q |
|
Hearing impairment, Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
High palate, Pectus excavatum, Cleft palate, Aplasia/Hypoplasia of the abdominal wall musculature... |
ORPHA:2990 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... |
OMIM:601369 |
Aarskog-Scott Syndrome |
|
Clinodactyly of the 5th finger, Pectus excavatum, Genu recurvatum, Inguinal hernia, Cleft palate,... |
ORPHA:915 |
Lateral Meningocele Syndrome |
|
High palate, Conductive hearing impairment, Abnormality of the middle ear ossicles, Pectus excava... |
OMIM:130720 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Babinski sign, Hypoplasia of the corpus callosum, Spastic paraplegia,... |
OMIM:613162 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Multiple Pterygium Syndrome, Escobar Variant |
|
High palate, Multiple joint contractures, Cleft palate, Down-sloping shoulders, Short neck, Ulnar... |
OMIM:265000 |
Johnson Neuroectodermal Syndrome |
|
Conductive hearing impairment, Protruding ear, Microtia, Ventricular septal defect, Atresia of th... |
OMIM:147770 |
Sprengel Deformity |
|
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... |
OMIM:184400 |
Larsen-Like Syndrome, Lethal Type |
|
Pulmonary hypoplasia |
OMIM:245650 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Hydrocephalu... |
ORPHA:2306 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Clinodactyly, Ventriculome... |
ORPHA:500166 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Ataxia, Hydrocephalus, Microcephaly, Cortical dysplasia, Ventriculomegaly, Abno... |
OMIM:618709 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619949 |
Vacterl/Vater Association |
|
Vertebral segmentation defect, Intrauterine growth retardation, Anal atresia, Congenital diaphrag... |
ORPHA:887 |
Metatropic Dysplasia |
|
Narrow chest, Kyphosis, Hydrocephalus, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Abn... |
ORPHA:2635 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... |
OMIM:601927 |
Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Hemivertebrae, Unilateral brac... |
OMIM:173800 |
Melnick-Needles Syndrome |
|
Cone-shaped epiphyses of the phalanges of the hand, Abnormality of the pubic bone, Delayed erupti... |
ORPHA:2484 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2141 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia, Recurrent otitis media |
OMIM:618254 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Hydrocephalus, Aplasia/Hypoplasia of the cerebellar vermis, Abnormal rib morphology, Low-set ears... |
OMIM:300864 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... |
OMIM:617478 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... |
OMIM:616749 |
Metatropic Dysplasia |
|
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... |
OMIM:156530 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... |
OMIM:609052 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
Aphalangy With Hemivertebrae |
|
Pulmonary hypoplasia |
OMIM:207620 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Intrauterine growth retardation, Pectus excavatum, Abnormal rib cage morphology, Hemivertebrae, P... |
OMIM:608406 |
Bardet-Biedl Syndrome 6 |
|
Vaginal atresia, Hypospadias, External genital hypoplasia |
OMIM:605231 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
Congenital Diaphragmatic Hernia |
|
Pulmonary hypoplasia |
ORPHA:2140 |
Fibrochondrogenesis |
|
Narrow chest, Wide anterior fontanel, Cleft palate, Short ribs, Camptodactyly of finger, Short ne... |
ORPHA:2021 |
Pseudotrisomy 13 Syndrome |
|
Low-set ears, Hydrocephalus, 2-3 toe syndactyly, Anal atresia, Holoprosencephaly, Hemivertebrae, ... |
OMIM:264480 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus, Pulmonary hypoplasia |
OMIM:241800 |
Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:3346 |
Lissencephaly Type Iii And Bone Dysplasia |
|
Pulmonary hypoplasia |
OMIM:601160 |
Congenital Tracheomalacia |
|
Atrial septal defect, Single ventricle, Double aortic arch, Tetralogy of Fallot, Ventricular sept... |
ORPHA:95430 |
Otopalatodigital Syndrome, Type Ii |
|
Hydrocephalus, Pectus excavatum, Radial deviation of the 2nd finger, Cleft palate, Femoral bowing... |
OMIM:304120 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Spina bifida occulta at L5, Spina bifida o... |
OMIM:102510 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
Kbg Syndrome |
|
Delayed skeletal maturation, Cleft palate, Cutaneous syndactyly, Short neck, Finger clinodactyly,... |
ORPHA:2332 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Coloboma |
OMIM:614497 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Aqueductal stenosis, Abnormally ossified vertebrae, Intestinal malr... |
ORPHA:3035 |
Mesomelia-Synostoses Syndrome |
|
Progressive forearm bowing, Short umbilical cord, Abnormal vertebral morphology, Short foot, Meta... |
OMIM:600383 |
Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Abnormal pinna morphology, Short neck, Anencephaly, Lobulated tongue, Median cleft... |
OMIM:269860 |
Endosteal Hyperostosis, Worth Type |
|
Sensorineural hearing impairment, Craniofacial hyperostosis, Clavicular sclerosis, Abnormal form ... |
ORPHA:2790 |
Central Neurocytoma |
|
Ataxia, Hydrocephalus, Pain insensitivity, Cerebral calcification, Babinski sign, Tinnitus, Pares... |
ORPHA:73256 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
Triploidy |
|
Narrow chest, Hydrocephalus, Cleft palate, Holoprosencephaly, Macroglossia, Intestinal malrotatio... |
ORPHA:3376 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary hypoplasia |
OMIM:619003 |
Trisomy 1Q |
|
Anal atresia, Hydrocephalus, Congenital diaphragmatic hernia, Cleft palate, Arachnodactyly, Campt... |
ORPHA:261344 |
Renal Hypodysplasia/Aplasia 1 |
|
Vaginal atresia, Primary amenorrhea, Bicornuate uterus |
OMIM:191830 |
Multiple Pterygium Syndrome, X-Linked |
|
Multiple pterygia, Joint dislocation, Flexion contracture, Thin ribs, Cleft palate, Abnormal cerv... |
OMIM:312150 |
Carpenter Syndrome 1 |
|
High palate, Abnormal pinna morphology, Aplasia/Hypoplasia of the middle phalanges of the toes, S... |
OMIM:201000 |
Phaver Syndrome |
|
Myelomeningocele, Conductive hearing impairment, Overfolded helix, Coarctation of aorta, Pulmonar... |
ORPHA:2876 |
Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
Tetraamelia-Multiple Malformations Syndrome |
|
Hydrocephalus, Microtia, Abnormal rib morphology, Optic atrophy, Septo-optic dysplasia, Missing r... |
ORPHA:3301 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Male infertility, Abnormal sperm hea... |
OMIM:618433 |
Acalvaria |
|
Hydrocephalus, Cleft palate, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Postaxial h... |
ORPHA:945 |
Exostoses, Multiple, Type Ii |
|
Coxa vara, Scapular exostoses, Madelung-like forearm deformities, Rib exostoses, Genu valgum, Pro... |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Coxa vara, Scapular exostoses, Madelung-like forearm deformities, Rib exostoses, Genu valgum, Pro... |
OMIM:133700 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly |
OMIM:614870 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Pulmonary hypoplasia |
OMIM:224410 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Holoprosencephaly, Short femur, Scoliosis, Anterior encephalocele, Bilateral cleft lip and palate... |
OMIM:601357 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Prominent sternum, Platyspondyly, Genu valgum,... |
OMIM:253010 |
Multiple Pterygium Syndrome, Lethal Type |
|
Multiple pterygia, Joint dislocation, Flexion contracture, Thin ribs, Cleft palate, Abnormal cerv... |
OMIM:253290 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... |
ORPHA:216694 |
Mucopolysaccharidosis, Type Iva |
|
Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beaking of lumbar ... |
OMIM:253000 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Pectus excavatum, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Duplication of the... |
OMIM:268310 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Cleft palate, Lobulated tongue, Hypoplastic pelvis, Omphalocele, Unicoronal synostosis, Encephalo... |
OMIM:616300 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... |
ORPHA:99050 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
Frontal Encephalocele |
|
Hydrocephalus, Spina bifida, Encephalocele |
ORPHA:1931 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Tremor, V... |
OMIM:617862 |
Pseudodiastrophic Dysplasia |
|
Platyspondyly, Scoliosis, Phalangeal dislocation, Omphalocele, Elbow dislocation |
ORPHA:85174 |
Kagami-Ogata Syndrome |
|
Diastasis recti, Kyphoscoliosis, Thin ribs, Microtia, Long clavicles, Inguinal hernia, Flexion co... |
OMIM:608149 |
Masa Syndrome |
|
Clinodactyly of the 5th finger, Hemiplegia/hemiparesis, Camptodactyly of finger, Spastic parapleg... |
ORPHA:2466 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Congenital Hydrocephalus |
|
Hydrocephalus, Colpocephaly, Ventriculomegaly |
ORPHA:2185 |
Congenital Herpes Simplex Virus Infection |
|
Hydranencephaly, Intrauterine growth retardation |
ORPHA:293 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
Osteopathia Striata With Cranial Sclerosis |
|
High palate, Hydrocephalus, Pectus excavatum, Cleft palate, Overfolded helix, Broad ribs, Omphalo... |
OMIM:300373 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Hydrocephalus, Aortic valve stenosis, Atrial septal defect, Hypopl... |
OMIM:220210 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections |
ORPHA:1548 |
Apert Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Hydrocephalus, Vertebral segment... |
ORPHA:87 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Vertigo, Ataxia, Abnormal head movements |
ORPHA:71518 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Pulmonary hypoplasia |
OMIM:601163 |
Lethal Congenital Contracture Syndrome 1 |
|
Pulmonary hypoplasia |
OMIM:253310 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Pulmonary hypoplasia |
OMIM:616733 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Ataxia, Dysplastic corpus callosum, Inability to walk, Microcephaly, Tetraparesis, Spasticity, To... |
OMIM:618276 |
Pontine Tegmental Cap Dysplasia |
|
Sensorineural hearing impairment, Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis, Pontine teg... |
OMIM:614688 |
Otopalatodigital Syndrome, Type I |
|
Pectus excavatum, Cleft palate, Short 3rd metacarpal, Broad hallux, Sandal gap, Omphalocele, Dela... |
OMIM:311300 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
High palate, Corner fracture of metaphysis, Platyspondyly, Short neck, Biconcave vertebral bodies... |
ORPHA:93315 |
Nevus Comedonicus Syndrome |
|
Preaxial polydactyly, Scoliosis, Spina bifida occulta, Abnormal vertebral morphology, Spina bifid... |
ORPHA:64754 |
Distal Trisomy 15Q |
|
High palate, Joint stiffness, Anal atresia, Pectus excavatum, Arachnodactyly, Camptodactyly of fi... |
ORPHA:1707 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Sensorineural hearing impairment, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Vent... |
OMIM:617992 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Rib fusion, Conductive hearing impairment, Congenital diaphragm... |
ORPHA:261197 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Accelerated skeletal maturation, Cleft palate, Genu valgum, Small epiphyses, Thoraci... |
OMIM:618363 |
Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... |
OMIM:602588 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sensorineural hearing impairment, Rib fusion, Celiac disease, Clinodactyly of the 5th finger, Tap... |
ORPHA:544488 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Cleft palate, Overfolded helix, Symphalangism affecting the phalang... |
ORPHA:628 |
Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Pectus excavatum, Camptodactyly of finger, Synostosis of carpal b... |
ORPHA:957 |
Meckel Syndrome 12 |
|
Cerebral hypoplasia, Microcephaly, Rocker bottom foot, Vaginal atresia, Low-set ears, Agenesis of... |
OMIM:616258 |
Lissencephaly 3 |
|
Ataxia, Microcephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, Lissencephaly, V... |
OMIM:611603 |
Focal Dermal Hypoplasia |
|
Telangiectasia of the skin, Hypoplastic pelvis, Abnormal epiphysis morphology, Umbilical hernia, ... |
ORPHA:2092 |
Caudal Regression Syndrome |
|
Joint stiffness, Anal atresia, Hypoplastic vertebral bodies, Abnormal iliac wing morphology, Abno... |
ORPHA:3027 |
Ring Chromosome 21 Syndrome |
|
Holoprosencephaly, Small hand, Fused thoracic vertebrae, Syndactyly, Scoliosis, Abnormal thorax m... |
ORPHA:1445 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral segmentation defect, Short thorax, Death in infancy, Vertebral fusion, Short long bone,... |
OMIM:618845 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Male infertility, Absent vas deferens |
OMIM:277180 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... |
OMIM:618316 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, Protruding ear, Atrial septal defect, Pulmonic stenosis, Macrotia,... |
ORPHA:3304 |
Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... |
OMIM:271530 |
Kniest Dysplasia |
|
Enlarged joints, Flexion contracture of finger, Cleft palate, Short neck, Platyspondyly, Abnormal... |
ORPHA:485 |
Caudal Duplication |
|
Myelomeningocele, Vertebral segmentation defect, Bifid sacrum, Intestinal duplication, Omphalocel... |
ORPHA:1756 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Sensorineural hearing impairment, Conductive hearing impairment, Sprengel anomaly, Cervical C2/C3... |
OMIM:118100 |
Kagami-Ogata Syndrome |
|
Diastasis recti, Kyphoscoliosis, Limitation of joint mobility, Inguinal hernia, Microtia, Coat ha... |
ORPHA:254519 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Ataxia, Hydrocephalus, Opisthotonus, Syringomyelia, Spina bifida, Agenesis of c... |
OMIM:207950 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Abnormality of the vertebral column, Myelopathy |
OMIM:602475 |
Meckel Syndrome, Type 10 |
|
Abnormal pinna morphology, Cleft palate, Postaxial polydactyly, Anencephaly, Dilated fourth ventr... |
OMIM:614175 |
Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Ca... |
ORPHA:3384 |
Distal Monosomy 10Q |
|
Facial diplegia, High palate, Pectus excavatum, Prominent fingertip pads, Craniosynostosis, Cleft... |
ORPHA:96148 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Cleft palate, Short neck, 11 pairs of ribs, Multinucleated giant ... |
OMIM:108720 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Pulmonary hypoplasia |
OMIM:616867 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
High palate, Cleft palate, Platyspondyly, Pectus carinatum, Ulnar deviation of finger, Abnormal e... |
ORPHA:93359 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Cleft palate, Craniosyn... |
OMIM:178110 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... |
OMIM:304400 |
Baller-Gerold Syndrome |
|
High palate, Hydrocephalus, Cleft palate, Hypoplasia of the radius, Hypoplasia of the ulna, Optic... |
OMIM:218600 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Overfolded helix, Abnormal 5th metacarpal morphology, Cone-shaped epiphysis, Dysgenesis of the ce... |
ORPHA:397715 |
Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Vent... |
OMIM:179613 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Abnormal head movements, Chorea |
OMIM:616939 |
Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Kyphosis, Accelerated skeletal maturation, Abnormal form of the vertebral bodies, A... |
ORPHA:1354 |
Mosaic Trisomy 1 |
|
Abnormal pinna morphology, Cleft palate, 2-3 finger syndactyly, Finger clinodactyly, Complete dup... |
ORPHA:1692 |
Autosomal Recessive Robinow Syndrome |
|
Pectus excavatum, Short neck, Pectus carinatum, Sandal gap, Umbilical hernia, Ankyloglossia, Sacr... |
ORPHA:1507 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus, Abnormal pinna morphology, Vaginal atresia, Arachnodactyly, Femoral bowing, Stenos... |
OMIM:207410 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Pectus excavatum, Hemivertebrae, Pectus carinatum, Spinal canal stenosis, Clinodactyly of the 5th... |
OMIM:263540 |
Spondylometaphyseal Dysplasia, Axial |
|
Narrow chest, Coxa vara, Narrow greater sciatic notch, Platyspondyly, Anterior rib cupping, Short... |
OMIM:602271 |
White Forelock With Malformations |
|
Sprengel anomaly, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Spina bifida... |
ORPHA:2475 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Flat capital femora... |
OMIM:609223 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
High palate, Osteopenia, Short neck, Hammertoe, Ventral hernia, Umbilical hernia, Cervical C2/C3 ... |
OMIM:618000 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Posterior lenticonus, Iris coloboma, Chorioretinal coloboma |
ORPHA:231736 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Low-set ears, Hydrocephalus, Thin ribs, Platyspondyly, Cerebellar hypoplasia, Metaphyseal cupping... |
ORPHA:163966 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Brachydactyly, Scoliosis, Spina bifida occulta |
ORPHA:2956 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Vertebral segmentation defect, Abnormal helix morphology, Congeni... |
ORPHA:1120 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Pulmonary hypoplasia |
OMIM:617468 |
Trisomy 18 |
|
Cleft palate, Anencephaly, Omphalocele, Delayed skeletal maturation, Intrauterine growth retardat... |
ORPHA:3380 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Narrow chest, Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Short ribs, Brac... |
OMIM:617895 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Miscarriage, Absent glenoid fo... |
ORPHA:96334 |
Marshall-Smith Syndrome |
|
High palate, Hydrocephalus, Pectus excavatum, Short sternum, Slender finger, Prominent fingertip ... |
OMIM:602535 |
Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Narrow chest, Hydrocephalus, Abnormal pinna morphology, Congenital diaphragmatic hernia, Cleft pa... |
OMIM:616546 |
Cooper-Jabs Syndrome |
|
Conductive hearing impairment, Abnormality of the middle ear, Congenital diaphragmatic hernia, Ab... |
ORPHA:1488 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
OMIM:267430 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Diastasis recti, Overlapping toe, Intrauterine growth retardation, Pectus excavatum, Prominent st... |
ORPHA:254528 |
Schneckenbecken Dysplasia |
|
Cleft palate, Short neck, Platyspondyly, Nonimmune hydrops fetalis, Ovoid vertebral bodies, Umbil... |
OMIM:269250 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Chorea, Progressive extrapyramidal movement disorder, Athetosis, Abnormal head movements,... |
ORPHA:382 |
Masa Syndrome |
|
Hydrocephalus, Adducted thumb, Microcephaly, Spastic paraplegia, Paraplegia, Shuffling gait, Vent... |
OMIM:303350 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Coarctation of aorta, Tetralogy of Fal... |
OMIM:601186 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Large fleshy ears, Wide anterior fontanel, Congenital diaphragmatic hernia, Narrow greater sciati... |
OMIM:263210 |
Donnai-Barrow Syndrome |
|
Sensorineural hearing impairment, Low-set ears, Wide anterior fontanel, Short sternum, Congenital... |
OMIM:222448 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Metaphyseal cupping of proximal phalanges, Hydrocephalus, Metaphyseal cupping, Thin ribs, Platysp... |
OMIM:300863 |
Ovarian Dysgenesis 3 |
|
Female infertility, Aplasia of the ovary, Primary amenorrhea |
OMIM:614324 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
2-3 toe syndactyly, Lumbar hyperlordosis, Butterfly vertebrae, Narrow palate, Mitral regurgitatio... |
ORPHA:313892 |
Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... |
ORPHA:1330 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Osteogenesis Imperfecta, Type Xiii |
|
Dislocated radial head, Protruding ear, Kyphoscoliosis, Increased bone mineral density, Arachnoda... |
OMIM:614856 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Pulmonary hypoplasia |
OMIM:236500 |
Achondrogenesis Type 2 |
|
Pulmonary hypoplasia |
ORPHA:93296 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Abnormal hip bone morphology, Short nec... |
ORPHA:2522 |
Simpson-Golabi-Behmel Syndrome |
|
Pectus excavatum, Abnormal helix morphology, Accelerated skeletal maturation, Cleft palate, Aplas... |
ORPHA:373 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Sensorineural hearing impairment, Pulmonary artery hypoplasia, Ano... |
ORPHA:2326 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Impaired vibration sensation in the lower limbs, Limb hypertonia, Hypoplasia of the corpus callos... |
ORPHA:401815 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Cerebral cortical atrophy, Babinski sign, Difficulty walking, Progressive spastic paraplegia, Lim... |
ORPHA:401820 |
Huntington Disease-Like 3 |
|
Broad-based gait, Cerebral cortical atrophy, Extrapyramidal muscular rigidity, Extrapyramidal dys... |
ORPHA:157946 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Rib fusion, Anal atresia, Inguinal hernia, Thin ribs, Short ribs, Hemivertebrae, Supernumerary ve... |
OMIM:271520 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Sprengel anomaly, Anal atresia, Prune belly, Thoracolumbar scoliosis, Cervical ribs, Omphalocele,... |
OMIM:601389 |
Anophthalmia Plus Syndrome |
|
Low-set, posteriorly rotated ears, Iris coloboma, Eyelid coloboma, Spina bifida, Blepharophimosis... |
ORPHA:1104 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, High palate, Hydrocephalus, Hemivertebrae, Brachydactyly, Scoliosis, Abnormal f... |
ORPHA:2180 |
Joubert Syndrome 36 |
|
Sensorineural hearing impairment, Mesoaxial hand polydactyly, Pectus carinatum, Molar tooth sign ... |
OMIM:618763 |
Lethal Congenital Contracture Syndrome 10 |
|
Narrow chest, High palate, Thoracic scoliosis, Narrow palate, Adducted thumb, Oligohydramnios, Ov... |
OMIM:617022 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Sensorineural hearing impairment, Irregular vertebral endplates, Cone-shaped epiphyses of the pha... |
OMIM:609616 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Abnormality of cartilage of external ear, Hypoplastic left heart, ... |
ORPHA:3426 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta, Absence of the sacrum, Asymme... |
OMIM:182940 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Knee pain, Intervertebral space n... |
ORPHA:166011 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly |
ORPHA:2476 |
Dysplastic Cortical Hyperostosis |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:2204 |
Brachydactyly, Type B1 |
|
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed... |
OMIM:113000 |
Wolf-Hirschhorn Syndrome |
|
Cleft palate, Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Delayed skeletal maturation, I... |
ORPHA:280 |
Kniest Dysplasia |
|
Enlarged joints, Pectus excavatum, Cleft palate, Short neck, Platyspondyly, Hypoplastic pelvis, U... |
OMIM:156550 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... |
OMIM:619657 |
Thanatophoric Dysplasia Type 2 |
|
Narrow chest, Kyphosis, Hydrocephalus, Holoprosencephaly, Platyspondyly, Brachydactyly, Joint hyp... |
ORPHA:93274 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Jerky head movements, Involuntary movements, Postur... |
ORPHA:98807 |
Apert Syndrome |
|
Hydrocephalus, Cutaneous syndactyly, Broad distal phalanx of the thumb, Synostosis of carpal bone... |
OMIM:101200 |
Chylomicron Retention Disease |
|
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... |
OMIM:246700 |
Pendred Syndrome |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Pulmonary hypoplasia |
ORPHA:1486 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Motor stereotypy, Broad-based gait, Hydrocephalus, Microcephaly, Optic atrophy, Tremor, Spastic t... |
OMIM:619470 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Low-set, posteriorly rotated ears, Abnormal aortic arch morphology, M... |
ORPHA:1110 |
Thanatophoric Dysplasia, Type I |
|
Hydrocephalus, Champagne cork sign, Femoral bowing, Short neck, Platyspondyly, Hypoplastic pelvis... |
OMIM:187600 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Platyspondyly, Upper limb undergrowth, Optic atrophy, Flared, irregular rib ends, Tho... |
ORPHA:168549 |
Achondroplasia |
|
Limited hip extension, Bowing of the legs, Hydrocephalus, Conductive hearing impairment, Lumbar h... |
OMIM:100800 |
Schwartz-Jampel Syndrome, Type 1 |
|
High palate, Overfolded helix, Congenital hip dislocation, Short neck, Platyspondyly, Pectus cari... |
OMIM:255800 |
Iniencephaly |
|
Myelomeningocele, Low-set ears, Hydrocephalus, Anal atresia, Duodenal atresia, Congenital diaphra... |
ORPHA:63259 |
Pallister-Hall Syndrome |
|
Cleft palate, Hemivertebrae, Y-shaped metacarpals, Anteriorly placed anus, Radial head subluxatio... |
OMIM:146510 |
Kennerknecht syndrome |
|
High palate, Abnormal pinna morphology, Malrotation of colon, Toe clinodactyly, Short neck, Thora... |
OMIM:600908 |
Minicore Myopathy With External Ophthalmoplegia |
|
Pulmonary hypoplasia, Recurrent respiratory infections |
OMIM:255320 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, Abnormal pinna morphology, Atrial septal de... |
ORPHA:477817 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Diastasis recti, Coat hanger sign of ribs, Polyhydramnios, Omphalocele, Umbilical hernia, Thoraci... |
ORPHA:254534 |
Craniorachischisis |
|
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum |
ORPHA:63260 |
Kbg Syndrome |
|
Delayed skeletal maturation, Rib fusion, Protruding ear, Clinodactyly of the 5th finger, Ulnar de... |
OMIM:148050 |
Alg3-Cdg |
|
Abnormal pinna morphology, Coarctation of the descending aortic arch, Neural tube defect, Hearing... |
ORPHA:79321 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hydrocephalus, Atrioventricular canal defect, Ventricular septal defect, Cardiomegaly, Double out... |
OMIM:306955 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
High palate, Hydrocephalus, 11 pairs of ribs, Optic disc coloboma, Optic atrophy, Optic disc pall... |
OMIM:607872 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Macroglossia, Scoliosis, Hyperlordosis, Cerebellar atrophy, Facial palsy, Vertebral fus... |
OMIM:606612 |
Diabetic Embryopathy |
|
Hydrocephalus, Microtia, Low-set, posteriorly rotated ears, Tetralogy of Fallot, Ventricular sept... |
ORPHA:1926 |
Episodic Ataxia Type 4 |
|
Ataxia, Frequent falls, Vertigo, Abnormal head movements, Incoordination |
ORPHA:79136 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, In... |
OMIM:184250 |
Band Heterotopia |
|
Hydrocephalus, Polymicrogyria, Ventriculomegaly, Spasticity, Subcortical band heterotopia, Agenes... |
OMIM:600348 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Vertebral segmentation defect, High palate, Butterfly vertebrae, Cleft palate, Microtia, Small ha... |
OMIM:611209 |
Thanatophoric Dysplasia |
|
Narrow chest, Kyphosis, Hydrocephalus, Intrauterine growth retardation, Joint stiffness, Platyspo... |
ORPHA:2655 |
Spondyloepiphyseal Dysplasia Congenita |
|
Cleft palate, Barrel-shaped chest, Short neck, Platyspondyly, Pectus carinatum, Limitation of kne... |
OMIM:183900 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology |
ORPHA:488635 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Achondrogenesis Type 1B |
|
Narrow chest, Thickened nuchal skin fold, Short neck, Hydrops fetalis, Abnormal rib morphology, F... |
ORPHA:93298 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... |
OMIM:610947 |
Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Increased bone mineral density, Cleft palate, Abnormal vertebral ... |
ORPHA:90650 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cleft palate, Osteopenia, Short neck, Platyspondyly, Intrauterine growth retardation, Thoracic hy... |
OMIM:616897 |
Serkal Syndrome |
|
Pulmonary hypoplasia |
ORPHA:139466 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the lungs, Hydranencephaly, Abnormal pleura morphology, Holoprosencephaly |
ORPHA:2570 |
Mosaic Trisomy 14 |
|
Narrow chest, High palate, Ectopic anus, Cleft palate, Microtia, Camptodactyly of finger, Short n... |
ORPHA:1703 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Generalized ost... |
ORPHA:1159 |
Spondylosis, Cervical |
|
Spondylolysis, Cervical spondylosis, Spondylolisthesis, Spina bifida occulta |
OMIM:184300 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Broad metacarpals, Papilledema, Osteolysis involving bones of the lower limbs, Osteopenia, Broad ... |
ORPHA:371428 |
Femoral-Facial Syndrome |
|
Abnormal pinna morphology, Cleft palate, Short fourth metatarsal, Hemivertebrae, Radioulnar synos... |
OMIM:134780 |
Al-Gazali-Bakalinova Syndrome |
|
Pectus excavatum, Inguinal hernia, Short neck, Pectus carinatum, Genu valgum, Clinodactyly, Molar... |
OMIM:607131 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
High palate, Prominent sternum, Short neck, Platyspondyly, Optic disc pallor, Cone-shaped capital... |
OMIM:300232 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Deafness, Autosomal Dominant 80 |
|
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... |
OMIM:619274 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Spermatogenic Failure 15 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:616950 |
Bardet-Biedl Syndrome 1 |
|
Gait imbalance, Ataxia, Vaginal atresia, Postaxial polydactyly, Micropenis, Poor coordination, Br... |
OMIM:209900 |
Amish Lethal Microcephaly |
|
Microcephaly, Limb hypertonia, Optic atrophy, Lissencephaly, Ventriculomegaly, Spina bifida, Agen... |
ORPHA:99742 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
Hypoplastic Left Heart Syndrome |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... |
ORPHA:2248 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal antihelix morphology, Kyphosis, Clinodactyly of the 5th finger, Hypoplastic vertebral bo... |
ORPHA:2916 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Spren... |
OMIM:214300 |
Cog1-Cdg |
|
Posterior rib gap, Rib fusion, Vertebral segmentation defect, Kyphoscoliosis, Butterfly vertebrae... |
ORPHA:263508 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... |
OMIM:614980 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Latera... |
OMIM:171480 |
Miller-Dieker Syndrome |
|
Polyhydramnios, Clinodactyly of the 5th finger, Omphalocele, Sacral dimple |
ORPHA:531 |
Meckel Syndrome, Type 6 |
|
Hydrocephalus, Anencephaly, Pulmonary hypoplasia, Bilobed right lung, Occipital encephalocele |
OMIM:612284 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... |
ORPHA:174 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Atelosteogenesis, Type Ii |
|
Pulmonary hypoplasia |
OMIM:256050 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the tongue, Arachnodactyly, Overfolded heli... |
ORPHA:2759 |
Trigonocephaly 1 |
|
Lumbar hemivertebrae, Meckel diverticulum, Omphalocele, Craniosynostosis |
OMIM:190440 |
Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydrometrocolpos, Transverse vaginal septum, Vaginal atresia, Cryptorchidi... |
OMIM:236700 |
Thanatophoric Dysplasia, Type Ii |
|
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... |
OMIM:187601 |
Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Increased vertebral height, Platyspondyly, Short thorax, Abnormal metaphysis morp... |
ORPHA:93304 |
Craniodiaphyseal Dysplasia |
|
Conductive hearing impairment, Craniofacial hyperostosis, Stenosis of the external auditory canal... |
ORPHA:1513 |
22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Transposition of the grea... |
ORPHA:1727 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Optic atrophy, Pyloric stenosis, Spinal canal stenosis, Rib fusion, Joint stiff... |
ORPHA:1606 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... |
OMIM:271650 |
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Urogenital sinus anomaly, Hypoplasia of penis, Ambiguous genitalia, male, Bifid scrotum, Ambiguou... |
ORPHA:753 |
Lissencephaly, X-Linked, 1 |
|
Ataxia, Micropenis, Agyria, Lissencephaly, Spasticity, Pachygyria, Agenesis of corpus callosum |
OMIM:300067 |
Slc35A2-Cdg |
|
Craniosynostosis, Osteopenia, Hip subluxation, Limb joint contracture, Intrauterine growth retard... |
ORPHA:356961 |
Pentalogy Of Cantrell |
|
Hydrocephalus, Abnormal sternum morphology, Congenital diaphragmatic hernia, Cleft palate, Anence... |
ORPHA:1335 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Platyspondyly, Irregular acetabular roof, Genu valgum, Irregular iliac crest, Abnormal metaphysis... |
ORPHA:93316 |
Fryns Syndrome |
|
Abnormal helix morphology, Prominent fingertip pads, Cleft palate, Short neck, Broad ribs, Omphal... |
OMIM:229850 |
Mucopolysaccharidosis, Type Vi |
|
Hydrocephalus, Prominent sternum, Delayed eruption of teeth, Pectus carinatum, Genu valgum, Broad... |
OMIM:253200 |
Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency |
OMIM:608996 |