| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... |
OMIM:619938 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
| Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
| Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... |
OMIM:618723 |
| Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
| Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:300511 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
| Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
| Premature Ovarian Failure 17 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... |
OMIM:619146 |
| Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
| Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea |
OMIM:616946 |
| Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... |
OMIM:618096 |
| Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
| Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti... |
OMIM:240950 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
| Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
| Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
| Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
| Premature Ovarian Failure 14 |
|
Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ... |
OMIM:618014 |
| Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
|
Neurofibrillary tangles, Cerebral cortex with spongiform changes |
OMIM:605055 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
| Early-onset Alzheimer disease with cerebral amyloid angiopathy |
|
Neurofibrillary tangles |
DECIPHER:48 |
| Alzheimer Disease 2 |
|
Neurofibrillary tangles |
OMIM:104310 |
| Hyperprolactinemia |
|
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration |
OMIM:615555 |
| Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
| 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 14 |
|
Male infertility, Abnormal prolactin level, Azoospermia, Abnormal circulating testosterone concen... |
OMIM:615842 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
| Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
| Ovarian Dysgenesis 5 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:617690 |
| Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... |
OMIM:620311 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Alzheimer Disease, Familial, 1 |
|
Neurofibrillary tangles |
OMIM:104300 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
| Angioedema, Hereditary, 6 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619363 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
| Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... |
OMIM:616185 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Ovarian Dysgenesis 1 |
|
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233300 |
| Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... |
OMIM:612965 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
| Ovarian Dysgenesis 8 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Dec... |
OMIM:618187 |
| Precocious Puberty, Central, 1 |
|
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... |
OMIM:176400 |
| Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
| 46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
| Alzheimer Disease 9, Susceptibility To |
|
Neurofibrillary tangles, Hippocampal atrophy, Cerebral cortical atrophy |
OMIM:608907 |
| Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
| 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 |
| Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
| Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... |
OMIM:300068 |
| Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| Heparin Cofactor Ii Deficiency |
|
Post-angioplasty coronary artery restenosis |
OMIM:612356 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Pseudodiastrophic Dysplasia |
|
Omphalocele, Platyspondyly, Scoliosis |
ORPHA:85174 |
| 46,Xy Sex Reversal 5 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level |
OMIM:613080 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
| Aneurysm Of Interventricular Septum |
|
Abnormal ventricular septum morphology, Vascular dilatation |
OMIM:105805 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
| Tricuspid Atresia |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... |
ORPHA:1209 |
| Brachyolmia, Maroteaux Type |
|
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis |
ORPHA:93302 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Neurofibrillary tangles |
OMIM:619132 |
| Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
| Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Platyspondyly, Short thorax, Kyphoscoliosis |
ORPHA:93304 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
| Factor V Excess With Spontaneous Thrombosis |
|
Peripheral arterial stenosis |
OMIM:134400 |
| Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis |
OMIM:185500 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c... |
OMIM:109730 |
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
Neurofibrillary tangles, Cerebral cortex with spongiform changes |
OMIM:606688 |
| Lissencephaly 1 |
|
Dilation of Virchow-Robin spaces, Subcortical band heterotopia, Gray matter heterotopia, Lissence... |
OMIM:607432 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
| Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
| Angioedema, Hereditary, 5 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619361 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Intrauterine growth retarda... |
OMIM:615411 |
| Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... |
OMIM:614779 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Hypoalphalipoproteinemia, Primary, 1 |
|
Premature coronary artery atherosclerosis |
OMIM:604091 |
| Spastic Paraplegia 25, Autosomal Recessive |
|
Back pain, Spastic paraplegia, Spinal cord compression |
OMIM:608220 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
| Isolated Klippel-Feil Syndrome |
|
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder ... |
ORPHA:2345 |
| Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... |
OMIM:617205 |
| 46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... |
OMIM:400045 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
| Dementia, Lewy Body |
|
Lewy bodies |
OMIM:127750 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Pectus carinatum, Irregular vertebral endplates, Platyspondyly, Thoracic ky... |
OMIM:609223 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Death in infancy, Vertebral fusion, Recurrent respiratory infections, Block vertebrae,... |
OMIM:277300 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect |
OMIM:608681 |
| Alzheimer Disease 4 |
|
Neurofibrillary tangles, Cerebral amyloid angiopathy |
OMIM:606889 |
| Spondylocamptodactyly Syndrome |
|
Platyspondyly, Camptodactyly of finger, Scoliosis |
ORPHA:3180 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
| Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Platyspondyly, Na... |
ORPHA:93267 |
| Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... |
ORPHA:169805 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Abnormal o... |
OMIM:613686 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Neurofibrillary tangles, Lewy bodies, Cerebral cortical atrophy |
OMIM:616840 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Ulnar deviation of the hand, Femur fracture, Congenital hip dislocation, Multiple ... |
OMIM:618291 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Death in infancy, Rocker bottom foot, Micrognathia, Cerebral atrophy, Lateral ventricle dilatatio... |
OMIM:618266 |
| Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis |
ORPHA:79094 |
| Dental Anomalies And Short Stature |
|
Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vertebral interpedicular di... |
OMIM:601216 |
| Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormal rib morphology, Scoliosis, Pectus carinatum |
ORPHA:3268 |
| Familial Cervical Artery Dissection |
|
Carotid artery dissection, Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Recu... |
ORPHA:36382 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Omphalocele, Thoracolumbar scoliosis, Cervical ribs, Sprengel anomaly, Prune belly |
OMIM:601389 |
| Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... |
ORPHA:98878 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Ovoid vertebral bodies, Anterior rib cupping, Short neck, Lateral clavicle ... |
OMIM:269250 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... |
ORPHA:2410 |
| Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular ... |
ORPHA:229 |
| Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
| Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Platyspondyly, Anterior beaking of lumbar vertebrae |
OMIM:271620 |
| Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Coxa ... |
ORPHA:1988 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Flared, irregular rib ends |
ORPHA:168555 |
| Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect |
OMIM:126320 |
| Progressive Non-Fluent Aphasia |
|
Neurofibrillary tangles, Temporal cortical atrophy, Frontotemporal cerebral atrophy, Abnormal cer... |
ORPHA:100070 |
| 46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Brachyolmia Type 1, Toledo Type |
|
Back pain, Kyphoscoliosis, Short neck, Precocious costochondral ossification, Irregular vertebral... |
OMIM:271630 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Vertebral segmentation defect, Rhizomel... |
OMIM:611209 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Recurrent respiratory infections, Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morpho... |
ORPHA:1797 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter h... |
OMIM:604213 |
| Acalvaria |
|
Omphalocele, Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly |
ORPHA:945 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Neurofibrillary tangles, Cerebral amyloid angiopathy |
OMIM:117300 |
| Caudal Duplication |
|
Omphalocele, Spina bifida, Abnormal sacrum morphology, Myelomeningocele, Bifid sacrum, Vertebral ... |
ORPHA:1756 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Redundant skin, Micromelia, Kyphosis, Hydrocephalus, Short thorax, Patent ductus a... |
ORPHA:93274 |
| Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Pectus carinatum, Squared-off platyspondyly, Scoliosis, Interver... |
OMIM:271530 |
| Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra... |
OMIM:224300 |
| Martsolf Syndrome 2 |
|
Overlapping toe, Camptodactyly of finger, Lateral ventricle dilatation, Brain atrophy, Camptodact... |
OMIM:619420 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation, Brain atrophy, Cerebral cortical hemiatrophy, Hemiatrophy, Scoliosis |
ORPHA:306669 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
| Thanatophoric Dysplasia |
|
Redundant skin, Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Patent ductus ... |
ORPHA:2655 |
| Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal rib morphology, Narrow chest, Abnormal form of the vertebral bodies |
ORPHA:1354 |
| Diaphanospondylodysostosis |
|
Missing ribs, Short neck, Myelomeningocele, Short thorax, Narrow pelvis bone, Enlarged thorax, Ab... |
ORPHA:66637 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Degeneration of anterior horn cells, Lateral ventricle dilatation, Congenital contracture, Talipe... |
OMIM:607596 |
| Alzheimer Disease 3 |
|
Neurofibrillary tangles, Cerebral cortical atrophy |
OMIM:607822 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Micrognathia, Pectus excavatum, Short neck, Hyperlordosis, Kyphosis... |
ORPHA:2522 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Redundant skin, Micrognathia, Short neck, Osteoarthritis, General... |
OMIM:618000 |
| Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
| Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal maturation, Distal w... |
OMIM:602535 |
| Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the ver... |
ORPHA:2790 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
| Atelosteogenesis, Type I |
|
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonat... |
OMIM:108720 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Redundant neck skin, Micrognathia, Proximal femoral metaphyseal irregula... |
ORPHA:397715 |
| Sub-Cortical Nodular Heterotopia |
|
Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig... |
ORPHA:101029 |
| Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
| Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
| Boomerang Dysplasia |
|
Omphalocele, Abnormally ossified vertebrae, Aplasia/Hypoplasia of the abdominal wall musculature,... |
ORPHA:1263 |
| Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Retinal arteriolar constriction, Peripheral arterial stenosis |
OMIM:124950 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
| Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral... |
ORPHA:2635 |
| Lissencephaly, X-Linked, 1 |
|
Postnatal growth retardation, Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of cor... |
OMIM:300067 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Short neck, Thin ribs, Irregular vertebral endplates, Platyspondyly, Scoliosis, Narrow vertebral ... |
OMIM:618395 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Short neck, Bell-shaped thorax, Platyspondyly, Short ribs, Scoliosis, Verte... |
OMIM:602557 |
| Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... |
OMIM:186500 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... |
ORPHA:2311 |
| Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Short neck, Wide anterior fontanel, A... |
ORPHA:2021 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
| Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Beaking of vertebral bodies, Irregular vertebral endplates, Platyspondyly, Schmorl's node |
OMIM:604864 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neurofibrillary tangles, Lewy bodies, Cerebral cortical atrophy |
OMIM:607485 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Syndactyly, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosyno... |
OMIM:619451 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... |
ORPHA:99429 |
| Lissencephaly 3 |
|
Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr... |
OMIM:611603 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly |
OMIM:184095 |
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
| Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Subcortical heterotopia, Polymicrogyria |
OMIM:614483 |
| Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Absent thumb, Short neck, Short thumb, Sho... |
OMIM:609053 |
| Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
| Becker Nevus Syndrome |
|
Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, ... |
ORPHA:64755 |
| Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly |
OMIM:214300 |
| Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
| Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Hemivertebrae, Short r... |
OMIM:173800 |
| Thanatophoric Dysplasia Type 1 |
|
Redundant skin, Micromelia, Femoral bowing, Narrow chest, Wide anterior fontanel, Patent ductus a... |
ORPHA:1860 |
| Glutamine Deficiency, Congenital |
|
Recurrent respiratory infections, Micromelia, Erythema, Flexion contracture, Subependymal cysts, ... |
OMIM:610015 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae, Agenesis of corpus callosum |
ORPHA:238722 |
| Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... |
ORPHA:206484 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
| Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Dentinogenes... |
OMIM:259440 |
| Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
| Kyphomelic Dysplasia |
|
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Undulate ribs, Abnormal ... |
ORPHA:1801 |
| Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
| Congenital Heart Block |
|
Cyanosis, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive he... |
ORPHA:60041 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
| Microlissencephaly |
|
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... |
ORPHA:1083 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in infancy, Intraventricular hemorrhage, Death in adolescence, Prolonged prothrombin time, ... |
OMIM:619055 |
| Omphalocele |
|
Omphalocele |
ORPHA:660 |
| Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Bifid distal phalanx of the thumb, Overweight, Triangular shaped distal phalanx of... |
ORPHA:370010 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
| Isolated Hemihyperplasia |
|
Myelomeningocele, Asymmetry of the thorax, Inguinal hernia, Scoliosis |
ORPHA:2128 |
| Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
| Slc35A2-Cdg |
|
Cerebellar atrophy, Osteopenia, Failure to thrive in infancy, Camptodactyly of finger, Joint hype... |
ORPHA:356961 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Micrognathia, Short neck, Generalized joint laxity, Hyperextensible skin, Tho... |
ORPHA:508498 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Prominent superficial veins, Failure to thrive, Bowing of the long bones, Redundant s... |
OMIM:612940 |
| Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
| Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Abnormal thorax morphology, Small hand, Holoprosencephaly, ... |
ORPHA:1445 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele, Hydrocephalus |
OMIM:258320 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Failure to thrive in infancy, Limb joint contracture, Ankle flexion contracture, Micrognathia, Sh... |
ORPHA:284417 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Beaking of vertebral bodies, Vertebral wedging, Platyspondyly, Kyphoscoliosis |
OMIM:616583 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Platyspondyly, Abnormal vertebral morphology |
ORPHA:163665 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial septal defect, Subvalvul... |
OMIM:108900 |
| Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
| Afibrinogenemia, Congenital |
|
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed... |
OMIM:202400 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Lewy bodies |
OMIM:614251 |
| Craniosynostosis 6 |
|
Cerebellar atrophy, Bicoronal synostosis, Delayed cranial suture closure, Craniosynostosis, Later... |
OMIM:616602 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ulnar deviation of the hand, Proximal placement of thumb, Clinodactyly of the 5th toe, Partial ag... |
OMIM:620113 |
| Familial Afibrinogenemia |
|
Abnormal bleeding, Miscarriage, Epistaxis, Cerebral hemorrhage, Gingival bleeding |
ORPHA:98880 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Ovoid vertebral bodies, Enlargement of the costochondral junction, Pectus carinatum, Platyspondyl... |
OMIM:609052 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
| Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
| Parkinson Disease 21 |
|
Lewy bodies |
OMIM:616361 |
| Periventricular Nodular Heterotopia 1 |
|
Cerebral hemorrhage, Patent ductus arteriosus, Abnormality of neuronal migration, Gray matter het... |
OMIM:300049 |
| Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... |
OMIM:305620 |
| Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Micrognathia, Hemivertebr... |
OMIM:151050 |
| Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
| Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324708 |
| Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Recurrent respiratory infections, Short metacarpal, Thoracolumbar ky... |
OMIM:618853 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
| Weaver Syndrome |
|
Short fourth metatarsal, Accelerated skeletal maturation, Calcaneovalgus deformity, Hypoplastic i... |
OMIM:277590 |
| Spondylometaphyseal Dysplasia, Axial |
|
Anterior rib cupping, Platyspondyly, Narrow chest, Scoliosis, Thoracic hypoplasia |
OMIM:602271 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Congenital hip dislocation, Small for gestational age, Rocker bottom fo... |
ORPHA:3078 |
| Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly |
OMIM:269630 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Micrognathia, Short neck, Accelerated skeletal maturation, Multiple joint dislocation... |
OMIM:245600 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Bicoronal synostosis, Delayed closure of the anterior fontanelle, Lateral ventricle dilatation, S... |
OMIM:618736 |
| Pituicytoma |
|
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... |
ORPHA:251623 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... |
ORPHA:1436 |
| Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... |
ORPHA:331 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Severe postnatal growth retardation, Wide anterior fontanel, Umbilical hernia |
OMIM:275100 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Knee flexion contract... |
OMIM:265000 |
| Congenital Pulmonary Lymphangiectasia |
|
Tricuspid regurgitation, Cyanosis, Congestive heart failure, Hydrops fetalis, Chylopericardium, P... |
ORPHA:2414 |
| Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... |
OMIM:611548 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... |
OMIM:615300 |
| Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Pachygyria, Agyria |
ORPHA:1084 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Neurofibrillary tangles, Cerebral cortical atrophy |
ORPHA:1020 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid... |
OMIM:184100 |
| Scarf Syndrome |
|
Craniosynostosis, Short neck, Abnormal form of the vertebral bodies, Pectus carinatum, Cutis laxa... |
ORPHA:3134 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Hyperextensible skin, Joint contracture, Joint laxity, Increased susceptibility to fr... |
OMIM:615349 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Short thorax |
ORPHA:93283 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Pectus excavatum, Lateral ventricle dilatation, Patent ductus arteriosus, Pulmonary sequestration |
OMIM:618330 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Bone cyst, Cerebral atrophy, Lateral ventricle dilatation, Abnormal upper motor ... |
OMIM:221770 |
| Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
| Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Lewy bodies |
OMIM:619133 |
| Aicardi Syndrome |
|
Block vertebrae, Spina bifida, Missing ribs, Proximal placement of thumb, Partial agenesis of the... |
OMIM:304050 |
| Macular Dystrophy, Dominant Cystoid |
|
Cystoid macular edema, Edema |
OMIM:153880 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly |
OMIM:608361 |
| Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing,... |
OMIM:620076 |
| Partial Atrioventricular Septal Defect |
|
Transient ischemic attack, Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
| Diaminopentanuria |
|
Neurodegeneration |
OMIM:222350 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Short finger, Tapered finger |
OMIM:302000 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Failure to thrive in infancy, Periostitis, Osteolysis, Fused cervical ... |
OMIM:612852 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Partial agenesis of the corpus callosum, Flexion contracture, Cerebral... |
ORPHA:79243 |
| Trigonocephaly 1 |
|
Omphalocele, Lumbar hemivertebrae |
OMIM:190440 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
| Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... |
OMIM:102200 |
| Fibrochondrogenesis 1 |
|
Omphalocele, Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Short neck, Thin clavicl... |
OMIM:228520 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... |
OMIM:606842 |
| Lamb-Shaffer Syndrome |
|
Micrognathia, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
| Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
| 16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
| Miller-Dieker Syndrome |
|
Growth delay, Omphalocele, Lissencephaly |
ORPHA:531 |
| Hypochondroplasia |
|
Widened interpedicular distance, Lumbar hyperlordosis |
OMIM:146000 |
| Thoracolaryngopelvic Dysplasia |
|
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... |
OMIM:187760 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:3035 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
| Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hyperlordosis, Short neck, Platyspondyly, Squared-off platyspondyly, Scoliosis, Vertebral compres... |
ORPHA:93352 |
| Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... |
OMIM:600348 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
| Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
| Parkinson Disease 4, Autosomal Dominant |
|
Lewy bodies |
OMIM:605543 |
| Hypophosphatasia, Infantile |
|
Death in infancy, Recurrent respiratory infections, Micromelia, Bowing of the legs, Craniosynosto... |
OMIM:241500 |
| Malan Overgrowth Syndrome |
|
Accelerated skeletal maturation, Pectus excavatum, Slender long bone, Lateral ventricle dilatatio... |
ORPHA:420179 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Multiple pterygia, Micrognathia, Symphalangism affecting the phalanges of the hand, Abnormal ster... |
ORPHA:2990 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... |
OMIM:309620 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:610951 |
| Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ventriculomegaly, Small for gestational age, Micrognathia, Short neck, Hydrocephalus, Short stern... |
OMIM:257300 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Dilation of Virchow-Robin spaces, Tapered toe, Large for gestational age, Tapered ... |
ORPHA:544488 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Abnormality of neuronal migration |
OMIM:618709 |
| Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
| Bilateral Striopallidodentate Calcinosis |
|
Intrauterine growth retardation, Abnormality of neuronal migration, Subcutaneous hemorrhage |
ORPHA:1980 |
| Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Right ventricular failur... |
ORPHA:439 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... |
ORPHA:136 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... |
OMIM:118100 |
| Scarf Syndrome |
|
Barrel-shaped chest, Short neck, Abnormal form of the vertebral bodies, Pectus carinatum, Cutis l... |
OMIM:312830 |
| Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
| Sneddon Syndrome |
|
Facial palsy, Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke |
OMIM:182410 |
| Dural Sinus Malformation |
|
Papilledema, Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Sub... |
ORPHA:97339 |
| Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Recurrent joint dislocation, Congenital hip dislocation, Joint hypermobility, Generalized joint l... |
OMIM:130010 |
| Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Anterior rib punctate calcifications, Abnormal form of the vertebr... |
ORPHA:1426 |
| Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... |
ORPHA:185 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Joint laxity, Patent ductus arteriosus, Recurrent pneumonia, Lateral ve... |
OMIM:617751 |
| Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... |
OMIM:108800 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
| Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger synda... |
OMIM:101200 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Short neck, Micrognathia, Flexion contracture, Cardiomyopathy, Cervical ... |
OMIM:616549 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Meningocele, Short neck |
ORPHA:3456 |
| Tarp Syndrome |
|
Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hypoplasia of the radi... |
OMIM:311900 |
| 46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... |
ORPHA:243 |
| Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, C... |
ORPHA:2332 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Diastasis recti, Large placenta, Coat hanger sign of ribs, Umbilical hernia, Thoraci... |
ORPHA:254534 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... |
ORPHA:168558 |
| Cach Syndrome |
|
Cerebellar atrophy, T2 hypointense thalamus, Flexion contracture, Cerebral atrophy, Lateral ventr... |
ORPHA:135 |
| Macs Syndrome |
|
Joint laxity, Prolonged bleeding time, Brachydactyly, Dilation of Virchow-Robin spaces, Redundant... |
OMIM:613075 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... |
ORPHA:289548 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
| Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Congenital diaphragmatic hernia, Short neck, Missing ribs, Abnormal rib morphology, ... |
ORPHA:1834 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Platyspondyly, Vertebral wedging |
OMIM:617719 |
| Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contr... |
ORPHA:666 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
| Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
| Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Intracerebral periventricular calcifications, Cerebral calcification, Basal ganglia calcification... |
ORPHA:542310 |
| Becker Nevus Syndrome |
|
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis |
OMIM:604919 |
| Cerebrofaciothoracic Dysplasia |
|
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... |
ORPHA:1394 |
| Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
| Aarskog-Scott Syndrome |
|
Finger syndactyly, Genu recurvatum, Camptodactyly of finger, Short neck, Pectus excavatum, Conges... |
ORPHA:915 |
| Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
| Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and... |
ORPHA:90652 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
| Noonan Syndrome 14 |
|
Aortic regurgitation, Scapular winging, Short neck, Pectus excavatum, Kyphosis, Clinodactyly, Pec... |
OMIM:619745 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Hyperextensible skin, Postaxial hand polydactyly, Ventriculomegaly |
OMIM:615937 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Growth delay, Wormian bones, Congenital hip dislocation, Omphalocele |
OMIM:614450 |
| Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... |
ORPHA:347 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Adducted thumb, Global brain atrophy, Decreased body weight |
ORPHA:324422 |
| Primary Angiitis Of The Central Nervous System |
|
Cerebral vasculitis, Ataxia, Parkinsonism, Transient ischemic attack, Paralysis, Paraparesis, Hem... |
ORPHA:140989 |
| Melnick-Needles Syndrome |
|
Omphalocele, Short thorax, Abnormal rib morphology, Narrow chest, Scoliosis, Short clavicles, Ani... |
ORPHA:2484 |
| Shashi-Pena Syndrome |
|
Short metacarpal, Dilation of Virchow-Robin spaces, Accelerated skeletal maturation, Kyphosis, Pa... |
OMIM:617190 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly o... |
OMIM:274000 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Cerebellar atrophy, Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon... |
OMIM:606612 |
| Pseudo-Torch Syndrome 2 |
|
Ventriculomegaly, Cerebral hemorrhage, Patent ductus arteriosus, Thin ribs, Lateral ventricle dil... |
OMIM:617397 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Inguinal hernia, Anterior rib cupping, Hyperlordosis, Hypoplasia of the odontoid process, Pectus ... |
OMIM:184250 |
| Sifrim-Hitz-Weiss Syndrome |
|
Tapered finger, Patent ductus arteriosus, Flat acetabular roof, Coarctation of aorta, Fused cervi... |
OMIM:617159 |
| 1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Moyamoya phenomenon |
ORPHA:401986 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Broad ribs, Wide anterior fontanel, Vertebral arch anomaly |
ORPHA:85184 |
| Pallister-Hall Syndrome |
|
Decreased response to growth hormone stimulation test, Hemivertebrae, Abnormal lung lobation, Hol... |
OMIM:146510 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, 2-3 toe syndactyly, Pectus carin... |
ORPHA:313892 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Wide cranial sutures, Congenital hip dislocation, Pectus excavatum, Delayed skeletal maturation, ... |
OMIM:219150 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
| Frontometaphyseal Dysplasia |
|
Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Sprengel anomaly, S... |
ORPHA:1826 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Lateral ventricle dilatation, Neurodegeneration |
OMIM:615889 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Small for gestational age, Overweight, Pectus carinatum, ... |
OMIM:617796 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:250790 |
| Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Premature coronary artery atherosclerosis |
OMIM:618463 |
| Lymphatic Malformation 3 |
|
Lymphedema |
OMIM:613480 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation, Short palm |
OMIM:300982 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Multiple joint contractures, Micrognathia, Metaphyseal widening, G... |
ORPHA:536471 |
| Orofaciodigital Syndrome Type 3 |
|
Pectus excavatum, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum, Thoracic... |
ORPHA:2752 |
| Verheij Syndrome |
|
Branchial cyst, Joint laxity, Vertebral fusion, Small for gestational age, Short neck, Clinodacty... |
OMIM:615583 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly |
ORPHA:352682 |
| Distal Deletion 10Q |
|
Scapular winging, Failure to thrive, Sandal gap, Lumbar hyperlordosis, Prominent metopic ridge, T... |
ORPHA:96148 |
| Weaver Syndrome |
|
Finger syndactyly, Sandal gap, Redundant skin, Camptodactyly of finger, Micrognathia, Accelerated... |
ORPHA:3447 |
| Distal Duplication 15Q |
|
Pectus excavatum, Omphalocele, Camptodactyly of finger, Short neck |
ORPHA:1707 |
| Momo Syndrome |
|
Large for gestational age, Short neck, Obesity, Femoral bowing, Large hands, Short sternum, Abnor... |
ORPHA:2563 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Short neck, Tibial bowing, Hypoplasia of first ribs, Broad ribs,... |
OMIM:269150 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Neurofibrillary tangles, Lewy bodies, Cerebral atrophy |
OMIM:610217 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
| Craniofaciofrontodigital Syndrome |
|
Osteopenia, Abnormal cerebral vascular morphology, Large for gestational age, Pectus carinatum, F... |
ORPHA:363705 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Abnormal scapula morphology, Congenital diaphragmatic hernia |
ORPHA:2141 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Corpus callosum atrophy, Lateral ventricle dilatation, Atrophy/Degenera... |
ORPHA:77299 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
| 6P22 Microdeletion Syndrome |
|
Finger syndactyly, Redundant skin, Short neck, Patent ductus arteriosus, Hydrocephalus, Clinodactyly |
ORPHA:251046 |
| Gorlin Syndrome |
|
Vertebral fusion, Arachnodactyly, Hydrocephalus, Hemivertebrae, Vertebral wedging, Scoliosis, Bra... |
ORPHA:377 |
| Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Micromelia, Proximal placement of thumb, Microgn... |
ORPHA:628 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Short stature, Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Delaye... |
ORPHA:280679 |
| Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
| Donnai-Barrow Syndrome |
|
Wide anterior fontanel, Partial agenesis of the corpus callosum, Short sternum, Umbilical hernia,... |
OMIM:222448 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... |
OMIM:268310 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
| Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:312150 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping fingers, Overlapping toe, Kyphosis, Recurrent pneumonia, Deviation... |
ORPHA:464738 |
| Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Thoracolumbar scoliosis, Kyphosis, Knee flexion contracture, Pectus carinatum, P... |
OMIM:313420 |
| Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Long clavicles, Diastasis recti, Kyphoscoliosis, Flexion contractur... |
OMIM:608149 |
| Mosaic Trisomy 1 |
|
Thoracic scoliosis, Finger clinodactyly, Pulmonary artery atresia, Absent distal interphalangeal ... |
ORPHA:1692 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Corpus callosum atrophy, Dilated third ventricle, Kyphosis, Cerebral atrophy, Lateral ventricle d... |
OMIM:619244 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Death in infancy, Lateral ventricle dilatation, Cerebral cortical atrophy |
OMIM:617668 |
| Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Scoliosis, Anterior encephalocele |
OMIM:601357 |
| Gerstmann-Straussler Disease |
|
Neurofibrillary tangles |
OMIM:137440 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis, Kyphoscoliosis |
OMIM:612847 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Micrognathia, Rib fusion, Obesity, Hand polydactyly, Scoliosis, Failure to thri... |
ORPHA:261197 |
| Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Paralysis, Abnormal capillary physiology, Absent ankle pulse, Stroke, Supr... |
ORPHA:90064 |
| Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619101 |
| Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Anterior pituitary hypoplasia, Missing ribs, Patent ductus arteriosus, Rib fusi... |
OMIM:206900 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, 2-3 toe syndactyly, Lateral ventricle dilatation, Clinodactyly of the 5... |
OMIM:613443 |
| Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
| Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Hemiparesis, Intracranial hemorrhage, Arteriovenous mal... |
ORPHA:624 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Vocal cord paralysis, Scoliosis |
ORPHA:640 |
| Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Cardiogenic shock, I... |
ORPHA:449285 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar atrophy, Hyperextensibility of the finger joints, Hypermobility of toe joints, Abnorma... |
ORPHA:488635 |
| Basal Cell Nevus Syndrome 1 |
|
Short distal phalanx of the thumb, Vertebral fusion, Down-sloping shoulders, Spina bifida, Kyphos... |
OMIM:109400 |
| White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
| Bruck Syndrome 1 |
|
Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Vertebral wedgin... |
OMIM:259450 |
| Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Redundant skin, Wide anterior fontanel, Hydrocephalus, Congesti... |
OMIM:616482 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
| Parkinson Disease 8, Autosomal Dominant |
|
Lewy bodies, Substantia nigra gliosis |
OMIM:607060 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Platyspondyly, Scoliosis |
OMIM:618728 |
| Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Micrognathia, Flexion contracture, Knee flexion contracture, Congeni... |
ORPHA:536516 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Hydrocephalus, Ce... |
ORPHA:87 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Redundant neck skin, Large for gestational age, Micrognathia, Short neck, Flexion contracture, He... |
ORPHA:96334 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, L... |
OMIM:213980 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Low-output congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis |
ORPHA:91130 |
| Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... |
ORPHA:53719 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Irregularity of vertebral bodies, Platyspondyly |
OMIM:609324 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Reduced bone mineral density, Abnormal bo... |
ORPHA:93315 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:253290 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Joint laxity, Thoracic scoliosis, Kyphoscoliosis, Micrognathia, Metatarsus adductus, Partial agen... |
ORPHA:300570 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Pectus carinatum |
OMIM:616430 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Corpus callosum atrophy, Cerebral atrophy, Congenital foot contractures, Ankle clonus, Lateral ve... |
ORPHA:565624 |
| Sneddon Syndrome |
|
Tremor, Chorea, Arterial stenosis, Hemiparesis, Intracranial hemorrhage, Hypertension |
ORPHA:820 |
| Fibrochondrogenesis 2 |
|
Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia |
OMIM:614524 |
| Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:609441 |
| Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage, Vertebral compression fracture, Platyspondyly, Kyphoscoliosis |
OMIM:616507 |
| Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
| Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum |
OMIM:258850 |
| Perching Syndrome |
|
Cyanosis, Camptodactyly |
OMIM:617055 |
| Semantic Dementia |
|
Brain atrophy |
ORPHA:100069 |
| Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
| Tarp Syndrome |
|
Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus excavatum, Tet... |
ORPHA:2886 |
| Momo Syndrome |
|
Short neck, Delayed skeletal maturation, Obesity, Large hands, Short sternum |
OMIM:157980 |
| Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele |
ORPHA:3366 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
| Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse... |
OMIM:607323 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation, Talipes equinovarus, Scoliosis |
OMIM:256850 |
| Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
| Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Partial agenesis of the corpus callosum, Rib fusion, Small hand, H... |
ORPHA:50 |
| Geroderma Osteodysplastica |
|
Beaking of vertebral bodies, Redundant skin, Recurrent fractures, Hip dislocation, Osteoporosis, ... |
ORPHA:2078 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Micrognathia, Short neck, Partial agenesis of the corpus callosum, Delayed epiphyseal... |
OMIM:210710 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c... |
OMIM:178110 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Narrow chest, Horizontal ribs |
OMIM:617895 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Ventriculomegaly, Sandal gap, Joint hypermobility, Overweight, Small hand, Obesity, 2-3 toe synda... |
OMIM:619229 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Abnormal mitral valve morphology, Coronary artery atherosclerosis, Arterial stenosis, Cerebral ar... |
ORPHA:1192 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circulating follicle sti... |
ORPHA:3044 |
| Adams-Oliver Syndrome 2 |
|
Micrognathia, Hydrocephalus, Cerebral atrophy, Lateral ventricle dilatation, Absent distal phalan... |
OMIM:614219 |
| Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Tricuspid regurgitation, Spina bifida, Proximal placement of thumb, Abnormal th... |
ORPHA:1120 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Ankle clonus, Lateral ventricle dilatation, Dilated third ventricle, Diffuse cerebral atrophy |
ORPHA:363654 |
| Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydac... |
OMIM:263520 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Niemann-Pick Disease, Type C1 |
|
Neurofibrillary tangles |
OMIM:257220 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,... |
OMIM:604317 |
| Rafiq Syndrome |
|
Joint laxity, Short neck, Flexion contracture, Obesity, Cutis laxa, Truncal obesity, Clinodactyly... |
OMIM:614202 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Dilation of Virchow-Robin spaces, Lateral ventricle dila... |
OMIM:619517 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... |
ORPHA:163976 |
| Turnpenny-Fry Syndrome |
|
Pectus carinatum, Prominent interphalangeal joints, Long thorax, Narrow chest, Lumbar hyperlordos... |
OMIM:618371 |
| Arterial Tortuosity Syndrome |
|
Carotid artery dissection, Micrognathia, Flexion contracture, Pectus carinatum, Hyperextensible s... |
OMIM:208050 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Part... |
OMIM:619657 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Micrognathia, Pectus excavatum, Short neck, Hydrocephalus, Meningocele, Patent ... |
OMIM:130720 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures, Death in infancy, Abnormal trabecular bone morphology, Femur fracture, Hy... |
OMIM:612301 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Cranioectodermal Dysplasia 4 |
|
Sagittal craniosynostosis, Pectus excavatum, Recurrent pneumonia, Cutis laxa, Hip dysplasia, Cuta... |
OMIM:614378 |
| Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Cranial nerve compression, Palpitations, Positive ... |
ORPHA:94080 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... |
OMIM:605376 |
| Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... |
OMIM:617565 |
| Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Pulmonic stenosis, Atri... |
OMIM:220210 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of the costochondral junction, Pectus carin... |
OMIM:271650 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Kyphosis, Shield chest, Platysp... |
OMIM:313400 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta, Butterfly ver... |
OMIM:619227 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Recurrent respiratory infections, Clubbing, Lateral ventricle dilatation, Pleural effusion, Failu... |
OMIM:618606 |
| Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... |
OMIM:179613 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Sacral dimple, Dextrotransposition of the great arteries, Ankle clonus, Lateral ventricle dilatat... |
OMIM:619995 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... |
OMIM:616749 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Talipes equinovarus, Joint hypermobility, Camptodactyly |
OMIM:617333 |
| Gm1-Gangliosidosis, Type Iii |
|
Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae,... |
OMIM:230650 |
| Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... |
ORPHA:457083 |
| Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Increased intervertebral space, Thoracic platyspondyly, Narrow chest, Short ribs, Beaking of vert... |
OMIM:618961 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intraventricular hemorrhage, Intrauterine growth retardation |
ORPHA:79284 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
| Alagille Syndrome |
|
Peripheral pulmonary artery stenosis, Telangiectasia of the skin, Abnormal rib morphology, Abnorm... |
ORPHA:52 |
| Rin2 Syndrome |
|
Brachydactyly, Redundant skin, Increased susceptibility to fractures, Abnormal sternum morphology... |
ORPHA:217335 |
| Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Micrognathia, 2-3 toe syndactyly, Lateral ventricle dilatation, Joint contracture of ... |
OMIM:618914 |
| Periodontal Ehlers-Danlos Syndrome |
|
Joint hyperflexibility, Hyperextensible skin, Micrognathia |
ORPHA:75392 |
| Zttk Syndrome |
|
Aortic regurgitation, Unilateral lung agenesis, Joint hypermobility, Craniosynostosis, Dysplastic... |
OMIM:617140 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Long toe, Osteopenia, Arachnodactyly, Kyphoscoliosis, Flexion contracture, Cutis laxa, Joint hype... |
ORPHA:75496 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Clinodactyly of the 5th finger, Lateral ventricle dilatation, Parietal cortical atrophy, Kyphosco... |
OMIM:620075 |
| Cog5-Cdg |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Camptodactyly of finger, Short neck, Genu valgum, F... |
ORPHA:263487 |
| Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... |
OMIM:227500 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Platyspondyly, Hypoplasia of the odontoid process |
ORPHA:85172 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:300573 |
| Fetal Encasement Syndrome |
|
Omphalocele, Tetralogy of Fallot, Congenital diaphragmatic hernia |
OMIM:613630 |
| Constricting Bands, Congenital |
|
Encephalocele, Omphalocele, Abnormal rib cage morphology, Gastroschisis, Scoliosis, Bladder exstr... |
OMIM:217100 |
| Perrault Syndrome 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea |
OMIM:233400 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation |
OMIM:616816 |
| Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Agenesis of corpus ... |
ORPHA:280 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... |
OMIM:184460 |
| Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
| Craniorachischisis |
|
Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal... |
ORPHA:63260 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Epiphyseal stippling, Colpocephaly |
OMIM:614870 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Accelerated skeletal maturation, Abnormal lung lobation, Pectus carinatum, Vertebral segmentation... |
OMIM:312870 |
| Man1B1-Cdg |
|
Short neck, 2-3 toe syndactyly, Pectus carinatum, Cutis laxa, Truncal obesity, Clinodactyly of th... |
ORPHA:397941 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Short metatarsal, Abn... |
ORPHA:93351 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Short neck |
ORPHA:2234 |
| Myhre Syndrome |
|
Vertebral fusion, Short neck, Pericardial effusion, Patent ductus arteriosus, Coarctation of aort... |
OMIM:139210 |
| Mucopolysaccharidosis, Type Iva |
|
Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid pr... |
OMIM:253000 |
| Menkes Disease |
|
Joint laxity, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Cutis laxa, Intracranial hem... |
OMIM:309400 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Scoliosis, Paralysis |
OMIM:605285 |
| Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration, Abnormal endometrium m... |
ORPHA:314478 |
| Right Atrial Isomerism |
|
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... |
OMIM:208530 |
| Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract... |
OMIM:231070 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Joint dislocation, Metaphyseal dysplasia, Recurrent respiratory infections, Redundant neck skin, ... |
ORPHA:1842 |
| Coffin-Lowry Syndrome |
|
Redundant skin, Abnormal form of the vertebral bodies, Pectus carinatum, Short metacarpal, Pseudo... |
ORPHA:192 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Prolonged bleeding after dental ex... |
ORPHA:465 |
| De Barsy Syndrome |
|
Osteopenia, Congenital hip dislocation, Generalized joint laxity, Prominent veins on trunk, Coxa ... |
ORPHA:2962 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Platyspondyly |
OMIM:617974 |
| C Syndrome |
|
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, P... |
OMIM:211750 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ... |
ORPHA:860 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Narrow vertebral interpedicular distance, Scoliosis, Short neck |
OMIM:620073 |
| Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
| Pyle Disease |
|
Abnormal thorax morphology, Platyspondyly, Scoliosis |
OMIM:265900 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal intervertebral disk morphology, Pulmonary embolism, Congestive heart failure, Hypertensi... |
ORPHA:1345 |
| Wolf-Hirschhorn Syndrome |
|
Micrognathia, Abnormal form of the vertebral bodies, Agenesis of corpus callosum, Vertebral fusio... |
OMIM:194190 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hypertension... |
ORPHA:90065 |
| Mastocytosis, Cutaneous |
|
Urticaria, Erythema, Edema, Telangiectasia macularis eruptiva perstans |
OMIM:154800 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Hydrocephalus, Abnormal rib morphology, Obesity, Hemivertebrae, Abnormal form of the ... |
ORPHA:2180 |
| Ogden Syndrome |
|
Microretrognathia, Broad hallux, Delayed cranial suture closure, Pulmonary artery stenosis, Cereb... |
ORPHA:276432 |
| Dysspondyloenchondromatosis |
|
Kyphoscoliosis, Vertebral segmentation defect, Platyspondyly, Scoliosis, Anisospondyly |
ORPHA:85198 |
| Autosomal Recessive Robinow Syndrome |
|
Micrognathia, Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5t... |
ORPHA:1507 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
| Cartilage-Hair Hypoplasia |
|
Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia of the odontoid process, Prominent st... |
OMIM:250250 |
| Double Outlet Right Ventricle |
|
Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypoplastic left ... |
ORPHA:3426 |
| Fetal Valproate Spectrum Disorder |
|
Omphalocele |
ORPHA:1906 |
| Bruck Syndrome 2 |
|
Inguinal hernia, Flexion contracture, Elbow flexion contracture, Pectus carinatum, Knee flexion c... |
OMIM:609220 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor... |
ORPHA:90301 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Short neck, Hemivertebrae, Transposition of the great arteries, Cerv... |
ORPHA:1780 |
| Kuskokwim Syndrome |
|
Abnormal clavicle morphology, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:1149 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Intraventricular hemorrhage, Sacral dimple, Aganglionic megacolon |
OMIM:613603 |
| Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Omphalocele, Inguinal hernia, Diastasis recti, Pectus excavatum, Large placenta, Flexion contract... |
ORPHA:254528 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Multiple small vertebral fractures, Osteoporosis of vertebrae, Platyspondyly |
OMIM:156510 |
| Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Kyphosis, Platyspondyly, Scoliosis |
OMIM:113500 |
| Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea |
OMIM:184700 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Cupped ribs, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaki... |
OMIM:609616 |
| Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ... |
ORPHA:101030 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Absent rad... |
OMIM:171480 |
| Vacterl/Vater Association |
|
Omphalocele, Occipital encephalocele, Abnormal intervertebral disk morphology, Congenital diaphra... |
ORPHA:887 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... |
OMIM:300869 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Myocardial infarction, Micrognathia, Short neck, Reduced bone mineral density, Enlarg... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Osteopenia, Myocardial infarction, Micrognathia, Short neck, Reduced bone mineral density, Enlarg... |
ORPHA:99228 |
| Monosomy X |
|
Osteopenia, Myocardial infarction, Micrognathia, Short neck, Reduced bone mineral density, Enlarg... |
ORPHA:99226 |
| Turner Syndrome |
|
Osteopenia, Myocardial infarction, Micrognathia, Short neck, Reduced bone mineral density, Enlarg... |
ORPHA:881 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cyanosis, Cardiac arrest, Hypoxemia, Bradycardia, Hypotension, Pulmonary edema |
ORPHA:70587 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... |
OMIM:610017 |
| Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
| Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Coronal clef... |
OMIM:256050 |
| Donnai-Barrow Syndrome |
|
Omphalocele, Wide anterior fontanel, Umbilical hernia, Congenital diaphragmatic hernia |
ORPHA:2143 |
| Aldh18A1-Related De Barsy Syndrome |
|
Joint hyperflexibility, Hyperextensible skin |
ORPHA:35664 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
| Achondrogenesis Type 1B |
|
Femoral hernia, Short neck, Short thorax, Abnormal rib morphology, Narrow chest, Umbilical hernia |
ORPHA:93298 |
| Cornelia De Lange Syndrome 1 |
|
Pneumonia, Micromelia, Proximal placement of thumb, Micrognathia, Short neck, Delayed skeletal ma... |
OMIM:122470 |
| Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Diastasis recti, Kyphoscoliosis, Short neck, Large placenta, Bell-s... |
ORPHA:254519 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo... |
ORPHA:536467 |
| Rahman Syndrome |
|
Redundant skin, Kyphoscoliosis, Accelerated skeletal maturation, Talipes equinovarus, Camptodacty... |
OMIM:617537 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
| Alg8-Cdg |
|
Small for gestational age, Cutis laxa, Talipes equinovarus, Camptodactyly, Premature skin wrinkli... |
ORPHA:79325 |
| Achondrogenesis, Type Ib |
|
Inguinal hernia, Narrow chest, Short ribs, Absent or minimally ossified vertebral bodies, Umbilic... |
OMIM:600972 |
| Niemann-Pick Disease, Type C2 |
|
Neurofibrillary tangles |
OMIM:607625 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Failure to thrive, Prominent metopic ridge, Small for gestational age, Joint hy... |
OMIM:610443 |
| Adult-Onset Dystonia-Parkinsonism |
|
Neurofibrillary tangles, Frontotemporal cerebral atrophy, Generalized cerebral atrophy/hypoplasia |
ORPHA:199351 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... |
ORPHA:3304 |
| Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Micrognathi... |
ORPHA:263508 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
| Early-Onset Lafora Body Disease |
|
Lafora bodies |
ORPHA:324290 |
| 8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
| Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
| Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert... |
OMIM:244600 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Sacral dimple, Spina bifida, Hyperlordosis, Pectus excavatum, Intraventricular hemorrhage, Kyphos... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Sacral dimple, Spina bifida, Hyperlordosis, Pectus excavatum, Intraventricular hemorrhage, Kyphos... |
ORPHA:363958 |
| Pulmonary Arteriovenous Malformation |
|
Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Clubbing, Heart murmur, Te... |
ORPHA:2038 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Hemivertebrae, Emphysema, Lumbar hyperlordosis, Arachnodactyly, Sagitta... |
ORPHA:500150 |
| Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
| Aspergillosis |
|
Osteomyelitis, Pneumonia, Eosinophilia, Hypersensitivity pneumonitis, Abnormal rib morphology, Br... |
ORPHA:1163 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Congenital hip dislocation, Redundant skin, Joint hypermobility, Wide anterior fontanel, Cutis la... |
OMIM:219200 |
| Achondroplasia |
|
Lumbar hyperlordosis, Lumbar kyphosis in infancy, Short ribs, Spinal stenosis with reduced interp... |
OMIM:100800 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Coronary artery calcification, Cardiomegaly, Carotid artery calcification, Dilated cardiomyopathy... |
OMIM:208000 |
| Waisman Syndrome |
|
Lewy bodies, Megalencephaly |
OMIM:311510 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hypotension, Brui... |
ORPHA:99828 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Alexander Disease Type I |
|
Focal T2 hyperintense basal ganglia lesion, Abnormal cerebral white matter morphology, Rosenthal ... |
ORPHA:363717 |
| Pontine Tegmental Cap Dysplasia |
|
Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis, Failure to thrive |
OMIM:614688 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Agenesis of corp... |
OMIM:218600 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Cerebral palsy, Subarachnoid hemorrhage, Cephaloh... |
ORPHA:853 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation, Talipes equinovarus |
OMIM:619972 |
| Bohring-Opitz Syndrome |
|
Joint dislocation, Syndactyly, Sacral dimple, Prominent metopic ridge, Overlapping toe, Ulnar dev... |
OMIM:605039 |
| Cutis Laxa-Marfanoid Syndrome |
|
Arachnodactyly, Redundant skin, Flexion contracture, Limitation of joint mobility, Hip dislocatio... |
ORPHA:171719 |
| Mucopolysaccharidosis, Type Iiia |
|
Inguinal hernia, Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis, Umbilical hernia |
OMIM:252900 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Wide-cupped costochondral junctions, Platyspondyly, Narrow ches... |
OMIM:187601 |
| Triploidy |
|
Omphalocele, Hydrocephalus, Meningocele, Abnormality of the fontanelles or cranial sutures, Holop... |
ORPHA:3376 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Death in infancy, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral re... |
OMIM:620300 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
| Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Failure to thrive, Portal hypertension, Osteoporosis, Cerebral atrophy, Weight loss... |
OMIM:619487 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
| Symmetrical Thalamic Calcifications |
|
Arrhythmia, Abnormality of neuronal migration |
ORPHA:1314 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Platyspondyly |
OMIM:271600 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... |
ORPHA:163971 |
| Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
| Neural Tube Defects, Susceptibility To |
|
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Myelomeningocele, Anencep... |
OMIM:182940 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Platyspondyly, Posterior rib cupp... |
OMIM:608728 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Thin ribs... |
OMIM:300863 |
| Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy, Coronary artery atherosclerosis |
OMIM:616833 |
| Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Coarctation of aorta, Anterior hypopituitarism, Abnormal vertebral morph... |
ORPHA:280195 |
| Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Paroxysmal atrial fibrillation, First degree atrioventricular block... |
ORPHA:392 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Abnormal bleeding, Microretrognathia, Ventriculomegaly, Recurrent joint dislocation, Redundant sk... |
ORPHA:2953 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Ventriculomegaly, Trident pelvis, Bowed humerus, Flexion contracture, Lateral vent... |
OMIM:619479 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Diffuse cerebral atrophy, Micrognathia, Flexion contracture, Knee flexion contracture, Death in c... |
OMIM:214150 |
| Kbg Syndrome |
|
Syndactyly, Vertebral fusion, Short neck, Delayed skeletal maturation, Rib fusion, Vertebral arch... |
OMIM:148050 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Reduced bone minera... |
ORPHA:2911 |
| Maternal Hyperthermia-Induced Birth Defects |
|
Intrauterine growth retardation, Abnormality of neuronal migration |
ORPHA:2216 |
| Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... |
ORPHA:99106 |
| Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Ab... |
ORPHA:99642 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Thoracic scoliosis, Redundant skin, Equinus calcaneus, Micrognathi... |
ORPHA:536532 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| Glut1 Deficiency Syndrome 1 |
|
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity |
OMIM:606777 |
| Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy... |
OMIM:150250 |
| Lymphatic Malformation 9 |
|
Predominantly lower limb lymphedema |
OMIM:619319 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Pectus excavatum, Kyphosis, Hip dislocation, Joint hyperflexibi... |
ORPHA:96169 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... |
ORPHA:71277 |
| Schisis Association |
|
Encephalocele, Omphalocele, Congenital diaphragmatic hernia, Spina bifida, Anencephaly |
ORPHA:63862 |
| Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Hypoplastic aort... |
OMIM:157800 |
| Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Abnormal lung morphology, Abnormal femur morphology, Abnormal form of the ve... |
ORPHA:464329 |
| Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Bowed forearm bones, Ventriculomegaly, Absent thumb, Absent radius, Hydrocephalus, Lateral ventri... |
OMIM:602200 |
| Caudal Regression Syndrome |
|
Missing ribs, Joint stiffness, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, ... |
ORPHA:3027 |
| Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... |
ORPHA:774 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Redundant skin, Abnormal finger morphology, Symphalangism affecting the phalanges of the hand, Sh... |
ORPHA:2658 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Overweight, Atrophy of the spinal cord, Obesity, Lateral ventricle dilat... |
ORPHA:2822 |
| Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
| Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
| Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
| Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Micrognathia, Abnormal cortical bone morphology, Abn... |
ORPHA:2097 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... |
ORPHA:91354 |
| Hemimegalencephaly |
|
Gray matter heterotopia, Pachygyria, Polymicrogyria, Abnormal neuron morphology |
ORPHA:99802 |
| Carpenter Syndrome 1 |
|
Omphalocele, Short stature, Sagittal craniosynostosis, Lateral displacement of patellae, Patent d... |
OMIM:201000 |
| Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Thoracic scoliosis, Short neck, Narrow chest, Broad ribs |
OMIM:617022 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Lateral ventricle dilatation, Shortening of all distal phalanges of the fingers |
OMIM:615716 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Atrial septal defect, Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus... |
OMIM:618316 |
| Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Decreased nerve conduction velocity, Subdural hemorrhage, Retinal hemorrhage, T... |
OMIM:615368 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Arachnodactyly, Hip dislocation, Cutis laxa |
OMIM:614100 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Spinal canal stenosis, Fused ce... |
ORPHA:1724 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage |
OMIM:263300 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Short neck, Wide anterior fontanel, Flexion contrac... |
OMIM:263210 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Dysplastic corpus callosum, Genu valgum, Lateral ventricle dilatati... |
ORPHA:488627 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Micrognathia, Subependymal cysts, Cardiomyopathy, Lateral ventricle dilatation |
OMIM:600721 |
| Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Mitral regurgitation, Scoliosis, Cutis laxa |
OMIM:614434 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Ty... |
OMIM:615191 |
| Occipital Horn Syndrome |
|
Persistent open anterior fontanelle, Redundant skin, Pectus carinatum, Hyperextensible skin, Narr... |
OMIM:304150 |
| Takayasu Arteritis |
|
Abnormal endocardium morphology, Abnormal heart valve morphology, Vasculitis, Arterial stenosis, ... |
ORPHA:3287 |
| Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries |
ORPHA:1643 |
| Supranuclear Palsy, Progressive, 2 |
|
Neurofibrillary tangles, Neuronal loss in basal ganglia, Granulovacuolar degeneration |
OMIM:609454 |
| Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pericardial ef... |
ORPHA:199241 |
| Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu... |
OMIM:187600 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Aortic regurgitation, Tortuous cerebral arteries, Osteopenia, Os odontoideum, Joint laxity, Adduc... |
OMIM:616603 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Congestive heart failure, Redundant skin |
OMIM:301021 |
| Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C... |
OMIM:264180 |
| Coffin-Siris Syndrome 1 |
|
Partial agenesis of the corpus callosum, Prominent interphalangeal joints, Clinodactyly of the 5t... |
OMIM:135900 |
| Joint Laxity, Short Stature, And Myopia |
|
Inguinal hernia, Cervical kyphosis, Kyphoscoliosis, Pectus carinatum, Umbilical hernia |
OMIM:617662 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect |
OMIM:253300 |
| Progeroid Syndrome, Petty Type |
|
Redundant skin, Wide anterior fontanel, Cutis laxa, Decreased skull ossification, Umbilical herni... |
ORPHA:2963 |
| Potocki-Shaffer syndrome |
|
Delayed cranial suture closure |
DECIPHER:34 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Redundant skin, Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow gr... |
OMIM:250220 |
| Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... |
ORPHA:464321 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Death in infancy, Thoracic scoliosis, Cerebral hemorrhage, Subdural hemorrhage, Chylothorax, Deat... |
OMIM:620278 |
| Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation, Dilation of Virchow-Robin spaces, Flexion contracture, Scoliosis |
ORPHA:2148 |
| Butyrylcholinesterase Deficiency |
|
Congestive heart failure, Myocardial infarction, Paralysis |
ORPHA:132 |
| Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension |
OMIM:263400 |
| Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
| Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy |
ORPHA:100006 |
| White Forelock With Malformations |
|
Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology |
ORPHA:2475 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ovale, Abnorma... |
ORPHA:477817 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Spinal dysraphism, Irregular vertebral endplates, Posterior scalloping of vertebral bodies, Scoli... |
OMIM:603546 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... |
OMIM:272460 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Micrognathia, Short neck, Short metatarsal, Narrow chest, Clinodactyly of the 5th fin... |
OMIM:266920 |
| 49,Xxxyy Syndrome |
|
Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... |
ORPHA:261534 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation |
OMIM:618890 |
| Lymphedema And Cerebral Arteriovenous Anomaly |
|
Lymphedema |
OMIM:152900 |
| Mucopolysaccharidosis Type 4 |
|
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Grayish enamel, Short tho... |
ORPHA:582 |
| Mucopolysaccharidosis, Type X |
|
Spatulate ribs, Hyperlordosis, Broad clavicles, Platyspondyly, Posterior scalloping of vertebral ... |
OMIM:619698 |
| Supranuclear Palsy, Progressive, 1 |
|
Neurofibrillary tangles, Neuronal loss in basal ganglia, Cerebral atrophy, Granulovacuolar degene... |
OMIM:601104 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Ovoid vertebral bodies, Cupped ribs, Platyspondyly, Scoliosis, Severe platyspondyly |
OMIM:608940 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... |
ORPHA:99103 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
| Immunodeficiency 49 |
|
Eosinophilia, Micrognathia, Pulmonary artery stenosis, Cutis laxa, Wormian bones, Umbilical herni... |
OMIM:617237 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Omphalocele, Meningocele, Anencephaly, Intrauterine growth retardation |
OMIM:603194 |
| Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Myelomeningocele, Hy... |
ORPHA:2876 |
| Hall-Riggs Syndrome |
|
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Enamel hypoplasia |
OMIM:234250 |
| Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Joint dislocation, Prominent superficial veins, Hyperextensible skin, Gingival bleeding, Scoliosi... |
OMIM:617174 |
| Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:208447 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Inguinal hernia, Hyperlordosis, Short neck, Short thorax, Abnormal form of the vertebral bodies, ... |
ORPHA:3218 |
| Osteogenesis Imperfecta, Type V |
|
Platyspondyly, Biconcave vertebral bodies, Dentinogenesis imperfecta, Vertebral wedging |
OMIM:610967 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Redundant neck skin, Small for gestational age, Patent ductus arteriosus, Mild fetal ventriculome... |
OMIM:610498 |
| Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Short metacarpal, Ulnar deviation of the hand, Congenital hip dislocation, Elbow... |
OMIM:617137 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
| Myotonic Dystrophy 2 |
|
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... |
OMIM:602668 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... |
ORPHA:91387 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Beaded ribs, Micrognathia, Short neck, Multiple prenatal fractures, Flexion contractu... |
OMIM:616897 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Redundant neck skin, Congenital hip dislocation, Redundant skin, Delayed closure of the anterior ... |
ORPHA:357074 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Broad femoral neck, Tapered finger, Flat capital femoral epiphysis, Flexion contractu... |
ORPHA:157965 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Joint laxity, Recurrent respiratory infections, Arachnodactyly, Redundant skin, Pectus excavatum,... |
OMIM:219100 |
| Arnold-Chiari Malformation Type I |
|
Stiff neck, Myelopathy, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Ant... |
ORPHA:268882 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... |
OMIM:300888 |
| Buerger Disease |
|
Vasculitis, Acrocyanosis |
ORPHA:36258 |
| Prader-Willi Syndrome Due To Translocation |
|
Recurrent respiratory infections, Overlapping toe, Decreased response to growth hormone stimulati... |
ORPHA:177907 |
| Isolated Anencephaly |
|
Omphalocele, Intrauterine growth retardation, Congenital diaphragmatic hernia |
ORPHA:563609 |
| Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Increased number of skin folds, Redundant skin, Cutis laxa |
ORPHA:436274 |
| 1P36 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Agenesis of corpus callosum, Patent ductus arteriosus, Dilated ca... |
ORPHA:1606 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lateral ventricle dilatation, Pontocerebellar atrophy |
OMIM:617854 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Short stature, Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplified g... |
OMIM:616171 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent duc... |
OMIM:270100 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Redundant skin, Delayed closure of the anterior fontanelle, Micrognathi... |
OMIM:225410 |
| Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... |
OMIM:134780 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Joint dislocation, Redundant skin, Avascular necrosis of the capital femoral epiphysis, Delayed s... |
ORPHA:502 |
| Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Small for gestational age, Kyphoscoliosis, M... |
ORPHA:97360 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Wide anterior fontanel, Lateral ventricle dilatation, Scoliosis, Cont... |
ORPHA:457279 |
| Cardiofaciocutaneous Syndrome |
|
Failure to thrive in infancy, Redundant skin, Abnormal morphology of ulna, Short neck, Pectus exc... |
ORPHA:1340 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... |
OMIM:617405 |
| Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... |
OMIM:253010 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Postural tremor, Abnormal spinal cord morphology, Babinski sign, Vocal cord paralysis, Hand tremo... |
ORPHA:99947 |
| Bainbridge-Ropers Syndrome |
|
Death in infancy, Ulnar deviation of the hand, Arachnodactyly, Micrognathia, Contracture of the p... |
OMIM:615485 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... |
OMIM:151210 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs, Abnormal rib morphology, ... |
ORPHA:1488 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Joint hypermobility, Overweight, Dilated third ventricle, Hydro... |
OMIM:619575 |
| Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Abnormal bleeding, Redundant skin, Cutis laxa, Dilatation of the cerebral artery, Atherosclerosis |
ORPHA:91135 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Hydrocephalus, Flexion contracture, Lateral ventricle dilatation, Dilated third... |
OMIM:613154 |
| Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy |
ORPHA:100008 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Prolonged QRS complex, Left axis deviation, Pericardial effusion, Congestive heart fail... |
OMIM:261740 |
| Pentalogy Of Cantrell |
|
Encephalocele, Omphalocele, Congenital diaphragmatic hernia, Anencephaly, Abnormal sternum morpho... |
ORPHA:1335 |
| Mirage Syndrome |
|
Rocker bottom foot, Radial club hand, Hydrocephalus, Patent ductus arteriosus, Intracranial hemor... |
OMIM:617053 |
| Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
| Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Abnormal lateral ventricle morphology, Decreased response to growth hormon... |
ORPHA:1855 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ... |
ORPHA:239 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation, Broad hallux |
OMIM:614105 |
| Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Spatulate ribs, Metaphyseal widening, Delayed epiphyseal ... |
OMIM:177170 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Abnormal lung lobation, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Wide anterio... |
OMIM:607872 |
| Fetal Gaucher Disease |
|
Intracranial hemorrhage, Death in infancy, Stillbirth, Neonatal death |
ORPHA:85212 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Arthropathy, Long clavicles, Redundant skin, Pectus excavatum, Patent ductus arterios... |
OMIM:259100 |
| Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Micrognathia, Short neck, Humeroradial synostosis, Abnormal rib ... |
ORPHA:3404 |
| Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Meningocele, Abnormality of neuronal migration |
ORPHA:2481 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Platyspondyly |
OMIM:184840 |
| Achondrogenesis Type 1A |
|
Multiple rib fractures, Femoral hernia, Short neck, Short thorax, Narrow chest, Umbilical hernia |
ORPHA:93299 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Congenital kyphoscoliosis, Kyphoscoliosis, Cerebral hemorrhage, Pectus excavatum, Atlantoaxial in... |
ORPHA:536545 |
| Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
| Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Short neck, Wide anterior fontanel, Hypoplastic vertebral bodies, Coronal c... |
ORPHA:2347 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnorma... |
ORPHA:2916 |
| Autosomal Recessive Primary Microcephaly |
|
Short stature, Growth delay, Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum |
ORPHA:2512 |
| Mosaic Trisomy 14 |
|
Camptodactyly of finger, Micrognathia, Short neck, Abnormal rib morphology, Narrow chest, Failure... |
ORPHA:1703 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph... |
OMIM:122860 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Inguinal hernia, Pectus excavatum, Kyphosis, Wide anterior fontanel, Umbilical hernia |
OMIM:618272 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Overweight, Dilated third ventricle, Hydrocephalus, Flexion contracture, Small hand, Kyphosis, Sh... |
ORPHA:500055 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Diffuse cerebral atrophy, Long clavicles, Overlapping toe, Arachnodactyly, Micrognathia, Contract... |
ORPHA:83617 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Tricuspid regurgitation, Sandal gap, Patent ductus arteriosus, Hydr... |
OMIM:612863 |
| Myasthenic Syndrome, Congenital, 16 |
|
Periodic paralysis, Hyperlordosis |
OMIM:614198 |
| Spinal Arteriovenous Metameric Syndrome |
|
Kyphoscoliosis, Paraparesis, Abnormal spinal cord morphology, Congestive heart failure, Spinal ar... |
ORPHA:53721 |
| Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
| Pallister-Hall Syndrome |
|
Large for gestational age, Gonadotropin deficiency, Hemivertebrae, Abnormal lung lobation, Holopr... |
ORPHA:672 |
| Smith-Mccort Dysplasia 1 |
|
Barrel-shaped chest, Hypoplastic scapulae, Short neck, Hypoplasia of the odontoid process, Kyphos... |
OMIM:607326 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
| 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 |
| Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L... |
OMIM:620067 |
| Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Pectus excavatum, Bell-shaped thorax, Platyspondyly, Scoliosis |
OMIM:619131 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
| Acromesomelic Dysplasia 1 |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Thoracolu... |
OMIM:602875 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Elbow flexion contracture, Pectus... |
OMIM:184252 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Platyspondyly, Dentinogenesis imperfecta |
ORPHA:71267 |
| Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Pineal cyst, Short 4th toe, Clinodactyly o... |
OMIM:615873 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck |
ORPHA:1486 |
| Hao-Fountain Syndrome |
|
Large fontanelles, Delayed cranial suture closure |
OMIM:616863 |
| Simpson-Golabi-Behmel Syndrome |
|
Bundle branch block, Congenital hip dislocation, Short neck, Accelerated skeletal maturation, Ver... |
ORPHA:373 |
| Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... |
ORPHA:99147 |
| Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... |
ORPHA:2319 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Sclerotic vertebral body, Kyphosis, Hydrocephalus, Metaphyseal widening, Cranio... |
OMIM:618476 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal joint contracture of fin... |
ORPHA:1145 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia,... |
ORPHA:163966 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Redundant neck skin, Short neck, 2-3 toe syndactyly, Cutaneous syndactyly, Sti... |
OMIM:236500 |
| Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
| Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Obesity, Cerebral atrophy, Lateral ventricle dilatation,... |
OMIM:617296 |
| Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Bowing of the long bones, Crumpled long bones, Recurrent fractures, ... |
ORPHA:2050 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Delayed skeletal maturation, Abnormal rib morphology, Abnormal ... |
ORPHA:2643 |
| Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Lateral ventricle dilatation |
OMIM:608629 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva... |
ORPHA:2772 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Vocal cord paralysis |
OMIM:607641 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Lateral ventricle dilatation, Small for gestational age, Cerebral atrophy, Death in childhood |
OMIM:619847 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Metaphyseal widening, Pectus ca... |
OMIM:182212 |
| High Altitude Pulmonary Edema |
|
Hypoxemia, Tachycardia, Cyanosis, Pulmonary edema |
ORPHA:330012 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Cerebellar atrophy, Death in infancy, Hydrocephalus, Cerebral atrophy, Colpocephaly, Death in chi... |
OMIM:616034 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Death in infancy, Hip contracture, Large for gestational age, Micrognathia, Short neck, Patent du... |
OMIM:300868 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, A... |
OMIM:607155 |
| Congenital Fibrinogen Deficiency |
|
Tachycardia, Cyanosis, Opisthotonus, Clubbing of fingers, Bruising susceptibility, Internal hemor... |
ORPHA:335 |
| Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
| Emanuel Syndrome |
|
Recurrent respiratory infections, Ventriculomegaly, Redundant neck skin, Truncus arteriosus, Cong... |
ORPHA:96170 |
| Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
| Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebral hemorrhage, Death in infancy |
OMIM:618886 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Joint laxity, Tricuspid regurgitation, Joint stiffness, Congestive heart fa... |
OMIM:314400 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis |
OMIM:105500 |
| Prolactinoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... |
ORPHA:2965 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal... |
OMIM:616276 |
| Osteogenesis Imperfecta, Type Ii |
|
Beaded ribs, Thin ribs, Bell-shaped thorax, Platyspondyly, Thoracic hypoplasia |
OMIM:166210 |
| Acquired Methemoglobinemia |
|
Tachycardia, Cyanosis, Hypoxemia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
| Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mine... |
OMIM:215140 |
| Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Osteopenia, Micrognathia, Abnormal form of the vertebral bodies, Pec... |
ORPHA:2462 |
| Trisomy 1Q |
|
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Hydrocephalus, Patent duct... |
ORPHA:261344 |
| Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Omphalocele, Encephalocele, Hemivertebrae |
OMIM:264480 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Elbow flexion contracture, Abnormality of neuronal migration, Knee flexio... |
OMIM:608836 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Lumbar hyperlordosis, Kyphoscoliosis, Platyspondyly, Thoracic kyphosis, Biconcave vertebral bodie... |
OMIM:271510 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Coxa valga, Micrognathia, Hydrocephalus, Hammertoe, Colpocephaly, Hip dysplasia, Distal arthrogry... |
OMIM:619833 |
| Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot |
ORPHA:217 |
| Hypophosphatasia |
|
Bowing of the long bones, Failure to thrive in infancy, Recurrent fractures, Craniosynostosis, Em... |
ORPHA:436 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Vertebral wedging,... |
ORPHA:1159 |
| Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Craniosynostosis, Hydrocephalus, Metopic synostosis, Camptodactyly of toe, Umbil... |
OMIM:175700 |
| Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Pectus carinatu... |
OMIM:253220 |
| Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Inguinal hernia, Abnormality of the abdominal wall, Gray matter heterotopia, Joint c... |
OMIM:247200 |
| Pituitary Gigantism |
|
Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Increased circulati... |
ORPHA:99725 |
| Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
| Gabriele-De Vries Syndrome |
|
Hallux valgus, Sandal gap, Aortopulmonary collateral arteries, Micrognathia, Long fingers, Latera... |
OMIM:617557 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
| Fountain Syndrome |
|
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Craniofacial hyperost... |
ORPHA:3219 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Missing ribs |
ORPHA:2759 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Tapered finger, Long fingers, Atrioventricular block, Bradycardia, Joint contracture of the 5th f... |
OMIM:614407 |
| Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Abnormal dental enamel morphology, Spina bifida, Congenital diaphra... |
ORPHA:2092 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... |
ORPHA:2232 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Micrognathia, Missing ribs, Hydrocephalus, Abnormal rib morphology... |
ORPHA:3301 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Dysplastic corpus callosum, Flexion contracture, Thin ribs, Decreased body we... |
OMIM:614833 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Paralysis |
OMIM:608634 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Heart block, Metaphyseal chondrodysplasia, Accelerated skeletal maturatio... |
ORPHA:175 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Broad clavicles, Abnormal form of the vertebral bodies |
ORPHA:371428 |
| Neonatal Marfan Syndrome |
|
Long toe, Tricuspid regurgitation, Small for gestational age, Arachnodactyly, Micrognathia, Long ... |
ORPHA:284979 |
| Solar Urticaria |
|
Edema, Periorbital edema, Angioedema, Urticaria, Dermatographic urticaria, Syncope |
ORPHA:97230 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Platyspondyly, Pear-shaped vertebrae, Flared, irregular rib ends, Irregular sclerotic endplates |
OMIM:602111 |
| Laryngeal Abductor Paralysis |
|
Cyanosis, Talipes equinovarus |
OMIM:150260 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Intraventricular hemorrhage, Telangiectasia |
ORPHA:420741 |
| Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia, Redundant skin |
OMIM:615721 |
| Superficial Siderosis |
|
Back pain, Abnormal bleeding, Ataxia, Subarachnoid hemorrhage, Atrophy of the spinal cord, Abnorm... |
ORPHA:247245 |
| Cranioectodermal Dysplasia 3 |
|
Joint laxity, Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, Sa... |
OMIM:614099 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus, Scarring |
ORPHA:398189 |
| Parkes Weber Syndrome |
|
Back pain, Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformati... |
ORPHA:90307 |
| Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Prolonged bleeding time, Bowing of the long bones, Sma... |
OMIM:616229 |
| Autosomal Dominant Cutis Laxa |
|
Osteopenia, Redundant neck skin, Genu recurvatum, Redundant skin, Abnormal curvature of the verte... |
ORPHA:90348 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
| Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
| 3M Syndrome |
|
Congenital hip dislocation, Abnormal cerebral vascular morphology, Micromelia, Short neck, Increa... |
ORPHA:2616 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Cranial nerve compression, Palpitations, Positive ... |
ORPHA:276621 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
| Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Abnormal atrial arrangement, Situs inversus totalis, Anomalous pulmonary ... |
ORPHA:244 |
| Osteogenesis Imperfecta, Type Xviii |
|
Umbilical hernia, Vertebral compression fracture, Biconcave vertebral bodies, Thin ribs |
OMIM:617952 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paralysis |
OMIM:158590 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
| Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Inguinal hernia, Hypoplastic scapulae, Short neck, Short thorax, Anencephaly, Thorac... |
OMIM:269860 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Inguinal hernia, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Short ... |
OMIM:255800 |
| 3Mc Syndrome 1 |
|
Omphalocele, Conjunctival telangiectasia, Diastasis recti, Postnatal growth retardation, Wide ant... |
OMIM:257920 |
| Menkes Disease |
|
Micrognathia, Venous insufficiency, Intracranial hemorrhage, Hyperextensible skin, Narrow chest, ... |
ORPHA:565 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
| Cantu Syndrome |
|
Ovoid vertebral bodies, Short neck, Lymphedema, Pericardial effusion, Patent ductus arteriosus, C... |
OMIM:239850 |
| Otopalatodigital Syndrome, Type I |
|
Omphalocele, Short stature, Delayed closure of the anterior fontanelle, Limited knee flexion, Cap... |
OMIM:311300 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Joint laxity, Prominent superficial veins, Short metacarpal, Camptodactyly of finger,... |
OMIM:612350 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Abnormal bleeding, Inguinal hernia, Persistent open anterior fontanelle, Congenital hip dislocati... |
ORPHA:357058 |
| Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormality of the pulmonary artery, Ventricular septal defect, Tetralogy of Fallot, Abnormal aor... |
ORPHA:1166 |
| Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
| Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage |
ORPHA:49566 |
| Cleidocranial Dysplasia |
|
Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger,... |
ORPHA:1452 |
| Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Short stature, Sagittal craniosynostosis, Aortic root aneurysm, Coronal craniosynost... |
OMIM:145420 |
| Chops Syndrome |
|
Patent ductus arteriosus, Obesity, Anomalous pulmonary venous return, Aspiration pneumonia, Trach... |
OMIM:616368 |
| Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
| Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Pachygyria, Partial agenesis of the corpus callosum, Simplified gyra... |
OMIM:616212 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han... |
OMIM:200600 |
| Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kypho... |
OMIM:616294 |
| Hereditary Methemoglobinemia |
|
Athetosis, Cyanosis, Limb dystonia |
ORPHA:621 |
| Chromosome 10Q26 Deletion Syndrome |
|
Omphalocele, Scapular winging, Lumbar hyperlordosis, Short neck, Pectus excavatum |
OMIM:609625 |
| Mucolipidosis Ii Alpha/Beta |
|
Inguinal hernia, Hypoplastic scapulae, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Dias... |
OMIM:252500 |
| Dyggve-Melchior-Clausen Disease |
|
Barrel-shaped chest, Lumbar hyperlordosis, Hypoplastic scapulae, Flaring of lower rib cage, Short... |
OMIM:223800 |
| Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Inguinal hernia, Kyphosis, Wide anterior fontanel, Thin ribs, Platyspondyly,... |
OMIM:610915 |
| Odontochondrodysplasia |
|
Platyspondyly, Dentinogenesis imperfecta, Narrow chest, Scoliosis |
ORPHA:166272 |
| Iniencephaly |
|
Encephalocele, Omphalocele, Rhizomelia, Spina bifida, Congenital diaphragmatic hernia, Myelomenin... |
ORPHA:63259 |
| Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode |
OMIM:610992 |
| 46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Wide anterio... |
OMIM:259420 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Increased intervertebral sp... |
ORPHA:93314 |
| 47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Micrognathia, Cutis laxa |
OMIM:301045 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Short neck, Kyphosis, Abnormal rib morphology, Pectus carinatum, Hernia of the abdominal wall |
ORPHA:3082 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Osteopenia, Kyphoscoliosis, Arterial rupture, Hyperextensible skin, Bruising susceptibility, Join... |
ORPHA:300179 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... |
OMIM:271640 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Congenital diaphragmatic hernia |
OMIM:601163 |
| Osteogenesis Imperfecta, Type X |
|
Multiple rib fractures, Thoracic scoliosis, Inguinal hernia, Thin ribs, Platyspondyly, Narrow che... |
OMIM:613848 |
| Nemaline Myopathy 9 |
|
Ventricular septal defect |
OMIM:615731 |
| Gapo Syndrome |
|
Prominent scalp veins, Redundant skin, Delayed closure of the anterior fontanelle, Micrognathia, ... |
OMIM:230740 |
| Caribbean Parkinsonism |
|
Lewy bodies, Midline brain calcifications, Cerebral cortical atrophy, T2 hypointense basal ganglia |
ORPHA:97355 |
| Ogden Syndrome |
|
Redundant neck skin, Congenital hip dislocation, Redundant skin, Micrognathia, Short neck, Ventri... |
OMIM:300855 |
| 15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Lateral clavicle hook, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ribs |
OMIM:615633 |
| Variegate Porphyria |
|
Tachycardia, Paralysis |
OMIM:176200 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Pectu... |
OMIM:613458 |
| Dysmorphism-Cleft Palate-Loose Skin Syndrome |
|
Redundant skin, Micrognathia |
ORPHA:1779 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Recurrent sinopulmonary infections, Failure to thrive, Congenital hip dislocation, De... |
ORPHA:2834 |
| Prune Belly Syndrome |
|
Recurrent respiratory infections, Congenital hip dislocation, Pectus excavatum, Patent ductus art... |
ORPHA:2970 |
| Parkinson Disease, Late-Onset |
|
Lewy bodies, Substantia nigra gliosis |
OMIM:168600 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration |
ORPHA:438134 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Cervical platyspondyly, Colpocephaly, Scoliosis |
OMIM:618731 |
| Hellp Syndrome |
|
Back pain, Generalized edema, Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Pleur... |
ORPHA:244242 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresi... |
OMIM:612946 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Abnormally loud pulmonic component of the second heart sound, Cyanosis, Left... |
ORPHA:99104 |
| Costello Syndrome |
|
Failure to thrive in infancy, Redundant skin, Short neck, Delayed skeletal maturation, Lack of sk... |
ORPHA:3071 |
| Asbestos Intoxication |
|
Cyanosis, Edema, Right ventricular failure, Hypoxemia, Clubbing of fingers, Hepatojugular reflux,... |
ORPHA:2302 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly, Intrauterine grow... |
ORPHA:89844 |
| Primary Progressive Freezing Gait |
|
Lewy bodies, Cerebral cortical atrophy |
ORPHA:75567 |
| Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
| 3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
| Arterial Tortuosity Syndrome |
|
Redundant skin, Myocardial infarction, Coxa vara, Hyperextensible skin, Clinodactyly of the 5th f... |
ORPHA:3342 |
| Tetrasomy 5P |
|
Recurrent respiratory infections, Redundant neck skin, Overlapping toe, Short hallux, Micrognathi... |
ORPHA:3309 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Elastosis Perforans Serpiginosa |
|
Cutis laxa |
ORPHA:79148 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Death in infancy, Joint laxity, Sandal gap, Redundant skin, Micrognathia, Vascular di... |
OMIM:613177 |
| Pde4D Haploinsufficiency Syndrome |
|
Irregular vertebral endplates, Caudal interpedicular narrowing, Abnormal dental enamel morphology |
ORPHA:439822 |
| Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Prominent superficial veins, Flexion contracture, Hip dislocation, Osteoporosis, Elbo... |
OMIM:614438 |
| Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
| Alg12-Cdg |
|
Recurrent respiratory infections, Sandal gap, Redundant skin, Proximal placement of thumb, Microg... |
ORPHA:79324 |
| Glutaric Acidemia I |
|
Hydrocephalus, Failure to thrive, Lateral ventricle dilatation |
OMIM:231670 |
| Cloacal Exstrophy |
|
Omphalocele, Spina bifida, Myelomeningocele, Hemivertebrae, Bladder exstrophy, Cloacal exstrophy |
ORPHA:93929 |
| Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Aortic root aneurysm, Bicuspid aortic valve, Double outlet right ventr... |
OMIM:616652 |
| Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Delayed closure of the anterior fontan... |
OMIM:303600 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Micrognathia, Short neck, Hydrocephalus, Cerebral atrophy, Colpocephaly, Congenital contracture, ... |
OMIM:620156 |
| Autosomal Recessive Stickler Syndrome |
|
Irregular vertebral endplates, Platyspondyly |
ORPHA:250984 |
| Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Cyanosis, Left-to-right shunt, Right ventricular failure, Third heart ... |
ORPHA:1329 |
| Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Arachnodactyly, Recurrent fractures, Pulmonary embolism, Pectus exca... |
ORPHA:394 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Redundant neck skin, Hydrocephalus, Holoprosencephaly, Brain atrophy, Hydranencephaly, Dandy-Walk... |
OMIM:617967 |
| Recombinant 8 Syndrome |
|
Redundant skin, Camptodactyly of finger, Micrognathia, Pectus excavatum, Pulmonary artery stenosi... |
ORPHA:96167 |
| Hurler Syndrome |
|
Abnormal clavicle morphology, Death in infancy, Recurrent respiratory infections, Angina pectoris... |
ORPHA:93473 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Platyspondyly |
OMIM:601438 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Osteopenia, Joint laxity, Arachnodactyly, Coxa valga, Elbow dislocation, Metaphyseal widening, Ra... |
OMIM:620083 |
| Bruck Syndrome |
|
Kyphosis, Platyspondyly, Arthrogryposis multiplex congenita, Scoliosis |
ORPHA:2771 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the ... |
OMIM:183900 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
| Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, He... |
OMIM:224690 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Low back pain, Thoracic scoliosis, Thoracic platyspondyly, Abnormal lumbar spine morphology, Bico... |
ORPHA:166011 |
| Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
| Arthrochalasia Ehlers-Danlos Syndrome |
|
Joint dislocation, Micrognathia, Avascular necrosis of the capital femoral epiphysis, Coxa valga,... |
ORPHA:1899 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventriculomegaly, Redundant neck skin, Small for gestational age, Rocker bottom foot, Craniosynos... |
OMIM:301056 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Platyspondyly |
OMIM:619598 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplastic labia major... |
OMIM:618419 |
| Shprintzen Omphalocele Syndrome |
|
Omphalocele, Lumbar hyperlordosis, Kyphosis, Narrow chest, Scoliosis |
OMIM:182210 |
| Thoracoabdominal Syndrome |
|
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Hydrocephalus, Patent ductus arteri... |
OMIM:313850 |
| Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... |
ORPHA:3130 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bo... |
ORPHA:73230 |
| Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Short stature, Pachygyria, Achilles tendon contracture, Elbow flexion contracture, Abnormality of... |
OMIM:608840 |
| Cantú Syndrome |
|
Ovoid vertebral bodies, Short neck, Cuboid-shaped vertebral bodies, Platyspondyly, Umbilical hern... |
ORPHA:1517 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Porphyria, Acute Hepatic |
|
Respiratory paralysis, Paralysis |
OMIM:612740 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Redund... |
ORPHA:90349 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Omphalocele, Atrial flutter, Overriding aorta, Patent ductus arteriosus, Vascular ring |
OMIM:601927 |
| Leber Congenital Amaurosis |
|
Encephalocele, Abnormality of neuronal migration |
ORPHA:65 |
| Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Elevated circulating follicle stimulating hormone level, E... |
OMIM:617253 |
| 49,Xyyyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... |
ORPHA:99330 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebral atrophy, Cardiomyopathy, Lateral ventricle... |
ORPHA:572798 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Micrognathia, Abnormal lung lobation, Posterior rib fusion, Neonatal death, Pulmonary artery sten... |
OMIM:265380 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... |
OMIM:300232 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Platyspondyly, Thoracic kyphosis |
OMIM:619638 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Wormian bones, Decreased response to growth hormone stimulation test, Micrognathia, Cervical C2/C... |
ORPHA:444077 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
| Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... |
ORPHA:2209 |
| Developmental And Epileptic Encephalopathy 89 |
|
Omphalocele, Flexion contracture, Narrow chest, Scoliosis |
OMIM:619124 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Ovoid vertebral bodies, Short neck, Wide anterior fontanel, Platyspondyly, Thoracic kyphosis, Nar... |
ORPHA:163649 |
| Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Hernia, Beaking of vertebral bodies |
OMIM:252930 |
| Oeis Complex |
|
11 pairs of ribs, Absence of the sacrum, Omphalocele, Myelomeningocele, Sacral segmentation defec... |
OMIM:258040 |
| Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
| Idiopathic Camptocormia |
|
Abnormal cerebral white matter morphology, Abnormal basal ganglia morphology, Lewy bodies, Cerebr... |
ORPHA:1320 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Platyspondyly |
ORPHA:2619 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Ankle clonus, Cutis laxa |
OMIM:619691 |
| Osteopathia Striata With Cranial Sclerosis |
|
Omphalocele, Pectus excavatum, Straight clavicles, Joint contracture of the hand, Scoliosis, Camp... |
OMIM:300373 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
| 14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
| Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
| Opitz Gbbb Syndrome |
|
Omphalocele, Inguinal hernia, Prominent metopic ridge, Short stature, Craniosynostosis, Congenita... |
ORPHA:2745 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:600081 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Inguinal hernia, Scapular winging, Pectus excavatum, Supernumerary ribs, Six lumbar vertebrae |
OMIM:619122 |
| Grange Syndrome |
|
Coronary artery stenosis, Bicuspid aortic valve, Renal artery stenosis, Carotid artery stenosis |
OMIM:602531 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura... |
ORPHA:93317 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Joint laxity, Recurrent respiratory infections, Multiple joint contractures, Spinal rigidity, Pec... |
ORPHA:486815 |
| Ovarian Fibroma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
| Kniest Dysplasia |
|
Hip contracture, Inguinal hernia, Short neck, Pectus excavatum, Coronal cleft vertebrae, Platyspo... |
OMIM:156550 |
| Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Abnormal retinal artery morphology, Medial calcification ... |
ORPHA:51608 |
| Odontochondrodysplasia 1 |
|
Biconvex vertebral bodies, Pectus carinatum, Coronal cleft vertebrae, Platyspondyly, Narrow chest... |
OMIM:184260 |
| Joubert Syndrome 14 |
|
Encephalocele, Meningocele, Optic atrophy, Intracranial hemorrhage, Hypertension |
OMIM:614424 |
| Mosaic Trisomy 8 |
|
Camptodactyly of finger, Micrognathia, Short neck, Patellar aplasia, Abnormal rib morphology, Lim... |
ORPHA:96061 |
| Chromosome 9P Deletion Syndrome |
|
Omphalocele, Inguinal hernia, Scoliosis, Short neck |
OMIM:158170 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Micrognathia, Craniosynostosis, Split hand, Abnormal rib morpholog... |
ORPHA:2145 |
| Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Redundant skin, Joint hyperflexibility |
ORPHA:1252 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Spinal cord compression, Platyspondyly, Cervical instability, Abno... |
ORPHA:93346 |
| Renpenning Syndrome |
|
Cachexia, Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, ... |
ORPHA:3242 |
| X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation |
ORPHA:85290 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
| Medulloblastoma |
|
Back pain, Ataxia, Cerebellar hemorrhage, Spinal cord tumor, Dysmetria, Progressive cerebellar at... |
ORPHA:616 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Intrauterine growth retardation, Large fontanelles, Delayed cranial suture closure |
ORPHA:1832 |
| Trisomy 18 |
|
Omphalocele, Short stature, Camptodactyly of finger, Spina bifida, Congenital diaphragmatic herni... |
ORPHA:3380 |
| Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
| Vascular Hyalinosis |
|
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
| Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Osteopenia, Wide cranial sutures, Short femur, Metaphyseal spurs, Re... |
OMIM:618188 |
| Leri Pleonosteosis |
|
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Elbow dislocation, Abnormal finger mor... |
ORPHA:2900 |
| Halperin-Birk Syndrome |
|
Micrognathia, Flexion contracture, Hip dislocation, Colpocephaly, Talipes equinovarus, Death in c... |
OMIM:618651 |
| Fetal Trimethadione Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:1913 |
| Amyloidosis, Finnish Type |
|
Cardiomyopathy, Cutis laxa |
OMIM:105120 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,... |
OMIM:602196 |
| Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Barrel-shaped chest, Aortic regurgitation, Lumbar hyperlordosis, Tricuspid regurgitation, Mitral ... |
OMIM:143095 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... |
OMIM:612561 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
| Progressive Pseudorheumatoid Dysplasia |
|
Camptodactyly of finger, Kyphoscoliosis, Platyspondyly, Sclerotic vertebral endplates, Joint cont... |
OMIM:208230 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Aortic regurgitation, Joint laxity, Genu recurvatum, Pectus excavatum, Calcaneovalgus deformity, ... |
OMIM:225320 |
| Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:1388 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Barrel-shaped chest, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscolios... |
ORPHA:93284 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Ventriculomegaly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal... |
ORPHA:1647 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Su... |
OMIM:618164 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
| Cerebral Visual Impairment |
|
Hydrocephalus, Intracranial hemorrhage, Central nervous system degeneration, Ischemic stroke, Neu... |
ORPHA:447788 |
| Macrocephaly/Autism Syndrome |
|
Joint laxity, Dilation of Virchow-Robin spaces, Large for gestational age, Obesity, Cutis laxa |
OMIM:605309 |
| Fontaine Progeroid Syndrome |
|
Redundant skin, Micrognathia, Neonatal death, Recurrent aspiration pneumonia, Syndactyly, Death i... |
OMIM:612289 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Premature coronary artery atherosclerosis |
OMIM:610947 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wide anterior fontanel, Platyspondyly |
OMIM:601356 |
| Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... |
ORPHA:494424 |
| Granulomatous Slack Skin |
|
Erythema, Redundant skin, Cutis laxa |
ORPHA:33111 |
| Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
| Stickler Syndrome Type 1 |
|
Abnormal vertebral epiphysis morphology, Platyspondyly |
ORPHA:90653 |
| Cranioectodermal Dysplasia 2 |
|
Joint laxity, Syndactyly, Rhizomelia, Craniosynostosis, Micrognathia, Pectus excavatum, Short nec... |
OMIM:613610 |
| Pagod Syndrome |
|
Encephalocele, Omphalocele, Short stature, Spina bifida, Sudden cardiac death, Congenital diaphra... |
ORPHA:991 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Angina pectoris, Cachexia, Micrognathia, Pectus excavatum, Delayed skeletal maturation, Telangiec... |
ORPHA:109 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Hyperextensible skin |
OMIM:619764 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Cranial nerve compression, Palpitations, Positive ... |
ORPHA:29072 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
| Eosinophilic Fasciitis |
|
Muscular edema, Acrocyanosis, Edema |
ORPHA:3165 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Joint dislocation, Pallidal degeneration, Subdural hemorrhage, Retin... |
ORPHA:25 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Osteopenia, Cerebral arteriovenous malformation, Myocardial infarction, Micrognathia, Rib exostos... |
OMIM:150230 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Joint dislocation, Thoracic scoliosis, Distal joint laxity, Generalized joint laxity,... |
ORPHA:1900 |
| Li-Campeau Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619189 |
| Gm1-Gangliosidosis, Type I |
|
Inguinal hernia, Thickened ribs, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, B... |
OMIM:230500 |
| 1p36 microdeletion syndrome |
|
Delayed cranial suture closure |
DECIPHER:18 |
| Yellow Nail Syndrome |
|
Predominantly lower limb lymphedema, Lymphedema |
OMIM:153300 |
| Fibrinolytic Defect |
|
Spontaneous hematomas, Hyperextensible skin |
OMIM:134900 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Opisthotonus |
OMIM:250800 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
| Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Abnormality of the vertebral endplates, Platyspondyly, Ovoid vertebral bodies |
ORPHA:1856 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Short neck, Bell-shaped thorax, Hypertension, Short ribs, Narrow chest, Death i... |
OMIM:613320 |
| Keppen-Lubinsky Syndrome |
|
Micrognathia, Flexion contracture, Recurrent pneumonia, Lateral ventricle dilatation, Scoliosis, ... |
OMIM:614098 |
| Adenohypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95512 |
| Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Orbital encephalocele, Agenesis of corpus callosum |
OMIM:164180 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Cyanosis |
OMIM:610773 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta... |
ORPHA:3092 |
| Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:403 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
| Osteogenesis Imperfecta, Type Xiii |
|
Kyphoscoliosis, Pectus carinatum, Enlarged thorax, Platyspondyly, Scoliosis, Umbilical hernia, De... |
OMIM:614856 |
| Spinocerebellar Ataxia Type 26 |
|
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... |
ORPHA:101112 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Arachnodactyly, Arterial tortuosity, Pectus excavatum, Micrognathia, Emphysema, Pulmonary artery ... |
OMIM:614437 |
| Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ... |
ORPHA:750 |
| Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Micrognathia, Generalized joint laxity, Pectus c... |
OMIM:619472 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Neurodegeneration, Cerebral cortical atrophy, Cerebral atrophy |
OMIM:617672 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Vertebral fusion, Down-sloping shoulders, Pectus excavatum, Metatarsus adductus, Hype... |
OMIM:227330 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Paralysis |
OMIM:613710 |
| Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... |
OMIM:171300 |
| Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Sex reversal, Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess |
OMIM:613743 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Cerebral palsy, Epistaxis, Spastic paraplegia, Intracranial hemorrhage, Athetosis, Hypertension, ... |
ORPHA:369929 |
| Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility at elbow, Hyperext... |
OMIM:130000 |
| Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones |
ORPHA:2773 |
| Müllerian Aplasia And Hyperandrogenism |
|
Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina... |
ORPHA:247768 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis, Paralysis |
OMIM:300857 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Joint hypermobility, Precocious atherosclerosis, Joint hyperflexibil... |
ORPHA:230839 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Abnormal sacroiliac joint morphology, Redundant skin |
ORPHA:1807 |
| Acute Interstitial Pneumonia |
|
Cyanosis, Pericardial effusion, Hypoxemia, Hypertension, Peripheral edema, Pleural effusion |
ORPHA:79126 |
| Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Osteopenia, Thickened ribs, Short neck, Pectus carinatum, Cortical t... |
ORPHA:309282 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95513 |
| Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Hernia, Broad ribs |
ORPHA:583 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Vertebral segmentation defect, Missing ribs |
ORPHA:3186 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Small for gestational age |
OMIM:619278 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hypoplastic vertebral bodies, Narrow vertebral interpedicular distance, Spinal canal stenosis, Sc... |
OMIM:101800 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopathy, Right... |
ORPHA:2326 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Atelectasis, Agenesis of corpus callosum, Bronchiectasis |
OMIM:619466 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
| Capillary Malformation-Arteriovenous Malformation |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Nonimmune hydrops fetalis, Cerebral arteriov... |
ORPHA:137667 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Platyspondyly, Short neck |
OMIM:618958 |
| Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
| Glutathionuria |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:231950 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Pulmonary artery atre... |
ORPHA:401935 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility |
ORPHA:3226 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Micrognathia, Short neck, Hemivertebrae, Abnormal lung lobation, Pe... |
ORPHA:958 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Patent ductus arteriosus, Double outlet right ventricle |
OMIM:614886 |
| Elastoderma |
|
Premature skin wrinkling, Cutis laxa |
ORPHA:228240 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
| Bladder Exstrophy |
|
Omphalocele, Umbilical hernia, Inguinal hernia, Bladder exstrophy |
ORPHA:93930 |
| Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
| Pelviscapular Dysplasia |
|
Redundant neck skin, Short femur, Hypoplastic scapulae, Congenital hip dislocation, Short neck, H... |
ORPHA:93333 |
| Loeys-Dietz Syndrome 4 |
|
Joint laxity, Arachnodactyly, Protrusio acetabuli, Arterial tortuosity, Pneumothorax, Ascending t... |
OMIM:614816 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Sandal gap, Micromelia, Short neck, Delayed skeletal maturation, Cutis ... |
OMIM:614800 |
| Propionic Acidemia |
|
Cerebellar hemorrhage, Osteoporosis, Cerebral atrophy, Cardiomyopathy, Failure to thrive |
OMIM:606054 |
| Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Short neck, Coxa vara, Pectus carinatum, Sprengel anomaly, Wrist flexio... |
ORPHA:800 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
| Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Missing ribs, Vertebral wedging, Platyspondyly, Short ribs, Thoracic hypoplasia |
OMIM:617866 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... |
ORPHA:444013 |
| Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy, Agen... |
OMIM:207950 |
| Parkinsonian-Pyramidal Syndrome |
|
Lewy bodies, Substantia nigra gliosis |
ORPHA:171695 |
| Melnick-Needles Syndrome |
|
Omphalocele, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Pect... |
OMIM:309350 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Failure to thrive, Dry skin, Cutis laxa |
OMIM:612379 |
| Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Micrognathia, Osteoarthritis, Reduced bone mineral density, Intracranial h... |
ORPHA:740 |
| Gracile Bone Dysplasia |
|
Death in infancy, Hydrocephalus, Flared metaphysis, Thin ribs, Decreased skull ossification, Slen... |
OMIM:602361 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Gray matter heterotopia, Pachygyria |
ORPHA:370980 |
| Codas Syndrome |
|
Omphalocele, Hypoplasia of the odontoid process, Coronal cleft vertebrae, Lumbar scoliosis, Scoli... |
OMIM:600373 |
| Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Enlargement of the costochondra... |
OMIM:619636 |
| Czech Dysplasia |
|
Flexion contracture, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis, ... |
OMIM:609162 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:241530 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Lateral ventricle dilatation, Hi... |
OMIM:300952 |
| Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Coronary artery calcification, Kyphosis, Limited sh... |
OMIM:203500 |
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
Joint laxity, Joint dislocation, Joint hypermobility, Osteoarthritis, Hyperextensible skin, Soft ... |
OMIM:130020 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Redundant skin, Neonatal wrinkled skin of hands and feet,... |
OMIM:278250 |
| Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... |
OMIM:617168 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Joint dislocation, Genu recurvatum, Calcaneovalgus deformity, Absent phalangeal crease, Hypermobi... |
ORPHA:230851 |
| Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co... |
ORPHA:249 |
| Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta |
ORPHA:1923 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:618624 |
| Galloway-Mowat Syndrome |
|
Short stature, Camptodactyly of finger, Hiatus hernia, Aqueductal stenosis, Abnormality of neuron... |
ORPHA:2065 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Osteopenia, Tricuspid regurgitation, Kyphoscoliosis, Patent ductus arteriosus, Atlantoaxial insta... |
OMIM:614557 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Redundant skin, Kyphoscoliosis, Congestive heart failure, Pneumothorax, Hip dislocation, Cutis la... |
OMIM:617403 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib morphology |
ORPHA:276422 |
| Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
| X-Linked Acrogigantism |
|
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Elevated circulating growt... |
ORPHA:300373 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dilation of Virchow-Robin spaces, Short neck, Dysplastic corpus callosum, Colpocephaly, Agenesis ... |
OMIM:619955 |
| Lethal Congenital Contracture Syndrome 7 |
|
Paralysis |
OMIM:616286 |
| Monosomy 9Q22.3 |
|
Large for gestational age, Pectus excavatum, Short neck, Hydrocephalus, Accelerated skeletal matu... |
ORPHA:77301 |
| Periventricular Nodular Heterotopia |
|
Aortic regurgitation, Abnormal bleeding, Periventricular heterotopia, Patent ductus arteriosus, S... |
ORPHA:98892 |
| Hurler Syndrome |
|
Short neck, Metaphyseal widening, Flexion contracture, Hypoplasia of the femoral head, Hypoplasia... |
OMIM:607014 |
| Williams Syndrome |
|
Osteopenia, Redundant skin, Myocardial infarction, Abnormal cerebral vascular morphology, Microgn... |
ORPHA:904 |
| Farber Disease |
|
Abnormality of the knee, CNS foam cells, Nodular pattern on pulmonary HRCT, Atelectasis, Short to... |
ORPHA:333 |
| Epilepsy, Progressive Myoclonic, 10 |
|
Lafora bodies |
OMIM:616640 |
| Anauxetic Dysplasia 1 |
|
Barrel-shaped chest, Hip contracture, Lumbar hyperlordosis, Short neck, Elbow flexion contracture... |
OMIM:607095 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Death in infancy, Atelectasis, Thin ribs, Neonatal death, Joint hypermobility |
OMIM:300219 |
| Hydranencephaly |
|
Abnormality of fontanelles, Postnatal growth retardation, Abnormal internal carotid artery morpho... |
ORPHA:2177 |
| Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| Isovaleric Acidemia |
|
Cerebellar hemorrhage |
OMIM:243500 |
| Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage |
ORPHA:251274 |
| Down Syndrome |
|
Ventricular septal defect, Atrioventricular canal defect, Pulmonary artery stenosis, Patent ductu... |
OMIM:190685 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Lumbar hyperlordosis, Anterior rib cupping, Kyphoscoliosis |
OMIM:184253 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Omphalocele, Bell-shaped thorax, Short ribs, Narrow chest, Horizontal ribs |
OMIM:616300 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Neurodegeneration, Atrophy/Degeneration affecting the brainstem |
OMIM:612319 |
| Eisenmenger Syndrome |
|
Ventricular tachycardia, Pedal edema, Supraventricular tachycardia, Tricuspid regurgitation, Club... |
ORPHA:97214 |
| Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... |
OMIM:615363 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
| Parkinson Disease 1, Autosomal Dominant |
|
Lewy bodies |
OMIM:168601 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Barrel-shaped chest, Platyspondyly, Lumbar hyperlordosis, Short neck |
OMIM:612813 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Patent ductus arteriosus, Cervical kyphosis, Abnormality of the costochondral junction, Atlantoax... |
ORPHA:79345 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pu... |
ORPHA:99125 |
| Meacham Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct... |
OMIM:608978 |
| Smith-Mccort Dysplasia 2 |
|
Barrel-shaped chest, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Pectus carina... |
OMIM:615222 |
| Cardiac Valvular Dysplasia 1 |
|
Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val... |
OMIM:212093 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Decreased response to grow... |
OMIM:619503 |
| Colonic Atresia |
|
Omphalocele, Gastroschisis |
ORPHA:1198 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Inguinal hernia, Short stature, Congenital diaphragmatic hernia, Patent ductus arter... |
OMIM:618454 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
| Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Micrognathia, Short neck, Femoral bowing, Tibial bowing, Knee flexion contractur... |
OMIM:601559 |
| Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ... |
ORPHA:3097 |
| Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Coronary artery atherosclerosis, Renal artery stenosis, Cerebral artery atherosclerosis |
OMIM:209010 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
| Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Sacral dimple, Fetal intraventricular hemorrhage, Spasticity, Limb hypertonia |
OMIM:618480 |
| Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Short ne... |
ORPHA:233 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Eunuchoid habitus, Osteopenia, Arachnodactyly, Joint hypermobility, Pectus excavatum, Delayed ske... |
ORPHA:2463 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Tay-Sachs Disease |
|
Psychomotor deterioration, Exaggerated startle response, Dementia |
OMIM:272800 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of neuronal migration |
ORPHA:2204 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Clonus, Abnormal spinal cord morphology, Babinski sign, Spastic paraplegia, Spasticity, Progressi... |
ORPHA:139578 |
| Spondylo-Ocular Syndrome |
|
Platyspondyly, Abnormal intervertebral disk morphology, Thoracic kyphosis, Short neck |
ORPHA:85194 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Platyspondyly, Scoliosis |
OMIM:126550 |
| Occipital Horn Syndrome |
|
Osteopenia, Venous insufficiency, Coxa vara, Pectus carinatum, Humerus varus, Hyperextensible ski... |
ORPHA:198 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Interrup... |
OMIM:617478 |
| Kabuki Syndrome 1 |
|
Joint dislocation, Congenital hip dislocation, Micrognathia, Hydrocephalus, Coarctation of aorta,... |
OMIM:147920 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl... |
OMIM:613091 |
| Arachnoid Cyst |
|
Back pain, Subarachnoid hemorrhage, Spinal cord compression, Paraparesis, Spinal arachnoid cyst, ... |
ORPHA:2356 |
| Gapo Syndrome |
|
Abnormal clavicle morphology, Abnormal cerebral vascular morphology, Micrognathia, Abnormal thora... |
ORPHA:2067 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Hyperlordosis, Delayed skeletal maturation, Limitation of joint mobili... |
ORPHA:3068 |
| Weiss-Kruszka Syndrome |
|
Prominent metopic ridge, Proximal placement of thumb, Dextrotransposition of the great arteries, ... |
OMIM:618619 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Intrauterine growth retardation, Enamel hypoplasia, Hematochezia |
OMIM:243150 |
| Hsd10 Disease, Infantile Type |
|
Choreoathetosis, Hypertrophic cardiomyopathy, Cyanosis, Dystonia |
ORPHA:391428 |
| Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
| Fryns Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Abnormal aortic mo... |
ORPHA:2059 |
| Platyspondylic Dysplasia, Torrance Type |
|
Platyspondyly, Short thorax, Narrow chest, Hypoplastic scapulae |
ORPHA:85166 |
| Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Microretrognathia, Ost... |
OMIM:614008 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Ubiquitin-positive cerebral inclusion bodies |
ORPHA:52430 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Missing ribs, Aqueductal stenosis, Absent thumb, Absent radius, Humeroradial synostos... |
OMIM:251230 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Oral cavity bleeding, Menorrhagi... |
ORPHA:324636 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Scoliosis |
OMIM:156500 |
| Xylt1-Cdg |
|
Joint dislocation, Joint laxity, Coxa valga, Accelerated skeletal maturation, Flared metaphysis, ... |
ORPHA:370930 |
| Neonatal Adrenoleukodystrophy |
|
Wide anterior fontanel, Short stature, Abnormality of neuronal migration |
ORPHA:44 |
| Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Small for gestational age, Short neck, Hyperlordosis, Del... |
OMIM:612921 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:2516 |
| Desmosterolosis |
|
Severe short stature, Abnormal cortical gyration, Pachygyria, Hydrocephalus, Patent ductus arteri... |
ORPHA:35107 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Redundant neck skin, Proximal placement of thumb, Micrognathia, Short neck, Wide ante... |
OMIM:217980 |
| Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Abnormal bleeding, Epistaxis, Cutis laxa, Prolonged prothrombin time, Atherosclerosis |
OMIM:610842 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:264700 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Prolonged bleeding time, Joint dislocation, Osteomalacia, Coxa valga, Avascular necro... |
ORPHA:1901 |
| Specific Granule Deficiency 2 |
|
Osteopenia, Death in infancy, Sandal gap, Recurrent pneumonia, Hyperextensible skin, Death in chi... |
OMIM:617475 |
| Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Abnormal cerebral vascu... |
ORPHA:758 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Solitary Bone Cyst |
|
Back pain, Abnormal spinal cord morphology, Abnormal form of the vertebral bodies |
ORPHA:83468 |
| Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Microretrognathia, Absent vertebral body mineralization, Broad long bones, S... |
OMIM:200610 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Lateral ventricle dilatation, Choroid plexus cyst, Adducted thumb |
ORPHA:293725 |
| Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
| Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Ovoid thoracolumbar vertebrae |
OMIM:252920 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Barrel-shaped chest, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, ... |
ORPHA:94068 |
| Stickler Syndrome, Type I |
|
Pectus excavatum, Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bo... |
OMIM:108300 |
| Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
| Ollier Disease |
|
Platyspondyly |
ORPHA:296 |
| C1Q Deficiency 2 |
|
Atelectasis, Bronchiectasis, Facial erythema, Arthritis, Vasculitis in the skin, Recurrent lower ... |
OMIM:620321 |
| Trisomy 13 |
|
Kyphosis, Patent ductus arteriosus, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal... |
ORPHA:3378 |
| Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
ORPHA:95613 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Joint dislocation, Genu recurvatum, Micrognathia, Accelerated skeletal maturation, Fl... |
OMIM:130070 |
| Dysosteosclerosis |
|
Hypoplastic vertebral bodies, Irregular vertebral endplates, Platyspondyly, Abnormal dental ename... |
ORPHA:1782 |
| Mucopolysaccharidosis Type 7 |
|
Anterior beaking of lower thoracic vertebrae, Inguinal hernia, Short neck, Enlarged thorax, Scoli... |
ORPHA:584 |
| Lethal Congenital Contracture Syndrome 1 |
|
Micrognathia, Paucity of anterior horn motor neurons, Abnormal thorax morphology, Pulmonary hypop... |
OMIM:253310 |
| Noonan Syndrome 8 |
|
Large for gestational age, Short neck, Patent ductus arteriosus, Pleural effusion, Abnormal stern... |
OMIM:615355 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... |
OMIM:618652 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Anterior pituitary hypoplasia, Aqueductal stenosis, Knee dislocation, Neonatal death,... |
OMIM:619534 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Micrognathia, Patent ductus arteriosus, Delayed skeletal maturation, Cerebral atrophy, Coarctatio... |
OMIM:614857 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint dislocation, Congenital hip dislocation, Hyperextensible skin, Joint laxity, Ar... |
OMIM:225400 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Stroke |
ORPHA:49827 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
| Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Premature coronary artery atherosclerosis |
ORPHA:140905 |
| Galactokinase Deficiency |
|
Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia |
ORPHA:79237 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Omphalocele, Short stature, Camptodactyly, Ventral hernia |
OMIM:618529 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Cerebral hemorrhage |
OMIM:301081 |
| Craniometadiaphyseal Dysplasia |
|
Osteopenia, Broad long bones, Coxa valga, Cubitus valgus, Wide anterior fontanel, Flared metaphys... |
OMIM:269300 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Micrognathia, Pectus excavatum, Joint stiffness, Abnormal thorax morphology, Flexion co... |
ORPHA:1979 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... |
ORPHA:85327 |
| Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morphology, Ventricular se... |
ORPHA:99094 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Popliteal pterygium, Patellar aplasia |
ORPHA:3329 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Talipes equinovarus |
ORPHA:401815 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Sacral dimple, Short neck, Kyphosis, Scoliosis, Camptodactyly |
OMIM:616894 |
| Carpenter Syndrome 2 |
|
Short neck, Preaxial polydactyly, Coxa vara, Pectus carinatum, Knee flexion contracture, Cutaneou... |
OMIM:614976 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin clavicles, Delayed skeletal maturation, ... |
ORPHA:93324 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Platyspondyly |
ORPHA:319195 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
| Dextrocardia |
|
Abnormal EKG, Congenital hip dislocation, Hydrocephalus, Abnormal rib morphology, Abnormal lung l... |
ORPHA:1666 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Holoprosencephaly... |
OMIM:618820 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
| Non-Syndromic Posterior Hypospadias |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:95706 |
| Hypokalemic Periodic Paralysis |
|
Impaired myocardial contractility, Periodic hypokalemic paresis, Respiratory paralysis, Paralysis |
ORPHA:681 |
| Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Transient ischemic attack, Ovoid vertebral bodies, Short neck, Congestive h... |
ORPHA:1830 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Neurodegeneration |
OMIM:615643 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Subcortical heterotopia, Agyria, Partial agenesis of the corpus callosum, Hydrocep... |
OMIM:614643 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect |
OMIM:249270 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Flexion contracture, Atrioventricular block, Abnormal form of the v... |
ORPHA:581 |
| Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abnormal stern... |
OMIM:613795 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Dry skin, Scaling skin, Cutis laxa |
ORPHA:2269 |
| Alagille Syndrome 1 |
|
Butterfly vertebral arch, Abnormal rib morphology, Hemivertebrae, Coarctation of aorta, Stroke, R... |
OMIM:118450 |
| Pseudoxanthoma Elasticum |
|
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failu... |
OMIM:264800 |
| Andersen-Tawil Syndrome |
|
Prolonged QT interval, Periodic hyperkalemic paralysis, Bidirectional ventricular ectopy, Periodi... |
ORPHA:37553 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Hydrocephalus |
ORPHA:2736 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Genu recurvatum, Reduced bone mineral density, Slender long bone, Joint hyperflexibility, Hyperex... |
ORPHA:1185 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis |
OMIM:263000 |
| Cardiofaciocutaneous Syndrome 4 |
|
Joint laxity, Decreased response to growth hormone stimulation test, Pectus excavatum, Hyperexten... |
OMIM:615280 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Redundant neck skin, Aplasia/Hypoplasia of the scapu... |
ORPHA:3472 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Tempi Syndrome |
|
Intracranial hemorrhage, Telangiectasia |
ORPHA:284227 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect |
OMIM:243440 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Redundant neck skin, Ulnar deviation of the hand, Rocker bottom foot, Micrognathia, Metatarsus ad... |
OMIM:214100 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Wormian bones, Hyperlordosis, Kyphosis, H... |
OMIM:617821 |
| Otopalatodigital Syndrome, Type Ii |
|
Omphalocele, Elbow contracture, Kyphoscoliosis, Short neck, Pectus excavatum, Wide anterior fonta... |
OMIM:304120 |
| Werner Syndrome |
|
Increased bone mineral density, Telangiectasia of the skin, Rocker bottom foot, Myocardial infarc... |
ORPHA:902 |
| 3C Syndrome |
|
Inguinal hernia, Short stature, Postnatal growth retardation, Hydrocephalus, Abnormality of neuro... |
ORPHA:7 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Micrognathia, Thin ribs, Slender long bone, Decreased calvarial ossification, D... |
OMIM:618265 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
| 16Q24.3 Microdeletion Syndrome |
|
Proximal placement of thumb, Micrognathia, Kyphosis, Dilated cardiomyopathy, Colpocephaly, Mitral... |
ORPHA:261250 |
| Hydrolethalus Syndrome 1 |
|
Omphalocele, Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Stillbirth, Severe... |
OMIM:236680 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... |
ORPHA:79085 |
| Holoprosencephaly |
|
Encephalocele, Omphalocele, Congenital diaphragmatic hernia, Hydrocephalus, Abnormality of neuron... |
ORPHA:2162 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
| Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Macrogy... |
ORPHA:899 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Cerebellar atrophy, Death in infancy, Tricuspid regurgitation, Small for ge... |
OMIM:614866 |
| Atelosteogenesis Type I |
|
Coronal cleft vertebrae, Platyspondyly, Narrow chest, Scoliosis, Absent or minimally ossified ver... |
ORPHA:1190 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Rocker bottom foot, Hydrocephalus, Patent duct... |
ORPHA:163979 |
| Opsismodysplasia |
|
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... |
OMIM:258480 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,... |
OMIM:610682 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Wormian bones |
ORPHA:2787 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
| Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Cardiomyopathy, Polymicrogyria, ... |
ORPHA:370959 |
| Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Transient ischemic attack, Swelling of proximal interphalangeal joints, Supraventr... |
ORPHA:3260 |
| Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Transient ischemic attack, Carotid artery stenosis, Lacunar stroke, Arteriosclerosis of small cer... |
OMIM:600142 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Abnormal vena cava morpholo... |
ORPHA:163956 |
| Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... |
ORPHA:2167 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Neuronal loss in central nervous system, Neurodegeneration, Cerebral atrophy |
OMIM:256600 |
| Diabetic Embryopathy |
|
Ventricular septal defect, Tetralogy of Fallot, Abnormal aortic morphology, Transposition of the ... |
ORPHA:1926 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Coronary artery atherosclerosis |
ORPHA:79084 |
| Cat-Eye Syndrome |
|
Hip dysplasia, Abnormal rib morphology |
ORPHA:195 |
| Myoclonic Epilepsy Of Lafora |
|
Lafora bodies |
OMIM:254780 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Joint laxity, Prominent superficial veins, Tricuspid regurgitation, Overlap... |
OMIM:617402 |
| Hallermann-Streiff Syndrome |
|
Recurrent respiratory infections, Wormian bones, Small for gestational age, Spina bifida, Microgn... |
OMIM:234100 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Lewy bodies, Eye of the tiger anomaly of globus pallidus |
OMIM:614298 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterios... |
ORPHA:284169 |
| Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Cyanosis, Postaxial polydactyly, I... |
OMIM:619879 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Short neck, Pectus carinatum, Abnormal calcificatio... |
OMIM:271665 |
| Mosaic Trisomy 9 |
|
Ventriculomegaly, Rocker bottom foot, Spina bifida, Micromelia, Camptodactyly of finger, Microgna... |
ORPHA:99776 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Recurrent respiratory infections, Osteomyelitis, Recurrent fractures, Craniosynostosi... |
ORPHA:2314 |
| Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... |
OMIM:131100 |
| Tetrasomy 18P |
|
Syncope, Abnormality of neuronal migration |
ORPHA:3307 |
| Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... |
ORPHA:83 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Bowing of the long bones, Recurrent fractures, Craniosynostosis... |
ORPHA:667 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Short finger, Heart murmur, Tapered finger |
ORPHA:1867 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
ORPHA:412 |
| Fetal Akinesia Deformation Sequence 1 |
|
Elbow contracture, Micrognathia, Short neck, Congenital contracture, Wrist flexion contracture, E... |
OMIM:208150 |
| Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Ventricular septal defect |
OMIM:615524 |
| Congenital Tracheomalacia |
|
Failure to thrive, Pneumonia, Patent ductus arteriosus, Partial anomalous pulmonary venous return... |
ORPHA:95430 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... |
OMIM:300942 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Cognitive impairment, Dystonia |
ORPHA:309246 |
| 6Q Terminal Deletion Syndrome |
|
Hallux valgus, Aplasia/Hypoplasia of the ribs, Joint laxity, Prominent metopic ridge, Micrognathi... |
ORPHA:75857 |
| Dpagt1-Cdg |
|
Prolonged QT interval, Arachnodactyly, Flexion contracture, Osteoporosis, Stroke-like episode, In... |
ORPHA:86309 |
| Lymphangiectasia, Intestinal |
|
Edema, Pedal edema, Stillbirth, Intestinal lymphangiectasia, Prominent floating ribs |
OMIM:152800 |
| Lysinuric Protein Intolerance |
|
Recurrent fractures, Delayed skeletal maturation, Osteoporosis, Intraalveolar phospholipid accumu... |
OMIM:222700 |
| Hereditary Late-Onset Parkinson Disease |
|
Lewy bodies, Cerebral cortical atrophy |
ORPHA:411602 |
| Gm1-Gangliosidosis, Type Ii |
|
Ataxia, Patent ductus arteriosus, Spastic tetraplegia, Hypoplastic vertebral bodies, Platyspondyl... |
OMIM:230600 |
| Fibromuscular Dysplasia, Multifocal |
|
Tortuous cerebral arteries, Carotid artery tortuosity, Soft skin, Joint hypermobility, Micrognath... |
OMIM:619329 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Decreased circulating renin level, Isosexual precocious pub... |
ORPHA:90795 |
| Lowry-Maclean Syndrome |
|
Inguinal hernia, Craniosynostosis, Congenital diaphragmatic hernia, Hydrocephalus, Coarctation of... |
ORPHA:2409 |
| Williams-Beuren Syndrome |
|
Osteopenia, Flexion contracture, Clinodactyly of the 5th finger, Joint laxity, Portal hypertensio... |
OMIM:194050 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Redundant neck skin, Anterior concavity of thoracic vertebrae, Micrognathia, Short pa... |
OMIM:249420 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus, Abnormality of neuronal migration |
ORPHA:1895 |
| Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... |
ORPHA:2769 |
| Campomelia, Cumming Type |
|
Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Abnormal t... |
ORPHA:1318 |
| Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... |
ORPHA:210122 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
| Dravet Syndrome |
|
Cyanotic episode, Tibial torsion, Action tremor |
ORPHA:33069 |
| Stormorken Syndrome |
|
Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Bruising susceptibility |
OMIM:185070 |
| Alg9-Cdg |
|
Omphalocele, Prominent metopic ridge, Tricuspid regurgitation, Rhizomelia, Lipodystrophy, Wide an... |
ORPHA:79328 |
| Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Recurrent respiratory infections, Recurrent intrapulmonary hemorrhage, A... |
ORPHA:906 |
| Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... |
ORPHA:99901 |
| Macular Degeneration, Age-Related, 3 |
|
Hyperextensible skin, Joint hypermobility |
OMIM:608895 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Ventricular septal defect, Coarctation of aorta |
OMIM:620210 |
| Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Cyanosis, Tachycardia, Atrial fibrillation, Congestive heart failur... |
ORPHA:980 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage |
OMIM:243700 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Cerebellar atrophy, Short humerus, Short femur, Tapered finger, Lateral ventricle dilatation, Sho... |
OMIM:618367 |
| 22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... |
ORPHA:1727 |
| Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo... |
OMIM:601005 |
| Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow contracture, Knee flex... |
OMIM:617201 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Abnormal cortical gyration, Pachygyria, Large fontanelles, Abnormality of neuronal... |
ORPHA:2211 |
| Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Wormian bones, Stillbirth, Disproportionate short-limb short stature |
OMIM:259410 |
| Fryns Syndrome |
|
Omphalocele, Short neck, Thin ribs, Aplasia of the left hemidiaphragm, Camptodactyly, Broad ribs,... |
OMIM:229850 |
| Spondyloperipheral Dysplasia |
|
Barrel-shaped chest, Ovoid vertebral bodies, Short neck, Kyphosis, Pectus carinatum, Irregular ve... |
OMIM:271700 |
| Holoprosencephaly 7 |
|
Omphalocele, Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Lo... |
OMIM:610828 |
| Sepsis In Premature Infants |
|
Tachycardia, Cyanosis, Edema, Jaundice, Bradycardia, Hypotension, Petechiae, Purpura |
ORPHA:90051 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
| Scalp-Ear-Nipple Syndrome |
|
Finger syndactyly, Congestive heart failure, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly,... |
OMIM:181270 |
| Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:616589 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Vasculitis, Erythema, Urticaria, Acrocyanosis, Purpura |
ORPHA:343 |
| Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Joint stiffness, Atelectasis, Abnormal finger morphology, Cutaneous fing... |
ORPHA:896 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Block vertebrae, Micrognathia, Hydrocephalus, Patent ductus arteriosus, ... |
OMIM:164210 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Lumbar hyperlordosis, Flexion contracture, Coronal cleft vertebrae, Platyspondyly, Beaking of ver... |
OMIM:215150 |
| Hypercholesterolemia, Familial, 1 |
|
Coronary artery atherosclerosis |
OMIM:143890 |
| Schimke Immunoosseous Dysplasia |
|
Lumbar hyperlordosis, Transient ischemic attack, Ovoid vertebral bodies, Short neck, Arterioscler... |
OMIM:242900 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Wide cranial sutures, Thin bony cortex, Osteomalacia, Irregular, rachi... |
ORPHA:289157 |
| Saul-Wilson Syndrome |
|
Pectus excavatum, Hypoplasia of the odontoid process, Wide anterior fontanel, Pectus carinatum, I... |
OMIM:618150 |
| Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Delayed skeletal matu... |
OMIM:244460 |
| Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Intracranial ... |
OMIM:613406 |
| Khan-Khan-Katsanis Syndrome |
|
Sacral dimple, Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Postaxial... |
OMIM:618460 |
| Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Syndactyly, Small for gestational age, Patent ductus arteriosus, Tetral... |
OMIM:619869 |
| Hughes-Stovin Syndrome |
|
Pulmonary artery aneurysm, Vasculitis, Arterial stenosis |
ORPHA:228116 |
| Zaki Syndrome |
|
Dilated fourth ventricle, Sacral dimple, Toe syndactyly, Micrognathia, Long fingers, Patent ductu... |
OMIM:619648 |
| Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
| X-Linked Creatine Transporter Deficiency |
|
Joint hyperflexibility, Redundant skin, Cachexia |
ORPHA:52503 |
| Infantile Liver Failure Syndrome 3 |
|
Hypoplastic vertebral bodies, Beaking of vertebral bodies, Platyspondyly |
OMIM:618641 |
| Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level |
ORPHA:528 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Co... |
OMIM:615219 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Cyanosis, Atrial fibrillation, Congestive heart failur... |
ORPHA:31826 |
| X-Linked Hypophosphatemia |
|
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... |
ORPHA:89936 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Redundant neck skin, Scoliosis, Camptodactyly, Clinodactyly, Spina bifida occulta, Agenesis of co... |
OMIM:617360 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Tapered fing... |
ORPHA:2215 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Pectus excavatum, Anterior scalloping of vertebral bodies, Cuboid-shaped vertebral bo... |
OMIM:611717 |
| Wolcott-Rallison Syndrome |
|
Atrial septal defect, Double outlet right ventricle |
ORPHA:1667 |
| Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, M... |
ORPHA:340 |
| Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Fibular hypoplasia, Flat acetabu... |
OMIM:600002 |
| Elsahy-Waters Syndrome |
|
Pectus excavatum, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Cervical C... |
OMIM:211380 |
| Bronchopulmonary Dysplasia |
|
Small for gestational age, Right ventricular failure, Atelectasis, Abnormal lung morphology, Emph... |
ORPHA:70589 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Cyanosis, Pericardial effusion, Hypoxemia, Systolic heart murmur |
ORPHA:555874 |
| Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Caudate atrophy, Failure to thrive, Ventriculomegaly, Micrognathia, Lar... |
OMIM:615574 |
| Marfan Syndrome |
|
Osteopenia, Limited elbow movement, Micrognathia, Pectus carinatum, Emphysema, Arachnodactyly, Os... |
ORPHA:558 |
| Gm1 Gangliosidosis |
|
Ataxia, Hyperlordosis, Tremor, Kyphosis, Congestive heart failure, Patent ductus arteriosus, Abno... |
ORPHA:354 |
| X-Linked Ehlers-Danlos Syndrome |
|
Umbilical hernia, Hyperextensible skin, Bruising susceptibility, Joint hyperflexibility |
ORPHA:75497 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Inguinal hernia, Congenital diaphragmatic hernia, Abnormality of neurona... |
ORPHA:2063 |
| Epidermal Nevus Syndrome |
|
Thoracolumbar scoliosis, Spinal cord compression, Atrophy of the spinal cord, Progressive spastic... |
ORPHA:35125 |
| Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage, Spinal cord lesion, Scoliosis |
ORPHA:221061 |
| Trisomy 20P |
|
Inguinal hernia, Camptodactyly of finger, Spina bifida, Short neck, Kyphosis, Abnormal form of th... |
ORPHA:261318 |
| 8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
| Alagille Syndrome 2 |
|
Atrial septal defect, Tetralogy of Fallot, Pulmonic stenosis, Peripheral pulmonary artery stenosis |
OMIM:610205 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Recurrent joint dislocation, Recurrent fractures, Arterial rupture, Reduced bone mineral density,... |
OMIM:619115 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cardiomyopathy, Cerebellar hemorrhage |
OMIM:251000 |
| Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Ventricular escape rhythm, Sudden cardiac death, Hyperlordosis, Short neck, Kyphosis, ... |
ORPHA:98863 |
| Noonan Syndrome With Multiple Lentigines |
|
Bundle branch block, Scapular winging, Myocardial infarction, Pectus excavatum, Pectus carinatum,... |
ORPHA:500 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... |
ORPHA:85167 |
| Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Simplified gyral pattern, Periventricular heterotopia |
OMIM:618273 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Cubitus valgus, Gray matter heterotopia, Camptodactyly, Knee flexion contracture |
OMIM:619694 |
| Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Hiatus hernia, My... |
OMIM:305600 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:613870 |
| Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular... |
OMIM:252600 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Abnormal cerebral vascular morphology, Patent ductus arteriosus, Arterial stenosis, Stroke, Atria... |
ORPHA:2637 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:300894 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Prominent superficial veins, Coronary artery atherosclerosis |
OMIM:608600 |
| Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Omphalocele, Scoliosis |
ORPHA:3164 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Cerebral hemorrhage, Scoliosis |
OMIM:616682 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Achilles tendon contracture, Right bundle branch block, Decreased cervical spine fle... |
ORPHA:254361 |
| Hall-Riggs Syndrome |
|
Platyspondyly, Abnormal dental enamel morphology, Scoliosis |
ORPHA:2107 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Wormian bones, Patent ductus arteriosus, Short stature, Camptodactyly of finger |
ORPHA:2863 |
| Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Omphalocele, Hydrocephalus, Holoprosencephaly, Umbilical hernia |
ORPHA:2166 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Intracranial ... |
ORPHA:91350 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Cyanosis, Tachycardia, Atrial fibrillation, Junct... |
ORPHA:137675 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Intrauterine growth retardation, Pachygyria, Agenesis of corpus callosum, Periventricular heterot... |
ORPHA:255138 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
| Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Coronal cleft vertebrae, Platysp... |
ORPHA:1427 |
| Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Hyperextensibility of the knee, Tibial bowing, Short palm, Joint contracture, Delay... |
OMIM:601812 |
| Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Ventricular escape rhythm, Sudden cardiac death, Spinal rigidity, Hyperlordosis, Kypho... |
ORPHA:261 |
| Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Short neck |
OMIM:200995 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Ventricular escape rhythm, Sudden cardiac death, Spinal rigidity, Hyperlordosis, Kypho... |
ORPHA:98853 |
| Congenital Rubella Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Abnormality of the pulmonary artery, Ventricular ... |
ORPHA:290 |
| Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Scapular winging, Thoracic scoliosis, Tapered toe, Shoulder flexion contracture,... |
OMIM:620369 |
| Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Joint dislocation, Joint laxity, Prominent superficial veins, Arachnodactyly, Generalized joint l... |
OMIM:130080 |
| Idiopathic Congenital Hypothyroidism |
|
Large posterior fontanelle, Umbilical hernia, Bradycardia, Delayed cranial suture closure |
ORPHA:95717 |
| Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal defect,... |
ORPHA:2847 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Abnormal curvature of the vertebral column, ... |
ORPHA:93360 |
| Weill-Marchesani Syndrome 2 |
|
Short metatarsal, Broad ribs, Broad metacarpals, Short metacarpal, Lumbar hyperlordosis, Patent d... |
OMIM:608328 |
| Desbuquois Dysplasia 1 |
|
Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Narrow chest, Scoliosis |
OMIM:251450 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
| Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Short stature, Hydrocephalus, Wormian bones, Coronal craniosynostosi... |
OMIM:112240 |
| Giant Cell Arteritis |
|
Pericarditis, Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary vent... |
ORPHA:397 |
| Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart |
OMIM:618142 |
| Gm1 Gangliosidosis Type 1 |
|
Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Platyspondyly, Beaking of vertebr... |
ORPHA:79255 |
| Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
| Meckel Syndrome, Type 1 |
|
Omphalocele, Occipital encephalocele, Camptodactyly of finger, Hydrocephalus, Patent ductus arter... |
OMIM:249000 |
| Loeys-Dietz Syndrome 2 |
|
Micrognathia, Descending thoracic aorta aneurysm, Pectus carinatum, Abnormal sternum morphology, ... |
OMIM:610168 |
| Bartsocas-Papas Syndrome 1 |
|
Omphalocele, Inguinal hernia, Flexion contracture, Popliteal pterygium, Intrauterine growth retar... |
OMIM:263650 |
| Aicardi-Goutieres Syndrome 1 |
|
Dystonia, Erythema, Vasculitis, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosis, Petech... |
OMIM:225750 |
| Parietal Foramina 1 |
|
Encephalocele, Wormian bones |
OMIM:168500 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Increa... |
ORPHA:79644 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bowin... |
OMIM:276820 |
| Chromosome 16Q22 Deletion Syndrome |
|
Prominent metopic ridge, Postnatal growth retardation, Wide anterior fontanel, Growth delay, Worm... |
OMIM:614541 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
| Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Micrognathia, Short neck, Tibial bowing, Broad ribs, Wide anterior ... |
ORPHA:798 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia |
ORPHA:159 |
| Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... |
OMIM:210250 |
| Krabbe Disease |
|
Diffuse cerebral atrophy, Neurodegeneration |
OMIM:245200 |
| Kyphomelic Dysplasia |
|
Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Pterygium, Short ... |
OMIM:211350 |
| Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Kyphoscoliosis, Pectus excavatum, Platyspondyly, Cervical instability, Thoracolumbar kyphosis |
OMIM:617425 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98913 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
| Esophageal Atresia |
|
Omphalocele, Abnormal vertebral morphology, Scoliosis |
ORPHA:1199 |
| Severe Congenital Nemaline Myopathy |
|
Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Pulmonar... |
ORPHA:171430 |
| Homozygous Familial Hypercholesterolemia |
|
Precocious atherosclerosis, Abnormal internal carotid artery morphology, Peripheral arterial sten... |
ORPHA:391665 |
| C Syndrome |
|
Joint dislocation, Death in infancy, Sacral dimple, Toe syndactyly, Failure to thrive in infancy,... |
ORPHA:1308 |
| Ellis-Van Creveld Syndrome |
|
Hypoplastic iliac wing, Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Pos... |
OMIM:225500 |
| Lambert Syndrome |
|
Ventricular septal defect |
ORPHA:1296 |
| Costello Syndrome |
|
Barrel-shaped chest, Hyperextensibility of the finger joints, Redundant neck skin, Limited elbow ... |
OMIM:218040 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Severe short stature, Large fontanelles, Abnormality of the wrist, Delayed cranial suture closure... |
ORPHA:2511 |
| Developmental And Epileptic Encephalopathy 31B |
|
Colpocephaly, Brain atrophy, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620352 |
| Acrorenal-Mandibular Syndrome |
|
Micrognathia, Hemivertebrae, Narrow chest, Hypoplasia of the ulna, Split hand, Split foot, Toe sy... |
OMIM:200980 |
| B4Galt1-Cdg |
|
Abnormal bleeding, Redundant neck skin, Small for gestational age, Hydrocephalus, Dandy-Walker ma... |
ORPHA:79332 |
| Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... |
OMIM:301043 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Redundant neck skin, Cardiomyopathy, Pulmonary hypoplasia, Neonatal death, Pulmonary arterial hyp... |
OMIM:619003 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... |
OMIM:609945 |
| Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
| Sillence Syndrome |
|
Back pain, Platyspondyly, Scoliosis, Camptodactyly, Abnormal vertebral morphology, Intervertebral... |
ORPHA:3168 |
| Transketolase Deficiency |
|
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... |
ORPHA:488618 |
| Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
| Immunodeficiency 47 |
|
Death in infancy, Tricuspid regurgitation, Cutis laxa, Failure to thrive, Joint hypermobility |
OMIM:300972 |
| Smith-Lemli-Opitz Syndrome |
|
Diffuse cerebral atrophy, Micromelia, Proximal placement of thumb, Micrognathia, Partial agenesis... |
OMIM:270400 |
| Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... |
ORPHA:562 |
| Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
| Meningioma |
|
Back pain, Enlarged pituitary gland, Cerebral hemorrhage, Reduced circulating prolactin concentra... |
ORPHA:2495 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Kyphosis, Abnormal spinal cord morphology, Gait ataxia, Scoliosis |
ORPHA:88628 |
| Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femo... |
OMIM:600920 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Barrel-shaped chest, Hyperlordosis, Hypoplasia of the odontoid process, Irregular vertebral endpl... |
OMIM:226980 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Pulmonary a... |
OMIM:600001 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary embolism, Atrophy of the spinal cord, Hydrocephalus, Dilated cardiomyopathy, Subdural h... |
ORPHA:79282 |
| Ppoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Abnormality of the t... |
ORPHA:97278 |
| Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Ba... |
ORPHA:99095 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Calcaneovalgus deformity, Flexion contracture, Pectus carinatum, Abnormality of the pulmonary art... |
ORPHA:261537 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Cutis marmorata, Transient ischemic attack, Myocardial infar... |
ORPHA:183 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... |
OMIM:600987 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Thoracic dysplasia, Narro... |
OMIM:208500 |
| 22Q11.2 Deletion Syndrome |
|
Micrognathia, Short neck, Abnormal lung lobation, Abnormal aortic arch morphology, Arachnodactyly... |
ORPHA:567 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Redundant neck skin, Overlapping toe, Craniosynostosis, Hydrocephalus, Limited elbow extension, H... |
OMIM:123790 |
| 8P23.1 Microdeletion Syndrome |
|
Pulmonary artery stenosis, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal aortic... |
ORPHA:251071 |
| Agel Amyloidosis |
|
Respiratory tract infection, Bruising susceptibility, Cutis laxa, Cardiomyopathy, Arrhythmia, Dry... |
ORPHA:85448 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Redundant neck skin, Patent ductus arteriosus, Postaxial hand polydactyly, Abnormal rib morpholog... |
ORPHA:2519 |
| Aymé-Gripp Syndrome |
|
Pericarditis, Prominent metopic ridge, Rocker bottom foot, Delayed cranial suture closure, Tapere... |
ORPHA:1272 |
| Neu-Laxova Syndrome |
|
Osteopenia, Ventriculomegaly, Osteomalacia, Spina bifida, Micromelia, Micrognathia, Flexion contr... |
ORPHA:2671 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Cardiomyopathy, Arrhythmia, Polymic... |
ORPHA:157 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Cyanosis, Clubbing |
OMIM:610910 |
| Desbuquois Dysplasia 2 |
|
Lumbar hyperlordosis, Short neck, Pectus excavatum, Pectus carinatum, Platyspondyly, Narrow chest... |
OMIM:615777 |
| Radio-Renal Syndrome |
|
Micromelia, Micrognathia, Short neck, Hypoplasia of the radius, Abnormal rib morphology, Abnormal... |
ORPHA:3015 |
| Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Cyanosis |
ORPHA:1302 |
| Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
| Mucopolysaccharidosis, Type Iiid |
|
Cerebellar atrophy, Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Sh... |
OMIM:252940 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Micrognathia, Lateral clavicle hook, Wide anterior fontanel, Short neck, P... |
OMIM:617925 |
| Shwachman-Diamond Syndrome 1 |
|
Small for gestational age, Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal sclerosis, E... |
OMIM:260400 |
| Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Facial-lingual fasciculations, Babinski sign, Vocal cord ... |
ORPHA:276244 |
| Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Cyanosis |
ORPHA:91359 |
| Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia |
OMIM:617008 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Choreoathetosis, Cyanosis, Hand clenching, Opisthotonus |
OMIM:619580 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:75389 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Transposition of the great arteries, Subval... |
OMIM:280000 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
| Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology, Persistent cloaca |
OMIM:615709 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lumbar hyperlordosis, Kyphoscoliosis, Increased intervertebral space, Raynaud phenomenon, Spastic... |
OMIM:607944 |
| Osteogenesis Imperfecta, Type Xxii |
|
Wormian bones, Intrauterine growth retardation, Short stature, Dentinogenesis imperfecta |
OMIM:619795 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Hip subluxation, Short stature, Abnormality of neuronal migration |
OMIM:300957 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Atrial septal defect, Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis |
OMIM:618223 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hyperlordosis, Atelectasis, Flexion contracture, Cardiomyopathy, Pontocerebellar atrophy, Reduced... |
ORPHA:258 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Accelerated atherosclerosis, Coronary artery atherosclerosis |
OMIM:618620 |
| Tangier Disease |
|
Left ventricular hypertrophy, Coronary artery atherosclerosis, Atherosclerosis |
OMIM:205400 |
| Primary Pulmonary Hypoplasia |
|
Hypoxemia, Cyanosis, Patellar hypoplasia |
ORPHA:2257 |
| Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Absent sternal ossification, Aplasia/Hypoplasia of the patella, Micrognathia, ... |
OMIM:613803 |
| Keutel Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:85202 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Microretrognathia, Broad hallux, Deviation of the hallux, Short neck, P... |
ORPHA:434179 |
| Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration |
ORPHA:803 |
| Van Maldergem Syndrome 1 |
|
Wide cranial sutures, Wide anterior fontanel, Radial head subluxation, Subcortical band heterotop... |
OMIM:601390 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hemoper... |
ORPHA:99827 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Death in infancy, Redundant neck skin, Thyroid lymphangiectasia, Micrognathia, Pancreatic lymphan... |
OMIM:235255 |
| Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... |
OMIM:616843 |
| Poems Syndrome |
|
Edema, Pericardial effusion, Metaphyseal sclerosis, Ascites, Clubbing of fingers, Pulmonary arter... |
ORPHA:2905 |
| Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ... |
ORPHA:2306 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Small hand, Short f... |
ORPHA:488434 |
| Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Micrognathia, Pectus excavatum, Short neck, Patent ductus arteri... |
OMIM:605275 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... |
OMIM:619343 |
| Rift Valley Fever |
|
Back pain, Abnormal bleeding, Paralysis, Hematemesis, Paraparesis, Retinal hemorrhage, Hemiparesi... |
ORPHA:319251 |
| Grfoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym... |
ORPHA:97261 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Neurodegeneration, Cerebral cortical atrophy, Cerebral atrophy |
OMIM:615157 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Kyphoscoliosis, Abnormality of the vertebral column, Platyspondyly, Scoliosis |
ORPHA:93316 |
| Opitz-Kaveggia Syndrome |
|
Inguinal hernia, Multiple joint contractures, Short stature, Delayed closure of the anterior font... |
OMIM:305450 |
| Restrictive Dermopathy 2 |
|
Cyanosis |
OMIM:619793 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Wormian bones, Short stature, Dentinogenesis imperfecta |
ORPHA:166277 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Calcaneovalgus deformity, Flexion contracture, Pectus carinatum, Abnormality of the pulmonary art... |
ORPHA:261552 |
| Cockayne Syndrome Type 3 |
|
Kyphosis, Subdural hemorrhage, Retinal hemorrhage, Premature coronary artery atherosclerosis, Car... |
ORPHA:90324 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Diffuse cerebellar atrophy, Axonal degeneration, Neurodegeneration, Global brain atrophy |
ORPHA:478029 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Spontaneous, recurrent epistaxis, Cachexia, Pectus excavatum, Hydrocephalus, Calci... |
ORPHA:2072 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Micrognathia, Death in infancy, Osteomalacia, Atelectasis, Abnormal rib morphology, Skin ulcer, J... |
ORPHA:534 |
| Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atriu... |
OMIM:601186 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Pulmonary arterial hypertension, Cyanosis, Clubbing |
OMIM:265120 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
| Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
| Choreoacanthocytosis |
|
Caudate atrophy, Dilated cardiomyopathy, Weight loss, Arthritis, Lateral ventricle dilatation, Fr... |
ORPHA:2388 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath... |
ORPHA:363618 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
| Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Facial palsy secondary to... |
OMIM:269500 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
| Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2328 |
| Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Micrognathia, Pectus excavatum, Patent ductus arte... |
ORPHA:555877 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Abnormal lung lobation, Abnormal form of t... |
ORPHA:818 |
| Mend Syndrome |
|
Microretrognathia, Sacral dimple, Redundant neck skin, Broad hallux, Overlapping toe, Micrognathi... |
OMIM:300960 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Abnormal heart morphology, Persistent left superior vena cava, Coarcta... |
OMIM:618494 |
| Exstrophy-Epispadias Complex |
|
Omphalocele, Inguinal hernia, Spina bifida, Hydrocephalus, Abnormal joint morphology, Cystocele, ... |
ORPHA:322 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
| Machado-Joseph Disease Type 1 |
|
Facial-lingual fasciculations, Babinski sign, Abnormal pyramidal sign, Vocal cord paralysis, Clum... |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Facial-lingual fasciculations, Babinski sign, Abnormal pyramidal sign, Vocal cord paralysis, Clum... |
ORPHA:276241 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Joint dislocation, Recurrent fractures, Arterial rupture, Hyperextensible skin, Bruising suscepti... |
OMIM:619120 |
| Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
| Spinocerebellar Ataxia Type 3 |
|
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... |
ORPHA:98757 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
| Brittle Cornea Syndrome |
|
Hallux valgus, Arachnodactyly, Osteoporosis, Increased susceptibility to fractures, Joint hyperfl... |
ORPHA:90354 |
| Chromosome 18P Deletion Syndrome |
|
Barrel-shaped chest, Redundant neck skin, Small for gestational age, Toe syndactyly, Micrognathia... |
OMIM:146390 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Otosclerosis, Inguinal hernia, Prominent metopic ridge, Diastasis recti, Congenital ... |
ORPHA:116 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short neck, Paten... |
ORPHA:457395 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... |
OMIM:600460 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:500159 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Inguinal hernia, Abnormal dental enamel morphology, Camptodactyly of finger, Kyphosi... |
ORPHA:2273 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Diaphragmatic para... |
OMIM:232300 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Telangiecta... |
OMIM:175050 |
| Joubert Syndrome |
|
Encephalocele, Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration |
ORPHA:475 |
| Somatostatinoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... |
ORPHA:97283 |
| Apolipoprotein A-I Deficiency |
|
Atherosclerosis, Premature coronary artery atherosclerosis |
ORPHA:425 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Delayed closure of the anterior fontanelle, Large fontanelles, Gray matter heterotopia, Neonatal ... |
OMIM:614887 |
| Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia |
OMIM:619895 |
| Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia |
OMIM:615960 |
| Laryngotracheoesophageal Cleft |
|
Cyanosis |
ORPHA:2004 |
| Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Petechiae |
OMIM:602473 |
| Noonan Syndrome 10 |
|
Short neck, Pectus excavatum, Patent ductus arteriosus, Pectus carinatum, Coarctation of aorta, H... |
OMIM:616564 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia, Hydrocephalus, Vascular dilatation |
OMIM:219730 |
| Chromosome 5Q12 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:615668 |
| Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Arterial rupture, Dilatation of the cerebral artery, Platyspondyly, Scoliosis, Bruising susceptib... |
OMIM:612394 |
| Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Patent ductus arteriosus, Spinal canal s... |
OMIM:277600 |
| Blomstrand Lethal Chondrodysplasia |
|
Aplastic clavicle, Short thorax, Platyspondyly, Short ribs, Narrow chest, Broad clavicles |
ORPHA:50945 |
| Vascular Ehlers-Danlos Syndrome |
|
Joint dislocation, Congenital hip dislocation, Redundant skin, Osteoarthritis, Internal hemorrhag... |
ORPHA:286 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Omphalocele, Umbilical hernia |
ORPHA:2241 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Failure to thrive, Syndactyly, Spina bifida, Absent radius, Short thumb,... |
OMIM:192350 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodi... |
OMIM:259770 |
| Joubert Syndrome 30 |
|
Gray matter heterotopia |
OMIM:617622 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Ataxia, Kyphosis, Vocal cord paralysis, Clumsiness, Ankle clonus, Tongue fasciculations, Scoliosi... |
OMIM:211530 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Redundant skin, Congestive heart failure, Bronchiectasis, Cutis laxa, Mitra... |
OMIM:123700 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Heart block, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Cardiomyopathy, Arrhyt... |
ORPHA:228308 |
| Potocki-Shaffer Syndrome |
|
Wormian bones |
OMIM:601224 |
| Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... |
ORPHA:1596 |
| Vipoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... |
ORPHA:97282 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619909 |
| Yunis-Varon Syndrome |
|
Redundant neck skin, Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Microg... |
OMIM:216340 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dementia, Dystonia |
OMIM:272750 |
| Monosomy 9P |
|
Proximal placement of thumb, Micrognathia, Abnormality of the tarsal bones, Short neck, Postaxial... |
ORPHA:261112 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Joint stiffness, Split hand, Abnormal rib morpho... |
ORPHA:1300 |
| Vici Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum, Short stature, Cardiomyopathy |
ORPHA:1493 |
| Hyperoxaluria, Primary, Type I |
|
Cutis marmorata, Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Dehydration, Int... |
OMIM:259900 |
| Loeys-Dietz Syndrome 1 |
|
Micrognathia, Descending thoracic aorta aneurysm, Abnormal sternum morphology, Joint laxity, Arac... |
OMIM:609192 |
| Cerebrocostomandibular Syndrome |
|
Death in infancy, Spina bifida, Micrognathia, Tracheomalacia, Kyphosis, Myelomeningocele, Meningo... |
ORPHA:1393 |
| Pseudohypoaldosteronism Type 2 |
|
Hypertension, Periodic paralysis |
ORPHA:757 |
| Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Wormian bones, Abnormality of the knee, Abnormality of the ankle |
ORPHA:970 |
| Van Maldergem Syndrome 2 |
|
Inguinal hernia, Wide cranial sutures, Wide anterior fontanel, Subcortical band heterotopia, Grow... |
OMIM:615546 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Neuronal loss in central nervous system, Neurodegeneration |
OMIM:616239 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Telangiectasia of the skin, Micrognathia, Kyphosis, Osteoporosis, Lack of skin elasticity, Scolio... |
OMIM:615381 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Vascular ring |
OMIM:603387 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Short thorax, Short ribs, Narrow chest, Absent or minimally ossified vertebral bodies |
ORPHA:93271 |
| Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
| Foodborne Botulism |
|
Arrhythmia, Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:228371 |
| Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Joint laxity, Striae distensae, Hyperextensible skin, Bruising susceptibility, Petechiae |
OMIM:225310 |
| Gomez-Lopez-Hernandez Syndrome |
|
Wormian bones, Wide anterior fontanel, Short stature, Craniosynostosis |
OMIM:601853 |
| 16P13.11 Microdeletion Syndrome |
|
Short stature, Camptodactyly of finger, Abnormality of neuronal migration, Holoprosencephaly, Age... |
ORPHA:261236 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Elbow dislocation, Severe short stature, Large fontanelles, Delayed cranial suture closure |
ORPHA:2249 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Joint hypermobility, Thin ribs |
ORPHA:456328 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
| Choanal Atresia |
|
Cyanosis, Polydactyly |
ORPHA:137914 |
| Bronchogenic Cyst |
|
Back pain, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Abnormal lumbar sp... |
ORPHA:2357 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect |
OMIM:301039 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
| Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Nodular pattern on pulmonary HRCT, Hypermobility of distal interphalangeal joints, Hyperextensibl... |
OMIM:130050 |
| Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint dislocation, Generalized joint laxity, Hyperextensible skin, Ecchymosis, Microretrognathia,... |
OMIM:601776 |
| Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Intrauterine growth retardation, Abnormality of neuronal migration |
ORPHA:2518 |
| Japanese Encephalitis |
|
Hyperintensity of MRI T2 signal of the spinal cord, Weakness due to upper motor neuron dysfunctio... |
ORPHA:79139 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Prominent metopic ridge, Severe short stature, Multiple joint contractures, Camptodactyly of fing... |
ORPHA:468631 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Platyspondyly, Thoracolumbar scoliosis, Scoliosis, Short neck |
OMIM:616723 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Tapered finger, Large for gestational age, Hyperextensible skin, Tracheomalacia, Umbilical hernia... |
ORPHA:261652 |
| Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Dentinogenesis imperfecta, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619769 |
| Phace Syndrome |
|
Cerebral arteriovenous malformation, Coarctation of aorta, Aortic root aneurysm, Abnormal carotid... |
ORPHA:42775 |
| Myhre Syndrome |
|
Femoral hernia, Platyspondyly, Abnormal rib morphology, Inguinal hernia |
ORPHA:2588 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Prominent metopic ridge, Transient ischemic attack, Large fontanelles, Macrogyria, Growth delay, ... |
ORPHA:2995 |
| Transaldolase Deficiency |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... |
OMIM:606003 |
| Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Truncus arteriosus |
OMIM:617516 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormality of neuronal migration, Abnormal neuron morphology |
ORPHA:163681 |
| Acute Transverse Myelitis |
|
Back pain, Orthostatic hypotension, Subarachnoid hemorrhage, Paraparesis, Babinski sign, Parapleg... |
ORPHA:139417 |
| Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:218350 |
| Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:620184 |
| Fraser Syndrome 1 |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the sternum, Myelomeningoce... |
OMIM:219000 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Patent ductus arteriosus, Overriding aorta, Ventricular septal defect |
OMIM:617021 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent bronchitis |
OMIM:300455 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Periodic paralysis, Syncope, Palpitation... |
OMIM:170390 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect |
OMIM:602501 |
| Cerebrofacioarticular Syndrome |
|
Short stature, Dysplastic corpus callosum, Large fontanelles, Gray matter heterotopia, Pulmonic s... |
ORPHA:314679 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ventricular septal defect |
OMIM:613730 |
| Geleophysic Dysplasia 1 |
|
Osteopenia, Tricuspid stenosis, Camptodactyly of finger, Coxa valga, Pectus excavatum, Congestive... |
OMIM:231050 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Retinal hem... |
OMIM:175780 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect,... |
ORPHA:329224 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Prominent metopic ridge, Diastasis recti, Large fontanelles, Cardiomyopathy |
OMIM:130650 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Cyanosis, Clubbing |
ORPHA:747 |
| X-Linked Adrenoleukodystrophy |
|
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis |
ORPHA:43 |
| 3P25.3 Microdeletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor... |
ORPHA:435638 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Pulmonary artery atresia, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis |
ORPHA:1908 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus, Abnormality of neuronal migration |
ORPHA:2318 |
| Filippi Syndrome |
|
Ventricular septal defect |
OMIM:272440 |
| Lcat Deficiency |
|
Atherosclerosis, Premature coronary artery atherosclerosis |
ORPHA:650 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:615491 |
| Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
| Poliomyelitis |
|
Paralysis, Paraparesis, Hypertension, Hypovolemic shock, Hyperkinetic movements, Fasciculations, ... |
ORPHA:2912 |
| Hutchinson-Gilford Progeria Syndrome |
|
Precocious atherosclerosis, Premature coronary artery atherosclerosis |
OMIM:176670 |
| Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:230800 |
| Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Sacral dimple, Redundant neck skin, Broad hallux, Wide anterior fontanel, Hand polyda... |
OMIM:239710 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Inguinal hernia, Scoliosis, Umbilical hernia, Butterfly vertebrae, Unilateral chest ... |
OMIM:308205 |
| Lowry-Wood Syndrome |
|
Platyspondyly |
ORPHA:1824 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
| Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Pneumonia, Eosinophilia, Hydrocephalus, Vasculitis, Osteolysis, Abno... |
ORPHA:228123 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Short stature, Patent ductus arteriosus, Gray matter heterotopia, Coronar... |
OMIM:620024 |
| Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
| Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Short neck, Flexion contracture, Narrow chest, Agenesis of corpus callosum, Dandy-W... |
OMIM:264090 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint dislocation, Tricuspid regurgitation, Short stature, Periventricular heterotopia, Patent du... |
OMIM:618870 |
| Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Right ventricular failure, Increased pulmonary vascular resistance, Hypoxemia, Clubbing... |
ORPHA:60025 |
| Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... |
OMIM:616726 |
| Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:263630 |
| Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
| Charge Syndrome |
|
Aortic arch aneurysm, Aqueductal stenosis, Patent ductus arteriosus, Abnormal tibia morphology, A... |
ORPHA:138 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis |
OMIM:261680 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:452 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Patent ductus arteriosus, Coarctation of a... |
OMIM:617260 |
| Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle |
OMIM:619725 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
| Curry-Jones Syndrome |
|
Bicoronal synostosis, Lipomyelomeningocele, Wormian bones, Occipital meningocele, Polymicrogyria,... |
OMIM:601707 |
| Ablepharon Macrostomia Syndrome |
|
Growth delay, Umbilical hernia, Omphalocele, Camptodactyly of finger |
ORPHA:920 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Transient ischemic attack, Thoracic aortic aneurysm, Hyperlordosis, Abnormal internal carotid art... |
ORPHA:365 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Atrioventricular canal defect, Persistent left superior vena cava, Transposition of... |
OMIM:314390 |
| Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis |
OMIM:615294 |
| Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Osteoarthritis, Generalized joint laxity, Shoulder dislocation, Hyperextensible skin,... |
ORPHA:287 |
| Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Edema, Periorbital edema, Myocar... |
ORPHA:221 |
| Familial Thyroid Dyshormonogenesis |
|
Large posterior fontanelle, Umbilical hernia, Bradycardia, Delayed cranial suture closure |
ORPHA:95716 |
| Tangier Disease |
|
Accelerated atherosclerosis, Coronary artery stenosis, Left ventricular hypertrophy, Carotid arte... |
ORPHA:31150 |
| 9Q21.13 Microdeletion Syndrome |
|
Postnatal growth retardation, Gray matter heterotopia, Craniosynostosis |
ORPHA:531151 |
| Manitoba Oculotrichoanal Syndrome |
|
Omphalocele |
OMIM:248450 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Polyhydramnios |
ORPHA:98914 |
| Congenital Myasthenic Syndrome |
|
Cyanosis, Polyhydramnios |
ORPHA:590 |
| Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Vasculitis, Ascending tubular aorta a... |
ORPHA:2331 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis |
OMIM:617877 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Pulmonary a... |
ORPHA:2255 |
| Fraser Syndrome |
|
Encephalocele, Omphalocele, Myelomeningocele, Vertebral segmentation defect, Umbilical hernia |
ORPHA:2052 |
| Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Bifid sternum, Supraumbilical raphe, Coarctation of aorta |
OMIM:140850 |
| Glossopharyngeal Neuralgia |
|
Vocal cord paralysis, Jaw claudication, Syncope, Bradycardia, Abnormality of the cervical spine, ... |
ORPHA:221098 |
| Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Delayed skeletal maturation, Patellar aplas... |
OMIM:613804 |
| Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Intrauterine growth retardation, Subdural hemorrhage |
OMIM:619714 |
| Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary s... |
OMIM:618280 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Inguinal hernia, Portal hypertension, Hydrocephalus, Abnormality of neur... |
ORPHA:1454 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Redundant neck skin, Micrognathia, Short neck, Pancreatic lymphangiectasis, Postaxial hand polyda... |
ORPHA:1655 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Prominent superficial veins, Decreased adipose tiss... |
OMIM:608612 |
| Craniosynostosis 2 |
|
Craniosynostosis, Unicoronal synostosis, Metopic synostosis, Wormian bones, Bicoronal synostosis |
OMIM:604757 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Pulmonary arterial hypertension, Cyanosis, Clubbing |
OMIM:610913 |
| Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
| Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
| Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Prominent superficial veins, Short stature, Growth delay, Ri... |
OMIM:619322 |
| Diamond-Blackfan Anemia 7 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal ... |
OMIM:612562 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Joint hypermobility, Hyperextensible skin, Joint subluxation, Soft skin, Bruising susceptibility,... |
OMIM:606408 |
| Coffin-Siris Syndrome 6 |
|
Wormian bones, Short stature |
OMIM:617808 |
| Glucagonoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... |
ORPHA:97280 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations, Periodic paralysis |
OMIM:188580 |
| Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... |
OMIM:160980 |
| Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve |
OMIM:617450 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Paralysis |
ORPHA:83601 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Intrauterine growth retardation |
ORPHA:436252 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Micrognathia, Abnormal curvature of the vertebral column, Abnormality of the cervical spine, Join... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Micrognathia, Abnormal curvature of the vertebral column, Abnormality of the cervical spine, Join... |
ORPHA:353277 |
| Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Aplastic clavicle, Micrognathia, Elbow dislocation, Craniosynostosis, De... |
ORPHA:2554 |
| Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension, Optic nerve compression |
ORPHA:199244 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Hypertension, Lateral ventricle dilatation, Cerebral atrophy |
OMIM:300896 |
| Acrocardiofacial Syndrome |
|
Mitral stenosis, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Truncus a... |
ORPHA:2008 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Tachycardia, Periodic paralysis |
OMIM:613239 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, P... |
OMIM:612582 |
| Congenital Disorder Of Deglycosylation 2 |
|
Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Genu recurvatum |
OMIM:619775 |
| Fragile X Syndrome |
|
Periventricular heterotopia |
OMIM:300624 |
| Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis, Hypertension |
OMIM:145260 |
| Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect |
ORPHA:398156 |
| Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Mitra... |
OMIM:300166 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Pericardial effusion, Ventricular septal defect, Hypertrophic cardiomyopathy, Persistent left sup... |
OMIM:618775 |
| Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:614261 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Ataxia, Spastic tetraparesis, Myelopathy, Abnormal spinal cord morphology,... |
ORPHA:139396 |
| Charge Syndrome |
|
Omphalocele, Down-sloping shoulders, Abnormal rib morphology, Hemivertebrae, Scoliosis, Umbilical... |
OMIM:214800 |
| Desbuquois Syndrome |
|
Ventricular septal defect |
ORPHA:1425 |
| Osteogenesis Imperfecta, Type Xii |
|
Wormian bones, Short stature, Dentinogenesis imperfecta |
OMIM:613849 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Wormian bones, Short stature |
ORPHA:2788 |
| Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Erythema, Abnormal rib mo... |
ORPHA:2907 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... |
ORPHA:508533 |
| Insulin-Like Growth Factor I Deficiency |
|
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration |
OMIM:608747 |
| Lateral Meningocele Syndrome |
|
Prominent metopic ridge, Inguinal hernia, Meningocele, Wormian bones, Umbilical hernia |
ORPHA:2789 |
| Lessel-Kreienkamp Syndrome |
|
Patent ductus arteriosus, Wide cranial sutures, Pulmonic stenosis |
OMIM:619149 |
| Cat Eye Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... |
OMIM:115470 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Abnormal cerebral vascular morphology, Micrognathia, Reduced bone mineral... |
ORPHA:79474 |
| Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Cerebral palsy, Congestive heart failure, Hypertonia, Fasciculat... |
ORPHA:682 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... |
OMIM:618748 |
| Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Short humerus, Anomalous rib insertion to vertebrae,... |
OMIM:117650 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Pneumonia, Absent frontal sinuses, Atelectasis, Bronchiectasis, Recu... |
OMIM:244400 |
| Joubert Syndrome 18 |
|
Ventricular septal defect |
OMIM:614815 |
| Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
| Serkal Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
ORPHA:139466 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Cutis laxa |
OMIM:270420 |
| Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Hypoplastic pulmonary veins |
OMIM:618021 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hypertrophic cardiomyopathy, Coronary artery atherosclerosis, Prominent veins on trunk, Atheroscl... |
ORPHA:79083 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertrophic cardiomyopathy, Coronary artery atherosclerosis, Atherosclerosis |
ORPHA:2348 |
| Tyshchenko Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:615102 |
| Acromelic Frontonasal Dysostosis |
|
Encephalocele, Tubulonodular pericallosal lipoma, Dilation of Virchow-Robin spaces, Patellar hypo... |
OMIM:603671 |
| Gastrocutaneous Syndrome |
|
Coronary artery atherosclerosis |
ORPHA:2069 |
| Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax... |
ORPHA:2929 |
| Marfan Syndrome |
|
Genu recurvatum, Equinus calcaneus, Micrognathia, Flexion contracture, Pectus carinatum, Emphysem... |
OMIM:154700 |
| Alkuraya-Kucinskas Syndrome |
|
Hydrocephalus, Gray matter heterotopia, Lissencephaly, Camptodactyly, Arthrogryposis multiplex co... |
OMIM:617822 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:2256 |
| Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
| 8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Short neck, Limitation ... |
ORPHA:178303 |
| Autosomal Dominant Centronuclear Myopathy |
|
Miscarriage, Large for gestational age, Thin ribs |
ORPHA:169189 |
| Specc1L-Related Hypertelorism Syndrome |
|
Pectus excavatum, Umbilical hernia, Omphalocele |
ORPHA:1519 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Spasticity, Vocal cord paralysis, Myoclonus, Scoliosis |
ORPHA:500144 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Tapered finger, Hyperlordosis, Hip dislocation, Obesity, Genu valgum, Hip dysplasia, Umbilical he... |
OMIM:301066 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Flexion contracture, Limitation of joint mobility, Lack of s... |
ORPHA:90153 |
| Restrictive Dermopathy |
|
Osteopenia, Multiple joint contractures, Micrognathia, Scaling skin, Decreased skull ossification... |
ORPHA:1662 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
| Emanuel Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, At... |
OMIM:609029 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Pectus excavatum, Atelectasis, Pulmonary fibrosis, Brain atroph... |
OMIM:618278 |
| Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula... |
OMIM:613001 |
| Velocardiofacial Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Tetralogy of Fallot... |
OMIM:192430 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90674 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Horizontal inferior border of scapula, Platyspondyly, Anterior rib cupping |
OMIM:102700 |
| Suleiman-El-Hattab Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:618950 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Atelecta... |
OMIM:610978 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Short attention span, Exaggerated startle response |
OMIM:617864 |
| Ellis Van Creveld Syndrome |
|
Micromelia, Capitate-hamate fusion, Delayed skeletal maturation, Short thorax, Genu valgum, Aplas... |
ORPHA:289 |
| Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608572 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:151660 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Small for gestational age, Portal hypertension, Pectus excavatum, Delay... |
OMIM:613658 |
| Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology |
ORPHA:494 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Exaggerated startle response, Dystonia |
ORPHA:438216 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Cerebral atrophy, Neuronal loss in central nervous system, Atrophy/Degenerati... |
ORPHA:314404 |
| Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Incoordination, Ataxia, Slurred speech, In... |
ORPHA:90062 |
| Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia, Respiratory paralysis, Paralysis |
OMIM:176000 |
| Barber-Say Syndrome |
|
Failure to thrive, Hyperextensible skin, Redundant skin |
ORPHA:1231 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hypercholesterolemia, Hyperlipidemia |
OMIM:248370 |
| Lafora Disease |
|
Lafora bodies |
ORPHA:501 |
| Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Uterine leiomyoma, Thyroid adenoma |
OMIM:617100 |
| Okamoto Syndrome |
|
Omphalocele, Severe postnatal growth retardation, Aortic valve stenosis, Prominent metopic ridge |
ORPHA:2729 |
| Aase-Smith Syndrome I |
|
Ventricular septal defect |
OMIM:147800 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
| Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Inguinal hernia, Short stature, Patent ductus arteriosus, Premature osteoar... |
OMIM:611962 |
| Tick-Borne Encephalitis |
|
Back pain, Speech apraxia, Incoordination, Paralysis, Tremor, Hyperkinetic movements, Tongue fasc... |
ORPHA:297 |
| Radio-Tartaglia Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619312 |
| Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... |
ORPHA:1359 |
| Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
| Axenfeld-Rieger Syndrome |
|
Redundant skin |
ORPHA:782 |
| Spondyloocular Syndrome |
|
Shield chest, Vertebral compression fracture, Platyspondyly, Pectus carinatum |
OMIM:605822 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Joint laxity, Myelofibrosis, Large for gestational age, Short neck, Abnorma... |
OMIM:607721 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... |
ORPHA:90041 |
| Barber-Say Syndrome |
|
Brachydactyly, Redundant skin, Micrognathia, Talipes equinovarus, Clinodactyly of the 5th finger,... |
OMIM:209885 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Ventricular septal defect |
OMIM:616651 |
| Genitopatellar Syndrome |
|
Hip contracture, Congenital hip dislocation, Micrognathia, Patellar aplasia, Inferior pubic ramus... |
OMIM:606170 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Periodic paralysis |
OMIM:170400 |
| Orofaciodigital Syndrome Xvi |
|
Gray matter heterotopia, Inguinal hernia |
OMIM:617563 |
| Grant Syndrome |
|
Wormian bones |
OMIM:138930 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Tricuspid regurgitation, Agenesis of corpus callosum, Coarctation of aorta, Periventricular heter... |
OMIM:618929 |
| Gabriele-De Vries Syndrome |
|
Hallux valgus, Small for gestational age, Sandal gap, Decreased response to growth hormone stimul... |
ORPHA:506358 |
| Encephalocraniocutaneous Lipomatosis |
|
Paralysis, Rigidity, Tetraplegia, Coarctation of aorta, Hemiparesis, Hypertonia, Aortic valve ste... |
ORPHA:2396 |
| Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... |
OMIM:121050 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Thickened ribs, Camptodactyly of finger, Flexion contracture, Peripheral arterial s... |
ORPHA:217085 |
| Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Conotruncal defect |
ORPHA:40366 |
| Adrenomyeloneuropathy |
|
Back pain, Atrophy of the spinal cord, Abnormal spinal cord morphology, Babinski sign, Progressiv... |
ORPHA:139399 |
| Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve |
OMIM:618027 |
| Silver-Russell Syndrome 1 |
|
Intrauterine growth retardation, Delayed cranial suture closure |
OMIM:180860 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Conotruncal defect, Coarctation of aorta, Abnormal cardiac septum morphology, Aortic valve stenos... |
ORPHA:96147 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... |
OMIM:615474 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology |
ORPHA:369891 |
| Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Paralysis, Tremor, Shortened PR interval, Tetraplegia, Impaired myocardial... |
ORPHA:79102 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Thickened ribs, Camptodactyly of finger, Flexion contracture, Peripheral arterial s... |
ORPHA:217093 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Wide anterior fontanel, Congestive heart failure, Gray matter heterotopia, Cardiomyopathy, Arrhyt... |
ORPHA:26791 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia |
ORPHA:275761 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Ventricular septal defect |
OMIM:612938 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
| Familial Thrombocytosis |
|
Peripheral arterial stenosis, Transient ischemic attack |
ORPHA:71493 |
| Cutis Marmorata Telangiectatica Congenita |
|
Arteriovenous malformation, Patent ductus arteriosus, Arterial stenosis |
ORPHA:1556 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Atelectasis, Hypersensitivity pneumonitis, Hypereosinophilia, Weight loss, Pleural effusion |
ORPHA:2902 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:220500 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Tricuspid regurgitation, Sandal gap, Delayed cranial suture closure, Decreased fibula... |
OMIM:619127 |
| Friedreich Ataxia 2 |
|
Abnormal EKG, Incoordination, Abnormality of the dorsal column of the spinal cord, Ataxia, Conges... |
OMIM:601992 |
| Ritscher-Schinzel Syndrome 2 |
|
Patent ductus arteriosus, Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal d... |
OMIM:300963 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Severe short stature, Large fontanelles, Coarctation of aorta, Aortic valve stenosis, Spina bifid... |
ORPHA:2780 |
| Glioblastoma |
|
Paralysis |
ORPHA:360 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Pulmonary artery stenosis, Ventricular septal defect |
OMIM:611812 |
| Antisynthetase Syndrome |
|
Aortic regurgitation, Joint dislocation, Recurrent respiratory infections, Telangiectasia of the ... |
ORPHA:81 |
| Meconium Aspiration Syndrome |
|
Atelectasis, Pneumothorax, Abnormal heart rate variability, Aspiration pneumonia, Pulmonary arter... |
ORPHA:70588 |
| King-Denborough Syndrome |
|
Ventricular septal defect |
OMIM:619542 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614576 |
| Lujo Hemorrhagic Fever |
|
Shock, Stiff neck, Excessive bleeding after a venipuncture, Myocarditis, Atelectasis, Subconjunct... |
ORPHA:319213 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Death in infancy, Hypertrophic cardiomyopathy, Redundant neck skin |
OMIM:611719 |
| Lymphedema-Distichiasis Syndrome |
|
Varicose veins, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:153400 |
| 15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
| Pycnodysostosis |
|
Persistent open anterior fontanelle, Rhizomelia, Disproportionate short-limb short stature, Wormi... |
ORPHA:763 |
| Seckel Syndrome 9 |
|
Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect |
OMIM:616777 |
| Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect |
OMIM:619980 |
| Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Interrupted aortic arch |
OMIM:616920 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:52055 |
| Tenorio Syndrome |
|
Raynaud phenomenon, Hydrocephalus, Syncope, Delayed cranial suture closure |
OMIM:616260 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect |
OMIM:617635 |
| Townes-Brocks Syndrome |
|
Broad hallux phalanx, Failure to thrive, Toe syndactyly, Abnormal vertebral morphology, Preaxial ... |
ORPHA:857 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Hypoxemia, Cyanosis, Clubbing |
OMIM:610921 |
| Ververi-Brady Syndrome |
|
Transposition of the great arteries |
OMIM:617982 |
| Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Tremor, Dystonia, Memory impairment, Laryngea... |
ORPHA:845 |
| Osteoglophonic Dysplasia |
|
Inguinal hernia, Hypoplastic scapulae, Camptodactyly of finger, Short neck, Pectus excavatum, Pla... |
OMIM:166250 |
| Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:614961 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617061 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:457193 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:77298 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hypertrophic cardiomyopathy, Cyanosis, Concentric hypertrophic cardiomyopathy, Cerebral edema |
OMIM:252010 |
| Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect... |
ORPHA:2473 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Orthostatic hypotension, Acrocyanosis, Tachycardia |
OMIM:223900 |
| Fanconi Anemia, Complementation Group B |
|
Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta |
OMIM:300514 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thin bony cortex, Increased intervertebral space, Broad ischia, Diaphyseal... |
OMIM:619727 |
| Adrenoleukodystrophy |
|
Neurodegeneration |
OMIM:300100 |
| Acute Disseminated Encephalomyelitis |
|
Ataxia, Involuntary movements, Abnormal spinal cord morphology, Diaphragmatic paralysis, Abnormal... |
ORPHA:83597 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
| Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Patent ductus arteriosus, Ascending tu... |
OMIM:601808 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Hip contracture, Wide cranial sutures, Short stature, Protrusio acetabuli, Interphalangeal joint ... |
OMIM:259600 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia |
ORPHA:79259 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Platyspondyly, Dentinogenesis imperfecta, Scoliosis |
OMIM:619269 |
| Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:615879 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Hypertrophic cardiomyopathy, Flexion contracture, Delayed cranial suture closure |
OMIM:619383 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
| Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Nephrogenic diabetes insipidus, Abnormality of the ovary, Hypogonadism, Vagina... |
OMIM:209900 |
| Sandhoff Disease |
|
Exaggerated startle response, Progressive psychomotor deterioration |
OMIM:268800 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Ventricular septal defect |
OMIM:617452 |
| Pallister-Killian Syndrome |
|
Omphalocele, Inguinal hernia, Congenital hip dislocation, Rhizomelia, Congenital diaphragmatic he... |
OMIM:601803 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:615630 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
| Primary Hyperoxaluria |
|
Cutis marmorata, Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermitten... |
ORPHA:416 |
| Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
| Ablepharon-Macrostomia Syndrome |
|
Short metacarpal, Toe syndactyly, Redundant skin, Cutaneous finger syndactyly, Talipes equinovaru... |
OMIM:200110 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Kyphoscoliosis, Tremor, Vocal cord paralysis, Poor fine motor coordination, Scoliosis |
ORPHA:99956 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Coarctation of aorta |
OMIM:617602 |
| Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Wormian bones, Bruising susceptibility, Dentinogenesis imperfecta, Aortic aneurysm |
OMIM:166200 |
| Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
| Myasthenia Gravis |
|
Raynaud phenomenon, Acrocyanosis |
ORPHA:589 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Neurodegeneration |
OMIM:615919 |
| Kleefstra Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Pulmonary artery stenosis, Coarctation of aorta... |
ORPHA:261494 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:208085 |
| Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:494344 |
| Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Joint laxity, Drumstick terminal phalanges, Hyperextensible skin, Soft, doughy skin, Dermal trans... |
ORPHA:541423 |
| Meckel Syndrome, Type 4 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:611134 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Ataxia, Paralysis, Hypertonia, Myoclonus, Scoliosis, Tetraparesis |
OMIM:203700 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Neurodegeneration |
OMIM:606159 |
| Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypoplastic left hea... |
OMIM:100300 |
| Bronchial Neuroendocrine Tumor |
|
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Pulmonary ca... |
ORPHA:97287 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Prominent metopic ridge, Sagittal craniosynostosis, Craniosynostosis, Growth delay, Gray matter h... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Prominent metopic ridge, Sagittal craniosynostosis, Craniosynostosis, Growth delay, Gray matter h... |
ORPHA:352665 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Micrognathia, Short foot, Joint hyperflexibility, Hype... |
ORPHA:1974 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:505237 |
| Neuromuscular Oculoauditory Syndrome |
|
Knee flexion contracture, Wrist flexion contracture, Agenesis of corpus callosum, Periventricular... |
OMIM:618733 |
| Hajdu-Cheney Syndrome |
|
Inguinal hernia, Short stature, Patent ductus arteriosus, Hydrocephalus, Genu valgum, Crowded car... |
OMIM:102500 |
| White-Sutton Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Patent ductus arteriosus, Wormian bones, Intraute... |
OMIM:616364 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Junctional ectopic tachycardia, Hydrocephalus, Colpocephaly, Histiocytoid cardi... |
OMIM:309801 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Vocal cord paralysis, Carotid paraganglioma, Palpitations, Hypertension associated w... |
OMIM:168000 |
| Familial Dysautonomia |
|
Hypertension, Orthostatic hypotension, Acrocyanosis, Tachycardia |
ORPHA:1764 |
| Pelger-Huet Anomaly |
|
Ventricular septal defect |
OMIM:169400 |
| Orofaciodigital Syndrome I |
|
Short stature, Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Gray matter heterotop... |
OMIM:311200 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Atrial septal defect, Pulmonary artery stenosis, Dilation of Virchow-Robin spaces, Ventricular se... |
OMIM:300998 |
| 19P13.3 Microduplication Syndrome |
|
Ventricular septal defect |
ORPHA:447980 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Prominent metopic ridge, Craniosynostosis, Gray matter heterotopia, Ascending tubular aorta aneur... |
ORPHA:453499 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect |
OMIM:309520 |
| Kapur-Toriello Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:244300 |
| Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
| Noonan Syndrome 4 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:610733 |
| Osteogenesis Imperfecta, Type Xi |
|
Wormian bones, Dentinogenesis imperfecta, Short stature, Protrusio acetabuli |
OMIM:610968 |
| Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Vocal cord paralysis, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos... |
OMIM:253800 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Ankle flexion contracture, Patent ductus arteriosus, Abnormality of neurona... |
ORPHA:464311 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Kury-Isidor Syndrome |
|
Ventricular septal defect |
OMIM:619762 |
| Gitelman Syndrome |
|
Prolonged QT interval, Ataxia, Paralysis, Ventricular tachycardia, Palpitations, Hypotension |
OMIM:263800 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormal vena cava morphology, Ventricular septal defect |
ORPHA:166035 |
| Codas Syndrome |
|
Ventricular septal defect |
ORPHA:1458 |
| Cdags Syndrome |
|
Sagittal craniosynostosis, Large fontanelles, Lambdoidal craniosynostosis, Coronal craniosynostos... |
OMIM:603116 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Hydrocephalus, Pneumo... |
ORPHA:538 |
| Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Pulmonary edema |
OMIM:267450 |
| Alg11-Cdg |
|
Gray matter heterotopia |
ORPHA:280071 |
| Aapoaiv Amyloidosis |
|
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Coronary artery atherosclerosis |
ORPHA:439232 |
| Mosaic Trisomy 16 |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Coarctation of ao... |
ORPHA:1708 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gray matter heterotopia |
OMIM:618797 |
| Myopathy With Extrapyramidal Signs |
|
Ventricular septal defect |
OMIM:615673 |
| Mucopolysaccharidosis Type 2 |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi... |
ORPHA:580 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis, Coarctation of aorta |
OMIM:614114 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Right ventricular hypertrophy |
OMIM:613404 |
| Papillorenal Syndrome |
|
Joint laxity, Hypertension, Hyperextensible skin, Scoliosis, Soft skin |
OMIM:120330 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort... |
OMIM:617506 |
| Dubowitz Syndrome |
|
Short stature, Craniosynostosis, Postnatal growth retardation, Wide anterior fontanel, Hydrocepha... |
ORPHA:235 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Abnormal cardiomyocyte morphology, Cardiomyopathy, Renal artery atherosclerosis, Coronary artery ... |
ORPHA:565612 |
| Holt-Oram Syndrome |
|
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... |
OMIM:142900 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect |
OMIM:616901 |
| Frontotemporal Dementia |
|
Frontal lobe dementia, Frontotemporal dementia, Amyotrophic lateral sclerosis, Dementia |
OMIM:600274 |
| Pmm2-Cdg |
|
Osteopenia, Joint laxity, Pericarditis, Dandy-Walker malformation, Angina pectoris, Multiple join... |
ORPHA:79318 |
| Sotos Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Muscular ventricular s... |
OMIM:117550 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly, Gray matter het... |
OMIM:615287 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Precocious atherosclerosis, Hypertrophic cardiomyopathy, Coronary ar... |
ORPHA:280365 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Neurodegeneration |
ORPHA:79244 |
| Somatomammotropinoma |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... |
ORPHA:314769 |
| Aspartylglucosaminuria |
|
Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Hernia, Beaking of vertebral bodies, Spondylol... |
OMIM:208400 |
| Dysostosis, Stanescu Type |
|
Wormian bones, Persistent open anterior fontanelle, Short stature, Abnormal dental enamel morphology |
ORPHA:1798 |
| Inhalational Botulism |
|
Paralysis |
ORPHA:254504 |
| Insulin-Like Growth Factor I, Resistance To |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:270450 |
| Noonan Syndrome 3 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr... |
OMIM:609942 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef... |
OMIM:235510 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paralysis |
OMIM:612300 |
| Chromosome 15Q25 Deletion Syndrome |
|
Coronary artery fistula, Abnormal cardiac septum morphology, Ventricular septal defect, Dextrocardia |
OMIM:614294 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Neurodegeneration, Cerebral atrophy |
OMIM:618321 |
| Silver-Russell Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Short stature, Delayed cranial sut... |
ORPHA:813 |
| Autoimmune Hypoparathyroidism |
|
Coronary artery atherosclerosis |
ORPHA:36913 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Tricuspid regurgitation, Atelectasis, Bronchiectasis, Abnormal pulmonary interstitial morphology,... |
OMIM:620233 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:106260 |
| Hajdu-Cheney Syndrome |
|
Inguinal hernia, Short stature, Mitral stenosis, Hydrocephalus, Patent ductus arteriosus, Patella... |
ORPHA:955 |
| Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect |
OMIM:610832 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Gray matter heterotopia |
OMIM:608624 |
| Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis |
ORPHA:922 |
| Congenital Tracheal Stenosis |
|
Cyanosis, Fetal ascites, Polyhydramnios, Oligohydramnios |
ORPHA:141127 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:300472 |
| Zygomycosis |
|
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Hematemesis, Myocarditis, Atelectasis, Pneu... |
ORPHA:73263 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis |
OMIM:242100 |
| Syndromic Diarrhea |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:84064 |
| Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:619123 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Recurrent respiratory infections, Sacral dimple, Tapered finger, Hyperlordosis, Long fingers, Sho... |
OMIM:619950 |
| Bilateral Perisylvian Polymicrogyria |
|
Flexion contracture, Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal mig... |
ORPHA:98889 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia |
ORPHA:3348 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Patent ductus arteriosus, Postaxial hand polydactyly, Aplasia of the epigl... |
OMIM:617088 |
| 19P13.12 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:254346 |
| Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Erythema, Abnormal rib morphology, Flexion contractur... |
ORPHA:2908 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Severe short stature, Dislocation of the femoral head, Knee flexion contracture,... |
OMIM:210730 |
| Marshall Syndrome |
|
Platyspondyly |
OMIM:154780 |
| Congenital Disorder Of Glycosylation, Type It |
|
Ventricular septal defect, Dilated cardiomyopathy, Cardiomegaly, Coarctation of aorta |
OMIM:614921 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Atrial septal defect, Pa... |
ORPHA:26793 |
| Unilateral Polymicrogyria |
|
Cyanosis, Epistaxis |
ORPHA:268943 |
| Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Short stature, Camptodactyly of finger, Hypotension, Arrhythmia, Dela... |
ORPHA:2135 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Mitral valve prolapse, Varicos... |
OMIM:602782 |
| Filippi Syndrome |
|
Ventricular septal defect |
ORPHA:3255 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Periodic hypokalemic paresis |
ORPHA:684 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Arterial dissection, Wormian bones, Abnormality of the wrist, Venous insuffici... |
ORPHA:285 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Neurodegeneration, Cerebral atrophy |
OMIM:616878 |
| Keutel Syndrome |
|
Miscarriage, Recurrent bronchitis, Short hallux, Costal cartilage calcification, Premature fusion... |
OMIM:245150 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Cognitive impairment |
OMIM:617527 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:1770 |
| Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
| Osteogenesis Imperfecta, Type Xx |
|
Wormian bones, Intrauterine growth retardation, Disproportionate short-limb short stature |
OMIM:618644 |
| Orofaciodigital Syndrome V |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:174300 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Severe postnatal growth retardation, Short stature, Delayed cranial suture closure |
OMIM:613038 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Tapered finger, Short thumb, Colpocephaly, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:477993 |
| X Small Rings |
|
Ventricular septal defect, Aortic root aneurysm, Mitral stenosis, Bicuspid aortic valve |
ORPHA:96201 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
| Postinfectious Vasculitis |
|
Cerebral vasculitis, Palpable purpura, Cutis marmorata, Raynaud phenomenon, Cardiomyopathy, Hyper... |
ORPHA:48435 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Large posterior fontanelle, Tarsal synostosis, Abnormal dental enamel morphology, Wide anterior f... |
ORPHA:85199 |
| Kosaki Overgrowth Syndrome |
|
Hyperextensible skin, Thoracolumbar scoliosis, Scoliosis |
OMIM:616592 |
| Mohr Syndrome |
|
Wormian bones, Hydrocephalus, Short stature |
OMIM:252100 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis |
OMIM:617239 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Large posterior fontanelle, Pituitary dwarfism, Growth delay, Bradycardia, Umbilical hernia, Agen... |
ORPHA:226307 |
| Mucopolysaccharidosis, Type Ii |
|
Neurodegeneration |
OMIM:309900 |
| Aicardi-Goutières Syndrome |
|
Cutis marmorata, Tremor, Raynaud phenomenon, Prolonged neonatal jaundice, Dystonia, Hypertrophic ... |
ORPHA:51 |
| Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
| Vici Syndrome |
|
Postnatal growth retardation, Congestive heart failure, Dilated cardiomyopathy, Gray matter heter... |
OMIM:242840 |
| Loeys-Dietz Syndrome 5 |
|
Ventricular septal defect, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defec... |
OMIM:615582 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At... |
OMIM:610759 |
| Relapsing Polychondritis |
|
Pericarditis, Myocarditis, Atelectasis, Erythema, Limitation of joint mobility, Large vessel vasc... |
ORPHA:728 |
| Gitelman Syndrome |
|
Prolonged QT interval, Paralysis, Raynaud phenomenon, Low-to-normal blood pressure, Varicose vein... |
ORPHA:358 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Ataxia, Short neck, Irregular vertebral endplates, Platyspondyly, Posterior scalloping of vertebr... |
OMIM:610442 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
| Short Stature-Micrognathia Syndrome |
|
Ventricular septal defect |
OMIM:617164 |
| Orofaciodigital Syndrome Type 6 |
|
Growth delay, Short stature, Abnormality of neuronal migration |
ORPHA:2754 |
| Stickler Syndrome |
|
Abnormal dental enamel morphology, Kyphosis, Spinal canal stenosis, Abnormal form of the vertebra... |
ORPHA:828 |
| African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Abnormal central motor function, Involuntary movements, Paralysis, Tr... |
ORPHA:3385 |
| Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613309 |
| Acromegaly |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... |
ORPHA:963 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Recurrent fractures, Micrognathia, Pectus excavatum, Osteopetrosis, Pulmonary arterial hypertensi... |
ORPHA:2785 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610536 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary a... |
OMIM:620025 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616449 |
| Pitt-Hopkins Syndrome |
|
Tapered finger, Broad fingertip, Short metatarsal, Small hand, Finger clinodactyly, Acrocyanosis |
ORPHA:2896 |
| Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
|
Redundant neck skin, Small for gestational age, Proximal placement of thumb, Talipes equinovarus,... |
OMIM:604314 |
| Coffin-Siris Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmon... |
OMIM:614609 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Large fontanelles, Wide cranial sutures, Short stature |
OMIM:257850 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... |
OMIM:309000 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Delayed cranial suture closure |
ORPHA:1129 |
| Craniofacioskeletal Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch |
OMIM:300712 |
| 19Q13.11 Microdeletion Syndrome |
|
Ventricular septal defect |
ORPHA:217346 |
| Distal Deletion 19P |
|
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Portal hypertension, Craniosynostosis, Patent ductus arteriosus, Absence of subcutaneous fat, Sev... |
OMIM:620005 |
| Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia |
ORPHA:96097 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Increased number of skin folds, Umbilical hernia, Congestive heart failure, Micrognathia |
ORPHA:2505 |
| Doors Syndrome |
|
Double outlet right ventricle |
ORPHA:79500 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
| Trisomy 10P |
|
Wide cranial sutures, Simplified gyral pattern, Growth delay, Camptodactyly, Intrauterine growth ... |
ORPHA:171929 |
| Periventricular Nodular Heterotopia 9 |
|
Prominent metopic ridge, Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrog... |
OMIM:618918 |
| Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Coarctation of aorta |
ORPHA:268249 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Aortic aneurysm |
ORPHA:261330 |
| Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:276300 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect |
OMIM:612530 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Inguinal hernia, Arteria lusoria, Delayed cranial suture closure, Heart murmur |
OMIM:618653 |
| Rubinstein-Taybi Syndrome 1 |
|
Short stature, Spina bifida, Postnatal growth retardation, Wide anterior fontanel, Patent ductus ... |
OMIM:180849 |
| Phelan-Mcdermid Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:606232 |
| Van Esch-O'Driscoll Syndrome |
|
Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect |
OMIM:301030 |
| Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
| Saethre-Chotzen Syndrome |
|
Proximal radio-ulnar synostosis, Short stature, Delayed cranial suture closure, Craniosynostosis |
ORPHA:794 |
| Chime Syndrome |
|
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... |
ORPHA:3474 |
| Digeorge Syndrome |
|
Pilonidal sinus, Micrognathia, Atelectasis, Patent ductus arteriosus, Recurrent pneumonia, Obesit... |
OMIM:188400 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:613457 |
| Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect, Coarctation of aorta |
OMIM:244450 |
| Pycnodysostosis |
|
Wormian bones, Persistent open anterior fontanelle, Short stature |
OMIM:265800 |
| Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Periodic paralysis, Melena, Prolonged prothrombin time, Hypertrophic... |
OMIM:276700 |
| Zellweger Syndrome |
|
Ventricular septal defect |
ORPHA:912 |
| Sponastrime Dysplasia |
|
Lumbar hyperlordosis, Kyphoscoliosis, Hyperconvex vertebral body endplates, Platyspondyly, Abnorm... |
ORPHA:93357 |
| Brain-Lung-Thyroid Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal cardiac septum morphology, Patent foram... |
ORPHA:209905 |
| Mgat2-Cdg |
|
Patent ductus arteriosus, Ventricular septal defect, Abnormal heart morphology |
ORPHA:79329 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short metacarpal, Redundant neck skin, Brachydactyly, Sacral dimple, Short neck, Short metatarsal... |
OMIM:617157 |
| Tako-Tsubo Cardiomyopathy |
|
Dilatation of the ventricular cavity, Coronary artery stenosis, Abnormal coronary artery morpholo... |
ORPHA:66529 |
| D-Bifunctional Protein Deficiency |
|
Polymicrogyria, Large fontanelles, Delayed cranial suture closure |
OMIM:261515 |
| Chediak-Higashi Syndrome |
|
Neurodegeneration |
OMIM:214500 |
| Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... |
OMIM:619268 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
| Multiple System Atrophy 1, Susceptibility To |
|
Neurodegeneration |
OMIM:146500 |
| Arima Syndrome |
|
Gray matter heterotopia, Occipital meningocele, Hypertension |
OMIM:243910 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cyanosis |
OMIM:618426 |
| Coffin-Siris Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def... |
ORPHA:1465 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Periventricular heterotopia, Partial agenesis of the corpus callosum, Pa... |
OMIM:615948 |
| Cerebellar-Facial-Dental Syndrome |
|
Ascending tubular aorta aneurysm, Ventricular septal defect, Mitral valve prolapse |
ORPHA:444072 |
| 7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Aortic valve stenosis,... |
ORPHA:96121 |
| Hand-Foot-Genital Syndrome |
|
Ventricular septal defect |
ORPHA:2438 |
| Trichohepatoenteric Syndrome 1 |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:222470 |
| 3Q29 Microduplication Syndrome |
|
Ventricular septal defect |
ORPHA:251038 |
| Neurofibromatosis Type 1 |
|
Arterial stenosis |
ORPHA:636 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Ventricular septal defect |
ORPHA:251028 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect |
OMIM:212066 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis, Brachydactyly |
ORPHA:293987 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Ventricular septal defect |
OMIM:617798 |
| Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Perimembranous ventricular septal defect, Ventricular septal defect |
OMIM:301040 |
| Diamond-Blackfan Anemia 1 |
|
Short stature, Tricuspid stenosis, Congestive heart failure, Coarctation of aorta, Intrauterine g... |
OMIM:105650 |
| Feingold Syndrome 1 |
|
Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus, Interrupted aortic arch,... |
OMIM:164280 |
| Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Short stature, Moderately short stature, Large fontanelles, ... |
OMIM:119600 |
| Cohen Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
ORPHA:193 |
| Limb Body Wall Complex |
|
Spina bifida, Abnormal spinal cord morphology, Abnormality of the vertebral column, Progressive c... |
ORPHA:2369 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:615503 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Short stature, Postnatal growth retardation, Growth delay, Intrauterine growth retardation, Delay... |
ORPHA:93325 |
| Leigh Syndrome |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
ORPHA:506 |
| Hardikar Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Partial anomalous... |
OMIM:301068 |
| Trichohepatoneurodevelopmental Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:618268 |
| Whim Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... |
ORPHA:51636 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Patent ductus arteriosus, Muscular ventricular septal defect, Coarctation ... |
OMIM:612474 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect |
OMIM:250410 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Patent ductus arteriosus, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| Pachydermoperiostosis |
|
Elevated circulating growth hormone concentration, Hyperhidrosis |
ORPHA:2796 |
| Amoebiasis Due To Free-Living Amoebae |
|
Hemiparesis, Abnormal spinal cord morphology, Ataxia, Arrhythmia |
ORPHA:68 |
| Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta |
OMIM:616145 |
| Renal Agenesis |
|
Ventricular septal defect |
ORPHA:411709 |
| 2Q31.1 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:251014 |
| Thauvin-Robinet-Faivre Syndrome |
|
Varicose veins, Ventricular septal defect, Mitral valve prolapse |
OMIM:617107 |
| Tbck-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
ORPHA:488632 |
| Rabson-Mendenhall Syndrome |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:769 |
| Nijmegen Breakage Syndrome |
|
Abnormality of neuronal migration |
ORPHA:647 |
| Omodysplasia 1 |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect |
OMIM:258315 |
| Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Ventricular septal defect |
OMIM:272950 |
| Coffin-Siris Syndrome 12 |
|
Short stature, Noncommunicating hydrocephalus, Heart murmur, Ridged cranial sutures, Radioulnar s... |
OMIM:619325 |
| Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Pleural effusion, Osteomyelitis, Recurrent pneumonia |
OMIM:306400 |
| Diamond-Blackfan Anemia |
|
Radial artery aplasia, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta... |
ORPHA:124 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Ventricular septal defect |
OMIM:619306 |
| Nijmegen Breakage Syndrome |
|
Neurodegeneration |
OMIM:251260 |
| Diets-Jongmans Syndrome |
|
Interrupted inferior vena cava with azygous continuation, Ventricular septal defect |
OMIM:618846 |
| Acrofacial Dysostosis 1, Nager Type |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:154400 |
| Opitz Gbbb Syndrome |
|
Ventricular septal defect |
OMIM:300000 |
| Oculodentodigital Dysplasia |
|
Ventricular septal defect |
ORPHA:2710 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis |
ORPHA:464306 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve, Abno... |
ORPHA:466791 |
| Trichothiodystrophy |
|
Cardiomyopathy, Ventricular septal defect |
ORPHA:33364 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Multiple joint contractures, Short neck, Shield chest, Irregular vertebral endplates, Platyspondy... |
ORPHA:99646 |
| Jacobsen Syndrome |
|
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
ORPHA:2308 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Abnorm... |
ORPHA:353281 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Cerebral degeneration, Neurodegeneration, Global brain atrophy |
OMIM:234200 |
| 8Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Hypo... |
ORPHA:508488 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Varicose veins, Abnormal right ventricle morphology, Ventricular septal defect, Mitral valve prol... |
ORPHA:500095 |
| Pick Disease Of Brain |
|
Neuronal loss in central nervous system |
OMIM:172700 |
| Distal Renal Tubular Acidosis |
|
Paralysis |
ORPHA:18 |
| Goodpasture Syndrome |
|
Cyanosis, Pulmonary hemorrhage |
OMIM:233450 |
| Meier-Gorlin Syndrome 7 |
|
Atrial septal defect, Complete atrioventricular canal defect, Ventricular septal defect |
OMIM:617063 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Atrial septal defect, Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal... |
ORPHA:3047 |
| Goldberg-Shprintzen Syndrome |
|
Ventricular septal defect |
OMIM:609460 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Ventricular septal defect |
OMIM:614653 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Neurodegeneration |
OMIM:619475 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:616975 |
| Ayme-Gripp Syndrome |
|
Pericarditis, Short stature, Radioulnar synostosis, Camptodactyly, Delayed cranial suture closure |
OMIM:601088 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Atrial septal defect, Dilatation of the ventricular cavity, Pulmonary artery stenosis, Ventricula... |
ORPHA:459070 |
| Ulnar-Mammary Syndrome |
|
Ventricular septal defect |
ORPHA:3138 |
| Marden-Walker Syndrome |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia, Abnormal anatomic location of th... |
ORPHA:2461 |
| Tetrasomy 9P |
|
Sacral dimple, Juxtaductal coarctation of the aorta, Pericarditis, Short neck, Raynaud phenomenon... |
ORPHA:3310 |
| Jacobsen Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:147791 |
| Arboleda-Tham Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Pulmonic sten... |
OMIM:616268 |
| Renpenning Syndrome 1 |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis |
OMIM:309500 |
| Primary Sjögren Syndrome |
|
Raynaud phenomenon, Abnormal spinal cord morphology, Vasculitis, Chorea, Arteritis, Purpura |
ORPHA:289390 |
| Noonan Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Atr... |
OMIM:163950 |
| Proteus Syndrome |
|
Abnormal dental enamel morphology, Sudden cardiac death, Pulmonary embolism, Craniosynostosis, Ab... |
ORPHA:744 |
| Fanconi Anemia, Complementation Group C |
|
Ventricular septal defect |
OMIM:227645 |
| Chand Syndrome |
|
Short fifth metatarsal, Atelectasis, Dry skin |
ORPHA:1401 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:261337 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Anomalous origin of l... |
ORPHA:438213 |
| Degcags Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Persistent left superior vena cava, Pulmonic... |
OMIM:619488 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect |
OMIM:301044 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Mental deterioration, Memory impairment, Frontotemporal dementia |
ORPHA:275864 |
| Mowat-Wilson Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Pulmonary artery stenosis, Patent ductus arter... |
OMIM:235730 |
| Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Transposition of the g... |
OMIM:256520 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Ventricular septal defect |
OMIM:619418 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic stenosis, A... |
ORPHA:363700 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic valve stenosis, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal h... |
ORPHA:268261 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:619525 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Right aortic arch, Ventricular septal defect |
ORPHA:513456 |
| Leprechaunism |
|
Large hands, Hyperextensible skin, Decreased body weight, Hypertrophic cardiomyopathy, Failure to... |
ORPHA:508 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Ventricular septal defect |
ORPHA:1071 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:608670 |
| Liver Disease, Severe Congenital |
|
Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of the ventricular c... |
OMIM:619991 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Periodic hypokalemic paresis |
OMIM:259730 |
| Saethre-Chotzen Syndrome |
|
Short stature, Radioulnar synostosis, Lambdoidal craniosynostosis, Coronal craniosynostosis, Dela... |
OMIM:101400 |
| Pineoblastoma |
|
Paralysis |
ORPHA:251909 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Abnormal heart valve morphology, Cherry red spot of the macula, Coronary artery atherosclerosis |
ORPHA:77293 |
| Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:613884 |
| Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect |
ORPHA:1934 |
| Proboscis Lateralis |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:141099 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:619522 |
| Mowat-Wilson Syndrome |
|
Short stature, Pulmonary artery sling, Periventricular heterotopia, Patent ductus arteriosus, Fle... |
ORPHA:2152 |
| Townes-Brocks Syndrome 1 |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:107480 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... |
OMIM:149730 |
| Penile Agenesis |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:49 |
| Peters-Plus Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:261540 |
| Cornelia De Lange Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:199 |
| Sotos Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def... |
ORPHA:821 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Ventricular septal defect |
OMIM:620330 |
| Ulnar-Mammary Syndrome |
|
Ventricular septal defect |
OMIM:181450 |
| Johanson-Blizzard Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Dilated cardiomyopathy, Atrial septal defect, ... |
OMIM:243800 |
| Primrose Syndrome |
|
Neurodegeneration |
OMIM:259050 |
| Roberts-Sc Phocomelia Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:268300 |
| Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy |
ORPHA:154 |
| Acne Inversa, Familial, 3 |
|
|
OMIM:613737 |
