| Alopecia Areata 2 |
|
Alopecia totalis, Alopecia universalis, Alopecia of scalp, Patchy alopecia |
OMIM:610753 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Perifollicular hyperkeratosis, Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Alopecia |
ORPHA:505 |
| Alopecia Universalis Congenita |
|
Absent pubic hair, Absent eyelashes, Absent eyebrow, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
| Hypotrichosis Simplex |
|
Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia |
ORPHA:55654 |
| Hypotrichosis 4 |
|
Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia |
OMIM:146550 |
| Alopecia Areata 1 |
|
Patchy alopecia, Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis |
OMIM:104000 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia universalis, Alopecia |
OMIM:203650 |
| Hypotrichosis 11 |
|
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,... |
OMIM:615059 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia of scalp, Onychogryposis of toenails, Diffuse palmoplantar hyperkeratosis, Dystrophic to... |
OMIM:617294 |
| Griscelli Syndrome, Type 3 |
|
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair |
OMIM:609227 |
| Miller-Dieker syndrome (MDS) |
|
Microcephaly, Lissencephaly, Abnormal heart morphology, Frontal bossing |
DECIPHER:21 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Abnormal fingernail morphology, Sparse body hair, Sparse eyebrow, Sparse hair, Hypoplastic toenai... |
ORPHA:2722 |
| Genitopalatocardiac Syndrome |
|
Transposition of the great arteries, Right aortic arch, Cleft upper lip, Micrognathia, Cleft pala... |
OMIM:231060 |
| Trichodysplasia-Xeroderma Syndrome |
|
Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Dry skin, Sparse body hair, S... |
ORPHA:3361 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia |
OMIM:614928 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia of scalp, Alopecia |
OMIM:260910 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot |
OMIM:601127 |
| Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... |
ORPHA:93403 |
| Pierre Robin Syndrome |
|
Glossoptosis, Micrognathia, Pierre-Robin sequence, Cleft palate, Cor pulmonale |
OMIM:261800 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Atrial septal defect, Patent ductus arteriosus, Coronary artery fistula, Patent foramen ovale, Ve... |
OMIM:619343 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Nail dystrophy, Plantar hyperkeratosis, Alopecia |
OMIM:616487 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart |
OMIM:614474 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Nail dysplasia, Leukonychia, Hyperpigmentation of the skin, Brittle hair, Sparse eyebrow, Palmopl... |
OMIM:104100 |
| Hidrotic Ectodermal Dysplasia |
|
Nail dystrophy, Small nail, Generalized hypotrichosis, Sparse axillary hair, Sparse hair, Fine ha... |
ORPHA:189 |
| Monilethrix |
|
Perifollicular hyperkeratosis, Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair ... |
OMIM:158000 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Nail pits, Congenital alopecia totalis, Ridged nail |
ORPHA:169095 |
| Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... |
OMIM:214450 |
| Isolated Dandy-Walker Malformation |
|
Prominent occiput, Dandy-Walker malformation, Frontal bossing, Cleft palate, Tetralogy of Fallot,... |
ORPHA:217 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dysplasia, Nail dystrophy, Facial erythema, Hyperkeratosis, Dry skin, Palmoplantar hyperkera... |
OMIM:212360 |
| Ferguson-Bonni Neurodevelopmental Syndrome |
|
Patent foramen ovale, Micrognathia, High palate, Coronary-pulmonary artery fistula |
OMIM:619699 |
| Parc Syndrome |
|
Alopecia, Absent eyelashes, Absent eyebrow |
OMIM:600331 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Perimembranous ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta |
OMIM:212090 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Nail dysplasia, Hypermelanotic macule, Nail dystrophy, Alopecia, Mixed hypo- and hyperpigmentatio... |
ORPHA:79397 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair |
ORPHA:1410 |
| Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
High palate, Persistent left superior vena cava, Pulmonic stenosis, Microcephaly, Micrognathia, T... |
ORPHA:3304 |
| Hypotrichosis 1 |
|
Abnormality of the nail, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse pubic hair, S... |
OMIM:605389 |
| Birk-Aharoni Syndrome |
|
Microcephaly, Dolichocephaly, Micrognathia, Muscular ventricular septal defect |
OMIM:620071 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus |
OMIM:125520 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu... |
OMIM:617912 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Thumb Deformity And Alopecia |
|
Increased groin pigmentation with raindrop depigmentation, Alopecia |
OMIM:188150 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Macrocephaly, Muscular ventricular septal defect, Notched primary central incisor, Microcephaly |
OMIM:620062 |
| Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Cerebral berry aneurysm, Arterial fi... |
OMIM:618734 |
| L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Abnormal aortic arch morphology, Mandibular prognathia, Narrow mouth,... |
ORPHA:1110 |
| Syndactyly, Type Iv |
|
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... |
OMIM:186200 |
| Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Palmoplantar keratoderma, Erythema, Hypertrichosis |
OMIM:617524 |
| Tietz Syndrome |
|
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... |
ORPHA:42665 |
| Marie Unna Hereditary Hypotrichosis |
|
Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Al... |
ORPHA:444 |
| Recombinant Chromosome 8 Syndrome |
|
Cerebral atrophy, Secondary microcephaly, Brachycephaly, Thick lower lip vermilion, Gingival over... |
OMIM:179613 |
| Quinquaud Folliculitis Decalvans |
|
Patchy alopecia, Abnormal hair morphology, Erythema, Scarring alopecia of scalp |
ORPHA:346 |
| Synpolydactyly 1 |
|
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... |
OMIM:186000 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Perimembranous ventricular septal defect, Short 2nd finger, Microcephaly, Cleft upper lip, Coarct... |
OMIM:600987 |
| Ritscher-Schinzel Syndrome 1 |
|
Brachycephaly, Prominent occiput, Dandy-Walker malformation, Missing ribs, Anal atresia, Pulmonic... |
OMIM:220210 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair morphology, Dry skin, Abnormal fingernail morphology, Abnormal toenail morphology, ... |
ORPHA:248 |
| Chromosome 15Q25 Deletion Syndrome |
|
Hypoplasia of the corpus callosum, Thin vermilion border, Dextrocardia, Coronary artery fistula, ... |
OMIM:614294 |
| Sandestig-Stefanova Syndrome |
|
Hypoplasia of the corpus callosum, Retrognathia, Perimembranous ventricular septal defect, Muscul... |
OMIM:618804 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... |
OMIM:174500 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... |
OMIM:613854 |
| Coronary Artery Dissection, Spontaneous |
|
Coronary artery dissection, Cystic medial necrosis |
OMIM:122455 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Plagiocephaly, Short philtrum, Mandibular prognathia, Ectopic anus, Aplasia/Hypoplasia of the dis... |
ORPHA:94066 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ... |
OMIM:602032 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Periventricular leukomalacia, Perimembranous ventricular septal defect, Microcephaly |
OMIM:619170 |
| Houge-Janssens Syndrome 3 |
|
Hypoplasia of the corpus callosum, Plagiocephaly, Muscular ventricular septal defect, Macrocephal... |
OMIM:618354 |
| Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ... |
OMIM:615779 |
| Anonychia With Flexural Pigmentation |
|
Hypermelanotic macule, Alopecia of scalp, Abnormal hair morphology, Hyperkeratosis, Anonychia, Ax... |
ORPHA:69125 |
| Aorta Coarctation |
|
Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Abnormal left ve... |
ORPHA:1457 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Coronary artery fistula, Cerebra... |
OMIM:620024 |
| Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis, Nail dystrophy, Fine hair, Sparse hair |
OMIM:300652 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Scaling skin, Alopecia of scalp, Generalized hyperkeratosis, Absent pubic hair, Dry skin, Cutis l... |
ORPHA:2269 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Stillbirth, Abnormal hip bone morphology, Abnormal lung morphology, Upper limb phoco... |
ORPHA:294975 |
| Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
| Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... |
ORPHA:3269 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Nail pits, Nail dystrophy, Ridged nail, Alopecia |
OMIM:601705 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum, Retrognathia, Perimembranous ventricular septal defect, Muscular vent... |
ORPHA:363444 |
| Monilethrix |
|
Brittle hair, Abnormality of the nail, Slow-growing hair, Abnormal eyelash morphology, Patchy alo... |
ORPHA:573 |
| Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Trichodysplasia, Alopecia of scalp |
ORPHA:79129 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Microcephaly, Abnormal heart morphology, Cleft palate, Craniosynostosis |
OMIM:600252 |
| Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... |
OMIM:614429 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Melanocytic nevus, Alopecia uni... |
ORPHA:1008 |
| Griscelli Syndrome Type 3 |
|
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism |
ORPHA:79478 |
| Moynahan Syndrome |
|
Hyperkeratosis, Sparse hair, Alopecia |
ORPHA:2574 |
| Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial septal defect, Ventricular sept... |
OMIM:601927 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum, Perimembranous ventricular septal defect, Hypertrophic cardiomyopathy... |
OMIM:620135 |
| Pili Torti |
|
Brittle hair, Abnormality of the nail, Abnormality of hair texture, Abnormal eyebrow morphology, ... |
ORPHA:2889 |
| Hypotrichosis 5 |
|
Absent pubic hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse eyelashes, Th... |
OMIM:612841 |
| Tricuspid Atresia |
|
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... |
ORPHA:1209 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
| Mmep Syndrome |
|
Orofacial cleft, Mandibular prognathia, Microcephaly, Ventricular septal defect, Median cleft upp... |
ORPHA:3434 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Abnormality of the nail, Alopecia totalis, Hyperpigmentation of the skin |
OMIM:302000 |
| Snijders Blok-Campeau Syndrome |
|
Perimembranous ventricular septal defect, Thin corpus callosum, Macrocephaly, Widely spaced teeth... |
OMIM:618205 |
| Phenobarbital Embryopathy |
|
Aplasia/Hypoplasia of fingers, Mandibular prognathia, Microcephaly, Abnormal mitral valve morphol... |
ORPHA:1919 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Parakeratosis, Nail dystrophy, Alopecia, Hyperkeratosis, Scaling skin on fingertip, Honeycomb pal... |
ORPHA:79395 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Fetal Trimethadione Syndrome |
|
Brachycephaly, Transposition of the great arteries, High palate, Microcephaly, Micrognathia, Tetr... |
ORPHA:1913 |
| Polydactyly, Postaxial, Type A1 |
|
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa... |
OMIM:174200 |
| Conotruncal Heart Malformations |
|
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... |
OMIM:217095 |
| Hypotrichosis 6 |
|
Erythema, Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti, Follicular hyp... |
OMIM:607903 |
| Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect |
OMIM:620203 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, 11 pairs of ribs, ... |
OMIM:617877 |
| Internal Carotid Absence |
|
Subarachnoid hemorrhage, Cerebral ischemia, Dilatation of the cerebral artery |
ORPHA:981 |
| Pili Torti-Onychodysplasia Syndrome |
|
Nail dystrophy, Trichodysplasia, Brittle hair, Absent eyelashes, Dry skin, Absent eyebrow, Sparse... |
ORPHA:2890 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Hypopigmented skin patches, Hyperpigmentation of the skin, Onychogryposis of fingernail, Fingerna... |
ORPHA:2251 |
| Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Dry skin, Sparse hair |
OMIM:617073 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Frontal bossing, Micrognathia, Pierre-Robin sequence, Cleft palate, Short distal ph... |
OMIM:311895 |
| Nemaline Myopathy 9 |
|
Micrognathia, Ventricular septal defect, High palate, Cleft palate |
OMIM:615731 |
| Crandall Syndrome |
|
Brittle hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Fine hair, Pili torti, Alopecia |
ORPHA:202 |
| 16P13.11 Microduplication Syndrome |
|
Transposition of the great arteries, Coarctation of aorta, Dolichocephaly, Tetralogy of Fallot, C... |
ORPHA:261243 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Long philtrum, Aortic aneurysm, Patent foramen ovale, Persistent left superior vena cava, Abnorma... |
ORPHA:477817 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormal lower lip morphology, Abnormal aortic morphology, Tooth agenesis, Microcephaly, Cerebral... |
ORPHA:1166 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Porencephalic cyst, Tetralogy of Fallot, Agenesis of cerebellar vermis, C... |
OMIM:601322 |
| Kerion Celsi |
|
Alopecia |
ORPHA:499 |
| Erythrokeratodermia Variabilis |
|
Irregular hyperpigmentation, Hypermelanotic macule, Abnormal hair morphology, Abnormality of the ... |
ORPHA:317 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Aortic aneurysm, Cerebellar vermis hypoplasia, High palate, Multiple muscular ventricular septal ... |
OMIM:620070 |
| Camptosynpolydactyly, Complex |
|
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly |
OMIM:607539 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... |
OMIM:618167 |
| Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
| Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
| Olmsted Syndrome, X-Linked |
|
Parakeratosis, Subungual hyperkeratosis, Hyperkeratosis, Alopecia totalis, Palmoplantar hyperkera... |
OMIM:300918 |
| Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:606952 |
| Familial Cervical Artery Dissection |
|
Stroke, Hypertension, Facial palsy, Transient ischemic attack, Cerebral ischemia, Recurrent cereb... |
ORPHA:36382 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... |
ORPHA:170 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Scaling skin, Hypermelanotic macule, Nail dystrophy, Alopecia of scalp, Alopecia, Dry skin, Palmo... |
OMIM:618373 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... |
OMIM:614779 |
| Pentasomy X |
|
Plagiocephaly, Abnormal cardiac septum morphology, Microcephaly, Micrognathia, Patent ductus arte... |
ORPHA:11 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
White forelock, Macular hyperpigmented dermopathy |
ORPHA:2779 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul... |
OMIM:617205 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Bic... |
OMIM:618845 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Coarse hair, Small nail, Sparse scalp hair, Patchy alopecia, Sparse eyelashes, Hypoplastic toenai... |
OMIM:613573 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Dystrophic fingernails, Brittle hair, Abnormal sweat gland morphology, Dystrophic toenail, Sparse... |
OMIM:614929 |
| Frontal Encephalocele |
|
Hydrocephalus, Encephalocele, Spina bifida |
ORPHA:1931 |
| Lethal Congenital Contracture Syndrome 10 |
|
Narrow palate, Long philtrum, High palate, Micrognathia, Cardiomegaly, Overriding aorta, Ventricu... |
OMIM:617022 |
| Olmsted Syndrome 2 |
|
Parakeratosis, Perioral hyperkeratosis, Hyperkeratosis, Woolly hair, Sparse hair, Palmoplantar hy... |
OMIM:619208 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Palmoplantar keratoderma, Nail dystrophy, Lack of skin elasticity, Alopecia totalis |
ORPHA:1366 |
| Waardenburg Syndrome, Type 2F |
|
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... |
OMIM:619947 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Retrognathia, Plagiocephaly, Muscular ventricular septal defect, Esophageal atresia, Tracheoesoph... |
OMIM:619227 |
| Clouston Syndrome |
|
Nail dysplasia, Nail dystrophy, Small nail, Brittle hair, Absent pubic hair, Hyperpigmentation of... |
OMIM:129500 |
| Cardiomyopathy, Dilated, 2D |
|
Muscular ventricular septal defect, Patent foramen ovale, Perinuclear cardiomyocyte vacuolization... |
OMIM:619371 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Hydrops fetalis, Polyhydramnios, Upper limb undergrowth, Nonimmune hydrops fetalis, Pulmonary hyp... |
OMIM:613124 |
| Classic Mycosis Fungoides |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Skin ulcer, Abnormality of the nail, Hyp... |
ORPHA:2584 |
| Apert Syndrome |
|
Megalencephaly, Brachyturricephaly, Bifid uvula, Craniosynostosis, Narrow palate, Cleft palate, M... |
OMIM:101200 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Perimembranous ventricular septal defect, Cerebellar vermis hypoplasia, P... |
OMIM:620642 |
| Polydactyly, Preaxial Iv |
|
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... |
OMIM:174700 |
| Chromosome 9P Deletion Syndrome |
|
Narrow palate, Retrognathia, Perimembranous ventricular septal defect, Thin vermilion border, Hig... |
OMIM:158170 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pulmonary artery atresi... |
OMIM:620294 |
| Feingold Syndrome 2 |
|
Secondary microcephaly, Intestinal atresia, Short middle phalanx of the 5th finger, Short thumb, ... |
OMIM:614326 |
| Woolly Hair, Autosomal Recessive 3 |
|
Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair |
OMIM:616760 |
| Feingold Syndrome Type 2 |
|
Microcephaly, Short middle phalanx of finger, Short thumb, Jejunal atresia, Ventricular septal de... |
ORPHA:391646 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal palate morphology, Tooth agenesis, Abnormal mitral valve morphology, Micrognathia, Mesom... |
ORPHA:1277 |
| Adenylosuccinate Lyase Deficiency |
|
Brachycephaly, Flat occiput, Hypointensity of cerebral white matter on MRI, Microcephaly, Smooth ... |
ORPHA:46 |
| Aorto-Ventricular Tunnel |
|
Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hypertrophy, Abnormal aortic m... |
ORPHA:3400 |
| Cardiomyopathy, Dilated, 2G |
|
Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio... |
OMIM:619897 |
| Aortic Valve Disease 1 |
|
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... |
OMIM:109730 |
| Anonychia With Flexural Pigmentation |
|
Dry skin, Axillary and groin hyperpigmentation and hypopigmentation, Anonychia |
OMIM:106750 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Truncus arteriosus, Microcephaly, Cleft palate, Short distal phalanx of finger, ... |
OMIM:601355 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
| Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
| Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
| Albinism, Oculocutaneous, Type Iv |
|
Albinism, Blue irides, Hypopigmentation of hair |
OMIM:606574 |
| Lichen Planopilaris |
|
Hypopigmented skin patches, Skin ulcer, Hyperkeratosis, Onycholysis, Abnormal fingernail morpholo... |
ORPHA:525 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:2786 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
| Pierre Robin Syndrome And Oligodactyly |
|
Micrognathia, Pierre-Robin sequence, Cleft palate, Finger aplasia |
OMIM:172880 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Hypoplasia of the corpus callosum, Retrognathia, Brachycephaly, Ventricular septal defect, High p... |
OMIM:618142 |
| Sotos Syndrome |
|
Narrow palate, Advanced eruption of teeth, Macrocephaly, Muscular ventricular septal defect, High... |
OMIM:117550 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Brachycephaly, Retrognathia, Narrow mouth, High palate, Microcephaly |
ORPHA:2528 |
| Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| Pseudopelade Of Brocq |
|
Abnormal hair morphology, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplasia of the e... |
ORPHA:129 |
| Double Outlet Right Ventricle |
|
Truncus arteriosus, Pulmonary artery atresia, Narrow mouth, Pulmonic stenosis, Intestinal malrota... |
ORPHA:3426 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... |
OMIM:619702 |
| Santos Syndrome |
|
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... |
OMIM:613005 |
| Maternal Phenylketonuria |
|
Hypoplasia of the corpus callosum, Long philtrum, Esophageal atresia, High palate, Microcephaly, ... |
ORPHA:2209 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
| Cerebral Cavernous Malformations |
|
Cerebral cavernous malformation, Intracranial hemorrhage |
OMIM:116860 |
| Porphyria Cutanea Tarda |
|
Onycholysis, Hyperpigmentation in sun-exposed areas, Facial hypertrichosis, Alopecia |
OMIM:176100 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
High, narrow palate, Truncus arteriosus, Abnormal aortic morphology, Microcephaly, Micrognathia, ... |
ORPHA:2516 |
| Tetralogy Of Fallot |
|
Thin vermilion border, Dolichocephaly, Tetralogy of Fallot |
ORPHA:3303 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Plagiocephaly, Oligodontia, Frontal bossing, Patent ductus arteriosus, Atrial septal defect, Vent... |
OMIM:618330 |
| Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Thoracic hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri... |
OMIM:117850 |
| Alopecia Totalis |
|
Alopecia of scalp, Onycholysis, Fragile nails, Nail pits, Trachyonychia, Vitiligo, Alopecia totalis |
ORPHA:700 |
| 14Q11.2 Microdeletion Syndrome |
|
Exaggerated cupid's bow, High palate, Everted lower lip vermilion, Narrow mouth, Micrognathia, Pa... |
ORPHA:261120 |
| Oliver-Mcfarlane Syndrome |
|
Long eyebrows, Long eyelashes, Sparse hair, Central heterochromia, Pigmentary retinopathy, Alopecia |
OMIM:275400 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal lung lobation, Abnormal metaphysis morphology, Abnormal hip bone morphology, Abnormal me... |
ORPHA:2631 |
| Meckel Syndrome, Type 11 |
|
Polydactyly, Occipital encephalocele, Oligohydramnios |
OMIM:615397 |
| Familial Cerebral Saccular Aneurysm |
|
Aortic root aneurysm, Hypertension, Transient ischemic attack, Aortic dissection, Subarachnoid he... |
ORPHA:231160 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Non-midline cleft of the upper lip, Ectopic anus, Cleft palate, Aplasia/Hypoplasia o... |
ORPHA:2476 |
| Catel-Manzke Syndrome |
|
Glossoptosis, Oral synechia, Micrognathia, Cleft palate, Malar flattening, Atrial septal defect, ... |
ORPHA:1388 |
| Diabetic Embryopathy |
|
Transposition of the great arteries, Abnormal aortic morphology, Microcephaly, Frontal bossing, M... |
ORPHA:1926 |
| Thomas Syndrome |
|
Cleft upper lip, Cleft palate, Dolichocephaly, Hypoplastic left heart |
ORPHA:3316 |
| Isolated Pierre Robin Syndrome |
|
Micrognathia, Cleft palate, Glossoptosis |
ORPHA:718 |
| Hypotrichosis Simplex Of The Scalp |
|
Slow-growing scalp hair, Scaling skin, Parakeratosis, Alopecia of scalp, Hyperkeratosis, Sparse s... |
ORPHA:90368 |
| Olmsted Syndrome 1 |
|
Nail dysplasia, Parakeratosis, Nail dystrophy, Hyperparakeratosis, Periorificial hyperkeratosis, ... |
OMIM:614594 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Sparse eyebrow, Melanocytic nevus,... |
ORPHA:1882 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Thick lower lip vermilion, Short philtrum, Micrognathia, Atrial septal defect, Ventricular septal... |
OMIM:608227 |
| Coarctation Of Aorta |
|
Coarctation of aorta, Hypoplastic left heart |
OMIM:120000 |
| Diamond-Blackfan Anemia 6 |
|
Retrognathia, Ventricular hypertrophy, Cleft upper lip, Micrognathia, Bifid uvula, Tetralogy of F... |
OMIM:612561 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Partial anomalous pulmonary venous return, Solitary median maxillary central incisor, Dextrocardi... |
OMIM:619657 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Narrow mouth, Microcephaly, Micrognathia, Cleft palate, Malar flattening, Atrial septal defect |
ORPHA:93946 |
| White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
| Craniofacial Dyssynostosis With Short Stature |
|
Hypoplasia of the corpus callosum, Brachycephaly, Brachyturricephaly, Pyloric stenosis, Frontal b... |
OMIM:218350 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc... |
OMIM:605376 |
| 8Q12 Microduplication Syndrome |
|
Brachycephaly, Narrow mouth, Everted lower lip vermilion, Long philtrum, Atrial septal defect, Ve... |
ORPHA:228399 |
| Lethal Congenital Contracture Syndrome 11 |
|
Polyhydramnios, Elbow flexion contracture, Camptodactyly, Bilateral talipes equinovarus, Pulmonar... |
OMIM:617194 |
| German Syndrome |
|
Brachycephaly, Orofacial cleft, High palate, Everted lower lip vermilion, Micrognathia, Dolichoce... |
ORPHA:2077 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Scaling skin, Alopecia of scalp, Nail dystrophy, Dystrophic fingernails, Absent eyelashes, Absent... |
OMIM:604536 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot |
OMIM:617992 |
| Non-Distal Duplication 10Q |
|
Brachycephaly, High palate, Everted lower lip vermilion, Microcephaly, Frontal bossing, Micrognathia |
ORPHA:1695 |
| Mullegama-Klein-Martinez Syndrome |
|
Short philtrum, Microcephaly, Submucous cleft of soft and hard palate, Coarctation of aorta, Micr... |
OMIM:301022 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus |
OMIM:617021 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Thin corpus callosum, Microcephaly, Hypoplasia of the pons, Atrial septal defect, Ventricular sep... |
OMIM:614249 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Griscelli Syndrome, Type 2 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... |
OMIM:607624 |
| Lujan-Fryns Syndrome |
|
Brachycephaly, Macrocephaly, Aplasia/Hypoplasia of the corpus callosum, Short philtrum, Dental cr... |
ORPHA:776 |
| Partial Atrioventricular Septal Defect |
|
Abnormal tricuspid valve morphology, Bacterial endocarditis, Coronary sinus enlargement, Transien... |
ORPHA:1330 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Bilateral cleft palate, Abnormal aortic morphology, Intestinal malrotation, Micrognathia, Bifid t... |
ORPHA:2001 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long philtrum, Parachute mitral valve, Macrocephaly, Short philtrum, Patent foramen ovale, Exagge... |
OMIM:618316 |
| Scimitar Syndrome |
|
Mitral atresia, Abnormal heart morphology, Interrupted inferior vena cava with azygous continuati... |
ORPHA:185 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Nail dysplasia, Nail dystrophy, Facial erythema, Scarring alopecia of scalp, Sparse eyelashes, Sp... |
OMIM:612843 |
| Bjornstad Syndrome |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... |
OMIM:262000 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Plagiocephaly, Macrocephaly, Rhizomelia, Patent foramen ovale, Micrognathia, Short thumb, Smooth ... |
OMIM:618821 |
| Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
| Holoprosencephaly 13, X-Linked |
|
Solitary median maxillary central incisor, Duodenal atresia, Optic nerve hypoplasia, Patent foram... |
OMIM:301043 |
| Hadziselimovic Syndrome |
|
Hypoplasia of the corpus callosum, Thick lower lip vermilion, Ventricular hypertrophy, Pulmonary ... |
OMIM:612946 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Brachycephaly, Macrocephaly, Broad jaw, Craniosynostosis, Thickened calvaria |
ORPHA:178377 |
| Neural Tube Defects, Susceptibility To |
|
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta |
OMIM:182940 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ... |
ORPHA:2141 |
| Fetal Minoxidil Syndrome |
|
Micrognathia, Ventricular septal defect |
ORPHA:1918 |
| Schöpf-Schulz-Passarge Syndrome |
|
Palmoplantar keratoderma, Alopecia, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormality of the philtrum, Abnormality of the dentition, Microcephaly, Tetralogy of Fallot, Mic... |
ORPHA:276422 |
| Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... |
OMIM:613265 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Leukonychia, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, ... |
OMIM:616099 |
| Dural Sinus Malformation |
|
Cerebellar hemorrhage, Vascular dilatation, Abnormal facial vein morphology, Arteriovenous fistul... |
ORPHA:97339 |
| Flynn-Aird Syndrome |
|
Hyperkeratosis, Alopecia of scalp, Alopecia |
OMIM:136300 |
| Epidermolysis Bullosa, Junctional 5A, Intermediate |
|
Alopecia of scalp, Nail dystrophy, Absent pubic hair, Onycholysis of distal fingernails, Absent a... |
OMIM:619816 |
| Bardet-Biedl Syndrome 5 |
|
Polydactyly, Syndactyly, Brachydactyly |
OMIM:615983 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Brachycephaly, Atrioventricular canal defect, Widely spaced teeth, Microdontia, Microcephaly, Pre... |
OMIM:617364 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Secondary microcephaly, Frontal bossing, Abnormal heart morphology, Cleft palate |
ORPHA:231147 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cerebral atrophy, Cranial asymmetry, Microcephaly, Patent ductus arteriosus, Double outlet right ... |
OMIM:614886 |
| Jawad Syndrome |
|
Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy... |
OMIM:251255 |
| Cortisone Reductase Deficiency 1 |
|
Hirsutism, Alopecia |
OMIM:604931 |
| Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
| Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
| Cardiac Valvular Dysplasia 1 |
|
Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri... |
OMIM:212093 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Short 4th metacarpal, Muscular ven... |
OMIM:618569 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Brachycephaly, Thick lower lip vermilion, Mandibular prognathia, Thick upper lip vermilion, Wide ... |
OMIM:309545 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Ascending aortic dissection, Descending aortic dissection, Coronary a... |
OMIM:615436 |
| Catel-Manzke Syndrome |
|
Dextrocardia, Glossoptosis, Short metacarpal, High palate, Narrow mouth, Cleft upper lip, Coarcta... |
OMIM:616145 |
| Skraban-Deardorff Syndrome |
|
Hypoplasia of the corpus callosum, Absent cupid's bow, Widely spaced teeth, Right aortic arch, Mi... |
OMIM:617616 |
| Schopf-Schulz-Passarge Syndrome |
|
Narrow nail, Nail dystrophy, Thin nail, Ridged nail, Small nail, Hyperkeratosis, Dry skin, Poroma... |
OMIM:224750 |
| Reversible Cerebral Vasoconstriction Syndrome |
|
Ischemic stroke, Abnormal bleeding, Dilatation of the cerebral artery, Transient ischemic attack,... |
ORPHA:284388 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Narrow mouth, Everted lower lip vermilion, Oral synechia, Micrognathia, Cleft palate |
ORPHA:2016 |
| Feingold Syndrome Type 1 |
|
Tricuspid atresia, Esophageal atresia, Interrupted aortic arch, Short middle phalanx of the 5th f... |
ORPHA:391641 |
| Keratoderma Hereditarium Mutilans |
|
Abnormality of the nail, Hyperkeratosis, Abnormal toenail morphology, Honeycomb palmoplantar hype... |
ORPHA:494 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Anal atresia, Microcephaly, Cleft palate, Colonic atresia, Agenesis ... |
OMIM:309801 |
| Huriez Syndrome |
|
Small nail, Abnormality of the nail, Dry skin, Lack of skin elasticity, Palmoplantar keratoderma |
ORPHA:384 |
| Cornelia De Lange Syndrome 2 |
|
Brachycephaly, High palate, Hypertrophic cardiomyopathy, Microcephaly, Micrognathia, Thin upper l... |
OMIM:300590 |
| Cleft Palate, Isolated |
|
Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate |
OMIM:119540 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Orofacial cleft, Aplasia/Hypoplasia of the thum... |
ORPHA:3186 |
| Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Short philtrum, Everted lower lip vermilion, Cleft palate, Tented upper lip... |
OMIM:616898 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Palmoplantar scaling skin, Nail dystrophy, Woolly hair, Sparse eyelashes, Sparse eyebrow, Palmopl... |
OMIM:605676 |
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
Stroke, Cerebral hemorrhage, Intracranial hemorrhage |
OMIM:105150 |
| Abetal34V Amyloidosis |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324703 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
| Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Microcephaly, Dilated cardiomyopathy, Ventricular septal defect, High, narrow palate |
ORPHA:2515 |
| Ciliary Dyskinesia, Primary, 52 |
|
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for... |
OMIM:620570 |
| Microphthalmia, Syndromic 12 |
|
Retrognathia, Hypoplastic left atrium, Intestinal malrotation, Micrognathia, Cleft palate, Ventri... |
OMIM:615524 |
| Idiopathic Trachyonychia |
|
Nail dystrophy, Toenail dysplasia, Thin nail, Ridged nail, Abnormality of the periungual region, ... |
ORPHA:79153 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Toenail dysplasia, Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenails, Finge... |
ORPHA:2325 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Holoprosencephaly 14 |
|
Macrocephaly, Proboscis, Aortic valve atresia, Dandy-Walker malformation, Microcephaly, Frontal b... |
OMIM:619895 |
| Syndactyly Type 4 |
|
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... |
ORPHA:93405 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular septal hypertrophy, Muscular ventricular septal defect, Stroke, Ventricular hypertrop... |
OMIM:115197 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Brachycephaly, Plagiocephaly, Microcephaly, Diffuse cerebral atrophy, Flat occiput |
ORPHA:2898 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus, Cleft palate, Malar flattening, Smooth philtrum, Thin upper lip vermilion |
OMIM:611867 |
| Bathing Suit Ichthyosis |
|
Scaling skin, Parakeratosis, Nail dystrophy, Sparse hair, Palmoplantar hyperkeratosis, Alopecia |
ORPHA:100976 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Total absence of t... |
OMIM:600001 |
| Oculoauriculofrontonasal Syndrome |
|
Macrocephaly, Narrow mouth, Microcephaly, Micrognathia, Cleft palate, Broad philtrum, Pericallosa... |
ORPHA:398156 |
| 15Q11.2 Microdeletion Syndrome |
|
Abnormal palate morphology, Total anomalous pulmonary venous return, Thick cerebral cortex, Micro... |
ORPHA:261183 |
| Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Perimembranous ventricular septal defect, Re... |
OMIM:608779 |
| Mungan Syndrome |
|
Perimembranous ventricular septal defect, Intestinal pseudo-obstruction, Barrett esophagus, Pulmo... |
OMIM:611376 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... |
OMIM:613751 |
| Hoxha-Aliu Syndrome |
|
Brachycephaly, Perimembranous ventricular septal defect, Absent fifth metatarsal, Short fifth met... |
OMIM:620662 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Nail dystrophy, Patchy alopecia, Plantar hyperkeratosis, Fragile nails |
OMIM:226650 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Thin vermilion border, Incisor macrodontia, Narrow mouth, Microcephaly, Coarctation of aorta, Cle... |
OMIM:615502 |
| Congenital Factor Ii Deficiency |
|
Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Excessive bleeding from superfici... |
ORPHA:325 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Brachycephaly, Retrognathia, High, narrow palate, Macrocephaly, Delayed eruption of teeth, Cerebr... |
ORPHA:2780 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Microcephaly, Trigonocephaly, Wide mouth, Thick vermilion border, Delaye... |
OMIM:618506 |
| Cardiomyopathy, Dilated, 1S |
|
Perimembranous ventricular septal defect, Ebstein anomaly of the tricuspid valve, Pulmonary arter... |
OMIM:613426 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
| Double Outlet Left Ventricle |
|
Pulmonary valve atresia, Orofacial cleft, Double outlet left ventricle, Tricuspid atresia, Bicusp... |
ORPHA:3427 |
| Ermine Phenotype |
|
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... |
OMIM:227010 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
| Holzgreve Syndrome |
|
Cleft upper lip, Cleft palate, Hypoplastic left heart |
OMIM:236110 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot... |
OMIM:614980 |
| Hypotrichosis 8 |
|
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... |
OMIM:278150 |
| Hypomandibular Faciocranial Dysostosis |
|
Hypoplasia of the maxilla, Coronal craniosynostosis, Micrognathia, Malar flattening, Patent ductu... |
OMIM:241310 |
| Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... |
OMIM:193510 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Cerebral atrophy, Atrioventricular canal defect, Cerebellar hypoplasia, Double inlet left ventric... |
OMIM:270100 |
| Orofaciodigital Syndrome Type 5 |
|
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... |
ORPHA:2919 |
| Laubry-Pezzi Syndrome |
|
Perimembranous ventricular septal defect, Patent ductus arteriosus, Subarterial ventricular septa... |
ORPHA:99094 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| 8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Tetralogy of Fallot, Thick vermilion border, Long philtrum, Ventricular septal... |
ORPHA:251076 |
| Moderate Hemophilia A |
|
Spontaneous hematomas, Gastrointestinal hemorrhage, Epidural hemorrhage, Abnormal bleeding, Intra... |
ORPHA:169805 |
| Autosomal Recessive Amelia |
|
Orofacial cleft, Non-midline cleft of the upper lip, Amelia involving the upper limbs, Amelia, Ac... |
ORPHA:1027 |
| Diprosopus |
|
Non-midline cleft of the upper lip, Cleft palate, Anencephaly, Abnormal cardiac septum morphology |
ORPHA:1681 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:619165 |
| Sporadic Fetal Brain Disruption Sequence |
|
Microcephaly, Plagiocephaly, Cerebral cortical atrophy, Prominent occiput |
ORPHA:1665 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Factor Vii Deficiency |
|
Abnormal bleeding, Intramuscular hematoma, Menorrhagia, Joint hemorrhage, Epistaxis, Intracranial... |
OMIM:227500 |
| Coffin-Siris Syndrome 6 |
|
Periventricular leukomalacia, Retrognathia, High, narrow palate, Plagiocephaly, Short philtrum, F... |
OMIM:617808 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Turricephaly, Prominent occiput, Microdontia, Microcephaly, Bifid uvula, Long philtrum, Short dis... |
OMIM:612474 |
| 22Q11.2 Duplication Syndrome |
|
Transposition of the great arteries, Interrupted aortic arch, Microcephaly, Micrognathia, Cleft p... |
ORPHA:1727 |
| Congenital Factor V Deficiency |
|
Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleeding, Pr... |
ORPHA:326 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Everted lower lip vermilion, Pulmonic stenosis, Patent ductus arteriosus, Atrial septal defect, V... |
OMIM:249670 |
| Congenital Gerbode Defect |
|
Perimembranous ventricular septal defect, Vascular dilatation, Abnormal tricuspid valve leaflet m... |
ORPHA:99095 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hypoplasia of the corpus callosum, Brachycephaly, Dysplastic pulmonary valve, Microcephaly, Cleft... |
OMIM:300958 |
| Lessel-Kreienkamp Syndrome |
|
Plagiocephaly, Dental malocclusion, Patent foramen ovale, Pulmonic stenosis, Frontal bossing, Ope... |
OMIM:619149 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Nail dysplasia, Parakeratosis, Nail dystrophy, Sparse hair, Palmoplantar hyperkeratosis, Alopecia |
OMIM:242300 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Long philtrum, Perimembranous ventricular septal defect, Protein-losing enteropathy, Patent ductu... |
OMIM:608104 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Cerebral atrophy, Perimembranous ventricular septal defect, Thick lower lip vermilion, Widely-spa... |
OMIM:301040 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
| Fumarase Deficiency |
|
Cerebral atrophy, Perimembranous ventricular septal defect, Polymicrogyria, Relative macrocephaly... |
OMIM:606812 |
| Woolly Hair-Skin Fragility Syndrome |
|
Palmoplantar keratoderma, Acantholysis, Woolly hair |
OMIM:620415 |
| Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Purpura, Excessive bleeding from superficial cuts, Gingival bleeding... |
OMIM:273800 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Hypoplasia of the corpus callosum, Plagiocephaly, Macrocephaly, Polymicrogyria, Patent foramen ov... |
ORPHA:500159 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hypoplasia of the corpus callosum, Retrognathia, Global brain atrophy, Macrocephaly, Craniosynost... |
OMIM:301056 |
| Mesomelic Limb Shortening And Bowing |
|
Retrognathia, Mesomelic arm shortening, Mesomelic leg shortening, Micrognathia, Cleft palate |
OMIM:249710 |
| Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Cephalohematoma, Intramuscular hematoma, Prolon... |
ORPHA:169802 |
| Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
| Autosomal Dominant Coarctation Of Aorta |
|
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... |
ORPHA:1455 |
| Temtamy Syndrome |
|
Abnormal palate morphology, Macrocephaly, Thick lower lip vermilion, Aortic aneurysm, Micrognathi... |
ORPHA:1777 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Macrocephaly, Thick lower lip vermilion, Optic nerve hypoplasia, Cranial asymmetry, Pulmonic sten... |
ORPHA:137634 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal ventriculoarterial connection, Abnormal coronary artery morphology, Abnormal aortic arch... |
ORPHA:860 |
| Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Micrognathia, Conotruncal defect, Cleft palate |
OMIM:243440 |
| 3P25.3 Microdeletion Syndrome |
|
Brachycephaly, High, narrow palate, Acromesomelia, Coronary artery atherosclerosis, Short philtru... |
ORPHA:435638 |
| Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus |
OMIM:614432 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, Posterior cerebral art... |
OMIM:132900 |
| Cat-Eye Syndrome (Type I) |
|
Micrognathia, Abnormal heart morphology, Anal atresia |
DECIPHER:42 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly, Occipital encephalocele |
OMIM:213010 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Leukonychia, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse axilla... |
OMIM:613102 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... |
ORPHA:439 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Generalized hyperpigmentation, Hypopigmentation of hair |
ORPHA:1355 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Brachycephaly, Widely spaced teeth, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Rela... |
ORPHA:459061 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart |
OMIM:241550 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus, Pallor, Hepatomegaly, Splenomegaly |
ORPHA:163596 |
| Congenital Factor Xiii Deficiency |
|
Spontaneous hematomas, Intramuscular hematoma, Post-partum hemorrhage, Oral cavity bleeding, Ging... |
ORPHA:331 |
| Tetraamelia Syndrome 2 |
|
Hypoplastic pulmonary veins, Amelia, Glossoptosis, Ankyloglossia, Micrognathia, Cleft palate, Mic... |
OMIM:618021 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Perimembranous ventricular septa... |
ORPHA:508498 |
| Albinism, Oculocutaneous, Type Ii |
|
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... |
OMIM:203200 |
| Yuan-Harel-Lupski Syndrome |
|
Long philtrum, Aortic root aneurysm, High palate, Smooth philtrum, Bicuspid aortic valve, Ventric... |
OMIM:616652 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... |
ORPHA:895 |
| Rhizomelic Syndrome |
|
Pulmonic stenosis, Micrognathia, Rhizomelia, Microcephaly |
OMIM:268250 |
| Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Thin corpus callosum, Dilation of Virchow-Robin spaces, Everted lower lip vermilion, Microcephaly... |
OMIM:619720 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Long eyelashes, Pigmentary retinopathy, Sparse hair, Alopecia |
ORPHA:3363 |
| Polyvalvular Heart Disease Syndrome |
|
Short philtrum, Abnormal heart valve morphology, Dental crowding, High palate, Pulmonic stenosis,... |
ORPHA:228410 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Moyamoya phenomenon, Ischemic stroke, Delayed puberty, Coronary artery atherosclerosis, Hypertens... |
ORPHA:280679 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Slow-growing hair, Sparse scalp hair, Dry skin, Sparse eyelashes, Sparse body hair, Sparse hair, ... |
OMIM:618535 |
| Familial Aortic Dissection |
|
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane... |
ORPHA:229 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Brachycephaly, Short philtrum, Tooth malposition, High palate, Everted lower lip vermilion, Furro... |
ORPHA:1387 |
| Hypotrichosis 7 |
|
Brittle hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse scalp hair, Woolly... |
OMIM:604379 |
| Brain Small Vessel Disease 2 |
|
Growth delay, Intracranial hemorrhage |
OMIM:614483 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Secondary microcephaly, Broad secondary alveolar ridge, High palate, Multiple suture craniosynost... |
ORPHA:3369 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Brachycephaly, Long philtrum, Plagiocephaly, Macrocephaly, Mandibular prognathia, Microcephaly, F... |
OMIM:619721 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Retrognathia, Mandibular prognathia, Microcephaly, Micrognathia, Bifid uvula, Cleft palate, Submu... |
ORPHA:2521 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Brachycephaly, Plagiocephaly, Transposition of the great arteries, Patent foramen ovale, Everted ... |
OMIM:616789 |
| Halperin-Birk Syndrome |
|
Perimembranous ventricular septal defect, High palate, Micrognathia, Thick vermilion border, Agen... |
OMIM:618651 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Orofacial cleft, Plagiocephaly, Microcephaly, Intestinal malrotation, Micrognathia, Incomplete cl... |
ORPHA:77300 |
| Woolly Hair, Autosomal Dominant |
|
Coarse hair, Slow-growing hair, Abnormal eyelash morphology, Woolly hair, Abnormal eyebrow morpho... |
OMIM:194300 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Ischemic stroke, Stroke, Hypertension, Transient ischemic attack, Cerebral ischemia, Cerebral hem... |
ORPHA:136 |
| Oculocerebral Syndrome With Hypopigmentation |
|
Hypopigmentation of the skin, Silver-gray hair |
OMIM:257800 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Brachycephaly, Retrognathia, Thin vermilion border, Atrioventricular canal defect, Flat occiput, ... |
OMIM:613792 |
| Joubert Syndrome 15 |
|
Preaxial polydactyly, Exencephaly |
OMIM:614464 |
| Alg12-Cdg |
|
Hypoplasia of the corpus callosum, Posterior plagiocephaly, Muscular ventricular septal defect, S... |
ORPHA:79324 |
| Bardet-Biedl Syndrome 7 |
|
Polydactyly, 2-3 toe syndactyly, Clinodactyly, Postaxial polydactyly |
OMIM:615984 |
| Parkes Weber Syndrome |
|
Spinal arteriovenous malformation, Abnormal bleeding, Arteriovenous malformation, Venous malforma... |
ORPHA:90307 |
| Hemophilia A |
|
Spontaneous hematomas, Gastrointestinal hemorrhage, Intramuscular hematoma, Joint hemorrhage, Int... |
ORPHA:98878 |
| Factor Xiii, A Subunit, Deficiency Of |
|
Spontaneous hematomas, Abnormal bleeding, Gingival bleeding, Abnormal umbilical stump bleeding, J... |
OMIM:613225 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Pulmonic stenosis, Absence of the sacrum, Cardiomegaly, Right atrial iso... |
OMIM:306955 |
| Pontocerebellar Hypoplasia, Type 3 |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, High, narrow palate, Brachycephaly, Progress... |
OMIM:608027 |
| Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
| Adducted Thumbs Syndrome |
|
High, narrow palate, Cerebral dysmyelination, High palate, Microcephaly, Velopharyngeal insuffici... |
OMIM:201550 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... |
OMIM:618780 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Hypertension, Descending aortic dissection, Peripheral arteri... |
ORPHA:91387 |
| Acropectoral Syndrome |
|
Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx |
OMIM:605967 |
| Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Brachycephaly, Thin corpus callosum, Progressive microcephaly, Microcephaly, Cerebral cortical at... |
OMIM:620240 |
| Abeta Amyloidosis, Iowa Type |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324708 |
| Auriculocondylar Syndrome 2A |
|
Short mandibular rami, Macrocephaly, Mandibular condyle hypoplasia, Dental crowding, Temporomandi... |
OMIM:614669 |
| Congenital Disorder Of Glycosylation, Type Iiy |
|
Brachycephaly, Thin corpus callosum, Microcephaly, Cerebral cortical atrophy, Agenesis of corpus ... |
OMIM:620200 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... |
OMIM:256710 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Secondary microcephaly, Retrognathia, Thin vermilion border, Skull asymmetry, Dandy-Walker malfor... |
OMIM:612938 |
| Centrifugal Lipodystrophy |
|
Scaling skin, Erythema, Alopecia |
ORPHA:90156 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Brachycephaly, Plagiocephaly, Transposition of the great arteries, Aortic root aneurysm, Secundum... |
OMIM:619910 |
| Aminopterin Syndrome Sine Aminopterin |
|
Brachycephaly, Megalencephaly, Macrocephaly, Oligodontia, High palate, Microcephaly, Frontal boss... |
OMIM:600325 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Plagiocephaly, Microcephaly, Intestinal malrotation, Downturned corners of mouth, Cleft palate, M... |
ORPHA:457193 |
| Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
| Beck-Fahrner Syndrome |
|
Brachycephaly, Periventricular leukomalacia, Long philtrum, Macrocephaly, High palate, Microcepha... |
OMIM:618798 |
| Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
| Clark-Baraitser Syndrome |
|
Brachycephaly, Short philtrum, Exaggerated cupid's bow, High palate, Microcephaly, Downturned cor... |
OMIM:617752 |
| Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion |
|
Short philtrum, Abnormality of the dentition, Biparietal narrowing, Microcephaly, Cleft palate, S... |
ORPHA:261190 |
| 6Q25 Microdeletion Syndrome |
|
Plagiocephaly, High palate, Microcephaly, Micrognathia, Cleft palate, Malar flattening, Agenesis ... |
ORPHA:251056 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Anencephaly, Aplasia/Hypoplasia of the thumb, Non-midline cleft of the up... |
ORPHA:1908 |
| Platyspondylic Dysplasia, Torrance Type |
|
Abnormal carpal morphology, Hydrops fetalis, Polyhydramnios, Metaphyseal cupping, Bowing of the l... |
ORPHA:85166 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Short philtrum, Cloverleaf skull, Frontal bossing, Micrognathia, Downturned corners o... |
ORPHA:93267 |
| Distal Duplication 14Q |
|
Short stature, Abnormal aortic morphology, Patent ductus arteriosus |
ORPHA:1705 |
| Xk Aprosencephaly Syndrome |
|
Narrow mouth, Anal atresia, Microcephaly, Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
| Afibrinogenemia, Congenital |
|
Hematemesis, Abnormal bleeding, Epidural hemorrhage, Gingival bleeding, Prolonged bleeding follow... |
OMIM:202400 |
| Factor X Deficiency |
|
Prolonged prothrombin time, Intramuscular hematoma, Gingival bleeding, Menorrhagia, Joint hemorrh... |
OMIM:227600 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Stillbirth, Clinodactyly of the 5th finger, Hydranencephaly, Single transverse palmar crease, 2-3... |
OMIM:236500 |
| Snakebite Envenomation |
|
Abnormal bleeding, Stroke, Gingival bleeding, Cerebral ischemia, Muscle fiber necrosis, Hypotensi... |
ORPHA:449285 |
| Pseudoprogeria Syndrome |
|
Absent eyelashes, Absent eyebrow, Sparse eyebrow, Sparse hair, Alopecia |
ORPHA:2985 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A... |
OMIM:618719 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Hypoplasia of the corpus callosum, Brachycephaly, Plagiocephaly, Tooth malposition, High palate, ... |
OMIM:618603 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Coarse hair |
OMIM:234030 |
| Cardiomyopathy, Dilated, 1R |
|
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... |
OMIM:613424 |
| Woolly Hair Nevus |
|
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat... |
ORPHA:79414 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Brachycephaly, Short philtrum, High palate, Microcephaly, Tetralogy of Fallot, Ventricular septal... |
ORPHA:3306 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... |
ORPHA:2885 |
| Fadd-Related Immunodeficiency |
|
Cerebral atrophy, Ventricular septal defect, Pulmonary artery atresia |
ORPHA:306550 |
| Sneddon Syndrome |
|
Hypertension, Intracranial hemorrhage, Arterial stenosis |
ORPHA:820 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Intramuscular hematoma, Post-partum hemorrhage,... |
ORPHA:465 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 13 |
|
Hypoplasia of the corpus callosum, Plagiocephaly, Cerebellar vermis hypoplasia, Frontal polymicro... |
OMIM:614563 |
| Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Aplasia/hypoplasia involving bones of the upper limbs, High palate... |
ORPHA:40366 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Jaundice, Hepatomegaly, Growth delay, Short stature, Splenomegaly, Syndactyly, Pallor |
OMIM:615631 |
| Sneddon Syndrome |
|
Ischemic stroke, Stroke, Hypertension, Facial palsy, Cerebral hemorrhage, Bicuspid aortic valve |
OMIM:182410 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Femoral retroversion, Unilateral wrist flexion contracture, Pulmonary hypoplasia, Overlapping fin... |
OMIM:616531 |
| Adult Syndrome |
|
Breast hypoplasia, Skin ulcer, Toenail dysplasia, Abnormality of the nail, Hypoplastic nipples, S... |
ORPHA:978 |
| Oculocutaneous Albinism Type 3 |
|
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... |
ORPHA:79433 |
| Pierpont Syndrome |
|
Brachycephaly, Short finger, Thin vermilion border, Abnormal cortical gyration, Widely spaced tee... |
ORPHA:487825 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Camptodactyly, Spina bifida, Mitral valve prolapse, Small hypothenar eminence, Small thenar emine... |
OMIM:211960 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Plagiocephaly, Aganglionic megacolon, Anal stenosis, Anal atresia, Microcephaly, Shortening of al... |
OMIM:614749 |
| Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
| Right Atrial Isomerism |
|
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres... |
OMIM:208530 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... |
OMIM:616749 |
| Immune Thrombocytopenia |
|
Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Epistaxis, Cerebral hemorrhag... |
ORPHA:3002 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Tessier cleft, Narrow mouth, Microcephaly, Cleft upper lip, Micrognathia, Abnormal heart morpholo... |
OMIM:239800 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hypoplasia of the corpus callosum, Plagiocephaly, Macrocephaly, Cerebellar vermis hypoplasia, Pol... |
OMIM:617751 |
| Dermatopathia Pigmentosa Reticularis |
|
Reticular hyperpigmentation, Alopecia of scalp, Nail dystrophy, Palmoplantar hyperkeratosis |
OMIM:125595 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intramuscular hematoma, Gingival bleeding, Abnormal umbilical stump bleeding, ... |
ORPHA:79 |
| Prune1-Related Neurological Syndrome |
|
Cerebral atrophy, Plagiocephaly, Thin corpus callosum, Hypertrophic cardiomyopathy, Microcephaly,... |
ORPHA:544469 |
| Isolated Hemihyperplasia |
|
Myelomeningocele |
ORPHA:2128 |
| Hemophilia B |
|
Cephalohematoma, Intramuscular hematoma, Spontaneous, recurrent epistaxis, Delayed onset bleeding... |
ORPHA:98879 |
| Holt-Oram Syndrome |
|
Abnormal coronary artery origin, Pulmonic stenosis, Aplasia of the 1st metacarpal, Short humerus,... |
OMIM:142900 |
| Atelosteogenesis, Type Ii |
|
Stillbirth, Sandal gap, Bifid humerus, Short greater sciatic notch, Hitchhiker thumb, Flat acetab... |
OMIM:256050 |
| 2Q32Q33 Microdeletion Syndrome |
|
Brachycephaly, Thin vermilion border, Dental crowding, Oligodontia, High palate, Narrow mouth, Mi... |
ORPHA:251019 |
| Grange Syndrome |
|
Short palm, Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus |
ORPHA:79094 |
| Aprosencephaly Syndrome |
|
Anencephaly, Aprosencephaly |
OMIM:207770 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Tessier cleft, Bilateral cleft palate, Amelia, Cleft upper lip, Foot oligodactyly, Short femur, V... |
OMIM:601357 |
| Carpenter Syndrome |
|
Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly,... |
ORPHA:65759 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Cardiomyopathy, Pulmonary arterial hypertension, Neonatal death, Nonimmune hydrops fetalis, Pulmo... |
OMIM:619003 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Thin nail, Abnormal hair morphology, Small nail, Hyperkeratosis, Palmoplantar keratoderma, Erythe... |
OMIM:242100 |
| Ulnar Hemimelia |
|
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... |
ORPHA:93320 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,... |
ORPHA:216694 |
| Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Pallor, Hepatomegaly, Elevated circulating hepatic transaminase concentration |
OMIM:613561 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Right aortic arch, Midgut mal... |
ORPHA:2326 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Brachycephaly, Mandibular prognathia, Anal atresia, Microcephaly, Hypoplasia of the maxilla |
ORPHA:93950 |
| Synpolydactyly 2 |
|
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... |
OMIM:608180 |
| Down Syndrome |
|
Brachycephaly, Atrioventricular canal defect, Aganglionic megacolon, Patent ductus arteriosus, Pa... |
OMIM:190685 |
| Albinism, Oculocutaneous, Type Vi |
|
Generalized hypopigmentation, Fair hair |
OMIM:113750 |
| Kleefstra Syndrome 2 |
|
Microcephaly, Plagiocephaly, Bifid uvula, Everted lower lip vermilion |
OMIM:617768 |
| Distal Deletion 15Q |
|
Short finger, Flat occiput, Abnormal aortic arch morphology, Patent ductus arteriosus, Short phil... |
ORPHA:1596 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Moyamoya phenomenon, Premature coronary artery atherosclerosis, Aortic aneurysm, Ascending tubula... |
OMIM:611788 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock |
OMIM:601706 |
| Periventricular Nodular Heterotopia 1 |
|
Bicuspid aortic valve, Stroke, Cerebral hemorrhage, Patent ductus arteriosus |
OMIM:300049 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Brachycephaly, Subcortical cerebral atrophy, Macroglossia, Everted lower lip vermilion, Protrudin... |
ORPHA:96147 |
| Isotretinoin-Like Syndrome |
|
Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Abnormality of the pulmon... |
ORPHA:2306 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Brachycephaly, Coarctation of aorta, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal ... |
ORPHA:371428 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Patchy alopecia |
OMIM:247100 |
| Transketolase Deficiency |
|
Patent foramen ovale, Abnormal coronary artery course, Abnormal heart morphology, Patent ductus a... |
ORPHA:488618 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ... |
OMIM:607941 |
| Hereditary Mucoepithelial Dysplasia |
|
Hyperkeratosis, Fine hair, Sparse hair, Alopecia |
ORPHA:1839 |
| Short Stature And Facioauriculothoracic Malformations |
|
High palate, Microcephaly, Cleft upper lip, Cleft palate, Ventricular septal defect |
OMIM:609654 |
| Pierpont Syndrome |
|
Brachycephaly, Short finger, Thin vermilion border, Widely spaced teeth, Long upper lip, Prominen... |
OMIM:602342 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Brachycephaly, Macrocephaly, Dandy-Walker malformation, Patent foramen ovale, Dental crowding, Sh... |
OMIM:612582 |
| Pachyonychia Congenita |
|
Nail dystrophy, Palmoplantar keratoderma, Onychogryposis of toenails, Alopecia, Linear arrays of ... |
ORPHA:2309 |
| Primary Ciliary Dyskinesia |
|
Situs inversus totalis, Transposition of the great arteries, Abnormal atrial arrangement, Abnorma... |
ORPHA:244 |
| Frank-Ter Haar Syndrome |
|
Hypoplasia of the corpus callosum, Brachycephaly, Flat occiput, Dental malocclusion, Broad alveol... |
OMIM:249420 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Moyamoya phenomenon, Postnatal growth retardation, Abnormal left ventricle morphology, Premature ... |
OMIM:300845 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Cerebral atrophy, Brachycephaly, Dental crowding, Patent foramen ovale, High palate, Narrow mouth... |
OMIM:615539 |
| Congenital Factor Vii Deficiency |
|
Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin... |
ORPHA:327 |
| Alopecia Universalis |
|
Abnormality of the nail, Absent eyelashes, Patchy alopecia, Absent eyebrow, Vitiligo, Alopecia un... |
ORPHA:701 |
| Alopecia-Intellectual Disability Syndrome |
|
Alopecia, Sparse body hair, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2850 |
| Rubinstein-Taybi Syndrome 1 |
|
Retrognathia, Dental crowding, Parietal foramina, Microcephaly, Mitral valve prolapse, Narrow pal... |
OMIM:180849 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Spontaneous hematomas, Purpura, Abnormal bleeding, Gastrointestinal hemorrhage, Melena, Cephalohe... |
ORPHA:853 |
| Orofaciodigital Syndrome Xviii |
|
Preaxial polydactyly, Genu valgum, Sandal gap, Single transverse palmar crease, Postaxial polydac... |
OMIM:617927 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Hypoplasia of the corpus callosum, Retrognathia, Flat occiput, Brachycephaly, High palate, Microc... |
OMIM:617452 |
| Peeling Skin Syndrome 4 |
|
Scaling skin, Nail dystrophy, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:607936 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hypoplasia of the corpus callosum, Brachycephaly, Plagiocephaly, Micrognathia, Agenesis of corpus... |
OMIM:618577 |
| Cornelia De Lange Syndrome 5 |
|
Brachycephaly, Retrognathia, Thin vermilion border, Widely spaced teeth, High palate, Microcephal... |
OMIM:300882 |
| Beaulieu-Boycott-Innes Syndrome |
|
Microcephaly, Carious teeth, Micrognathia, Velopharyngeal insufficiency, Patent ductus arteriosus... |
OMIM:613680 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Hypoplasia of the corpus callosum, Brachycephaly, Plagiocephaly, Short philtrum, Prominent occipu... |
OMIM:618672 |
| Joubert Syndrome 14 |
|
Encephalocele, Meningocele, Hydrocephalus, Hypertension, Growth delay, Intracranial hemorrhage, V... |
OMIM:614424 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Faciocardiorenal Syndrome |
|
Plagiocephaly, Tricuspid valve prolapse, Narrow mouth, Cleft palate, Smooth philtrum, Hypodontia,... |
ORPHA:1973 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Plagiocephaly, Micrognathia, Abnormal heart morphology, Scaphocephaly |
ORPHA:1143 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Cerebral atrophy, Thin vermilion border, Brachycephaly, Turricephaly, Abnormal septum pellucidum ... |
ORPHA:171839 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Prominent occiput, Short metacarpal, Microcephaly, Short humerus, Muscular ventricular septal def... |
OMIM:210710 |
| Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Cerebral atrophy, Brachycephaly, Hypoplasia of the corpus callosum, Dental crowding, Microcephaly |
ORPHA:320385 |
| 8P23.1 Microdeletion Syndrome |
|
Thin vermilion border, Atrioventricular canal defect, Transposition of the great arteries, Abnorm... |
ORPHA:251071 |
| Congenital Factor X Deficiency |
|
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Intramuscular hem... |
ORPHA:328 |
| Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
| Renal Tubular Dysgenesis |
|
Bilateral single transverse palmar creases, Oligohydramnios, Polyhydramnios, Pulmonary hypoplasia |
ORPHA:3033 |
| Bardet-Biedl Syndrome 16 |
|
Polydactyly, Recurrent respiratory infections, Bronchiolitis |
OMIM:615993 |
| Even-Plus Syndrome |
|
Dysplastic corpus callosum, Brachycephaly, Patent foramen ovale, High palate, Anal atresia, Agene... |
OMIM:616854 |
| Rhizomelic Chondrodysplasia Punctata |
|
Sparse body hair, Dry skin, Alopecia |
ORPHA:177 |
| Intellectual Developmental Disorder, X-Linked 1 |
|
Secondary microcephaly, Brachycephaly |
OMIM:309530 |
| Gómez-López-Hernández Syndrome |
|
Cerebellar vermis hypoplasia, Thin vermilion border, Turricephaly, Brachycephaly |
ORPHA:1532 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Thin corpus callosum, Everted lower lip vermilion, Wide mouth, Transposition of the great arterie... |
OMIM:280000 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy... |
OMIM:108900 |
| Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme... |
ORPHA:33445 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Pulmonic stenosis, Eosinophilic infiltration of the esophagus, Microcephaly, Multiple muscular ve... |
OMIM:615508 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm |
OMIM:613780 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Pulmonary embolism, Cerebral hemorrhage |
OMIM:614514 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Microdontia, Pulmonic stenosis, Long philtrum, Bicuspid aortic valve, Short 5th finger, Primary m... |
OMIM:610759 |
| Wyburn-Mason Syndrome |
|
Vascular dilatation, Arteriovenous malformation, Peripheral arteriovenous fistula, Gingival bleed... |
ORPHA:53719 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Hypoplasia of the corpus callosum, Ventricular hypertrophy, Microcephaly, Tetralogy of Fallot, Ag... |
OMIM:300887 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Brachycephaly, Abnormal oral frenulum morphology, Intestinal malrotation, Micrognathia, Abnormal ... |
ORPHA:404440 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy... |
OMIM:614096 |
| Zechi-Ceide Syndrome |
|
Thin vermilion border, Short metatarsal, Short philtrum, Cerebellar vermis hypoplasia, Mandibular... |
ORPHA:217017 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Persistent left superior vena cava, Atrial septal defect, Abnormal heart morphology, Tetralogy of... |
OMIM:614954 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Prolonged bleeding fo... |
ORPHA:35909 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Holoprosencephaly, Meningocele |
ORPHA:588 |
| Methimazole Embryofetopathy |
|
Esophageal atresia, Abnormal aortic morphology, Calvarial skull defect, Tracheoesophageal fistula... |
ORPHA:1923 |
| Waardenburg-Shah Syndrome |
|
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... |
ORPHA:897 |
| Al Kaissi Syndrome |
|
Hypoplasia of the corpus callosum, Brachycephaly, High, narrow palate, Decreased head circumferen... |
OMIM:617694 |
| Left Ventricular Noncompaction 1 |
|
Congestive heart failure, Patent ductus arteriosus, Palpitations, Atrial fibrillation, Noncompact... |
OMIM:604169 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Plagiocephaly, Macrocephaly, Narrow mouth, Everted lower lip vermilion, Microcephaly, Downturned ... |
OMIM:618089 |
| Extracranial Carotid Artery Aneurysm |
|
Arteriosclerosis, Arteritis, Vasculitis, Stroke, Hypertension, Upper limb muscle weakness, Total ... |
ORPHA:494424 |
| Potocki-Shaffer Syndrome |
|
Brachycephaly, Short philtrum, Parietal foramina, Downturned corners of mouth, Micrognathia |
ORPHA:52022 |
| Craniosynostosis 6 |
|
Brachycephaly, Plagiocephaly, Turricephaly, Bicoronal synostosis, Dandy-Walker malformation, Pari... |
OMIM:616602 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Pyoderma gangrenosum, Alopecia |
OMIM:616576 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Parakeratosis, Thick hair, Dry skin, Sparse eyelashes, Sparse eyebrow, Sparse hair, Orthokeratosi... |
OMIM:607626 |
| Waardenburg Syndrome, Type 4A |
|
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... |
OMIM:277580 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Brachycephaly, Retrognathia, Flat occiput, Aplasia/Hypoplasia of the corpus callosum, High palate... |
ORPHA:505237 |
| Congenital Vertical Talus |
|
Myelomeningocele |
ORPHA:178382 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Brachycephaly, High palate, Dextrotransposition of the great arteries, Ventricular septal defect |
OMIM:619995 |
| Capillary Malformation-Arteriovenous Malformation |
|
Congestive heart failure, Abnormality of the musculature of the limbs, Abnormal bleeding, Arterio... |
ORPHA:137667 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Polyhydramnios, Short long bone, Postaxial polydactyly, Brachydactyly, Recurrent respiratory infe... |
OMIM:615633 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Cerebral atrophy, Brachycephaly, Hypoplasia of the corpus callosum, Dental crowding, Microcephaly |
OMIM:615031 |
| Grange Syndrome |
|
Bicuspid aortic valve, Renal artery stenosis, Carotid artery stenosis, Coronary artery stenosis |
OMIM:602531 |
| Braddock-Carey Syndrome 1 |
|
Anteriorly placed anus, Everted lower lip vermilion, Microcephaly, Enamel hypoplasia, Cleft palat... |
OMIM:619980 |
| Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology |
ORPHA:2978 |
| Sézary Syndrome |
|
Irregular hyperpigmentation, Nail dystrophy, Dry skin, Palmoplantar keratoderma, Alopecia |
ORPHA:3162 |
| Enlarged Parietal Foramina |
|
Venous malformation, Short clavicles, Parietal foramina, Cleft palate, Abnormal cerebral vein mor... |
ORPHA:60015 |
| Stevenson-Carey Syndrome |
|
Hypoplasia of the corpus callosum, Brachycephaly, Left superior vena cava draining to coronary si... |
OMIM:611961 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Brachycephaly, Short ribs, Hypertrophic cardiomyopathy, Microcephaly, Micrognathia, Cleft palate,... |
OMIM:616897 |
| Cronkhite-Canada Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Dystrophic fingernails, Dystrophic toenail, Patchy alopecia, A... |
ORPHA:2930 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Ischemic stroke, Congestive heart failure, Hydrocephalus, Prolonged QTc interval, Hypertension, C... |
ORPHA:90065 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Cerebellar vermis hypoplasia, Dandy-Walker malformation, Trigonocephaly, Micrognathia, Natal toot... |
OMIM:616901 |
| Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
ORPHA:337 |
| Acquired Von Willebrand Syndrome |
|
Prolonged prothrombin time, Gastrointestinal hemorrhage, Aortic regurgitation, Melena, Hypotensio... |
ORPHA:99147 |
| Williams-Beuren Region Duplication Syndrome |
|
Hypoplasia of the corpus callosum, Brachycephaly, Macrocephaly, Short philtrum, Cerebellar vermis... |
OMIM:609757 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Nail dysplasia, Sparse eyelashes, Sparse eyebrow, Alopecia |
OMIM:615704 |
| Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Microcephaly, Bacterial endocarditis, Micrognathia, Tooth agenesis |
ORPHA:1964 |
| Hypomandibular Faciocranial Dysostosis |
|
Brachycephaly, Maxillozygomatic hypoplasia, Narrow mouth, Trigonocephaly, Bifid uvula, Cleft pala... |
ORPHA:1790 |
| Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Meningocele |
ORPHA:2481 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Brachycephaly, Short philtrum, Narrow mouth, Microcephaly, Micrognathia, Wide mouth, Thick vermil... |
OMIM:615834 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Skin ulcer, Abnormal fingernail morphology, Sparse hair, Palmoplantar keratoderma, Erythema, Alop... |
ORPHA:659 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Micromelia, Pulmonary hypopla... |
OMIM:241800 |
| Orofaciodigital Syndrome V |
|
Aganglionic megacolon, High palate, Ankyloglossia, Microcephaly, Frontal bossing, Bifid tongue, B... |
OMIM:174300 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Spina bifida occulta, Arthrogryposis multiplex congenita, Flexion contracture, Skeletal muscle at... |
OMIM:618291 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Thin vermilion border, Macrocephaly, Patent foramen ovale, Abnormal vena cava morphology, Hypoint... |
ORPHA:163956 |
| Chopra-Amiel-Gordon Syndrome |
|
Brachycephaly, Macrocephaly, Short philtrum, Microcephaly, Cleft palate, Pierre-Robin sequence, S... |
OMIM:619504 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Intestinal atresia, Ventricular ... |
ORPHA:3405 |
| Primary Angiitis Of The Central Nervous System |
|
Stroke, Transient ischemic attack, Cerebral vasculitis, Intracranial hemorrhage |
ORPHA:140989 |
| Chiari Malformation Type Ii |
|
Hydrocephalus, Cervical myelopathy, Myelomeningocele, Spina bifida |
OMIM:207950 |
| Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Hypoplasia of the corpus callosum, Brachycephaly, Cerebral cortical atrophy, Downturned corners o... |
OMIM:618859 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Absent fingernail, Anonychia, Alopecia totalis, Alopecia universalis, Acantholysis |
OMIM:609638 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Brachycephaly, Thin vermilion border, Microcephaly, Intestinal malrotation, Velopharyngeal insuff... |
OMIM:614701 |
| Nphp3-Related Meckel-Like Syndrome |
|
Oligohydramnios, Polyhydramnios, Pulmonary hypoplasia |
ORPHA:3032 |
| Wrinkly Skin Syndrome |
|
Muscular ventricular septal defect, Delayed eruption of teeth, Progressive microcephaly, High pal... |
OMIM:278250 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Brachycephaly, Plagiocephaly, Widely spaced teeth, Patent foramen ovale, Mandibular prognathia, H... |
ORPHA:369891 |
| Trichotillomania |
|
Alopecia |
OMIM:613229 |
| Contractural Arachnodactyly, Congenital |
|
Brachycephaly, Aortic root aneurysm, High palate, Frontal bossing, Micrognathia, Dolichocephaly, ... |
OMIM:121050 |
| Bardet-Biedl Syndrome 8 |
|
Brachycephaly, Situs inversus totalis |
OMIM:615985 |
| Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele, Meningocele |
ORPHA:101030 |
| Dilated Cardiomyopathy With Ataxia |
|
Dilated cardiomyopathy, Muscular ventricular septal defect, Bilateral basal ganglia lesions |
ORPHA:66634 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Brachycephaly, Plagiocephaly, Aplasia/Hypoplasia of the corpus callosum, Type II lissencephaly, D... |
ORPHA:272 |
| Fetal Alcohol Syndrome |
|
Non-midline cleft of the upper lip, Microdontia, Biparietal narrowing, Microcephaly, Micrognathia... |
ORPHA:1915 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Retrognathia, Plagiocephaly, Trigonocephaly, Decreased calvarial ossification, Micrognathia, Clef... |
OMIM:618265 |
| Odontochondrodysplasia 1 |
|
Irregular epiphyses, Small epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Metaphy... |
OMIM:184260 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Hypoplasia of the corpus callosum, Brachycephaly, Microcephaly, Cerebral cortical atrophy, Downtu... |
ORPHA:352530 |
| Nicolaides-Baraitser Syndrome |
|
Excessive wrinkled skin, Curly eyelashes, Highly arched eyebrow, Long eyelashes, Abnormal hair pa... |
ORPHA:3051 |
| Alpha-1-Antitrypsin Deficiency |
|
Gastric varix, Hepatocellular carcinoma, Splenomegaly |
OMIM:613490 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
| Lambotte Syndrome |
|
Microcephaly, Retrognathia, Ventricular septal defect, Narrow mouth |
OMIM:245552 |
| Aplasia Cutis Congenita |
|
Skin ulcer, Finger syndactyly, Toe syndactyly, Spinal dysraphism, Erythema |
ORPHA:1114 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hypoplasia of the corpus callosum, Coarctation of aorta, Ventricular septal defect, Cleft palate |
OMIM:620210 |
| Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Brachycephaly |
ORPHA:404493 |
| Joubert Syndrome 18 |
|
Retrognathia, Cleft palate, Agenesis of cerebellar vermis, Lobulated tongue, Agenesis of corpus c... |
OMIM:614815 |
| Congenital Ichthyosiform Erythroderma |
|
Palmoplantar keratoderma, Abnormality of the nail, Alopecia |
ORPHA:79394 |
| Methanol Poisoning |
|
Hypertension, Permanent atrial fibrillation, Inflammatory arteriopathy, Cerebral hemorrhage, Intr... |
ORPHA:31825 |
| Bardet-Biedl Syndrome 4 |
|
Polydactyly, Syndactyly, Brachydactyly |
OMIM:615982 |
| Velocardiofacial Syndrome |
|
Retrognathia, Right aortic arch with mirror image branching, Interrupted aortic arch, Pulmonary a... |
OMIM:192430 |
| X-Linked Sideroblastic Anemia |
|
Pallor, Elevated circulating hepatic transaminase concentration, Splenomegaly |
ORPHA:75563 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Abnormal sweat gland morphology, Abnormality of the nail, Absent eyelashes, Sparse scalp hair, Ab... |
OMIM:607823 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Stillbirth, Elbow flexion contracture, Scapular winging, Internally rotated shoulders, Camptodact... |
OMIM:617468 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Secondary microcephaly, Accessory oral frenulum, Hypoplasia of the maxilla, Trigonocephaly, Micro... |
ORPHA:79113 |
| Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Plagiocephaly, Macrocephaly, Agenesis of corpus callosum |
ORPHA:459074 |
| Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
| Burn-Mckeown Syndrome |
|
Thin vermilion border, Short philtrum, Mandibular prognathia, Narrow mouth, Cleft upper lip, Micr... |
OMIM:608572 |
| Nevus Comedonicus Syndrome |
|
Preaxial polydactyly, Spina bifida occulta, Finger syndactyly, Spina bifida, Toe syndactyly |
ORPHA:64754 |
| Carpenter Syndrome 1 |
|
Cerebral atrophy, Brachycephaly, Transposition of the great arteries, Lambdoidal craniosynostosis... |
OMIM:201000 |
| Sabinas Brittle Hair Syndrome |
|
Nail dysplasia, Nail dystrophy, Brittle hair, Sparse hair, Dry hair |
OMIM:211390 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Brachycephaly, Abnormal zygomatic bone morphology, Mandibular prognathia, Microcephaly, Short pal... |
ORPHA:2511 |
| Muenke Syndrome |
|
Brachycephaly, Plagiocephaly, Macrocephaly, Cloverleaf skull, Short middle phalanx of toe, High p... |
OMIM:602849 |
| 1Q44 Microdeletion Syndrome |
|
Thin vermilion border, Exaggerated cupid's bow, High palate, Biparietal narrowing, Microcephaly, ... |
ORPHA:238769 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Dental crowding, Agenesis of permanent teeth, Wide mouth, Transposition of the great arteries, Mu... |
OMIM:619503 |
| Charge Syndrome |
|
Tracheoesophageal fistula, Absent tibia, Pulmonic stenosis, Microcephaly, Dysplastic tricuspid va... |
OMIM:214800 |
| Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis |
OMIM:226100 |
| Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
| 3C Syndrome |
|
Prominent occiput, Pulmonic stenosis, Abnormal mitral valve morphology, Aortic valve stenosis, In... |
ORPHA:7 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Aganglionic megacolon, Patent ductus arteriosus, Microcephaly, Micrognathia, Pachygyria, Agenesis... |
ORPHA:452 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Brachycephaly, Microcephaly, Micrognathia, Wide mouth, Smooth philtrum, Thin upper lip vermilion |
OMIM:615419 |
| Truncus Arteriosus |
|
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... |
ORPHA:3384 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... |
OMIM:612158 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Posterior plagiocephaly, Short lower limbs, Secundum atrial septal defect, Rhizomelic arm shortening |
ORPHA:96190 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Long philtrum, Plagiocephaly, Macrocephaly, Cavum septum pellucidum, Patent foramen ovale, Abnorm... |
ORPHA:457279 |
| Schisis Association |
|
Anencephaly, Encephalocele, Spina bifida |
ORPHA:63862 |
| Laurin-Sandrow Syndrome |
|
Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho... |
ORPHA:2378 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... |
OMIM:601493 |
| Ogden Syndrome |
|
Left atrial enlargement, Everted upper lip vermilion, Microcephaly, Cardiomegaly, Bicuspid aortic... |
OMIM:300855 |
| Craniofrontonasal Dysplasia |
|
Hypoplasia of the corpus callosum, Orofacial cleft, Brachycephaly, Plagiocephaly, High palate, Ab... |
ORPHA:1520 |
| Achondrogenesis Type 2 |
|
Delayed pubic bone ossification, Short long bone, Hypoplastic ilia, Micromelia, Delayed proximal ... |
ORPHA:93296 |
| Kleefstra Syndrome 1 |
|
Brachycephaly, Mandibular prognathia, Everted lower lip vermilion, Persistence of primary teeth, ... |
OMIM:610253 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Retrognathia, Perimembranous ventricular septal defect, Narrow mouth, Brachyturricephaly, Microce... |
ORPHA:83617 |
| Menkes Disease |
|
Brittle hair, Hypopigmentation of the skin, Cutis laxa, Sparse hair, Alopecia |
OMIM:309400 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Congenital diaphragmatic hernia, Atrioventricular canal defect, Abnormal aortic valve morphology,... |
ORPHA:1120 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Nail dystrophy, Hyperpigmentation of the skin, Alopecia, Atrichia, Congenital abnormal hair patte... |
ORPHA:1867 |
| Czeizel-Losonci Syndrome |
|
Spina bifida occulta, Hitchhiker thumb, Hydrocephalus, Single transverse palmar crease, Ectrodact... |
ORPHA:2437 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Brachycephaly, Frontal cortical atrophy, Macrocephaly |
OMIM:300699 |
| Cooper-Jabs Syndrome |
|
Brachycephaly, Missing ribs, Frontal bossing, Malar flattening, Ventricular septal defect, Anteri... |
ORPHA:1488 |
| Hemimegalencephaly |
|
Hyperintensity of cerebral white matter on MRI, Macrocephaly, Polymicrogyria, Cranial asymmetry, ... |
ORPHA:99802 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... |
ORPHA:99050 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Esophageal atresia, Progressive microcephaly, Microcephaly, Trigonocephaly, Micrognathia, Cleft p... |
OMIM:610536 |
| Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Intrauterine growth retardation, Pallor, Ch... |
OMIM:266200 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Brachycephaly, Short distal phalanx of toe, Biparietal narrowing, Microcephaly, Abnormal mitral v... |
ORPHA:1292 |
| Verheij Syndrome |
|
Cerebral atrophy, Retrognathia, Optic nerve hypoplasia, Truncus arteriosus, Microcephaly, Cleft p... |
OMIM:615583 |
| Craniorachischisis |
|
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida |
ORPHA:63260 |
| Microphthalmia, Syndromic 8 |
|
Orofacial cleft, Mandibular prognathia, Microcephaly, Cleft upper lip, Cleft palate, Widely-space... |
OMIM:601349 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Brachycephaly, Retrognathia, Microcephaly, Micrognathia, Abnormal heart morphology, Smooth philtrum |
OMIM:263210 |
| Hypoglossia With Situs Inversus |
|
Situs inversus totalis, Narrow mouth, High palate, Micrognathia, Microglossia, Hypodontia |
OMIM:612776 |
| Orofaciodigital Syndrome Viii |
|
Polydactyly, Short tibia, Recurrent aspiration pneumonia, Syndactyly |
OMIM:300484 |
| Ciliary Dyskinesia, Primary, 20 |
|
Situs inversus totalis, Dextrocardia, Persistent left superior vena cava, Aortic valve stenosis, ... |
OMIM:615067 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Brachycephaly, Lambdoidal craniosynostosis, Bicoronal synostosis, Optic nerve hypoplasia, Dandy-W... |
OMIM:618736 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Tongue telangiectasia, Ischemic stroke, Spinal arteriovenous malformation, High-output congestive... |
OMIM:610655 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:615228 |
| Familial Afibrinogenemia |
|
Abnormal bleeding, Epistaxis, Gingival bleeding, Cerebral hemorrhage |
ORPHA:98880 |
| Dermatitis, Atopic |
|
Pallor, Facial erythema, Dry skin |
OMIM:603165 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Narrow palate, Brachycephaly, Pulmonic stenosis, Cleft lip, Cleft palate, Patent ductus arteriosu... |
OMIM:618223 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Brachycephaly, Turricephaly, Micromelia, Micrognathia, Cleft palate, Malar flattening, Craniosyno... |
ORPHA:2145 |
| Vogt-Koyanagi-Harada Disease |
|
Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ... |
ORPHA:3437 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Anencephaly, Pulmonic stenosis, Microcephaly, Trigonocephaly, Left ventricular hypertrophy, Advan... |
OMIM:619148 |
| Noonan Syndrome 12 |
|
Ventricular septal defect, Tetralogy of Fallot, 11 pairs of ribs, Anteriorly placed anus |
OMIM:618624 |
| Lowry-Maclean Syndrome |
|
Retrognathia, High, narrow palate, Atrioventricular canal defect, Midgut malrotation, Talon cusp,... |
ORPHA:2409 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Plagiocephaly, Aganglionic megacolon, Short philtrum, Mandibular prognathia, Abnormal rectum morp... |
OMIM:239300 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Premature occlusive vascular stenosis, Arteriosclerosis, Angina pect... |
OMIM:177850 |
| Hypotrichosis 14 |
|
Sparse body hair, Short eyelashes, Sparse pubic hair, Sparse hair, Absent axillary hair |
OMIM:618275 |
| Craniosynostosis 2 |
|
Brachycephaly, Supernumerary tooth, Turricephaly, Cleft soft palate, Unicoronal synostosis, Bicor... |
OMIM:604757 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Stillbirth, Polyhydramnios, Rhizomelia, Severe limb shortening, Metaphyseal cupping, Hypoplastic ... |
OMIM:151210 |
| Piebaldism |
|
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... |
ORPHA:2884 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Hydrops fetalis, Short long bone, Flat acetabular roof, Bowing of the long bones, As... |
OMIM:614091 |
| Hemoglobin D Disease |
|
Pallor, Splenomegaly |
ORPHA:90039 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Epidermal hyperkeratosis, ... |
OMIM:137940 |
| Developmental And Epileptic Encephalopathy 65 |
|
Cerebral atrophy, Plagiocephaly, Tented upper lip vermilion, Microcephaly |
OMIM:618008 |
| Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
| Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
| Aortic Arch Interruption |
|
Transposition of the great arteries, Patent ductus arteriosus, Aortic valve atresia, Aortopulmona... |
ORPHA:2299 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Skin vesicle, Alopecia, Hypoplastic fingernail, Hyperconvex fingernails |
ORPHA:257 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Hypoplasia of the corpus callosum, Brachycephaly, Plagiocephaly, Thick lower lip vermilion, Abnor... |
ORPHA:261652 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Narrow palate, Hypoplasia of the corpus callosum, Plagiocephaly, Microcephaly, Cerebral cortical ... |
OMIM:617481 |
| Williams Syndrome |
|
Abnormal carotid artery morphology, Everted lower lip vermilion, Tracheoesophageal fistula, Micro... |
ORPHA:904 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Thin vermilion border, Plagiocep... |
OMIM:617360 |
| Fg Syndrome Type 1 |
|
Prominent occiput, Optic nerve hypoplasia, Dental crowding, Wide mouth, Mitral valve prolapse, Ma... |
ORPHA:93932 |
| Kury-Isidor Syndrome |
|
Brachycephaly, Widely spaced teeth, Triangular mouth, High palate, Frontal bossing, Tented upper ... |
OMIM:619762 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect, Aganglionic megacolon |
OMIM:235750 |
| Kleefstra Syndrome |
|
Pyloric stenosis, Brachycephaly, Advanced eruption of teeth, Delayed eruption of teeth, Mandibula... |
ORPHA:261494 |
| Al-Gazali-Bakalinova Syndrome |
|
Polydactyly, Genu valgum, Lymphedema, Epiphyseal dysplasia, Clinodactyly, Flattened epiphysis, Ta... |
OMIM:607131 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Abnormal palate morphology, Tetralogy of Fallot, Anal atresia |
ORPHA:1381 |
| Agnathia-Otocephaly Complex |
|
Situs inversus totalis, Narrow mouth, Mandibular aplasia, Micrognathia, Secundum atrial septal de... |
OMIM:202650 |
| Aase-Smith Syndrome I |
|
Dandy-Walker malformation, Ventricular septal defect, Cleft palate, Open mouth |
OMIM:147800 |
| Cerebral Amyloid Angiopathy, App-Related |
|
Cerebellar hemorrhage, Stroke, Tortuous cerebral arteries, Cerebral ischemia, Recurrent cerebral ... |
OMIM:605714 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Meckel Syndrome, Type 8 |
|
Polydactyly, Occipital encephalocele, Encephalocele, Pericardial effusion, Talipes equinovarus |
OMIM:613885 |
| Viss Syndrome |
|
Retrognathia, Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Coronary sin... |
OMIM:619472 |
| Thanatophoric Dysplasia |
|
Abnormal metaphysis morphology, Polyhydramnios, Abnormal ilium morphology, Hydrocephalus, Abnorma... |
ORPHA:2655 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Plagiocephaly, Short philtrum, Polymicrogyria, Tooth agenesis, Microcephaly, Downturned corners o... |
OMIM:618731 |
| Thanatophoric Dysplasia, Type I |
|
Polyhydramnios, Short greater sciatic notch, Hydrocephalus, Flared metaphysis, Short long bone, F... |
OMIM:187600 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Cerebral atrophy, Long philtrum, Thick lower lip vermilion, Dandy-Walker malformation, Gingival o... |
OMIM:220500 |
| Beta-Thalassemia |
|
Skin ulcer, Hepatomegaly, Cholelithiasis, Splenomegaly, Pallor, Hepatitis |
ORPHA:848 |
| Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... |
ORPHA:79435 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematemesis, Abnormal vascular morphology, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena... |
ORPHA:464321 |
| Fetal Gaucher Disease |
|
Stillbirth, Neonatal death, Flexion contracture, Intracranial hemorrhage, Arthrogryposis multiple... |
ORPHA:85212 |
| Cleft Lip/Palate |
|
Orofacial cleft, Abnormal number of permanent teeth, Peg-shaped maxillary lateral incisors, Palat... |
ORPHA:199306 |
| Warsaw Breakage Syndrome |
|
High palate, Microcephaly, Tetralogy of Fallot, Wide mouth, Ventricular septal defect |
OMIM:613398 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus, Intracranial hemorrhage |
ORPHA:398189 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cleft upper lip, Ventricular septal defect, Cleft palate |
OMIM:214300 |
| Potocki-Shaffer Syndrome |
|
Brachycephaly, Turricephaly, Short philtrum, Parietal foramina, Downturned corners of mouth |
OMIM:601224 |
| Teebi Hypertelorism Syndrome 1 |
|
Aortic root aneurysm, Dental crowding, Coronal craniosynostosis, Frontal bossing, Micrognathia, N... |
OMIM:145420 |
| X-Linked Intellectual Disability, Wilson Type |
|
Brachycephaly, Mandibular prognathia, Microcephaly, Wide mouth, Thick vermilion border |
ORPHA:85290 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse body hair, Alopecia |
ORPHA:69735 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Macrocephaly, Short philtrum, Dental crowding, Ascending tubular aorta aneurysm, High palate, Hyp... |
OMIM:309520 |
| Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
| Vascular Hyalinosis |
|
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
| Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Cerebellar vermis hypoplasia, Pulmonic stenosis, Microcephaly, Mic... |
OMIM:619123 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Alopecia |
OMIM:203550 |
| Meckel Syndrome, Type 2 |
|
Polydactyly, Anencephaly, Encephalocele, Meningocele, Postaxial hand polydactyly, Bowing of the l... |
OMIM:603194 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Secondary microcephaly, Hypoplasia of the corpus callosum, Brachycephaly, 11 pairs of ribs, Cereb... |
OMIM:620073 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Long philtrum, Brachycephaly, Tented upper lip vermilion, Short corpus callosum |
OMIM:619972 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Pulmonary edema, Edema |
OMIM:178400 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Brachycephaly, Retrognathia, Thin vermilion border, Macrocephaly, Mandibular prognathia, Gingival... |
OMIM:212066 |
| Familial Multiple Nevi Flammei |
|
Arteriovenous malformation, Venous insufficiency, Intracranial hemorrhage, Arrhythmia, Pulmonary ... |
ORPHA:624 |
| Thoraco-Abdominal Enteric Duplication |
|
Meningocele |
ORPHA:1759 |
| Atrial Standstill |
|
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... |
ORPHA:1344 |
| Left Ventricular Noncompaction 10 |
|
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... |
OMIM:615396 |
| Pseudodiastrophic Dysplasia |
|
Brachycephaly, Rhizomelia, Frontal bossing, Micrognathia, Hypoplasia of the odontoid process, Mal... |
OMIM:264180 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Nail dystrophy, Yellow nails, Ridged nail, Sparse lateral eyebrow, Onycholysis, Alopecia |
OMIM:614564 |
| Meckel Syndrome, Type 3 |
|
Polydactyly, Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Postaxial foot p... |
OMIM:607361 |
| Meckel Syndrome 14 |
|
Pneumothorax, Occipital encephalocele, Postaxial hand polydactyly, Bowing of the long bones, Tric... |
OMIM:619879 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio... |
OMIM:610338 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Flexion contracture, Congenital pyloric atresia |
OMIM:612138 |
| Incontinentia Pigmenti |
|
Nail dysplasia, Breast hypoplasia, Nail dystrophy, Erythema, Ridged nail, Breast aplasia, Onychog... |
OMIM:308300 |
| Atelosteogenesis Type Ii |
|
Sandal gap, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, Rhizomelia, Elbow flexion... |
ORPHA:56304 |
| Smith-Magenis Syndrome |
|
Brachycephaly, Orofacial cleft, Everted upper lip vermilion, Mandibular prognathia, Abnormality o... |
OMIM:182290 |
| Adams-Oliver Syndrome 6 |
|
Esophageal varix, Truncus arteriosus, Ventricular septal defect, Foot oligodactyly, Calvarial sku... |
OMIM:616589 |
| Orofacial Cleft 13 |
|
Retrognathia, Cleft soft palate, Oligodontia, Micrognathia, Malar flattening |
OMIM:613857 |
| Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Brachycephaly, Retrognathia, Thin vermilion border, High, narrow palate, Short philtrum, Microdon... |
ORPHA:2707 |
| Serrated Polyposis Syndrome |
|
Gastric diverticulum, Colorectal polyposis, Biliary tract neoplasm, Neoplasm of the large intesti... |
ORPHA:157798 |
| Piebald Trait |
|
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... |
OMIM:172800 |
| Nephrotic Syndrome, Type 11 |
|
High palate, Micrognathia, Cleft palate, Smooth philtrum, Cleft lip, Ventricular septal defect, D... |
OMIM:616730 |
| Fetal Encasement Syndrome |
|
Upper limb undergrowth, Tetralogy of Fallot, Lower limb undergrowth |
OMIM:613630 |
| 19P13.12 Microdeletion Syndrome |
|
Hypoplasia of the corpus callosum, Thin vermilion border, Brachycephaly, Aplasia/Hypoplasia of th... |
ORPHA:254346 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Focal pancreatic islet hyperplasia, Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia |
ORPHA:276575 |
| Tyshchenko Syndrome |
|
Narrow palate, Hypoplasia of the corpus callosum, High, narrow palate, High palate, Pulmonic sten... |
OMIM:615102 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Hyperpigmentation of the skin, Brittle hair |
ORPHA:50812 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Cerebral atrophy, Macrocephaly, Patent ductus arteriosus, Pulmonary artery atresia, Supravalvar p... |
OMIM:618164 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
Brachycephaly, Thick lower lip vermilion, Mandibular prognathia, High palate, Frontal bossing, Te... |
OMIM:615828 |
| Hyperekplexia 2 |
|
Gastroesophageal reflux, Exaggerated startle response, Hiatus hernia |
OMIM:614619 |
| Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
| Meckel Syndrome, Type 4 |
|
Hydrocephalus, Anencephaly, Encephalocele, Meningocele |
OMIM:611134 |
| Cardiac Diverticulum |
|
Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Aplasia/Hypopl... |
ORPHA:1686 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Brachycephaly, Focal T2 hyperintense basal ganglia lesion, Hypertrophic cardiomyopathy, Stroke-li... |
ORPHA:70472 |
| Sifrim-Hitz-Weiss Syndrome |
|
Macrocephaly, Short clavicles, Trigonocephaly, Coarctation of aorta, Bifid uvula, Tetralogy of Fa... |
OMIM:617159 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Hyperkeratosis, Dry skin, Sparse eyelashes, Sparse eyebrow, Alopecia |
OMIM:610768 |
| Monosomy 18P |
|
Brachycephaly, Short philtrum, Tooth malposition, Microcephaly, Carious teeth, Micrognathia, Clef... |
ORPHA:1598 |
| Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
| Doors Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Prominent occiput, Broad alveolar ridges, Mic... |
ORPHA:79500 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Retrognathia, Macrocephaly, High palate, Cleft palate, Agenesis of corpus callosum, Patent ductus... |
ORPHA:52055 |
| Muenke Syndrome |
|
Brachycephaly, Plagiocephaly, High, narrow palate, Macrocephaly, Coronal craniosynostosis, Short ... |
ORPHA:53271 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Microcephaly, ... |
OMIM:617478 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus |
OMIM:126320 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Global brain atrophy, Brachycephaly, Plagioc... |
OMIM:616801 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia |
ORPHA:276556 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Preaxial polydactyly, Polyhydramnios, Short long bone, Femoral bowing, Acetabular spurs, Postaxia... |
OMIM:615503 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Larsen-Like Syndrome, Lethal Type |
|
Pulmonary insufficiency, Neonatal death, Pulmonary hypoplasia |
OMIM:245650 |
| Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Hypoplasia of the corpus callosum, Brachycephaly, Plagiocephaly, High palate, Microcephaly, Thin ... |
OMIM:618862 |
| Parietal Foramina 1 |
|
Cleft upper lip, Parietal foramina, Macrocephaly, Cleft palate |
OMIM:168500 |
| Peeling Skin Syndrome 6 |
|
Scaling skin, Parakeratosis, Orthokeratosis, Dry skin |
OMIM:618084 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Cerebral atrophy, Brachycephaly, Global brain atrophy, Microcephaly, Pericardial effusion, Fronta... |
OMIM:608776 |
| Chime Syndrome |
|
Brachycephaly, Pulmonary valve atresia, Supernumerary tooth, Transposition of the great arteries,... |
ORPHA:3474 |
| Ververi-Brady Syndrome |
|
Transposition of the great arteries, High palate, Everted lower lip vermilion, Microcephaly, Wide... |
OMIM:617982 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Brachycephaly, Abnormal palate morphology, Turricephaly, Hypoplasia of the maxilla, Frontal bossi... |
ORPHA:93262 |
| Waardenburg Syndrome Type 1 |
|
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... |
ORPHA:894 |
| Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Brachycephaly, Dental crowding, Micrognathia, Downturned corners of mouth, Smooth philtrum, Long ... |
OMIM:615761 |
| Bardet-Biedl Syndrome 9 |
|
Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Postax... |
OMIM:615986 |
| Alpha-Heavy Chain Disease |
|
Alopecia |
ORPHA:100025 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Brachycephaly, Mandibular prognathia, Open bite, High palate, Narrow mouth, Microcephaly, Downtur... |
ORPHA:1327 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor, Pancreatic islet-cell hyperplasia |
ORPHA:276608 |
| Tibial Hemimelia |
|
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Myelomeningocele... |
ORPHA:93322 |
| Cebalid Syndrome |
|
Brachycephaly, Plagiocephaly, Turricephaly, Polymicrogyria, High palate, Platystencephaly, Dolich... |
OMIM:618774 |
| Microphthalmia, Syndromic 2 |
|
Pulmonic stenosis, Aortic valve stenosis, Microcephaly, Bifid uvula, Mitral valve prolapse, Long ... |
OMIM:300166 |
| Hypomelanosis Of Ito |
|
Macular hypopigmented whorls, streaks, and patches, Alopecia |
OMIM:300337 |
| Familial Benign Chronic Pemphigus |
|
Skin vesicle, Hyperkeratosis, Acantholysis, Erythema |
ORPHA:2841 |
| Orofaciodigital Syndrome Xvii |
|
Retrognathia, High, narrow palate, Tetralogy of Fallot, Short middle phalanx of the 2nd finger, M... |
OMIM:617926 |
| Distal Deletion 3P |
|
Brachycephaly, Thin vermilion border, Atrioventricular canal defect, High palate, Microcephaly, M... |
ORPHA:1620 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Brachycephaly, Plagiocephaly, Short philtrum, High palate, Dolichocephaly, Agenesis of corpus cal... |
OMIM:615433 |
| 3Q29 Microduplication Syndrome |
|
Macrocephaly, Ectopic anus, High palate, Abnormality of the dentition, Biparietal narrowing, Micr... |
ORPHA:251038 |
| Atrial Septal Defect 1 |
|
Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of... |
OMIM:108800 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
| Seckel Syndrome 9 |
|
Pulmonary artery hypoplasia, Microcephaly, Micrognathia, Dolichocephaly, Simplified gyral pattern... |
OMIM:616777 |
| Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
| Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Hyperkeratosis, Hypopigmentation of the skin, Iris hypopigmentation, Al... |
ORPHA:79431 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Brachycephaly, Posterior plagiocephaly, Macrocephaly, Thick corpus callosum, Microcephaly, Intest... |
OMIM:617798 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Left atrial enlargement, Retrognathia, Ventricular hypertrophy, Cardiomyopathy, Everted lower lip... |
OMIM:300280 |
| Joubert Syndrome 16 |
|
Polydactyly, Encephalocele |
OMIM:614465 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular... |
OMIM:617102 |
| Criss-Cross Heart |
|
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... |
ORPHA:1461 |
| Galloway-Mowat Syndrome 7 |
|
High palate, Microcephaly, Cleft lip, Micrognathia, Cleft palate, Smooth philtrum, Dilated cardio... |
OMIM:618348 |
| Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
| Distal Duplication 5Q |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Thin vermilion border, Dextrocardia, Narrow mou... |
ORPHA:96097 |
| Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage, Left ventricular hypertr... |
ORPHA:251274 |
| Hemifacial Atrophy, Progressive |
|
Patchy alopecia, Poliosis |
OMIM:141300 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hepatic arteriovenous malformation, Aortic aneurysm, Telangiectasia, Stroke, Aortic dissection, E... |
OMIM:175050 |
| Xq28 (MECP2) duplication |
|
Brachycephaly, Hypoplasia of the corpus callosum, Narrow mouth, Microcephaly, Malar flattening |
DECIPHER:45 |
| Localized Junctional Epidermolysis Bullosa |
|
Dystrophic fingernails, Nail dystrophy, Scarring alopecia of scalp, Dystrophic toenail, Sparse pu... |
ORPHA:251393 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Widely spaced teeth, Short philtrum, High palate, Microcephaly, Cleft upper lip, Trigonocephaly, ... |
OMIM:612530 |
| Achard Syndrome |
|
Brachycephaly, Micrognathia, Broad skull |
OMIM:100700 |
| Band Heterotopia |
|
Plagiocephaly, Macrocephaly, Polymicrogyria, Agenesis of corpus callosum, Subcortical band hetero... |
OMIM:600348 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Fusiform ascending tubular aorta aneurysm, Coronary artery atherosclerosis, Aortic root aneurysm,... |
OMIM:617168 |
| Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Glossoptosis, Everted lower lip vermilion, Hypoplasia of the maxilla, Micrognath... |
OMIM:616367 |
| Toriello-Carey Syndrome |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal palate morphology, Aganglionic mega... |
ORPHA:3338 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia |
ORPHA:276580 |
| Lymphatic Malformation 8 |
|
Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ... |
OMIM:618773 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| 2Q23.1 Microdeletion Syndrome |
|
Brachycephaly, Everted lower lip vermilion, Microcephaly, Short palm, Malar flattening, Tented up... |
ORPHA:228402 |
| Diaphanospondylodysostosis |
|
Myelomeningocele |
ORPHA:66637 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Pulmonary hypoplasia, Bilateral talipes equinovarus |
OMIM:618174 |
| Seckel Syndrome 5 |
|
Retrognathia, Abnormal cortical gyration, 11 pairs of ribs, Oligodontia, Selective tooth agenesis... |
OMIM:613823 |
| Loeys-Dietz Syndrome 5 |
|
Brachycephaly, Retrognathia, Cleft soft palate, Aortic root aneurysm, Patent foramen ovale, High ... |
OMIM:615582 |
| Grant Syndrome |
|
Brachycephaly, Abnormal palate morphology, Open bite, Frontal bossing, Micrognathia |
ORPHA:2097 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Brachycephaly, High palate, Pyloric stenosis, Frontal bossing, Craniosynostosis, Thin upper lip v... |
ORPHA:314575 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Alopecia |
OMIM:616353 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypotension, Tricuspid regurgitation, Neonatal death, Cerebral hemorrhage, Left ventricular dilat... |
OMIM:620300 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Stroke, Coronary artery stenosis |
OMIM:615812 |
| Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Orofacial cleft, Polymicrogyria, Intestinal malrotation, Tetralogy of... |
ORPHA:2328 |
| Hyperekplexia 3 |
|
Gastroesophageal reflux, Exaggerated startle response, Hiatus hernia |
OMIM:614618 |
| Leishmaniasis |
|
Skin ulcer, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Splenomegaly, ... |
ORPHA:507 |
| Fryns Syndrome |
|
Abnormal aortic arch morphology, Intestinal malrotation, Wide mouth, Long philtrum, Short distal ... |
ORPHA:2059 |
| Baller-Gerold Syndrome |
|
Brachycephaly, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the patella, High palate, N... |
ORPHA:1225 |
| Noonan Syndrome 13 |
|
Plagiocephaly, Widely spaced teeth, Cavum septum pellucidum, High palate, Microdontia, Microcepha... |
OMIM:619087 |
| Bardet-Biedl Syndrome 22 |
|
Polydactyly, Postaxial foot polydactyly |
OMIM:617119 |
| Acquired Purpura Fulminans |
|
Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Intracranial hemorrhage, Shock |
ORPHA:49566 |
| Primary Myelofibrosis |
|
Purpura, Hepatomegaly, Petechiae, Portal hypertension, Ecchymosis, Splenomegaly, Hepatosplenomega... |
ORPHA:824 |
| Fixed Subaortic Stenosis |
|
Pulmonic stenosis, Abnormal heart morphology, Diastolic heart murmur, Cardiomegaly, Left ventricu... |
ORPHA:3092 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Brachycephaly |
ORPHA:35099 |
| Sweeney-Cox Syndrome |
|
Brachycephaly, Flat occiput, Short philtrum, Short clavicles, Patent foramen ovale, High palate, ... |
OMIM:617746 |
| Intellectual Developmental Disorder, Autosomal Dominant 74 |
|
Microcephaly, Brachycephaly, Thin upper lip vermilion, Smooth philtrum |
OMIM:620688 |
| X-Linked Intellectual Disability, Armfield Type |
|
Brachycephaly, Macrocephaly, Short philtrum, Abnormal cardiac septum morphology, Mandibular progn... |
ORPHA:85276 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypertension, Ventricular hypertrophy, Pulmonary arterial hypertension, Epistaxis, Intracranial h... |
ORPHA:369929 |
| Left Ventricular Noncompaction 8 |
|
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... |
OMIM:615373 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Polyhydramnios, Proximal placement of thumb, Hydrocephalus, Hand polydactyly, Short humerus, Pulm... |
OMIM:314390 |
| Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Anencephaly, Postaxial hand polydactyly, Camptodactyly, Postaxial polyda... |
OMIM:614175 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Dilatat... |
OMIM:187300 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Brachycephaly, Frontal bossing, Secundum atrial septal defect, Wide mouth, Thin upper lip vermilion |
OMIM:608688 |
| Lethal Congenital Contracture Syndrome 1 |
|
Edema, Neonatal death, Pulmonary hypoplasia |
OMIM:253310 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Retrognathia, Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Dysplastic ... |
OMIM:265380 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Cerebral atrophy, Hypoplasia of the ulna, Brachycephaly, Macrocephaly, Lambdoidal craniosynostosi... |
OMIM:615398 |
| Microcephaly-Micromelia Syndrome |
|
Aqueductal stenosis, Oligodactyly, Forearm undergrowth, Micromelia, Humeroradial synostosis, Neon... |
OMIM:251230 |
| Fibromuscular Dysplasia, Arterial |
|
Stroke, Aortic dissection, Intermittent claudication, Renovascular hypertension, Arterial fibromu... |
OMIM:135580 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Toe syndactyly, Pulmonary hypoplasia, Syndactyly, Clinodactyly of the 5th finger |
OMIM:601163 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Narrow palate, Plagiocephaly, Mandibular prognathia |
OMIM:615516 |
| Orofaciodigital Syndrome Type 10 |
|
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... |
ORPHA:2756 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia |
OMIM:188740 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Abnormal lung lobation, Stillbirth, Femoral bowing, Hypertrophic cardiomyopathy, Aortic valve ste... |
OMIM:615415 |
| Cardiospondylocarpofacial Syndrome |
|
Muscular ventricular septal defect, Hypoplastic aortic arch, Patent foramen ovale, Wide mouth, Dy... |
OMIM:157800 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Growth delay, Elevated hepatic iron concentration, Splenomegaly, Pallor |
OMIM:615234 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia |
OMIM:618840 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures |
|
Dental crowding, Frontal bossing, Plagiocephaly |
OMIM:619264 |
| Oculofaciocardiodental Syndrome |
|
Abnormal palate morphology, Solitary median maxillary central incisor, Delayed eruption of teeth,... |
ORPHA:2712 |
| Developmental And Epileptic Encephalopathy 110 |
|
Hypoplasia of the corpus callosum, Posterior plagiocephaly, High palate, Microcephaly, Tented upp... |
OMIM:620149 |
| Say Syndrome |
|
Microcephaly, Short distal phalanx of finger, Micrognathia, Cleft palate |
OMIM:181180 |
| Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Petechiae, Iris hypopigmentation, Partial al... |
ORPHA:79477 |
| Recombinant 8 Syndrome |
|
Gingival overgrowth, Abnormality of the anus, Abnormality of the dentition, Pulmonary artery sten... |
ORPHA:96167 |
| Auriculocondylar Syndrome |
|
Macrocephaly, Abnormality of the temporomandibular joint, Mandibular condyle hypoplasia, Dental c... |
ORPHA:137888 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:177910 |
| Ohdo Syndrome, Sbbys Variant |
|
Prominent occiput, Microdontia, Microcephaly, Micrognathia, Cleft palate, Dilated cardiomyopathy,... |
OMIM:603736 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1 |
|
Hypoplasia of the pons, Cerebellar hypoplasia, Macrocephaly, Plagiocephaly |
OMIM:607313 |
| Rapp-Hodgkin Syndrome |
|
Nail dystrophy, Pili canaliculi, Decreased number of sweat glands, Small nail, Slow-growing hair,... |
OMIM:129400 |
| Weill-Marchesani Syndrome 1 |
|
Narrow palate, Brachycephaly, Tooth malposition, Broad skull, Pulmonic stenosis, Aortic valve ste... |
OMIM:277600 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus, Preaxial polydactyly |
ORPHA:141333 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor, Hepatomegaly |
ORPHA:324575 |
| Primary Pulmonary Hypoplasia |
|
Patellar hypoplasia, Dextrocardia, Microcephaly, Micrognathia, Secundum atrial septal defect, Cle... |
ORPHA:2257 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Bicoronal synostosis, Dental crowding, Patent foramen ovale, Oligodontia, Micro... |
OMIM:619184 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Retrognathia, Plagiocephaly, Macrocephaly, Glossoptosis, High palate, Microcephaly, Micrognathia,... |
OMIM:254940 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Hypoplasia of the corpus callosum, Plagiocephaly, Flat occiput, Cavum septum pellucidum, Cerebell... |
OMIM:619383 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Plagiocephaly, Short philtrum, High palate, Microcephaly, Micrognathia, Smooth philtrum, Cerebell... |
OMIM:619188 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Hydrops fetalis, Encephalocele, Clubbing of fingers, Hydrocephalus, Hypoplastic pubic bone, Short... |
ORPHA:1865 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
| White-Sutton Syndrome |
|
Hypoplasia of the corpus callosum, Cerebral atrophy, Thin vermilion border, Thin corpus callosum,... |
OMIM:616364 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Hypoplasia of the corpus callosum, Plagiocephaly, Atrioventricular canal defect, Ascending tubula... |
ORPHA:453499 |
| Summitt Syndrome |
|
Short 4th metacarpal, Plagiocephaly, Macrocephaly, Short palm, Craniosynostosis |
ORPHA:3210 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Brachycephaly, Mandibular prognathia, Microcephaly, Cleft upper lip, Cleft palate, Malar flattening |
OMIM:268850 |
| Crouzon Syndrome |
|
Narrow palate, Brachycephaly, Turricephaly, Multiple suture craniosynostosis, Hypoplasia of the m... |
ORPHA:207 |
| Marshall Syndrome |
|
Brachycephaly, Thick lower lip vermilion, Cerebral calcification, High palate, Abnormality of the... |
ORPHA:560 |
| Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Microcephaly |
ORPHA:1667 |
| Kaufman Oculocerebrofacial Syndrome |
|
Hypoplasia of the corpus callosum, Brachycephaly, High palate, Narrow mouth, Microcephaly, Cariou... |
OMIM:244450 |
| Osteogenesis Imperfecta, Type Xx |
|
Narrow palate, Retrognathia, Brachycephaly, Plagiocephaly, Mandibular prognathia, High palate, Mi... |
OMIM:618644 |
| Hermansky-Pudlak Syndrome 3 |
|
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:614072 |
| Beta-Thalassemia Intermedia |
|
Decreased liver function, Cirrhosis, Jaundice, Skin ulcer, Hepatomegaly, Cholelithiasis, Hepatoce... |
ORPHA:231222 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Plagiocephaly, Macrocephaly |
OMIM:618725 |
| Erythrocytosis, Familial, 2 |
|
Stroke, Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage, Varicose veins |
OMIM:263400 |
| Pentalogy Of Cantrell |
|
Orofacial cleft, Anencephaly, Non-midline cleft of the upper lip, Abnormal pericardium morphology... |
ORPHA:1335 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Hypoplasia of the corpus callosum, Plagiocephaly, Thin corpus callosum, Patent ductus arteriosus,... |
OMIM:613457 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Prolonged prothrombin time, Abnormal bleeding, Joint hemorrhage, Epistaxis, Cerebral hemorrhage, ... |
OMIM:277450 |
| Acrodermatitis Enteropathica |
|
Skin ulcer, Ridged nail, Abnormality of the nail, Dry skin, Abnormal eyebrow morphology, Ridged f... |
ORPHA:37 |
| Tetraploidy |
|
Short philtrum, Biparietal narrowing, Microcephaly, Micrognathia, Cleft palate |
ORPHA:3305 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Nail dystrophy, Dystrophic fingernails, Highly arched eyebrow,... |
ORPHA:3253 |
| Gomez-Lopez-Hernandez Syndrome |
|
Brachycephaly, Thin vermilion border, Turricephaly, Cerebellar vermis hypoplasia, High palate, Ag... |
OMIM:601853 |
| Cat Eye Syndrome |
|
Rectal fistula, Tricuspid atresia, Anal stenosis, Rectal atresia, Meckel diverticulum, Total anom... |
OMIM:115470 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Plagiocephaly, Megalencephaly, Macrocephaly, Aganglionic megacolon, Short philtrum, Turricephaly,... |
OMIM:613603 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Hypotension, Epistaxis, Cerebral hemor... |
ORPHA:99828 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Brachycephaly, Triangular mouth, Dandy-Walker malformation, Cerebral hypoplasia, Pulmonic stenosi... |
OMIM:257300 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Brachycephaly, Hemiatrophy of upper limb, High palate, Anterior plagiocephaly, Frontal bossing, M... |
ORPHA:163649 |
| Aortic Valve Disease 2 |
|
Calcification of the aorta, Aortic aneurysm, Patent foramen ovale, Aortic tortuosity, Pulmonic st... |
OMIM:614823 |
| Familial Atrial Myxoma |
|
Congestive heart failure, Vascular dilatation, Bacterial endocarditis, Cardiac myxoma, Tricuspid ... |
ORPHA:615 |
| Flynn-Aird Syndrome |
|
Skin ulcer, Alopecia |
ORPHA:2047 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hypoplasia of the radius, Solitary median maxillary central incisor, High palate, Finger aplasia,... |
OMIM:602418 |
| Momo Syndrome |
|
Brachycephaly, Macrocephaly, Thick lower lip vermilion, Delayed eruption of teeth, High palate, S... |
OMIM:157980 |
| Propionic Acidemia |
|
Short stature, Cerebellar hemorrhage, Cardiomyopathy, Limb hypertonia |
OMIM:606054 |
| Lethal Congenital Contracture Syndrome 5 |
|
Retinal hemorrhage, Congenital contracture, Centrally nucleated skeletal muscle fibers, Flexion c... |
OMIM:615368 |
| Larsen-Like Syndrome |
|
Brachycephaly, Macrocephaly, Frontal bossing, Cleft palate, Malar flattening, Dental malocclusion |
OMIM:608545 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Brachycephaly, Abnormal palate morphology, Plagiocephaly, Abnormal dental enamel morphology, Ecto... |
ORPHA:85199 |
| Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
| Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
| Non-Functioning Paraganglioma |
|
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... |
ORPHA:94080 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Hypopigmented skin patches, Alopecia |
ORPHA:3143 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Cerebral atrophy, Brachycephaly, Short philtrum, High palate, Corpus callosum atrophy, Microcepha... |
OMIM:619244 |
| Phaver Syndrome |
|
Hypoplastic aortic arch, Pulmonary artery atresia, Myelomeningocele, Camptodactyly of finger, Coa... |
ORPHA:2876 |
| Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
| Isolated Posterior Meningocele |
|
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele |
ORPHA:268810 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Plagiocephaly, Thin corpus callosum, Widely spaced teeth, Short philtrum, Exaggerated cupid's bow... |
OMIM:619293 |
| Cleidocranial Dysplasia |
|
Brachycephaly, Supernumerary tooth, High, narrow palate, Macrocephaly, Delayed eruption of teeth,... |
ORPHA:1452 |
| Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly, Tricuspid regurgitation |
OMIM:600151 |
| Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Anencephaly, Talipes equinovarus, Hydrocephalus, Postaxial hand polydact... |
OMIM:612284 |
| Intellectual Disability-Strabismus Syndrome |
|
Hypoplasia of the corpus callosum, Plagiocephaly, High palate, Abnormality of the dentition, Micr... |
ORPHA:363528 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Non-midline cleft of the upper lip, Abnormality of the philtrum, Biparietal narrowing, Cleft pala... |
ORPHA:1770 |
| Microcephaly 13, Primary, Autosomal Recessive |
|
Restrictive cardiomyopathy, Short foot, Microcephaly, Micrognathia, Simplified gyral pattern, Cer... |
OMIM:616051 |
| Evans Syndrome |
|
Petechiae, Pallor, Jaundice |
ORPHA:1959 |
| Isotretinoin Syndrome |
|
Micrognathia, Cleft palate, Biparietal narrowing |
ORPHA:2305 |
| Cyclic Vomiting Syndrome |
|
Growth delay, Pallor |
OMIM:500007 |
| Satoyoshi Syndrome |
|
Alopecia universalis, Alopecia |
OMIM:600705 |
| Achondroplasia |
|
Narrow greater sciatic notch, Limited elbow extension, Polyhydramnios, Rhizomelia, Ulnar bowing, ... |
OMIM:100800 |
| Desmosterolosis |
|
Macrocephaly, Rhizomelia, Gingival fibromatosis, Relative macrocephaly, Total anomalous pulmonary... |
OMIM:602398 |
| Weiss-Kruszka Syndrome |
|
Hypoplasia of the corpus callosum, Exaggerated cupid's bow, Dextrotransposition of the great arte... |
OMIM:618619 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Prolonged prothrombin time, Congestive heart failure, Cerebellar hemorrhage, EMG: myopathic abnor... |
ORPHA:99901 |
| ERI1-related disease |
|
Brachycephaly, High palate, Trigonocephaly, Frontal bossing, Micrognathia, Abnormal heart morphol... |
OMIM:608739 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Fine hair, Generalized hirsutism, Hypopigmentation of hair |
ORPHA:2221 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Cleft upper lip, Coarctation of aorta, Cleft palate, Tetralogy of Fallot, Patent ductus arteriosu... |
OMIM:600460 |
| Systemic Lupus Erythematosus 17 |
|
Alopecia |
OMIM:301080 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Pallor |
ORPHA:49827 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Aqueductal stenosis, Abnormal fibula morphology, Tibial bowing, Bowing of the long bones, Pulmona... |
ORPHA:3035 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor, Jaundice, Hepatomegaly |
OMIM:613839 |
| Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia |
OMIM:614435 |
| Hypohidrotic Ectodermal Dysplasia |
|
Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor... |
ORPHA:238468 |
| Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Microcephaly, Brachycephaly |
OMIM:309541 |
| Cold Agglutinin Disease |
|
Pallor, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Coronary artery atherosclerosis, Aortic root aneurysm, Ventricular hype... |
ORPHA:363618 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Tessier cleft, High, narrow palate, Optic nerve hypoplasia, Brachyturricephaly, Cleft upper lip, ... |
OMIM:607597 |
| Genitopalatocardiac Syndrome |
|
Non-midline cleft of the upper lip, Microcephaly, Micrognathia, Cleft palate, Downturned corners ... |
ORPHA:2075 |
| Stormorken Syndrome |
|
Abnormal bleeding, Short stature, Stroke-like episode, Epistaxis, Subarachnoid hemorrhage, Bruisi... |
OMIM:185070 |
| Turnpenny-Fry Syndrome |
|
Hypoplasia of the primary teeth, Dental crowding, Relative macrocephaly, Microdontia, Microcephal... |
OMIM:618371 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Aplasia of the distal phalanx of the 5th toe, Everted lower lip vermilion, Microcephaly, Long phi... |
OMIM:608670 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Polydactyly, Syndactyly |
OMIM:602501 |
| Timothy Syndrome |
|
Patent foramen ovale, Microdontia, Tetralogy of Fallot, Patent ductus arteriosus, Cardiomegaly, V... |
OMIM:601005 |
| Bardet-Biedl Syndrome 19 |
|
Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals, Postaxial foot polydactyly |
OMIM:615996 |
| Mosaic Trisomy 1 |
|
Rocker bottom foot, Deviation of the 5th toe, Polyhydramnios, Broad 2nd toe, Single transverse pa... |
ORPHA:1692 |
| Menkes Disease |
|
Abnormal carotid artery morphology, Spontaneous hematomas, Gastrointestinal hemorrhage, Vascular ... |
ORPHA:565 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Hypoplasia of the corpus callosum, Narrow palate, Brachycephaly, Macrocephaly, Short philtrum, Ce... |
ORPHA:364028 |
| Lateral Meningocele Syndrome |
|
Long philtrum, Aortic aneurysm, Dental crowding, High palate, Micrognathia, Cleft palate, Dolicho... |
OMIM:130720 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Narrow palate, Abnormal palate morphology, Plagiocephaly, Anal atresia, Tooth agenesis, Multiple ... |
ORPHA:2063 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Melanocytic nevus, Alopecia |
OMIM:612079 |
| Cdags Syndrome |
|
Rectourethral fistula, Brachycephaly, Lambdoidal craniosynostosis, Rectovaginal fistula, Short cl... |
OMIM:603116 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na... |
OMIM:600376 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Cerebral hemorrhage, Cerebral ischemia |
OMIM:263300 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplasia of the radius, Hypoplastic ilia, Micromelia, Postaxial polydactyly, Pulmonary hypoplas... |
OMIM:617895 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Plagiocephaly, Short metatarsal, Talon cusp, Short metacarpal, Microdontia, Cleft palate, Diastem... |
OMIM:605282 |
| Mirage Syndrome |
|
Hydrocephalus, Petechiae, Short stature, Intracranial hemorrhage, Patent ductus arteriosus, Intra... |
OMIM:617053 |
| Alagille Syndrome |
|
Hypoplasia of the ulna, Brachycephaly, Short philtrum, Frontal bossing, Micrognathia, Short dista... |
ORPHA:52 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormality of dental color, Cranial asymmetry, Hemimegalencephaly, Abnormal dental morphology, C... |
OMIM:163200 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Rhizomelia, Optic nerve hypoplasia, High palate, Microcephaly, Micrognathia, Short humerus, Tetra... |
OMIM:222765 |
| Pseudo-Torch Syndrome 2 |
|
Bradycardia, Petechiae, Secundum atrial septal defect, Cerebral hemorrhage, Patent ductus arteriosus |
OMIM:617397 |
| Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Dextrocardia, 11 pairs of ribs, Polymicrogyria, Anal atresia, Median cleft pal... |
OMIM:264480 |
| Desmosterolosis |
|
Retrognathia, Abnormal cortical gyration, Macrocephaly, Patent ductus arteriosus, Polymicrogyria,... |
ORPHA:35107 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Intramuscular hematoma, Menorrhagia, Joint hemorrhage, Epistaxis, Ec... |
ORPHA:324636 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Short long bone, Bowing of the long bones, Micromelia, Neonatal death, P... |
OMIM:224410 |
| Methionine Malabsorption Syndrome |
|
Blue irides, White hair |
OMIM:250900 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Pallor, Hepatosplenomegaly |
OMIM:611590 |
| Craniofacioskeletal Syndrome |
|
Short philtrum, Interrupted aortic arch, Hypoplastic frontal sinuses, Microcephaly, Short palm, M... |
OMIM:300712 |
| Acrocallosal Syndrome |
|
Everted upper lip vermilion, Pulmonary valve defects, Prominent occiput, Abnormal oral frenulum m... |
OMIM:200990 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Polyhydramnios, Abnormal hip bone morphology, Slender long bone, Pulmonary hypoplasia, Abnormalit... |
ORPHA:1486 |
| Meacham Syndrome |
|
Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmonary venous conne... |
OMIM:608978 |
| Triploidy |
|
Macrocephaly, Non-midline cleft of the upper lip, Narrow mouth, Intestinal malrotation, Micrognat... |
ORPHA:3376 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Nail dystrophy, Coarse hair, Brittle hair |
ORPHA:75389 |
| Dysostosis, Stanescu Type |
|
Brachycephaly, Abnormal palate morphology, Cerebral calcification, Abnormal dental enamel morphol... |
ORPHA:1798 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Short finger, Plagiocephaly, Irregular dentition, Micrognathia, Abnormal heart morphology, Cleft ... |
OMIM:615656 |
| Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis, Splenomegaly |
ORPHA:664 |
| Smith-Magenis Syndrome |
|
Brachycephaly, Short philtrum, Corticospinal tract hypoplasia, Mandibular prognathia, Microcephal... |
ORPHA:819 |
| Dominant Beta-Thalassemia |
|
Delayed puberty, Cirrhosis, Jaundice, Skin ulcer, Genu valgum, Hepatocellular carcinoma, Hepatic ... |
ORPHA:231226 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Hypoplasia of the corpus callosum, Brachycephaly, Dandy-Walker malformation, High palate, Narrow ... |
OMIM:156610 |
| Congenital Heart Block |
|
Intrauterine growth retardation, Pallor |
ORPHA:60041 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Oligohydramnios, Hypertension, Pulmonary hypoplasia |
OMIM:616733 |
| Malan Overgrowth Syndrome |
|
Hypoplasia of the corpus callosum, Plagiocephaly, Macrocephaly, Narrow mouth, High palate, Fronta... |
ORPHA:420179 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Hypoplasia of the corpus callosum, Brachycephaly, Abnormal cortical gyration, Dandy-Walker malfor... |
OMIM:300968 |
| 7Q31 Microdeletion Syndrome |
|
Plagiocephaly, Macrocephaly, Hypoplasia of the maxilla, Wide mouth, Hypoplasia of the olfactory b... |
ORPHA:251061 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Palmoplantar keratoderma, Fragile nails, Sparse hair, Alopecia |
OMIM:242150 |
| Congenital Alveolar Capillary Dysplasia |
|
Pulmonary valve atresia, Atrioventricular canal defect, Aganglionic megacolon, Tracheoesophageal ... |
ORPHA:210122 |
| Acrofrontofacionasal Dysostosis |
|
Brachycephaly, Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion, Micr... |
ORPHA:1784 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Bruising susceptibility, Intracranial hemorrhage |
ORPHA:3226 |
| Familial Hyperaldosteronism Type I |
|
Hypertension, Epistaxis, Intracranial hemorrhage |
ORPHA:403 |
| Giant Cell Arteritis |
|
Glossitis, Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect ... |
ORPHA:397 |
| Tetrasomy 5P |
|
Congestive heart failure, Clinodactyly of the 5th finger, Short hallux, Hydrocephalus, Pulmonary ... |
ORPHA:3309 |
| Alkuraya-Kucinskas Syndrome |
|
Plagiocephaly, Macrocephaly, Dandy-Walker malformation, High palate, Pericardial effusion, Microg... |
OMIM:617822 |
| Johnson Neuroectodermal Syndrome |
|
Everted lower lip vermilion, Microcephaly, Carious teeth, Cleft palate, Tetralogy of Fallot |
ORPHA:2316 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Situs inversus totalis, Dextrocardia, Spina bifida occulta, Aplasia of posterior communicating ar... |
OMIM:613686 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Coronary artery atherosclerosis, Renal artery atherosclerosis, Cardiomyopathy, Coronary artery st... |
ORPHA:565612 |
| Tangier Disease |
|
Carotid artery stenosis, Coronary artery stenosis, Accelerated atherosclerosis, Left ventricular ... |
ORPHA:31150 |
| Short-Rib Thoracic Dysplasia 12 |
|
Short finger, Polyhydramnios, Atelectasis, Anencephaly, Edema, Hydrocephalus, Short long bone, As... |
OMIM:269860 |
| Familial Hyperaldosteronism Type Ii |
|
Hypertension, Epistaxis, Intracranial hemorrhage |
ORPHA:404 |
| Martsolf Syndrome 1 |
|
Periventricular white matter hyperintensities, Brachycephaly, Short philtrum, Tooth malposition, ... |
OMIM:212720 |
| Adams-Oliver Syndrome 1 |
|
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Polymicrogyria, Cortical dysplas... |
OMIM:100300 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hypoplasia of the corpus callosum, Plagiocephaly, Short philtrum, Microcephaly, Frontal bossing, ... |
ORPHA:371364 |
| Meacham Syndrome |
|
Situs inversus totalis, Transposition of the great arteries, Ventricular septal defect, Anomalous... |
ORPHA:3097 |
| Greenberg Dysplasia |
|
Short long bone, Short metacarpal, Mesomelia, Nonimmune hydrops fetalis, Tetraphocomelia, Short f... |
OMIM:215140 |
| Chromosome 2Q37 Deletion Syndrome |
|
Brachycephaly, Short metacarpal, Short fourth metatarsal, Short toe, Malar flattening, Subvalvula... |
OMIM:600430 |
| Opitz Gbbb Syndrome |
|
Rectourethral fistula, Solitary median maxillary central incisor, Cerebellar vermis hypoplasia, H... |
OMIM:300000 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Secondary microcephaly, Retrognathia, Brachycephaly, Widely spaced teeth, Cerebellar vermis hypop... |
OMIM:156200 |
| Hereditary Hemorrhagic Telangiectasia |
|
Tongue telangiectasia, Spontaneous hematomas, Gastrointestinal hemorrhage, Arteriovenous malforma... |
ORPHA:774 |
| De Barsy Syndrome |
|
Brachycephaly, Hypoplastic aortic arch, Delayed eruption of teeth, Cerebellar vermis hypoplasia, ... |
ORPHA:2962 |
| Achondrogenesis, Type Ia |
|
Hypoplasia of the radius, Stillbirth, Hydrops fetalis, Polyhydramnios, Talipes equinovarus, Sever... |
OMIM:200600 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Distal Deletion 10Q |
|
Brachycephaly, Inferior cerebellar vermis hypoplasia, Short metatarsal, Craniosynostosis, Cavum s... |
ORPHA:96148 |
| Oculocutaneous Albinism Type 2 |
|
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... |
ORPHA:79432 |
| Congenital Sialidosis Type 2 |
|
Polydactyly, Hydrocephalus, Ascites, Respiratory tract infection, Umbilical hernia, Edema, Abnorm... |
ORPHA:93400 |
| Hamamy Syndrome |
|
Brachycephaly, Dental malocclusion, Short 2nd finger, Hypodontia, High palate, Everted lower lip ... |
OMIM:611174 |
| Prolidase Deficiency |
|
Skin ulcer, Hyperkeratosis, Hirsutism, Dry skin, White forelock, Abnormal fingernail morphology, ... |
ORPHA:742 |
| Alzahrani-Kuwahara Syndrome |
|
Long philtrum, Cavum septum pellucidum, Hypodontia, Narrow philtrum, Patent foramen ovale, Corona... |
OMIM:619268 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia |
OMIM:215100 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Macrocephaly, Dental malocclusion, Triangular mouth, Patent foramen ovale, Gingival overgrowth, P... |
OMIM:616894 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Abnormality of skeletal muscle fiber size, Nemaline bodies, Joint contracture, Skeletal muscle at... |
OMIM:620278 |
| Oculocutaneous Albinism Type 1 |
|
Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash... |
ORPHA:352731 |
| Bardet-Biedl Syndrome 17 |
|
Polydactyly, Mesoaxial polydactyly, Postaxial hand polydactyly, Short fourth metatarsal, Brachyda... |
OMIM:615994 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Polydactyly, Upper limb asymmetry, Clinodactyly of the 5th finger |
ORPHA:231140 |
| Hypophosphatasia, Infantile |
|
Stillbirth, Disproportionate short-limb short stature, Intracranial hemorrhage |
OMIM:241500 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... |
ORPHA:99125 |
| You-Hoover-Fong Syndrome |
|
Double aortic arch, Microcephaly, Coarctation of aorta, Vascular ring, Cleft palate, Accessory or... |
OMIM:616954 |
| Thoracoabdominal Syndrome |
|
Ectopia cordis, Transposition of the great arteries, Anencephaly, Cleft upper lip, Cleft palate, ... |
OMIM:313850 |
| Oculocerebrocutaneous Syndrome |
|
Alopecia |
OMIM:164180 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Brachycephaly, Frontal bossing |
OMIM:264470 |
| Senior-Loken Syndrome 8 |
|
Polydactyly, Intrahepatic bile duct dilatation, Hepatic cysts, Pallor, Pancreatic cysts |
OMIM:616307 |
| Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
| Phace Association |
|
Vascular dilatation, Aortic aneurysm, Optic nerve hypoplasia, Dandy-Walker malformation, Coarctat... |
OMIM:606519 |
| Cerebrooculonasal Syndrome |
|
Tessier cleft, Brachycephaly, Widely spaced teeth, Solitary median maxillary central incisor, Hig... |
ORPHA:66625 |
| Coffin-Siris Syndrome 4 |
|
Short phalanx of the 5th toe, Everted upper lip vermilion, Thick lower lip vermilion, Patent duct... |
OMIM:614609 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Vitreous hemorrhage, Retinal arterial tortuosity, Limb hypertonia, Hydranencephaly, Hydrocephalus... |
OMIM:620371 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Optic nerve hypoplasia, Type II lissencephaly, Primary microcephaly, Cerebellar vermis hypoplasia... |
ORPHA:300570 |
| Retinitis Pigmentosa 51 |
|
Polydactyly, Pallor |
OMIM:613464 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Preaxial polydactyly, H... |
OMIM:147750 |
| Pde4D Haploinsufficiency Syndrome |
|
Brachycephaly, Short metatarsal, Short philtrum, Upper limb undergrowth, Abnormal dental enamel m... |
ORPHA:439822 |
| Sirenomelia |
|
Sirenomelia, Spina bifida |
ORPHA:3169 |
| Classic Phenylketonuria |
|
Hypopigmentation of the skin, Lack of skin elasticity, Hypopigmentation of hair |
ORPHA:79254 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Brachycephaly, Fibular hypoplasia, Short ribs, Anal atresia, Decreased calvarial ossification, Fr... |
OMIM:617925 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Abnormal metacarpal morphology, Finger syndactyly, Aplasia/Hypoplasia of the phalanges of the toe... |
ORPHA:1112 |
| Raine Syndrome |
|
Brachycephaly, Plagiocephaly, Cerebral calcification, Mandibular prognathia, Gingival overgrowth,... |
OMIM:259775 |
| Myopathic Ehlers-Danlos Syndrome |
|
Congenital finger flexion contractures, Adducted thumb, Pallor, Tapered finger, Talipes equinovarus |
ORPHA:536516 |
| Opitz-Kaveggia Syndrome |
|
Narrow palate, Plagiocephaly, Postnatal macrocephaly, Thick lower lip vermilion, Anal stenosis, D... |
OMIM:305450 |
| Weill-Marchesani Syndrome 2 |
|
Narrow palate, Short finger, Brachycephaly, Short metatarsal, Tooth malposition, High palate, Bro... |
OMIM:608328 |
| Cerebrooculonasal Syndrome |
|
Hypoplasia of the corpus callosum, Narrow palate, Brachycephaly, Macrocephaly, Solitary median ma... |
OMIM:605627 |
| Myelofibrosis |
|
Splenomegaly, Purpura, Hepatomegaly, Pallor |
OMIM:254450 |
| Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... |
ORPHA:79434 |
| Renal Hypodysplasia/Aplasia 1 |
|
Oligohydramnios, Hypertension, Pulmonary hypoplasia, Talipes equinovarus |
OMIM:191830 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Long philtrum, Macrocephaly, Calvarial osteosclerosis, Triangular mouth, Cleft soft palate, Denta... |
OMIM:616331 |
| Alg3-Cdg |
|
Neural tube defect, Cardiomyopathy, Pulmonary hypoplasia, Metaphyseal chondrodysplasia, Abnormal ... |
ORPHA:79321 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Brachycephaly, Microcephaly, Downturned corners of mouth, Cleft palate, Microretrognathia, Long p... |
OMIM:301041 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Polydactyly, Small placenta, Clinodactyly of the 5th finger, Ectrodactyly, Syndactyly, Short 5th ... |
ORPHA:397590 |
| Renpenning Syndrome |
|
Abnormal hairshaft morphology, Thin eyebrow, Alopecia |
ORPHA:3242 |
| Angelman Syndrome |
|
Secondary microcephaly, Brachycephaly, Widely spaced teeth, Mandibular prognathia, Protruding ton... |
OMIM:105830 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Brachycephaly, Conical tooth, Abnormality of the dentition, Coronal craniosynostosis, Frontal bos... |
ORPHA:228390 |
| Warburg Micro Syndrome 3 |
|
Secondary microcephaly, Hypoplasia of the corpus callosum, Narrow palate, Brachycephaly, Polymicr... |
OMIM:614222 |
| Momo Syndrome |
|
Brachycephaly, Macrocephaly, Thick lower lip vermilion, Delayed eruption of teeth, High palate, S... |
ORPHA:2563 |
| Renpenning Syndrome 1 |
|
Cerebral atrophy, Situs inversus totalis, Brachycephaly, Short philtrum, Mandibular prognathia, H... |
OMIM:309500 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Preaxial polydactyly, Hydrops fetalis, Polyhydramnios, Anencephaly, Hydrocephalus, Micromelia, Po... |
OMIM:616546 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia |
ORPHA:88630 |
| Irida Syndrome |
|
Pallor, Intrahepatic cholestasis |
ORPHA:209981 |
| Opitz Gbbb Syndrome |
|
Tracheoesophageal fistula, Microcephaly, Abnormal heart morphology, Long philtrum, Craniosynostos... |
ORPHA:2745 |
| Trisomy 9P |
|
Brachycephaly, Dental crowding, Non-midline cleft of the upper lip, Microcephaly, Downturned corn... |
ORPHA:236 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Increased head circumference, Brachycephaly, Plagiocephaly, Aganglionic megacolon, Short philtrum... |
ORPHA:247262 |
| Nk-Cell Enteropathy |
|
Duodenal ulcer, Gastroesophageal reflux, Abnormal gastric mucosa morphology, Colonic diverticula,... |
ORPHA:263665 |
| Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
| Acrocardiofacial Syndrome |
|
Truncus arteriosus, Anal atresia, Cerebral cortical atrophy, Cleft upper lip, Coarctation of aort... |
ORPHA:2008 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Brachycephaly, Plagiocephaly, Thin corpus callosum, Macrocephaly, Dilation of Virchow-Robin space... |
OMIM:619512 |
| Crouzon Syndrome |
|
Brachycephaly, Lambdoidal craniosynostosis, Dental crowding, Mandibular prognathia, High palate, ... |
OMIM:123500 |
| Chromosome 5P13 Duplication Syndrome |
|
Brachycephaly, Macrocephaly, Turricephaly, Short philtrum, High palate, Frontal bossing, Downturn... |
OMIM:613174 |
| Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Brachycephaly, Macrocephaly, High palate, Narrow mouth, Microcephaly, Micrognathia, Smooth philtr... |
ORPHA:562528 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Anal atresia, Microcephaly, Aplasia of t... |
ORPHA:1352 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Secondary microcephaly, Amelogenesis imperfecta, Global brain atrophy, Widely spaced teeth, Brach... |
OMIM:619229 |
| Orofaciodigital Syndrome Iv |
|
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Brachydactyly, Toe synda... |
OMIM:258860 |
| Orofaciodigital Syndrome I |
|
Microcephaly, Abnormal heart morphology, Tongue nodules, Alveolar ridge overgrowth, Abnormal cort... |
OMIM:311200 |
| Isolated Klippel-Feil Syndrome |
|
Spina bifida |
ORPHA:2345 |
| Joubert Syndrome 7 |
|
Postaxial polydactyly, Genu valgum, Postaxial hand polydactyly, Encephalocele |
OMIM:611560 |
| Thakker-Donnai Syndrome |
|
Transposition of the great arteries, Rectovaginal fistula, Narrow mouth, Tracheoesophageal fistul... |
ORPHA:1780 |
| Blepharocheilodontic Syndrome 1 |
|
Cutaneous syndactyly, Neural tube defect, Clinodactyly |
OMIM:119580 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Plagiocephaly, Dental crowding, High palate, Protruding tongue, Microcephaly, Wide mouth, Thick v... |
OMIM:618106 |
| Neurocardiofaciodigital Syndrome |
|
Hypoplasia of the corpus callosum, Retrognathia, Thin vermilion border, Double inlet left ventric... |
OMIM:619869 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Pallor, Hepatomegaly, Splenomegaly |
ORPHA:75564 |
| Cerebrocostomandibular Syndrome |
|
Glossoptosis, Microcephaly, Short humerus, Long philtrum, 10 pairs of ribs, Carious teeth, Cleft ... |
OMIM:117650 |
| Mosaic Trisomy 16 |
|
Atrial septal defect, Meckel diverticulum, Coarctation of aorta, Abnormal heart morphology, Wide ... |
ORPHA:1708 |
| Beta-Thalassemia Major |
|
Delayed puberty, Cirrhosis, Jaundice, Skin ulcer, Hepatomegaly, Genu valgum, Hepatocellular carci... |
ORPHA:231214 |
| Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Intestinal malrotation, Mitral stenosis, Abnormal heart morphology, Tetralog... |
ORPHA:2847 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia |
OMIM:617443 |
| Mucoepithelial Dysplasia, Hereditary |
|
Nail dysplasia, Nail dystrophy, Chronic monilial nail infection, Alopecia, Sparse hair, Coarse ha... |
OMIM:158310 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Congenital diaphragmatic hernia, Spina bifida occulta, Meningocele, Short stature, Camptodactyly ... |
ORPHA:2311 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Retrognathia, High, narrow palate, Brachycep... |
OMIM:612513 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:411515 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen... |
ORPHA:263455 |
| Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Brachycephaly, Bicuspid aortic valve, Long philtrum, Rhizomelia, 11 pairs of ribs, Craniosynostos... |
OMIM:245600 |
| Isovaleric Acidemia |
|
Cerebellar hemorrhage |
OMIM:243500 |
| Tarp Syndrome |
|
Neonatal death, Tetralogy of Fallot, Intrauterine growth retardation, Atrial septal defect, Subdu... |
OMIM:311900 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Broad thumb, Preaxial hand polydactyly, Broad hallux phalanx, E... |
ORPHA:2211 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Polydactyly, Short long bone, Brachydactyly |
OMIM:613819 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Hypertension, Cerebral hemorrhage |
OMIM:618886 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Fibular aplasia, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the patella, Micrognathia,... |
ORPHA:3320 |
| Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Spina bifida |
OMIM:620439 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Brachycephaly, Thin vermilion border, Hypoplasia of the primary teeth, Delayed eruption of teeth,... |
OMIM:257850 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Brachycephaly, Plagiocephaly, Macrocephaly, Frontal bossing, Downturned corners of mouth, Tented ... |
OMIM:618430 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Red hair |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Red hair |
ORPHA:71526 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Hypoplasia of the corpus callosum, Plagiocephaly |
ORPHA:521390 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Dry skin, Alopecia |
OMIM:618282 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Brachycephaly, Oligodontia, Abnormality of the dentition, Hypoplasia of the maxilla, Coronal cran... |
ORPHA:2095 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Periventricular leukomalacia, Plagiocephaly, Thin corpus callosum, Exaggerated cupid's bow, High ... |
OMIM:619833 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Amelia, Tracheoesophageal fistula, Intestinal malrotation, Aplastic clavicle, Abnormal cortical g... |
ORPHA:2538 |
| Coronary Arterial Fistula |
|
Atrial septal defect, Vascular dilatation, Cardiomegaly, Bacterial endocarditis, Patent foramen o... |
ORPHA:2041 |
| Aspergillosis |
|
Stroke, Intracranial hemorrhage |
ORPHA:1163 |
| Desanto-Shinawi Syndrome |
|
Hypoplasia of the corpus callosum, Downturned corners of mouth, Brachycephaly, Thin upper lip ver... |
OMIM:616708 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Dextrocardia, Aortic aneurysm, Subdural hemorrhage, Short stature, Skeletal muscle atrophy, Cereb... |
ORPHA:536545 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Arteriovenous malformation, Aortic aneurysm, Angina pectoris, Short stature, Skeletal muscle atro... |
ORPHA:109 |
| Treacher-Collins Syndrome |
|
Retrognathia, Glossoptosis, Tracheoesophageal fistula, Tooth agenesis, Wide mouth, Abnormality of... |
ORPHA:861 |
| Glycogen Storage Disease Ii |
|
Increased muscle glycogen content, Wolff-Parkinson-White syndrome, Right axis deviation, Firm mus... |
OMIM:232300 |
| Hallermann-Streiff Syndrome |
|
Narrow palate, Supernumerary tooth, Thin vermilion border, High, narrow palate, Brachycephaly, Se... |
OMIM:234100 |
| Orofaciodigital Syndrome Xiv |
|
Short ribs, Microcephaly, Trigonocephaly, Aplasia of the epiglottis, Cerebellar vermis hypoplasia... |
OMIM:615948 |
| Joubert Syndrome 20 |
|
Postaxial polydactyly, 4-5 toe syndactyly |
OMIM:614970 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Plagiocephaly, Short philtrum, High palate, Everted lower lip vermilion, Microcephaly, Tented upp... |
OMIM:616579 |
| Fanconi Anemia, Complementation Group I |
|
Hypoplasia of the radius, Short stature, Absent thumb, Short thumb, Intrauterine growth retardati... |
OMIM:609053 |
| Cerebral Visual Impairment |
|
Hydrocephalus, Ischemic stroke, Intracranial hemorrhage |
ORPHA:447788 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Pallor, Hepatitis |
OMIM:194380 |
| Idiopathic Pulmonary Hemosiderosis |
|
Pallor, Hepatomegaly, Hepatosplenomegaly |
ORPHA:99931 |
| Stuve-Wiedemann Syndrome 1 |
|
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Adducted th... |
OMIM:601559 |
| Hereditary Spherocytosis |
|
Jaundice, Skin ulcer, Hepatomegaly, Cholelithiasis, Growth delay, Splenomegaly, Pallor |
ORPHA:822 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Facial edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites... |
OMIM:265300 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Widely spaced teeth, Microdontia, Microcephaly, Hypoplasia of teeth, Cleft palate, Atrial septal ... |
ORPHA:2728 |
| Fliedner-Zweier Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Hypoplastic aortic arch, Meningocele |
OMIM:620511 |
| Atelosteogenesis Type I |
|
Abnormal fibula morphology, Polyhydramnios, Rhizomelia, Short long bone, Pulmonary hypoplasia, Li... |
ORPHA:1190 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Brachycephaly, Lambdoidal craniosynostosis, Coronal craniosynostosis, Frontal bossing, Malar flat... |
OMIM:207410 |
| Otopalatodigital Syndrome Type 2 |
|
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Encepha... |
ORPHA:90652 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Polyhydramnios, Epiphyseal stippling, Short metacarpal, Pulmonary hypoplasia, Short distal phalan... |
ORPHA:86822 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Brachycephaly, Short philtrum, Mandibular prognathia, Vertebrobasilar dolichoectasia, Microcephal... |
ORPHA:521445 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Brachycephaly, Disproportionate shortening of the tibia, Cerebellar vermis hypoplasia, Short ribs... |
OMIM:263520 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Polyhydramnios, Recurrent respiratory infections, Hydrops fetalis, Pulmonary hypoplasia |
OMIM:255320 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Anomalous pulmonary venous return, Tetralogy of Fallot, Patent ductus arteriosus |
ORPHA:2184 |
| Craniodigital-Intellectual Disability Syndrome |
|
Brachycephaly, Micrognathia |
ORPHA:1514 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Trichorrhexis nodosa, Small nail, Sparse lateral eyebrow, Fragile nails, Pili torti, Alopecia |
OMIM:261990 |
| Fibromuscular Dysplasia, Multifocal |
|
Pulmonary artery aneurysm, Dilatation of celiac artery, Dental crowding, Tortuous cerebral arteri... |
OMIM:619329 |
| 7Q11.23 Microduplication Syndrome |
|
Brachycephaly, Retrognathia, Thin vermilion border, Macrocephaly, Dental malocclusion, Aortic ane... |
ORPHA:96121 |
| Dravet Syndrome |
|
Pallor, Tibial torsion |
ORPHA:33069 |
| Cerebrocostomandibular Syndrome |
|
Hydranencephaly, Short hard palate, Cerebral calcification, Glossoptosis, Porencephalic cyst, Mic... |
ORPHA:1393 |
| Holoprosencephaly 7 |
|
Macrocephaly, Solitary median maxillary central incisor, Bilateral cleft palate, Cranial asymmetr... |
OMIM:610828 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Hypoplastic ischia |
OMIM:616910 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ... |
OMIM:171420 |
| Frontonasal Dysplasia 3 |
|
Tessier cleft, Cleft palate, Brachycephaly |
OMIM:613456 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Ecchymosis, Melanocytic nevus, Albinism, ... |
OMIM:203300 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Plagiocephaly, Progressive microcephaly, Optic nerve hypoplasia, High palate, Microcephaly, Hypop... |
OMIM:300749 |
| Incontinentia Pigmenti |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Skin ulcer, Hypoplastic fingernail, Abno... |
ORPHA:464 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Giant hypertrophic gastriti... |
ORPHA:2494 |
| Pagod Syndrome |
|
Congenital diaphragmatic hernia, Situs inversus totalis, Encephalocele, Meningocele, Abnormal aor... |
ORPHA:991 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Lipoatrophy, Shagreen patch, Congenital pyloric atresia |
ORPHA:2617 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Pulmonary insufficiency, Fibular hypoplasia, Irregular epiphyses, Early o... |
OMIM:208500 |
| Antley-Bixler Syndrome |
|
Brachycephaly, Turricephaly, Narrow mouth, Frontal bossing, Cleft palate, Long philtrum, Craniosy... |
ORPHA:83 |
| White-Sutton Syndrome |
|
Hypoplasia of the corpus callosum, Brachycephaly, Short philtrum, Subcortical cerebral atrophy, H... |
ORPHA:468678 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Preaxial polydactyly, Ulnar bowing, Hydrocephalus, Single transverse palmar crease, 2-3 toe synda... |
OMIM:617866 |
| Achondrogenesis, Type Ii |
|
Brachycephaly, Short ribs, Frontal bossing, Cleft palate, Microretrognathia, Long philtrum |
OMIM:200610 |
| Robinow Syndrome |
|
Mesomelic arm shortening, Broad alveolar ridges, Dental crowding, Pulmonic stenosis, Abnormal hea... |
ORPHA:97360 |
| Houge-Janssens Syndrome 2 |
|
Hypoplasia of the corpus callosum, Plagiocephaly, Microcephaly, Tented upper lip vermilion, Open ... |
OMIM:616362 |
| Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
| Omenn Syndrome |
|
Alopecia, Dry skin, Aplasia/Hypoplasia of the eyebrow |
ORPHA:39041 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Plagiocephaly, Thin corpus callosum, Atrioventricular canal defect, Exaggerated cupid's bow, Narr... |
OMIM:619480 |
| Autosomal Recessive Robinow Syndrome |
|
Mesomelia, Wide mouth, Long philtrum, Short distal phalanx of finger, Abnormal tricuspid valve mo... |
ORPHA:1507 |
| Pallister-Hall Syndrome |
|
Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Syndactyly, Hip dislo... |
OMIM:146510 |
| Acro-Renal-Mandibular Syndrome |
|
Abnormal lung lobation, Hypoplasia of the radius, Hypoplasia of the ulna, Finger syndactyly, Spli... |
ORPHA:958 |
| Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Narrow mouth, High palate, Brachyturricephaly, Micrognathia, Dentinoge... |
OMIM:613849 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intrauterine growth retardation, Intraventricular hemorrhage, Abnormal heart morphology, Growth d... |
ORPHA:79284 |
| Lymphedema-Distichiasis Syndrome |
|
Cleft upper lip, Micrognathia, Cleft palate, Tetralogy of Fallot, Patent ductus arteriosus, Varic... |
OMIM:153400 |
| Lymphatic Malformation 7 |
|
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... |
OMIM:617300 |
| Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Small nail |
OMIM:614219 |
| Phace Syndrome |
|
Abnormal carotid artery morphology, Aortic root aneurysm, Coarctation of aorta, Abnormal heart mo... |
ORPHA:42775 |
| Autism, Susceptibility To, X-Linked 2 |
|
Plagiocephaly |
OMIM:300495 |
| Ermine Phenotype |
|
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme... |
ORPHA:999 |
| American Trypanosomiasis |
|
Pallor, Hepatomegaly, Splenomegaly |
ORPHA:3386 |
| Diamond-Blackfan Anemia 7 |
|
Esophagitis, Secundum atrial septal defect, Tetralogy of Fallot, Short thumb, Cleft palate, Paten... |
OMIM:612562 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Retrognathia, High, narrow palate, Dextrocardia, Dandy-Walker malformation, Everted lower lip ver... |
ORPHA:96092 |
| Cranioectodermal Dysplasia 2 |
|
Retrognathia, Short ribs, Everted lower lip vermilion, Microdontia, Mesomelia, Broad philtrum, Le... |
OMIM:613610 |
| Teebi-Shaltout Syndrome |
|
High, narrow palate, Turricephaly, Oligodontia, Narrow mouth, Aortic valve stenosis, Microcephaly... |
OMIM:272950 |
| X-Linked Agammaglobulinemia |
|
Hypopigmented skin patches, Skin ulcer, Alopecia |
ORPHA:47 |
| Apert Syndrome |
|
Narrow palate, Esophageal atresia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Cl... |
ORPHA:87 |
| Orofaciodigital Syndrome Vi |
|
Fibular aplasia, 11 pairs of ribs, Accessory oral frenulum, Cerebellar vermis hypoplasia, Polymic... |
OMIM:277170 |
| Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
| Trichohepatoneurodevelopmental Syndrome |
|
Cerebral atrophy, Brachycephaly, Steatorrhea, Thin corpus callosum, Widely spaced teeth, Plagioce... |
OMIM:618268 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Posterior plagiocephaly, Thick vermilion border |
OMIM:619927 |
| Multiple Pterygium Syndrome, X-Linked |
|
Edema, Short finger, Polyhydramnios, Pulmonary hypoplasia |
OMIM:312150 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microcephaly, Plagiocephaly, Global brain atrophy |
OMIM:308350 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Meckel diverticulum, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the humerus, A... |
OMIM:274000 |
| Lethal Acantholytic Erosive Disorder |
|
Absent hair, Absent eyelashes, Absent fingernail, Absent eyebrow, Absent toenail, Acantholysis, C... |
ORPHA:158687 |
| Smooth Muscle Dysfunction Syndrome |
|
Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce... |
OMIM:613834 |
| Bresek Syndrome |
|
Plagiocephaly, Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Cleft palate |
ORPHA:85284 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele |
OMIM:600145 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Hyperkeratosis, Abnormal toenail morphology, Sparse hair, Alopecia |
ORPHA:1005 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Brachycephaly, Short philtrum, Rectovaginal fistula, Short lingual frenulum, Ebstein anomaly of t... |
OMIM:608980 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Polyhydramnios, Pulmonary hypoplasia |
OMIM:616867 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Brachycephaly, Plagiocephaly, Microcephaly, Hypoplastic vertebral bodies, Short distal phalanx of... |
ORPHA:2163 |
| Down Syndrome |
|
Narrow palate, Brachycephaly, Atrioventricular canal defect, Aganglionic megacolon, Thick lower l... |
ORPHA:870 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Brachycephaly, High palate, Hypoplasia of the maxilla, Diffuse white matter abnormalities, Agenes... |
OMIM:218000 |
| Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head, Chronic bronchitis |
OMIM:616629 |
| Tempi Syndrome |
|
Intracranial hemorrhage, Telangiectasia |
ORPHA:284227 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit |
OMIM:119300 |
| Aica-Ribosiduria |
|
Brachycephaly, Wide mouth, Thin upper lip vermilion |
ORPHA:250977 |
| Pelger-Huet Anomaly |
|
Polydactyly, Short 4th metacarpal, Upper limb undergrowth, Short 3rd metacarpal, Umbilical hernia... |
OMIM:169400 |
| Dyskeratosis Congenita |
|
Premature graying of hair, Hypopigmented skin patches, Hypermelanotic macule, Nail dystrophy, Ski... |
ORPHA:1775 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Dental crowding, Relative macrocephaly, Wide mouth, Left ventricular hypertrophy, Short philtrum,... |
ORPHA:466791 |
| Chanarin-Dorfman Syndrome |
|
Alopecia |
OMIM:275630 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Cardiomyopathy |
OMIM:251000 |
| Van Der Woude Syndrome 2 |
|
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit |
OMIM:606713 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Brachycephaly, Macrocephaly, Widely spaced teeth, High palate, Narrow mouth, Microcephaly, Malar ... |
OMIM:300260 |
| Specc1L-Related Hypertelorism Syndrome |
|
Brachycephaly, Orofacial cleft, Advanced eruption of teeth, Thin vermilion border, Everted lower ... |
ORPHA:1519 |
| Loeys-Dietz Syndrome 3 |
|
Arterial tortuosity, Ventricular hypertrophy, Tortuous cerebral arteries, Aortic tortuosity, Pulm... |
OMIM:613795 |
| Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand |
OMIM:245800 |
| Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Abnormal lymphatic vessel morphology, Pericardial effusio... |
ORPHA:464329 |
| Ritscher-Schinzel Syndrome 4 |
|
Narrow palate, Brachycephaly, Plagiocephaly, Short philtrum, Dandy-Walker malformation, High pala... |
OMIM:619435 |
| Cornelia De Lange Syndrome 1 |
|
Microcephaly, Malrotation of colon, Long philtrum, Hypoplasia of the radius, Micromelia, Short st... |
OMIM:122470 |
| Frontonasal Dysplasia 2 |
|
Hypoplasia of the corpus callosum, Brachycephaly, Widely spaced teeth, Conical tooth, Cerebellar ... |
OMIM:613451 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypertension, Epistaxis, Intracranial hemorrhage, Palpitations, Abnormal T-wave |
ORPHA:231625 |
| Hoyeraal-Hreidarsson Syndrome |
|
Premature graying of hair, Nail dystrophy, Excessive wrinkled skin, Sparse scalp hair, Generalize... |
ORPHA:3322 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Hypopigmented skin patches, Abnormal fingernail morphology, Alopecia |
ORPHA:3453 |
| Acrofacial Dysostosis 1, Nager Type |
|
Retrognathia, Temporomandibular joint ankylosis, Microcephaly, Absent thumb, Wide mouth, Absent r... |
OMIM:154400 |
| Renal Tubular Dysgenesis |
|
Oligohydramnios, Pulmonary hypoplasia, Hypotension |
OMIM:267430 |
| 20P13 Microdeletion Syndrome |
|
Polydactyly, Finger syndactyly, Clinodactyly, Brachydactyly |
ORPHA:313781 |
| Loeys-Dietz Syndrome 2 |
|
Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm,... |
OMIM:610168 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Brachycephaly, Optic nerve hypoplasia, Simplified gyral pattern, Smooth philtrum, Primary microce... |
OMIM:618828 |
| Microform Holoprosencephaly |
|
Orofacial cleft, Solitary median maxillary central incisor, Short philtrum, Microcephaly, Cleft p... |
ORPHA:280200 |
| Alg9-Cdg |
|
Cerebral atrophy, Atrial septal defect, Brachycephaly, Rhizomelia, Abnormal left ventricular outf... |
ORPHA:79328 |
| Endocrine-Cerebroosteodysplasia |
|
Preaxial polydactyly, Polyhydramnios, Fibular bowing, Sandal gap, Hitchhiker thumb, Hydrocephalus... |
OMIM:612651 |
| Microphthalmia, Syndromic 9 |
|
Right aortic arch with mirror image branching, Hypoplastic left atrium, Truncus arteriosus, Pulmo... |
OMIM:601186 |
| 19P13.13 Microdeletion Syndrome |
|
Brachycephaly, Macrocephaly, Optic nerve hypoplasia, High palate, Narrow mouth, Hypoplasia of the... |
ORPHA:357001 |
| Feingold Syndrome 1 |
|
Tricuspid atresia, Esophageal atresia, Prominent occiput, Interrupted aortic arch, High palate, T... |
OMIM:164280 |
| Suleiman-El-Hattab Syndrome |
|
Polydactyly, Single transverse palmar crease, Brachydactyly, Recurrent respiratory infections, Cl... |
OMIM:618950 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Nail dysplasia, Premature graying of hair, Nail dystrophy, Dry skin, Fine hair, Reticulated skin ... |
OMIM:613990 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology |
ORPHA:281090 |
| 3Mc Syndrome 1 |
|
Lambdoidal craniosynostosis, Dental crowding, Microcephaly, Cleft lip, Cleft upper lip, Cleft pal... |
OMIM:257920 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Hydrocephalus, Short stature, Heart murmur, Intracranial hemorrhage, Pat... |
ORPHA:163979 |
| Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
| Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Intestinal malrotation, Paranasal sinus hypoplasia, Bifid uvula, Craniofacial os... |
OMIM:300373 |
| Loeys-Dietz Syndrome 6 |
|
Congenital diaphragmatic hernia, Dilatation of the cerebral artery, Arterial tortuosity, Vertebra... |
OMIM:619656 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Widely spaced teeth, Conical tooth, Delayed eruption of teeth, Abnormal dental enamel morphology,... |
ORPHA:1071 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Delayed puberty, Pallor, Growth delay |
OMIM:600462 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Brachycephaly, Global brain atrophy, High, narrow palate, Upper limb undergrowth, Premature loss ... |
ORPHA:369837 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Brachycephaly, Macrocephaly, Hypoplasia of the maxilla, Malar flattening, Agenesis of corpus call... |
OMIM:109120 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Edema, Short finger, Polyhydramnios, Pulmonary hypoplasia |
OMIM:253290 |
| Cocaine Intoxication |
|
Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hypotension, H... |
ORPHA:90068 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor, Splenomegaly |
ORPHA:90037 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Hirsutism, Alopecia |
OMIM:615830 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Brachycephaly, Craniosynostosis |
OMIM:612247 |
| Severe Congenital Nemaline Myopathy |
|
Adducted thumb, Polyhydramnios, Edema of the dorsum of hands, Pulmonary hypoplasia |
ORPHA:171430 |
| Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Short stature, Fetal intraventricular hemorrhage, Limb hypertonia |
OMIM:618480 |
| Kagami-Ogata Syndrome |
|
Polyhydramnios, Pulmonary arterial hypertension, Pulmonic stenosis, Long fingers, Pulmonary hypop... |
OMIM:608149 |
| Mckusick-Kaufman Syndrome |
|
Aganglionic megacolon, Ectopic anus, High palate, Anal atresia, Cleft palate, Tetralogy of Fallot... |
ORPHA:2473 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Patent foramen ovale, Rectoperineal fistula, Coarctation of aorta, Tetralogy of Fallot, Agenesis ... |
OMIM:618748 |
| Mycophenolate Mofetil Embryopathy |
|
Tessier cleft, Orofacial cleft, Tracheoesophageal fistula, Short palm, Micrognathia, Coarctation ... |
ORPHA:268249 |
| Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment... |
OMIM:203100 |
| Lig4 Syndrome |
|
Brachycephaly, Thin vermilion border, Biparietal narrowing, Microcephaly, Micrognathia |
ORPHA:99812 |
| Orofaciodigital Syndrome Type 2 |
|
Abnormal oral frenulum morphology, Tongue nodules, Taurodontia, Talon cusp, Unilateral alveolar c... |
ORPHA:2751 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Narrow palate, Aortic aneurysm, High palate, Brachyturricephaly, Microcephaly, Hypoplasia of the ... |
OMIM:182212 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Plagiocephaly, Tricuspid valve prolapse, High, narrow palate, Mandibular prognathia, Hypoplasia o... |
ORPHA:1101 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Pyloric stenosis, Enamel hypoplasia, Atrophic scars |
OMIM:226700 |
| Ataxia-Telangiectasia |
|
Premature graying of hair, Multiple cafe-au-lait spots, Hypopigmentation of hair |
ORPHA:100 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, Stillbirth, 2-5 finger syndactyly, Epiphyseal st... |
OMIM:308050 |
| Hydranencephaly |
|
Postnatal growth retardation, Abnormal internal carotid artery morphology, Dilatation of the vent... |
ORPHA:2177 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Plagiocephaly, Abnormal dental enamel morphology, Mandibular prognathia, Hypoplastic vertebral bo... |
ORPHA:2916 |
| Baller-Gerold Syndrome |
|
Turricephaly, Carpal bone aplasia, Optic nerve hypoplasia, Brachyturricephaly, Abnormal heart mor... |
OMIM:218600 |
| Joubert Syndrome 17 |
|
Postaxial polydactyly, Preaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
| Wiskott-Aldrich Syndrome |
|
Hematemesis, Spontaneous hematomas, Purpura, Petechiae, Vasculitis, Gingival bleeding, Internal h... |
ORPHA:906 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Pyloric stenosis, Arthrogryposis multiplex congenita, Camptodactyly |
OMIM:614262 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Brachycephaly, Short philtrum, Microcephaly, Abnormal cerebral white matter morphology, Tented up... |
OMIM:618885 |
| Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis |
OMIM:179010 |
| Orofaciodigital Syndrome Type 14 |
|
Hypoplasia of the corpus callosum, Supernumerary tooth, Aplasia of the epiglottis, Hamartoma of t... |
ORPHA:434179 |
| Macs Syndrome |
|
Redundant skin, Cutis laxa, Sparse eyebrow, Sparse hair, Alopecia |
OMIM:613075 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperpigmentation of the skin, Breast aplasia, Absent eyelashes, Abnormal eyebrow morphology, Lac... |
ORPHA:90153 |
| Branchioskeletogenital Syndrome |
|
Brachycephaly, Thin vermilion border, Short philtrum, Rootless teeth, Mandibular prognathia, Abno... |
ORPHA:1299 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hypoplasia of the corpus callosum, Microdontia of primary teeth, Brachycephaly, Macrocephaly, Gin... |
OMIM:213980 |
| Iniencephaly |
|
Anencephaly, Encephalocele, Hydrocephalus, Myelomeningocele, Spina bifida, Holoprosencephaly, Spi... |
ORPHA:63259 |
| Intrinsic Factor Deficiency |
|
Absence of intrinsic factor |
OMIM:261000 |
| Hutchinson-Gilford Progeria Syndrome |
|
Alopecia |
OMIM:176670 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Abnormal aortic morphology, Cardiomyopathy, Arrhythmia |
ORPHA:3222 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated circulating hepatic transaminase concentration, Growth delay, Elevated hepatic iron conc... |
ORPHA:300298 |
| Frontofacionasal Dysplasia |
|
Hypoplasia of the corpus callosum, Tessier cleft, Brachycephaly, Non-midline cleft of the upper l... |
ORPHA:1791 |
| 1P31P32 Microdeletion Syndrome |
|
Moyamoya phenomenon, Intraventricular hemorrhage |
ORPHA:401986 |
| Yunis-Varon Syndrome |
|
Broad secondary alveolar ridge, Absent sternal ossification, Short ribs, Cardiomyopathy, Glossopt... |
ORPHA:3472 |
| Arachnoid Cyst |
|
Encephalocele, Hydrocephalus, Facial palsy, Holoprosencephaly, Subarachnoid hemorrhage, Lower lim... |
ORPHA:2356 |
| Cree Mental Retardation Syndrome |
|
Brachycephaly, Aplasia/Hypoplasia of the ribs, Micrognathia, Cleft soft palate |
OMIM:606851 |
| Diamond-Blackfan Anemia 1 |
|
Retrognathia, Hypoplasia of the radius, Hypoplastic coccygeal vertebrae, 11 pairs of ribs, Pariet... |
OMIM:105650 |
| Adult Syndrome |
|
Breast hypoplasia, Alopecia of scalp, Hypoplastic nipples, Sparse scalp hair, Absent nipple, Dry ... |
OMIM:103285 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Alopecia |
OMIM:615559 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Transposition of the great arteries, Lissencephaly, Polymicrogyria, Type II lissencephaly, Hypopl... |
OMIM:253800 |
| Waardenburg Syndrome |
|
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... |
ORPHA:3440 |
| Nephronophthisis 2 |
|
Pulmonary insufficiency, Hypertension, Pulmonary hypoplasia, Oligohydramnios |
OMIM:602088 |
| Tonne-Kalscheuer Syndrome |
|
Broad thumb, Pulmonary hypoplasia, Brachydactyly |
OMIM:300978 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrocephalus, Stroke, Pulmonary arterial hypertension, Growth delay, Abnormal heart morphology, ... |
ORPHA:79282 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, E... |
OMIM:616300 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Plagiocephaly, Everted lower lip vermilion, ... |
OMIM:615471 |
| Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling |
OMIM:160980 |
| Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome |
|
Alopecia |
OMIM:620651 |
| Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Long philtrum, Atrioventricular canal defect, Patent foramen ova... |
OMIM:605275 |
| Mckusick-Kaufman Syndrome |
|
Postaxial hand polydactyly, Congenital hip dislocation, Pulmonary hypoplasia, Syndactyly, Edema, ... |
OMIM:236700 |
| Absence Of The Pulmonary Artery |
|
Patent foramen ovale, Truncus arteriosus, Abnormal inferior vena cava morphology, Right aortic ar... |
ORPHA:980 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Tessier cleft, Abnormal palate morphology, Brachycephaly, Mandibular prognathia, Microcephaly, Fr... |
ORPHA:1236 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Nail dysplasia, Nail dystrophy, Hyperpigmentation of the skin, Alopecia |
OMIM:175500 |
| Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
| Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormal gastric mucosa morphology, Spontaneous esophageal perforation, Abnormality of the gastro... |
ORPHA:1876 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia |
OMIM:600785 |
| Short Syndrome |
|
Excessive wrinkled skin, Sparse hair, Alopecia |
ORPHA:3163 |
| Adenylosuccinase Deficiency |
|
Cerebral atrophy, Brachycephaly, Microcephaly, Wide mouth, Smooth philtrum, Long philtrum, Thin u... |
OMIM:103050 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Short long bone, Femoral bowing... |
OMIM:613091 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Pallor, Elevated circulating hepatic transaminase concentration |
ORPHA:98870 |
| Acromelic Frontonasal Dysostosis |
|
Hypoplasia of the corpus callosum, Persistent falcine venous sinus, U-Shaped upper lip vermilion,... |
OMIM:603671 |
| Fontaine Progeroid Syndrome |
|
Retrognathia, Turricephaly, Everted lower lip vermilion, Microdontia, Microcephaly, Abnormal hear... |
OMIM:612289 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Nail dystrophy, Onychogryposis, Hyperpigmentation of the skin, Hypopigmentation of the skin, Gene... |
ORPHA:79396 |
| Keutel Syndrome |
|
Alopecia |
ORPHA:85202 |
| Distal Deletion 19P |
|
Pulmonary valve atresia, Tricuspid valve prolapse, Short philtrum, Hypoplasia of the maxilla, Cle... |
ORPHA:96129 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Blue irides, Red hair, Fair hair |
OMIM:614613 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Supernumerary nipple, Alopecia |
ORPHA:3224 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Brachycephaly, Orofacial cleft, Abnormal dental enamel morphology, Oligodontia, Microcephaly, Cle... |
OMIM:601701 |
| Saethre-Chotzen Syndrome |
|
Narrow palate, Brachycephaly, Plagiocephaly, Lambdoidal craniosynostosis, Absent first metatarsal... |
OMIM:101400 |
| Pfeiffer Syndrome Type 1 |
|
Brachycephaly, Short hallux, Aplasia/Hypoplasia of the thumb, Bicoronal synostosis, High palate, ... |
ORPHA:93258 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatic steatosis, Pallor, Hepatomegaly, Elevated circulating hepatic transaminase concentration |
ORPHA:348 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor, Jaundice, Splenomegaly |
ORPHA:90033 |
| Gorlin Syndrome |
|
Brachycephaly, Orofacial cleft, Macrocephaly, Odontogenic keratocysts of the jaw, Cerebral calcif... |
ORPHA:377 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Premature graying of hair, Nail dystrophy, Ridged nail, Reticular hyperpigmentation, Nail pits, S... |
OMIM:127550 |
| Elliptocytosis 1 |
|
Pallor, Jaundice, Splenomegaly |
OMIM:611804 |
| Hepatoportal Sclerosis |
|
Gastric varix, Gastrointestinal hemorrhage, Hepatocellular carcinoma, Esophageal varix, Splenomeg... |
ORPHA:64743 |
| Homozygous Familial Hypercholesterolemia |
|
Calcification of the aorta, Hypertension, Precocious atherosclerosis, Peripheral arterial stenosi... |
ORPHA:391665 |
| Acrodysostosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Brachycephaly, Short metatarsal, Delayed erupti... |
ORPHA:950 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Secondary microcephaly, Hypoplasia of the corpus callosum, Plagiocephaly, Widely spaced teeth, Mi... |
OMIM:617193 |
| Meige Disease |
|
Atypical scarring of skin, Cellulitis, Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
| Chromosome 13Q14 Deletion Syndrome |
|
Hypoplasia of the corpus callosum, Patent foramen ovale, High palate, Everted lower lip vermilion... |
OMIM:613884 |
| Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
| Williams-Beuren Syndrome |
|
Microdontia, Pulmonic stenosis, Mitral valve prolapse, Long philtrum, Bicuspid aortic valve, Rena... |
OMIM:194050 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Plagiocephaly, Advanced eruption of teeth, Broad alveolar ridges, Exaggerated cupid's bow, Narrow... |
ORPHA:2215 |
| Distal Deletion 12Q |
|
Brachycephaly, Supernumerary tooth, High, narrow palate, Macrocephaly, Esophageal atresia, Patent... |
ORPHA:96149 |
| Craniosynostosis And Dental Anomalies |
|
Narrow palate, Supernumerary tooth, Brachycephaly, Turricephaly, Lambdoidal craniosynostosis, Del... |
OMIM:614188 |
| 20Q11.2 Microduplication Syndrome |
|
Tented philtrum, Retrognathia, Brachycephaly, Gingival overgrowth, Microcephaly, Short palm, Abno... |
ORPHA:363659 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
High, narrow palate, Macrocephaly, Hypoplastic olfactory lobes, Polymicrogyria, High palate, Brac... |
OMIM:214100 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Brachycephaly, Gingival overgrowth, Protrudi... |
OMIM:618797 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Psoriasiform lesion, Alopecia |
ORPHA:169154 |
| Ayme-Gripp Syndrome |
|
Cerebral atrophy, Long philtrum, Brachycephaly, Mandibular prognathia, Narrow mouth, Abnormality ... |
OMIM:601088 |
| Bronchogenic Cyst |
|
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia |
ORPHA:2357 |
| Warburg Micro Syndrome 4 |
|
Hypoplasia of the corpus callosum, Secondary microcephaly, Brachycephaly, Narrow mouth, Cerebral ... |
OMIM:615663 |
| Kawasaki Disease |
|
Myocarditis, Cheilitis, Glossitis, Abnormal heart valve morphology, Vasculitis, Ascending tubular... |
ORPHA:2331 |
| Mucopolysaccharidosis, Type Ivb |
|
Grayish enamel, Thin corpus callosum, Widely spaced teeth, Mandibular prognathia, Aortic valve st... |
OMIM:253010 |
| Hallermann-Streiff Syndrome |
|
Brachycephaly, Supernumerary tooth, High, narrow palate, Short ribs, Glossoptosis, Abnormality of... |
ORPHA:2108 |
| Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
| Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation, Dry skin |
OMIM:618156 |
| Sepsis In Premature Infants |
|
Decreased liver function, Purpura, Jaundice, Hepatomegaly, Petechiae, Splenomegaly, Pallor |
ORPHA:90051 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Tented philtrum, Thin vermilion border, Brachycephaly, Plagiocephaly, Patellar hypoplasia, Narrow... |
ORPHA:495818 |
| Hemochromatosis, Type 1 |
|
Hyperpigmentation of the skin, Alopecia |
OMIM:235200 |
| Au-Kline Syndrome |
|
Retrognathia, Plagiocephaly, Aortic root aneurysm, Oligodontia, High palate, Downturned corners o... |
OMIM:616580 |
| Developmental And Epileptic Encephalopathy 68 |
|
Flexion contracture, Exaggerated startle response |
OMIM:618201 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, Generalized lymphaden... |
OMIM:602450 |
| Trisomy 20P |
|
Brachycephaly, Abnormal palate morphology, Thin vermilion border, Plagiocephaly, Short philtrum, ... |
ORPHA:261318 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Cerebral atrophy, Brachycephaly, Plagiocephaly, Short philtrum, Dental crowding, Frontal bossing,... |
OMIM:617296 |
| Ring Chromosome 7 Syndrome |
|
Brachycephaly, Situs inversus totalis, Thin vermilion border, Plagiocephaly, Short philtrum, Mand... |
ORPHA:1449 |
| Serkal Syndrome |
|
Pulmonic stenosis, Oligohydramnios, Pulmonary hypoplasia |
ORPHA:139466 |
| Cerebrofaciothoracic Dysplasia |
|
Hypoplasia of the corpus callosum, Brachycephaly, Macrocephaly, Cerebellar vermis hypoplasia, Cer... |
ORPHA:1394 |
| Galloway-Mowat Syndrome 4 |
|
Cerebral atrophy, Plagiocephaly, Polymicrogyria, Cerebellar hypoplasia, Primary microcephaly |
OMIM:617730 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
| Cardiomyopathy, Dilated, 1D |
|
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... |
OMIM:601494 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Patchy alopecia, Multiple cafe-au-lait spots |
ORPHA:85279 |
| Acrofrontofacionasal Dysostosis 2 |
|
Microcephaly, High palate, Brachycephaly |
OMIM:239710 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... |
ORPHA:276621 |
| Coffin-Siris Syndrome 1 |
|
Retrognathia, Duodenal ulcer, Microdontia, Microcephaly, Intestinal malrotation, Wide mouth, Long... |
OMIM:135900 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Gastric varix, Esophageal varix, Splenomegaly |
OMIM:620367 |
| Bartsocas-Papas Syndrome |
|
Alopecia totalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Hypoplastic toen... |
ORPHA:1234 |
| Pheochromocytoma |
|
Congestive heart failure, Episodic hypertension, Renal artery stenosis, Cerebral hemorrhage, Posi... |
OMIM:171300 |
| Sick Sinus Syndrome 2 |
|
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... |
OMIM:163800 |
| Acromelic Frontonasal Dysplasia |
|
Brachycephaly, Patellar hypoplasia, Median cleft palate, Aplasia/Hypoplasia of the tibia, Wide mo... |
ORPHA:1827 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Elbow flexion contracture, Arrhythmia, Knee flexion contractu... |
OMIM:608836 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly |
ORPHA:331206 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Retrognathia, Prominent occiput, Gingival overgrowth, High palate, Micrognathia, Patent ductus ar... |
ORPHA:96191 |
| Letterer-Siwe Disease |
|
Pallor, Jaundice, Hepatosplenomegaly |
OMIM:246400 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplasia of right ventricle, Transposition of the great arteries, Double outlet left ventricle,... |
ORPHA:2255 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Plagiocephaly, Microcephaly, Downturned corners of mouth, Submucous cleft hard palate, Thin upper... |
OMIM:619680 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Small nail, Absent eyelashes, Absent eyebrow, Cafe-au-lait spot, Alopecia |
ORPHA:166035 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Plagiocephaly, Fibular hypoplasia, Aortic root aneurysm, Patent foramen ovale, Macroglossia, Glos... |
ORPHA:444077 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
| 49,Xxxxy Syndrome |
|
Hypoplasia of the corpus callosum, Brachycephaly, Delayed eruption of teeth, Abnormal dental enam... |
ORPHA:96264 |
| Crimean-Congo Hemorrhagic Fever |
|
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Epistaxis, Diffuse alveolar hemorr... |
ORPHA:99827 |
| Loeys-Dietz Syndrome |
|
Orofacial cleft, Vascular dilatation, Arterial tortuosity, Aortic aneurysm, High palate, Arterial... |
ORPHA:60030 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia |
ORPHA:79242 |
| Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:100006 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Brachycephaly, Craniosynostosis |
OMIM:614416 |
| Fucosidosis |
|
Cardiomegaly, Brachycephaly, Abnormality of the dentition |
ORPHA:349 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Elbow flexion contracture, Split hand, Rudiment... |
OMIM:200980 |
| Pfeiffer Syndrome |
|
Shortening of all middle phalanges of the fingers, Dental crowding, Mandibular prognathia, Short ... |
OMIM:101600 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Small nail, Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow... |
ORPHA:544488 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Respiratory infections in early life, Clinodactyly of the 5th finger, Pulmonary hypoplasia, Preax... |
ORPHA:96179 |
| Periventricular Nodular Heterotopia |
|
Pyloric stenosis, Hernia, Gastroesophageal reflux |
ORPHA:98892 |
| Neu-Laxova Syndrome 1 |
|
Rocker bottom foot, Short umbilical cord, Stillbirth, Radial deviation of finger, Small placenta,... |
OMIM:256520 |
| Adrenoleukodystrophy |
|
Hyperpigmentation of the skin, Alopecia |
OMIM:300100 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Pulmonary embolism, Gastrointestinal hemorrhage, Arteriovenous malformation, Hypertension, Cerebr... |
ORPHA:394 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal metaphysis morphology, Hepatomegaly, Hydrocephalus, Bowing of the long bones, Growth del... |
ORPHA:667 |
| Waardenburg Syndrome, Type 4C |
|
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... |
OMIM:613266 |
| Congenital Myopathy 17 |
|
Overlapping fingers, Polyhydramnios, Tapered finger, Hand clenching, Pulmonary hypoplasia, Respir... |
OMIM:618975 |
| Duane-Radial Ray Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Pectoralis hypoplasia, Tr... |
OMIM:607323 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus, Pallor, Hepatomegaly |
OMIM:277400 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Congenital diaphragmatic hernia, Pulmonary insufficiency, Pulmonary artery aneurysm, Arterial tor... |
OMIM:614437 |
| Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Brachycephaly, Plagiocephaly, High, narrow palate, Turricephaly, Short philtrum, High palate, Eve... |
OMIM:613776 |
| Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Brachycephaly, Atrioventricular canal defect, Vascular dilatatio... |
ORPHA:500 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Orofacial cleft, Narrow mouth, Anal atresia, Microcephaly, Intestinal malrotation, Micrognathia, ... |
ORPHA:2166 |
| Acrofrontofacionasal Dysostosis 1 |
|
Brachycephaly, Mandibular prognathia, Oligodontia, Short metacarpal, Cleft upper lip, Cleft palat... |
OMIM:201180 |
| Developmental And Epileptic Encephalopathy 84 |
|
Microcephaly, Plagiocephaly, Thick lower lip vermilion, Smooth philtrum |
OMIM:618792 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly |
ORPHA:544254 |
| Cockayne Syndrome Type 3 |
|
Increased blood pressure, Premature coronary artery atherosclerosis, Aortic root aneurysm, Stroke... |
ORPHA:90324 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circu... |
OMIM:246450 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf... |
ORPHA:3214 |
| Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Rhizomelia, Aortic regurgitation, Aortic aneurysm, Aortic root a... |
ORPHA:666 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Prolonged prothrombin time, Intraventricular hemorrhage, Neonatal death, Intrauterine growth reta... |
OMIM:619055 |
| Autosomal Dominant Hypocalcemia |
|
Irregular hyperpigmentation, Abnormality of the nail, Dry skin, Abnormal fingernail morphology, A... |
ORPHA:428 |
| Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Skeletal muscle hypertrophy, Subdural hemorrhage, Intrauterine growth retardation, Short stature |
OMIM:619714 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Cafe-au-lait spot, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:618541 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Oculogyric crisis, Gastroesophageal reflux, Athetosis, Blepharospasm, Limb dystonia,... |
OMIM:608643 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hematemesis, Melena, Petechiae, Capillary leak, Hypertension, Hypotension, Internal hemorrhage, E... |
ORPHA:340 |
| Fetal Akinesia Deformation Sequence |
|
Camptodactyly of finger, Polyhydramnios, Pulmonary hypoplasia, Absent palmar crease |
ORPHA:994 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hematemesis, Hypertension, Dehydration, Portal hypertension, Neonatal death, Pulmonary hypoplasia... |
OMIM:263200 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Plagiocephaly, Aortic root aneurysm, Stroke, Ascending tubular aorta aneurysm, High palate, Micro... |
ORPHA:536467 |
| Ane Syndrome |
|
Alopecia, Hyperpigmentation of the skin, Hyperpigmented nevi |
ORPHA:157954 |
| Rhombencephalosynapsis |
|
Polydactyly, Hydrocephalus, Finger syndactyly, Short phalanx of finger, Complete duplication of t... |
ORPHA:59315 |
| Mosaic Trisomy 20 |
|
Retrognathia, Abnormal mitral valve morphology, Micrognathia, Cleft palate, Dysplastic tricuspid ... |
ORPHA:1724 |
| Cleidocranial Dysplasia 2 |
|
Supernumerary tooth, Plagiocephaly, Short clavicles, Hypoplasia of the maxilla, Congenital pseudo... |
OMIM:620099 |
| Mandibuloacral Dysplasia |
|
Abnormality of skin pigmentation, Hypoplastic fingernail, Sparse hair, Alopecia |
ORPHA:2457 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Nail dystrophy, Vitiligo, Alopecia universalis, Pigmentary retinopathy, Alopecia |
OMIM:240300 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Scaling skin, Scarring alopecia of scalp, Abnormality of the nail, Patchy alopecia, Sparse eyelas... |
ORPHA:35173 |
| Satoyoshi Syndrome |
|
Alopecia universalis, Sparse or absent eyelashes, Abnormal hair morphology |
ORPHA:3130 |
| Blomstrand Lethal Chondrodysplasia |
|
Hydrops fetalis, Rhizomelia, Polyhydramnios, Flared metaphysis, Metaphyseal cupping, Short metaca... |
ORPHA:50945 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Growth delay, Cerebral vasculitis, Subarachnoid hemorrhage |
OMIM:243700 |
| 48,Xxxy Syndrome |
|
Brachycephaly, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognathi... |
ORPHA:96263 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute pancreatit... |
ORPHA:20 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Esophageal atresia, Atrophic scars, Congenital pyloric atresia, Enamel hypoplasia, Arthrogryposis... |
OMIM:226730 |
| Nestor-Guillermo Progeria Syndrome |
|
Nail dystrophy, Sparse scalp hair, Dry skin, Sparse eyelashes, Sparse eyebrow, Spotty hyperpigmen... |
OMIM:614008 |
| Brittle Cornea Syndrome 1 |
|
Palmoplantar cutis laxa, Red hair |
OMIM:229200 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Subdural hemorrhage, Retinal hemorrhage, Communicating hydrocephalus |
ORPHA:25 |
| Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Brachycephaly, Wide mouth |
OMIM:616083 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Scaling skin, Nail dystrophy, Sparse hair, Palmoplantar keratoderma, Alopecia universalis, Follic... |
ORPHA:158668 |
| Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage |
ORPHA:100008 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Macrocephaly, 11 pairs of ribs, Aortic root aneurysm, Optic nerve hypoplasia, Aortopulmonary wind... |
OMIM:620025 |
| Fountain Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:3219 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Mottled pigmentation, Sparse hair, Brittle hair |
OMIM:608612 |
| Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia |
OMIM:600142 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Brachycephaly, High, narrow palate, Thick lower lip vermilion, Short philtrum, Dental crowding, M... |
OMIM:309583 |
| Hutchinson-Gilford Progeria Syndrome |
|
Ventricular hypertrophy, Hypertension, Aortic valve stenosis, Abnormal mitral valve morphology, A... |
ORPHA:740 |
| Peters Plus Syndrome |
|
Pulmonic stenosis, Microcephaly, Wide mouth, Long philtrum, Abnormal cardiac septum morphology, R... |
ORPHA:709 |
| Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
| Hyperekplexia 1 |
|
Exaggerated startle response, Inguinal hernia, Umbilical hernia |
OMIM:149400 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Polyhydramnios, Postaxial polydactyly |
OMIM:219730 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Brachycephaly, Posterior plagiocephaly, Macrocephaly, Cerebellar vermis hypoplasia, Optic nerve h... |
OMIM:620330 |
| Aymé-Gripp Syndrome |
|
Hypoplasia of the corpus callosum, Brachycephaly, Plagiocephaly, Oligodontia, Narrow mouth, Cereb... |
ORPHA:1272 |
| Familial Bicuspid Aortic Valve |
|
Abnormal left ventricular outflow tract morphology, Aortic arch aneurysm, Aortic valve stenosis, ... |
ORPHA:402075 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Microcephaly, Bifid uvula, Abnormality of the anus, Bicuspid aortic valve, Short 5th finger, Long... |
OMIM:607872 |
| Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Gastrointestinal telangiectas... |
ORPHA:90291 |
| Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
OMIM:135100 |
| Duplication Of The Pituitary Gland |
|
Retrognathia, Supernumerary tooth, Brachyturricephaly, Microcephaly, Volvulus, Cleft palate, Wide... |
ORPHA:314621 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Tessier cleft, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Cleft palate, Tetralogy... |
ORPHA:306542 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Pulmonary artery stenosis, Cleft lip, Ventricular septal defect, Cleft palate |
OMIM:611812 |
| Idiopathic Hypereosinophilic Syndrome |
|
Congestive heart failure, Myocardial eosinophilic infiltration, Supraventricular arrhythmia, Tran... |
ORPHA:3260 |
| Diaphanospondylodysostosis |
|
Hammertoe, Increased nuchal translucency, Pulmonary hypoplasia, Narrow pelvis bone, Oligohydramni... |
OMIM:608022 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele |
ORPHA:2031 |
| 1Q41Q42 Microdeletion Syndrome |
|
Pulmonary hypoplasia, Holoprosencephaly, Talipes equinovarus |
ORPHA:250999 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Cardiomyopathy, Pulmonary hypoplasia, Congestive heart failure, Oligohydramnios |
OMIM:616866 |
| Oculocerebrocutaneous Syndrome |
|
Hypopigmented skin patches, Abnormal fingernail morphology, Alopecia |
ORPHA:1647 |
| Arboleda-Tham Syndrome |
|
Pulmonic stenosis, Microcephaly, Intestinal malrotation, Wide mouth, Craniosynostosis, Primary mi... |
OMIM:616268 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Intrauterine growth retardation, Pallor, Short stature |
OMIM:301310 |
| Pelvis-Shoulder Dysplasia |
|
Hydrocephalus, Spina bifida, Hydranencephaly |
ORPHA:2839 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
| Limb-Mammary Syndrome |
|
Nail dysplasia, Breast aplasia, Hypoplastic nipples, Multiple cafe-au-lait spots, Absent nipple, ... |
ORPHA:69085 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Subluxation of the small joints of the hand, Abnormal femoral head morphology, Abnormal finger mo... |
ORPHA:536471 |
| Waldenström Macroglobulinemia |
|
Splenomegaly, Purpura, Hepatomegaly, Pallor |
ORPHA:33226 |
| Fetal Akinesia Deformation Sequence 1 |
|
Rocker bottom foot, Short umbilical cord, Stillbirth, Polyhydramnios, Small placenta, Slender lon... |
OMIM:208150 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Prolonged neonatal jaundice, Pallor, Jaundice, Splenomegaly |
OMIM:300908 |
| Beta-Ketothiolase Deficiency |
|
Pallor, Hepatomegaly |
ORPHA:134 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Polyhydramnios, Rhizomelia, Epiphyseal stippling, Stippled calcification in carpal bones, Abnorma... |
OMIM:302960 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Nail dysplasia, Nail dystrophy, Alopecia |
OMIM:226600 |
| Gapo Syndrome |
|
Nail dysplasia, Breast hypoplasia, Redundant skin, Hypoplastic nipples, Sparse eyelashes, Sparse ... |
OMIM:230740 |
| Robinow-Sorauf Syndrome |
|
Plagiocephaly, Malar flattening, Craniosynostosis, Pansynostosis |
OMIM:180750 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Rhizomelic leg shortening, Early ossification of capital femoral epiphys... |
ORPHA:397715 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Postnatal growth retardation, Aortic aneurysm, Hydrocephalus, Cardiomyopathy, Spina bifida, Pulmo... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Postnatal growth retardation, Aortic aneurysm, Hydrocephalus, Cardiomyopathy, Spina bifida, Pulmo... |
ORPHA:363958 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal malrotation, Pyloric stenosis, Congenital shortened small intestine, Intestinal pseudo... |
OMIM:300048 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Mosaic Trisomy 9 |
|
Dextrocardia, Abnormal heart valve morphology, Spina bifida, Camptodactyly of finger, Patent duct... |
ORPHA:99776 |
| Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Genu valgum, Limb undergrowth |
OMIM:619142 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly |
OMIM:601374 |
| Adams-Oliver Syndrome |
|
Hypoplastic fingernail, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Alopecia |
ORPHA:974 |
| Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Pallor, Hepatomegaly |
ORPHA:137675 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hydrocephalus, Peau d'orange, Postaxial polydactyly, Hip dysplasia |
OMIM:614576 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Septo-optic dysplasia, Microcephaly, Wide mouth, Short finger, Agenesis of incisor, Short philtru... |
OMIM:619841 |
| Dyskeratosis Congenita, Digenic |
|
Sparse eyelashes, Abnormality of skin pigmentation, Nail dystrophy, Alopecia |
OMIM:620040 |
| Anauxetic Dysplasia 3 |
|
Retrognathia, Plagiocephaly, Oligodontia, Short metacarpal, Short middle phalanx of finger |
OMIM:618853 |
| Laurence-Moon Syndrome |
|
Brachycephaly |
ORPHA:2377 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Pneumothorax, Tricuspid regurgitation, Pulmonary hypoplasia, Short femur, Short tibia, Talipes eq... |
OMIM:620306 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia |
ORPHA:412057 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Periventricular white matter hyperintensities, Plagiocephaly, Turricephaly, Short philtrum, High ... |
OMIM:620224 |
| Myopathy, Mitochondrial, And Ataxia |
|
Short stature, Pallor, Growth delay |
OMIM:617675 |
| Carpenter Syndrome 2 |
|
Narrow palate, Situs inversus totalis, Retrognathia, Transposition of the great arteries, High, n... |
OMIM:614976 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Brachycephaly, Plagiocephaly, Ce... |
ORPHA:500055 |
| Gapo Syndrome |
|
Hypopigmented skin patches, Sparse eyelashes, Sparse eyebrow, Early balding, Alopecia |
ORPHA:2067 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
| Rheumatic Fever |
|
Pallor, Erythema |
ORPHA:3099 |
| Van Der Woude Syndrome |
|
Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip... |
ORPHA:888 |
| 2P15P16.1 Microdeletion Syndrome |
|
Brachycephaly, Retrognathia, Optic nerve hypoplasia, High palate, Everted lower lip vermilion, Na... |
ORPHA:261349 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Short stature, Hypertension, Intracranial hemorrhage |
ORPHA:90795 |
| Metachromatic Leukodystrophy |
|
Neoplasm of the gallbladder, Tremor, Dystonia, Abnormal duodenum morphology, Abnormal stomach mor... |
ORPHA:512 |
| Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macronodular cirrhosis, Ex... |
OMIM:557000 |
| Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Plagiocephaly, Thin corpus callosum, Macrocephaly, Patent ductus arteriosus, Short philtrum, Cere... |
OMIM:620455 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... |
ORPHA:29072 |
| Congenital Myopathy 13 |
|
Brachycephaly, High palate, Microcephaly, Downturned corners of mouth, Micrognathia, Cleft palate |
OMIM:255995 |
| Congenital Myopathy 22B, Severe Fetal |
|
Polyhydramnios, Tapered toe, Slender long bone, Shoulder flexion contracture, Elbow flexion contr... |
OMIM:620369 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Mitral regurgitation, Postaxial polydactyly |
OMIM:603387 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Hypoplasia of the corpus callosum, Secondary microcephaly, Plagiocephaly, Widely spaced teeth, Ce... |
ORPHA:496641 |
| Meester-Loeys Syndrome |
|
Pulmonary artery aneurysm, Dilatation of the cerebral artery, Aortic root aneurysm, Ascending tub... |
OMIM:300989 |
| Bardet-Biedl Syndrome 6 |
|
Postaxial polydactyly, Syndactyly |
OMIM:605231 |
| Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Hydrocephalus, Anemic pallor, Aplasia of the 1st metacarpal, Short stature, Com... |
OMIM:227646 |
| Long Qt Syndrome 15 |
|
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... |
OMIM:616249 |
| Holoprosencephaly 3 |
|
Solitary median maxillary central incisor, Proboscis, Microcephaly, Cleft palate, Bifid uvula, Ma... |
OMIM:142945 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Short stature, Intraventricular hemorrhage |
OMIM:616430 |
| Congenital Tracheomalacia |
|
Patent ductus arteriosus, Esophageal atresia, Right aortic arch, Tracheoesophageal fistula, Doubl... |
ORPHA:95430 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Rocker bottom foot, Hydrops fetalis, Dislocated radial head, Camptodactyly, Camptodactyly of toe,... |
OMIM:265000 |
| Loeys-Dietz Syndrome 1 |
|
Retrognathia, Pulmonary artery aneurysm, Dilatation of the cerebral artery, Arterial tortuosity, ... |
OMIM:609192 |
| Superficial Siderosis |
|
Abnormal bleeding, Arteriovenous malformation, Abnormal vertebral artery morphology, Internal hem... |
ORPHA:247245 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Scaling skin, Alopecia universalis, Patchy alopecia |
OMIM:606367 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia |
ORPHA:453533 |
| Xeroderma Pigmentosum |
|
Hypopigmented skin patches, Hypermelanotic macule, Hyperkeratosis, Dry skin, Melanocytic nevus, F... |
ORPHA:910 |
| Immunodeficiency, Common Variable, 10 |
|
Alopecia totalis, Trachyonychia |
OMIM:615577 |
| Aicardi Syndrome |
|
Plagiocephaly, Intestinal polyposis, Short philtrum, Polymicrogyria, Missing ribs, Microcephaly, ... |
ORPHA:50 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Brachycephaly, Delayed eruption of teeth, Gingival overgrowth, Hypoplasia of the maxilla, Frontal... |
OMIM:259600 |
| Monosomy 9P |
|
Brachycephaly, High palate, Abnormality of the dentition, Narrow mouth, Microcephaly, Trigonoceph... |
ORPHA:261112 |
| Cardiac-Urogenital Syndrome |
|
Mesocardia, Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, In... |
OMIM:618280 |
| Marden-Walker Syndrome |
|
Camptodactyly, Arachnodactyly, Pulmonary hypoplasia, Radioulnar synostosis, Talipes equinovarus, ... |
OMIM:248700 |
| Linear Nevus Sebaceus Syndrome |
|
Plagiocephaly, Prominent occiput, Cerebral calcification, Dandy-Walker malformation, Porencephali... |
ORPHA:2612 |
| Renal Agenesis |
|
Oligohydramnios, Hypertension, Pulmonary hypoplasia, Talipes equinovarus |
ORPHA:411709 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Brachycephaly, Open bite, High palate, Everted lower lip vermilion, Frontal bossing, Micrognathia... |
ORPHA:1974 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Brachycephaly, Micromelia, Dolichocephaly, Mesomelia, Aplasia/Hypoplasia of the radius |
ORPHA:2633 |
| Mogs-Cdg |
|
Fair hair, Hirsutism, Long eyelashes, Alopecia |
ORPHA:79330 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Retrognathia, Abnormal aortic arch morphology, Short ribs, Microcephaly, Long philtrum, Short phi... |
ORPHA:96334 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98795 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly, Oligohydramnios |
OMIM:615824 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Premature graying of hair, Nail dystrophy, Absent eyelashes, Sparse scalp hair, Absent eyebrow, S... |
OMIM:268400 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Nail dystrophy, Hyperpigmentation of the skin, Abnormal hair morphology |
ORPHA:90154 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Nail dystrophy, Hyperpigmentation of the skin, Absent eyelashes, Patchy alopecia, Sparse eyelashe... |
OMIM:106260 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Brachycephaly, Short philtrum, Hypodontia, Patent foramen ovale, Intra-oral hyperpigmentation, Hi... |
OMIM:619127 |
| Dihydropyrimidinase Deficiency |
|
Microcephaly, Plagiocephaly, Abnormal cerebral white matter morphology, Anal atresia |
OMIM:222748 |
| 6Q Terminal Deletion Syndrome |
|
Hypoplasia of the corpus callosum, Plagiocephaly, High, narrow palate, Macrocephaly, Polymicrogyr... |
ORPHA:75857 |
| Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Hepatic arteriovenous malformation, Arteriovenous malformation, Spon... |
ORPHA:2929 |
| Holoprosencephaly 2 |
|
Solitary median maxillary central incisor, Proboscis, Bilateral cleft palate, Median cleft palate... |
OMIM:157170 |
| Medulloblastoma |
|
Hydrocephalus, Cerebellar hemorrhage |
ORPHA:616 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Osteogenesis Imperfecta, Type Xvii |
|
Short stature, Intraventricular hemorrhage, Decreased muscle mass |
OMIM:616507 |
| Caudal Regression Syndrome |
|
Abnormal iliac wing morphology, Hypertension, Abnormal pelvic girdle bone morphology, Pulmonary h... |
ORPHA:3027 |
| Acrocephalopolydactylous Dysplasia |
|
Extrapulmonary lobar sequestration, Postaxial hand polydactyly, Ascites, Micromelia, Pulmonary hy... |
OMIM:200995 |
| Scleromyxedema |
|
Stroke, Narrow mouth, Transient ischemic attack, Abnormal pulmonary artery morphology, Abnormal c... |
ORPHA:167635 |
| Holoprosencephaly 1 |
|
Tessier cleft, Proboscis, Median cleft palate, Microcephaly, Agenesis of corpus callosum, Cerebel... |
OMIM:236100 |
| Naxos Disease |
|
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... |
OMIM:601214 |
| Fibrochondrogenesis |
|
Plagiocephaly, Short ribs, Narrow mouth, Micromelia, Cleft palate, Hypoplastic scapulae |
ORPHA:2021 |
| Immunodeficiency 7 |
|
Vitiligo, Patchy alopecia |
OMIM:615387 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Breast hypoplasia, Alopecia of scalp, Abnormal eyebrow morphology, Sparse eyebrow, Sparse pubic h... |
ORPHA:2232 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Gastroesophageal reflux, Exaggerated startle response |
OMIM:620114 |
| Warburg Micro Syndrome 2 |
|
Secondary microcephaly, Hypoplasia of the corpus callosum, Global brain atrophy, Brachycephaly, P... |
OMIM:614225 |
| Marfan Syndrome |
|
Congestive heart failure, Tricuspid valve prolapse, Abnormal left ventricular function, Dilatatio... |
ORPHA:558 |
| Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Hypoplasia of the radius, Polyhydramnios, Hydrocephalus, Spina bifida, Pulmo... |
ORPHA:3412 |
| Leprosy |
|
Loss of eyelashes, Acral ulceration, Hyperkeratosis, Penetrating foot ulcers, Absent eyebrow, Spa... |
ORPHA:548 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Flexion contracture, Exaggerated startle response |
OMIM:609541 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Retrognathia, Cleft soft palate, Bifid uvula, Unilateral cleft lip, Cleft palate |
ORPHA:2736 |
| Roberts Syndrome |
|
Brachycephaly, Hypoplasia of the radius, Mesomelic arm shortening, Aplasia/Hypoplasia of the thum... |
ORPHA:3103 |
| Choanal Atresia |
|
Polydactyly, Recurrent respiratory infections |
ORPHA:137914 |
| Juvenile Dermatomyositis |
|
Skin ulcer, Dry skin, Erythema, Alopecia |
ORPHA:93672 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Brachycephaly, Narrow mouth, Cleft palate, M... |
OMIM:601353 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Brachycephaly, Macrocephaly, Thick lower lip... |
OMIM:309590 |
| Aneurysm-Osteoarthritis Syndrome |
|
Retrognathia, Dilatation of the cerebral artery, Vascular dilatation, Arterial tortuosity, Patent... |
ORPHA:284984 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Brachycephaly, Short metatarsal, Delayed eruption of teeth, Mandibular prognathia, Calvarial hype... |
OMIM:101800 |
| Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
| Genitopatellar Syndrome |
|
Hypoplastic ilia, Hypoplastic ischia, Short palm, Hip contracture, Pulmonary hypoplasia, Patellar... |
ORPHA:85201 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the corpus callosum, Plagiocephaly, Hypoplastic aortic arch, Optic nerve hypoplasia... |
ORPHA:457284 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Cerebral hemorrhage |
OMIM:301081 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Multiple joint contractures, Exaggerated startle response |
ORPHA:320406 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Brachycephaly, Plagiocephaly, Widely spaced teeth, Delayed eruption of teeth, Gingival overgrowth... |
OMIM:301072 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Retrognathia, Plagiocephaly, Cerebellar vermis hypoplasia, Dental crowding, Mandibular prognathia... |
OMIM:620083 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor, Hepatomegaly, Splenomegaly |
ORPHA:98849 |
| Saethre-Chotzen Syndrome |
|
Narrow palate, Brachycephaly, Plagiocephaly, Open bite, Hypoplasia of the maxilla, Cleft palate, ... |
ORPHA:794 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia |
OMIM:304790 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Brachycephaly, Retrognathia, Plagiocephaly, Thick lower lip vermilion, Tooth malposition, Cerebra... |
ORPHA:2785 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Elbow flexion contracture, Exaggerated startle response, Hip contracture, Flexion contracture, Dy... |
OMIM:617301 |
| Miller-Dieker Lissencephaly Syndrome |
|
Polydactyly, Polyhydramnios, Deep palmar crease, Clinodactyly of the 5th finger, Single transvers... |
OMIM:247200 |
| Johanson-Blizzard Syndrome |
|
Abnormal hair pattern, Alopecia |
ORPHA:2315 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Congenital Diaphragmatic Hernia |
|
Pulmonary hypoplasia |
ORPHA:2140 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Hirsutism, Striae distensae, Alopecia |
ORPHA:189427 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Tremor, Lymph node hypoplasia, Splenomegaly |
OMIM:613179 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Brachycephaly, Thin vermilion border, Micromelia, Long philtrum, Hypoplasia of the zygomatic bone |
OMIM:614800 |
| Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Hypoplasia of the corpus callosum, Brachycephaly, Macrocephaly, Widely spaced teeth, Cerebral whi... |
OMIM:616728 |
| Rothmund-Thomson Syndrome |
|
Nail dysplasia, Small nail, Abnormality of the nail, Hypopigmentation of the skin, Sparse eyelash... |
ORPHA:2909 |
| Elsahy-Waters Syndrome |
|
Brachycephaly, Supernumerary tooth, Agenesis of incisor, Thick lower lip vermilion, Anal stenosis... |
OMIM:211380 |
| Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
| Mixed Connective Tissue Disease |
|
Purpura, Alopecia |
ORPHA:809 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Alopecia, Low posterior hairline, Hyperpigmented nevi |
ORPHA:2959 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Narrow palate, Brachycephaly, Dental crowding, High palate, Narrow mouth, Ankyloglossia, Frontal ... |
OMIM:616078 |
| Degcags Syndrome |
|
Retrognathia, Pulmonic stenosis, Microcephaly, Wide mouth, Long philtrum, Craniosynostosis, Paten... |
OMIM:619488 |
| Craniofrontonasal Syndrome |
|
Hypoplasia of the corpus callosum, Brachycephaly, Abnormality of the dentition, Coronal craniosyn... |
OMIM:304110 |
| Femoral-Facial Syndrome |
|
Aplasia/hypoplasia of the femur, 11 pairs of ribs, Short fifth metatarsal, Truncus arteriosus, Mi... |
OMIM:134780 |
| Sympathetic Ophthalmia |
|
Erythema, Vitiligo, Poliosis, Alopecia |
ORPHA:79098 |
| Joubert Syndrome 39 |
|
Postaxial polydactyly, Occipital encephalocele, Joint contracture of the 5th finger |
OMIM:619562 |
| Sandhoff Disease, Infantile Form |
|
Hepatosplenomegaly, Exaggerated startle response |
ORPHA:309155 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Brachycephaly |
OMIM:612379 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Brachycephaly, Thin vermilion border, Short philtrum, Micrognathia, Wide mouth |
ORPHA:2062 |
| Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Restrictive card... |
ORPHA:75565 |
| Orofaciodigital Syndrome Type 6 |
|
Preaxial polydactyly, Mesoaxial polydactyly, Central Y-shaped metacarpal, Foot polydactyly, Hand ... |
ORPHA:2754 |
| Hellp Syndrome |
|
Prolonged prothrombin time, Hypotension, Cerebral hemorrhage, Internal hemorrhage |
ORPHA:244242 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Brachycephaly, Frontal bossing, Narrow mouth |
OMIM:219150 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Bardet-Biedl Syndrome 12 |
|
Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly |
OMIM:615989 |
| Atypical Werner Syndrome |
|
Premature graying of hair, Skin ulcer, Abnormal hair morphology, Abnormal hair quantity, Hyperker... |
ORPHA:79474 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia |
ORPHA:93160 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Tremor, High palate, Exaggerated startle response |
OMIM:618056 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Plagiocephaly, Dental crowding, High palate, Frontal bossing, Micrognathia, Dolichocephaly, Thick... |
OMIM:619005 |
| Angelman Syndrome Due To A Point Mutation |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:411511 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Large placenta, Radial deviation of finger, Anencephaly, Hydrocephalus, ... |
OMIM:249000 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Gastroesophageal reflux, Exaggerated startle response |
OMIM:608800 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
| Joubert Syndrome 1 |
|
Plagiocephaly, Macrocephaly, Cerebellar vermis hypoplasia, Protruding tongue, Microcephaly, Agene... |
OMIM:213300 |
| Nelson Syndrome |
|
Hypertension, Quadriceps muscle atrophy, Intracranial hemorrhage, Lower limb muscle weakness |
ORPHA:199244 |
| Tarp Syndrome |
|
Rocker bottom foot, Finger syndactyly, Single transverse palmar crease, Postaxial polydactyly, Sh... |
ORPHA:2886 |
| Limb Body Wall Complex |
|
Congenital diaphragmatic hernia, Ectopia cordis, Short umbilical cord, Anencephaly, Encephalocele... |
ORPHA:2369 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, 2-3 toe syndactyly, Postaxial polydactyly, 2-4 toe syndactyly, Brachydact... |
OMIM:614099 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus, Intracranial hemorrhage |
ORPHA:91350 |
| Treacher Collins Syndrome 1 |
|
Cleft soft palate, Narrow mouth, Micrognathia, Cleft palate, Abnormal heart morphology, Wide mout... |
OMIM:154500 |
| Porphyria, Congenital Erythropoietic |
|
Loss of eyelashes, Hyperpigmentation of the skin, Hypopigmentation of the skin, Absent eyebrow, H... |
OMIM:263700 |
| 9P13 Microdeletion Syndrome |
|
Brachycephaly, High palate, Microretrognathia |
ORPHA:324313 |
| Lig4 Syndrome |
|
Microcephaly, Brachycephaly, Chronic sinusitis |
OMIM:606593 |
| Bardet-Biedl Syndrome 1 |
|
Radial deviation of finger, Hypertension, Postaxial hand polydactyly, Foot polydactyly, Postaxial... |
OMIM:209900 |
| 9Q21.13 Microdeletion Syndrome |
|
Polydactyly, Hip dysplasia |
ORPHA:531151 |
| Neurofaciodigitorenal Syndrome |
|
Brachycephaly, Plagiocephaly, Mandibular prognathia, Abnormality of the philtrum, Abnormal oral m... |
ORPHA:2673 |
| Hunter-Macdonald Syndrome |
|
Brachycephaly, Short philtrum, Malar flattening, Mitral valve prolapse, Patent ductus arteriosus,... |
OMIM:611962 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Brachycephaly, Micrognathia, Short ribs, Tooth malposition |
OMIM:156400 |
| Neu-Laxova Syndrome 2 |
|
Spina bifida |
OMIM:616038 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia |
OMIM:253270 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Brachycephaly, Tricuspid valve prolapse, High palate, Narrow mouth, Intestinal malrotation, Cleft... |
OMIM:601776 |
| Basal Cell Nevus Syndrome 1 |
|
Polydactyly, Short 4th metacarpal, Palmar pits, Hydrocephalus, Spina bifida, Brachydactyly, Irreg... |
OMIM:109400 |
| Cornelia De Lange Syndrome |
|
Microcephaly, Intestinal malrotation, Long philtrum, Aplasia/Hypoplasia of the cerebellum, Microm... |
ORPHA:199 |
| 1P36 Deletion Syndrome |
|
Brachycephaly, 11 pairs of ribs, Abnormal heart valve morphology, Abnormal intestine morphology, ... |
ORPHA:1606 |
| Aicardi-Goutières Syndrome |
|
Hypoplasia of the corpus callosum, Calcification of the aorta, Moyamoya phenomenon, Plagiocephaly... |
ORPHA:51 |
| Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
ORPHA:309246 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Cardiomyopathy, Long philtrum, Aplasia/Hypoplasia of the cerebellum, Abnormal cortical gyration, ... |
ORPHA:480880 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Emphysema, Atelectasis, Sandal gap, Single transverse palmar crease, Ascites, Recurrent pneumonia... |
OMIM:613177 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
| Cartilage-Hair Hypoplasia |
|
Brachycephaly, Abnormal palate morphology, Aganglionic megacolon, Rhizomelia, Gingival overgrowth... |
ORPHA:175 |
| Oligomeganephronia |
|
Hypertension, Dehydration, Pulmonary venous occlusion, Pulmonary hypoplasia, Branchial cyst |
ORPHA:2260 |
| Meier-Gorlin Syndrome 7 |
|
Heart block, Dislocated radial head, Aplasia/Hypoplasia of the patella, 2-3 toe syndactyly, Clubb... |
OMIM:617063 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Absent tonsils, Lymph node hypoplasia |
ORPHA:276 |
| Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Trisomy 18 |
|
Congenital diaphragmatic hernia, Anencephaly, Spina bifida, Short stature, Camptodactyly of finge... |
ORPHA:3380 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Brachycephaly, Retrognathia, High, narrow palate, Widely spaced teeth, Cleft soft palate, Short p... |
OMIM:619950 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Nail dysplasia, Scaling skin, Nail dystrophy, Dystrophic fingernails, Alopecia, Hyperkeratosis, P... |
OMIM:308205 |
| Lethal Congenital Contracture Syndrome 9 |
|
Short umbilical cord, Polyhydramnios, Wrist flexion contracture, Ulnar deviation of the hand, Pul... |
OMIM:616503 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Joint contracture, Exaggerated startle response |
OMIM:616881 |
| Renal Agenesis, Bilateral |
|
Pulmonary hypoplasia, Oligohydramnios, Sirenomelia |
ORPHA:1848 |
| Adnp Syndrome |
|
Polydactyly, Sandal gap, Single transverse palmar crease, Abnormal finger morphology, 2-3 toe syn... |
ORPHA:404448 |
| Smith-Lemli-Opitz Syndrome |
|
Abnormal lung lobation, Polyhydramnios, Rhizomelia, Proximal placement of thumb, Abnormal metacar... |
ORPHA:818 |
| Encephalocraniocutaneous Lipomatosis |
|
Linear hyperpigmentation, Alopecia |
OMIM:613001 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Meckel diverticulum, Short ribs, Cardiomyopathy, Pulmonic stenosis, Intestinal malrotation, Trigo... |
OMIM:312870 |
| Distal Triplication 15Q |
|
Hydrocephalus, Arachnodactyly, Pulmonary hypoplasia, Camptodactyly |
ORPHA:314588 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia totalis, Abnormality of the periungual region, Nail dystrophy, Alopecia |
ORPHA:293978 |
| X-Linked Intellectual Disability, Snyder Type |
|
Brachycephaly, Megalencephaly, Thick lower lip vermilion, Short philtrum, Dental crowding, Mandib... |
ORPHA:3063 |
| Dpagt1-Cdg |
|
Prolonged QT interval, Camptodactyly, Stroke-like episode, Flexion contracture, Intracranial hemo... |
ORPHA:86309 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| Rothmund-Thomson Syndrome Type 2 |
|
Nail dysplasia, Facial erythema, Sparse or absent eyelashes, Erythema, Hyperpigmentation of the s... |
ORPHA:221016 |
| Rothmund-Thomson Syndrome Type 1 |
|
Nail dysplasia, Facial erythema, Sparse or absent eyelashes, Hyperpigmentation of the skin, Hypop... |
ORPHA:221008 |
| Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Diastasis recti, Spina bifida, Camptod... |
ORPHA:2092 |
| Lateral Meningocele Syndrome |
|
Meningocele, Umbilical hernia |
ORPHA:2789 |
| Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Hyperkeratosis, Hypopigmentation of the skin, Long eyelashes, Iris hypo... |
ORPHA:79430 |
| H Syndrome |
|
Abnormal eyebrow morphology, Hyperpigmentation of the skin, Hypertrichosis, Alopecia |
ORPHA:168569 |
| Joubert Syndrome 37 |
|
Postaxial polydactyly |
OMIM:619185 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Limb joint contracture, Exaggerated startle response |
OMIM:620327 |
| Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
| Mend Syndrome |
|
Polydactyly, Hydrocephalus, 2-3 toe syndactyly, Aortic valve stenosis, Long fingers, Broad hallux... |
OMIM:300960 |
| Bartsocas-Papas Syndrome 1 |
|
Small nail, Absent eyelashes, Sparse scalp hair, Dry skin, Absent eyebrow, Anonychia, Alopecia to... |
OMIM:263650 |
| Helsmoortel-Van Der Aa Syndrome |
|
Everted lower lip vermilion, Microdontia, Short lower limbs, Abnormal heart morphology, Wide mout... |
OMIM:615873 |
| Gaucher Disease, Perinatal Lethal |
|
Polyhydramnios, Ascites, Neonatal death, Nonimmune hydrops fetalis, Pulmonary hypoplasia |
OMIM:608013 |
| Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology |
ORPHA:234 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Long fingers, Edema, ... |
OMIM:617527 |
| Pediatric Systemic Lupus Erythematosus |
|
Alopecia |
ORPHA:93552 |
| Yunis-Varon Syndrome |
|
Absent sternal ossification, Broad alveolar ridges, Cardiomyopathy, Microcephaly, Hypoplastic fac... |
OMIM:216340 |
| Hyperparathyroidism, Transient Neonatal |
|
Brachycephaly, Stroke, Short ribs, Frontal bossing, Patent ductus arteriosus, Short femur |
OMIM:618188 |
| Roberts-Sc Phocomelia Syndrome |
|
Hypoplasia of the ulna, Brachycephaly, Aplasia of the ulna, Craniosynostosis, High palate, Finger... |
OMIM:268300 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Plagiocephaly, Skull asymmetry, Chronic gastritis, Internal carotid artery dissection, Mandibular... |
OMIM:150230 |
| Pseudoaminopterin Syndrome |
|
Clinodactyly of the 5th toe, Limited elbow movement, Short 4th metacarpal, Hip subluxation, Clubb... |
ORPHA:221120 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Supernumerary tooth, Agenesis of molar, Bicoronal synostosis, Microdontia, Anterior plagiocephaly... |
OMIM:619718 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Plagiocephaly, Downturned corners of mouth, Micrognathia, Smooth philtrum, Long philtrum, Thin up... |
OMIM:618548 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Spina bifida occulta, Finger syndactyly, Camptodactyly of finger, Pulmonary hypoplasia, Symphalan... |
ORPHA:2990 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Plagiocephaly, Aplasia/Hypoplasia involving bones of the skull, Short lingual frenulum, High pala... |
ORPHA:1521 |
| Chronic Granulomatous Disease |
|
Pyloric stenosis, Mediastinal lymphadenopathy, Splenomegaly, Tracheoesophageal fistula |
ORPHA:379 |
| Phakomatosis Pigmentokeratotica |
|
Rhabdomyosarcoma, Arrhythmia, Raynaud phenomenon, Spina bifida |
ORPHA:2874 |
| Koolen-De Vries Syndrome |
|
Abnormality of hair texture, Dry skin, Hypopigmentation of hair |
ORPHA:96169 |
| Dermatomyositis |
|
Facial erythema, Skin ulcer, V-sign, Abnormality of the nail, Abnormal hair quantity, Dry skin, S... |
ORPHA:221 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Narrow palate, Brachycephaly, High palate, Deep philtrum, Wide mouth, Trismus, Dental malocclusio... |
OMIM:227330 |
| Fanconi Anemia, Complementation Group C |
|
Absent radius, Anemic pallor, Short stature, Complete duplication of thumb phalanx, Absent thumb,... |
OMIM:227645 |
| Congenital Tracheal Stenosis |
|
Meckel diverticulum, Abnormal gastrointestinal tract morphology, Anal atresia, Tracheoesophageal ... |
ORPHA:141127 |
| Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
| Microphthalmia, Syndromic 6 |
|
Brachycephaly, Retrognathia, Plagiocephaly, Inferior cerebellar vermis hypoplasia, Lambdoidal cra... |
OMIM:607932 |
| Leigh Syndrome |
|
Frontal hirsutism, Hypertrichosis, Alopecia |
ORPHA:506 |
| Omenn Syndrome |
|
Alopecia |
OMIM:603554 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Corneal neovascularization, Abnormal aortic arch morphology, Hyperte... |
ORPHA:567 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Brachycephaly, Tracheoesophageal fistula, Esophageal atresia, Missing ribs |
OMIM:619859 |
| Fanconi Anemia |
|
Abnormal carotid artery morphology, Abnormal aortic valve morphology, Arteriovenous malformation,... |
ORPHA:84 |
| Neu-Laxova Syndrome |
|
Polyhydramnios, Micromelia, Spina bifida, Large hands, Pulmonary hypoplasia |
ORPHA:2671 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Plagiocephaly, Microcephaly, Secundum atrial septal defect, Patent ductus arteriosus, Bicuspid ao... |
OMIM:613355 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Polydactyly, Clinodactyly of the 5th finger, Aortic regurgitation, Acromesomelia, Aortic valve st... |
ORPHA:464306 |
| Witteveen-Kolk Syndrome |
|
Congenital diaphragmatic hernia, Short stature, Growth delay, Intracranial hemorrhage, Intrauteri... |
OMIM:613406 |
| 14Q22Q23 Microdeletion Syndrome |
|
Brachycephaly, Short 4th metacarpal, Short foot, Short palm, Micrognathia, Downturned corners of ... |
ORPHA:264200 |
| Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
| Prolactinoma |
|
Delayed puberty, Pallor |
ORPHA:2965 |
| Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia |
OMIM:210210 |
| Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
| Stiff-Person Syndrome |
|
Opisthotonus, Exaggerated startle response |
OMIM:184850 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Alopecia universalis |
OMIM:277440 |
| Wiedemann-Rautenstrauch Syndrome |
|
Retrognathia, Relative macrocephaly, Cranial asymmetry, Pulmonic stenosis, Congenital malformatio... |
ORPHA:3455 |
| Meningioma |
|
Hydrocephalus, Facial palsy, Upper limb muscle weakness, Cerebral hemorrhage, Syncope, Lower limb... |
ORPHA:2495 |
| Vater/Vacterl Association |
|
Postnatal growth retardation, Occipital encephalocele, Transposition of the great arteries, Paten... |
OMIM:192350 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Brachycephaly |
ORPHA:1173 |
| Orofaciodigital Syndrome Type 4 |
|
Bilateral lung agenesis, Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, C... |
ORPHA:2753 |
| Duane Retraction Syndrome |
|
Hypoplasia of the radius, Plagiocephaly, Aplasia/Hypoplasia of the thumb, Everted lower lip vermi... |
ORPHA:233 |
| Syndromic Diarrhea |
|
Trichorrhexis nodosa, Hypopigmentation of hair, Brittle hair, Generalized hypopigmentation, Uncom... |
ORPHA:84064 |
| Panhypophysitis |
|
Pallor |
ORPHA:95513 |
| Legius Syndrome |
|
Polydactyly, Clinodactyly of the 5th finger, Non-small cell lung carcinoma, Pulmonic stenosis, Pa... |
ORPHA:137605 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Bilateral talipes equinovarus, Pulmonary hypoplasia, Bronchiectasis, Interstitial emphysema, Over... |
OMIM:619708 |
| Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
| Sandhoff Disease |
|
Macroglossia, Hepatosplenomegaly, Exaggerated startle response |
OMIM:268800 |
| Kbg Syndrome |
|
Brachycephaly, Oligodontia, Microcephaly, Short palm, Tented upper lip vermilion, Long philtrum, ... |
OMIM:148050 |
| Osteogenesis Imperfecta, Type Xi |
|
Brachycephaly, Dentinogenesis imperfecta |
OMIM:610968 |
| Alpha-Mannosidosis, Infantile Form |
|
Brachycephaly, Cranial hyperostosis, Macrocephaly, Abnormality of the sphenoid sinus, Widely spac... |
ORPHA:309282 |
| Biotinidase Deficiency |
|
Alopecia |
OMIM:253260 |
| Nail-Patella Syndrome |
|
Quadriceps aplasia, Biceps aplasia, Spina bifida, Short stature, Absence of pectoralis minor musc... |
OMIM:161200 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Intraventricular hemorrhage, Short stature, Telangiectasia |
ORPHA:420741 |
| Behcet Syndrome |
|
Patchy alopecia, Erythema |
OMIM:109650 |
| Joubert Syndrome 32 |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Hypertrophic cardiomyopathy |
OMIM:617757 |
| Fryns Syndrome |
|
Rocker bottom foot, Stillbirth, Polyhydramnios, Proximal placement of thumb, Chylothorax, Single ... |
OMIM:229850 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Hypertension, Overlapping toe, Hip dislocation, 2-3 toe cutaneous sy... |
OMIM:270400 |
| Reynolds Syndrome |
|
Abnormal gastric mucosa morphology, Dysphagia, Xerostomia, Gastroesophageal reflux |
ORPHA:779 |
| Sheehan Syndrome |
|
Pallor, Dry skin |
ORPHA:91355 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Celiac Disease, Susceptibility To, 1 |
|
Alopecia |
OMIM:212750 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Secondary microcephaly, Cerebellar hemisphere hypoplasia, Thin upper lip vermilion, Brachycephaly |
ORPHA:456312 |
| Orofaciodigital Syndrome Type 1 |
|
Brittle hair, Dry skin, Sparse hair, Coarse hair, Alopecia |
ORPHA:2750 |
| Jacobsen Syndrome |
|
Spina bifida, Aortic valve stenosis, Short stature, Coarctation of aorta, Growth delay, Intrauter... |
ORPHA:2308 |
| Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98794 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypoplastic facial bones, Short humerus, Long philtrum, Dandy-Walker malformation, Frontal bossin... |
OMIM:264090 |
| Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, High palate, Exaggerated startle response |
ORPHA:438216 |
| Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Silver-gray hair, Hypopigmentation of the skin, Giant melanosomes in me... |
OMIM:214500 |
| Localized Scleroderma |
|
Hypopigmented skin patches, Hyperpigmentation of the skin, Patchy alopecia, Vitiligo, Abnormal sk... |
ORPHA:90289 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Plagiocephaly, High, narrow palate, Macrocephaly, Short uvula, Short philtrum, Aortic aneurysm, H... |
OMIM:619475 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Joint contracture, Exaggerated startle response |
OMIM:617864 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia |
ORPHA:98907 |
| Dyskeratosis Congenita, X-Linked |
|
Premature graying of hair, Nail dystrophy, Ridged nail, Hyperpigmentation of the skin, Sparse eye... |
OMIM:305000 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Redundant skin, Alopecia |
ORPHA:536532 |
| Gm1 Gangliosidosis Type 1 |
|
Macroglossia, Hepatosplenomegaly, Abnormal odontoid tissue morphology, Exaggerated startle response |
ORPHA:79255 |
| Restrictive Dermopathy |
|
Transposition of the great arteries, Dextrocardia, Ascending tubular aorta aneurysm, Temporomandi... |
ORPHA:1662 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Mottled pigmentation, Sparse scalp hair, Onychogryposis, Alopecia |
OMIM:248370 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Brachycephaly, Retrognathia, Long philtrum, Thin vermilion border, Rectal prolapse, Short metatar... |
OMIM:617157 |
| Neurofibromatosis, Type I |
|
Aqueductal stenosis, Rhabdomyosarcoma, Hydrocephalus, Hypertension, Renal artery stenosis, Spina ... |
OMIM:162200 |
| Acute Liver Failure |
|
Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleeding, Hypotension, Intracra... |
ORPHA:90062 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Alopecia totalis |
OMIM:618775 |
| Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hypoplastic fingernail, Abnormal hair morphology, Hyperconvex fingernails, Abnormality of the nai... |
ORPHA:2273 |
| Fanconi Anemia, Complementation Group E |
|
Absent radius, Anemic pallor, Short stature, Absent thumb, Short thumb, Complete duplication of t... |
OMIM:600901 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Elevated pulmonary artery pressure, Oligohydramnios, Bidirectional shunt, Pulmonary hypoplasia |
OMIM:619351 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Ascites, Left-to-right shunt, Broad thumb, Syndactyly, Edema, Polydactyly, Aortic regurgitation, ... |
OMIM:619534 |
| Plaa-Associated Neurodevelopmental Disorder |
|
High palate, Exaggerated startle response, Impaired oropharyngeal swallow response, Dystonia, Con... |
ORPHA:521426 |
| Fanconi Anemia, Complementation Group A |
|
Absent radius, Anemic pallor, Short stature, Absent thumb, Short thumb, Complete duplication of t... |
OMIM:227650 |
| Esophageal Atresia |
|
Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Barrett e... |
ORPHA:1199 |
| Frontofacionasal Dysplasia |
|
Brachycephaly, Orofacial cleft, Hypoplasia of the frontal bone, Cleft upper lip, Bifid uvula, Mal... |
OMIM:229400 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Carpal bone hypoplasia, Thick lower lip verm... |
OMIM:610442 |
| Faundes-Banka Syndrome |
|
Plagiocephaly, Frontal bossing, Micrognathia, Cleft palate, Primary microcephaly, Thin upper lip ... |
OMIM:619376 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Ischemic stroke, Corneal neovascularization, Dilation of Virchow-Robin spaces, Hydrocephalus, Ret... |
OMIM:175780 |
| Refractory Anemia With Excess Blasts |
|
Anemic pallor |
ORPHA:86839 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Short distal phalanx of finger, Polyhydramnios, Pulmonary hypoplasia, Abnormal ilium morphology |
OMIM:614080 |
| Alternating Hemiplegia Of Childhood |
|
Pallor |
ORPHA:2131 |
| Mowat-Wilson Syndrome |
|
Focal white matter lesions, Dental crowding, Everted lower lip vermilion, Aortic valve stenosis, ... |
ORPHA:2152 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Cerebral hemorrhage, Patent ductus arteriosus |
OMIM:616682 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:231680 |
| Acute Transverse Myelitis |
|
Distal lower limb muscle weakness, Orthostatic hypotension, Hypertension, Upper limb muscle weakn... |
ORPHA:139417 |
| Cartilage-Hair Hypoplasia |
|
Brachycephaly, Aganglionic megacolon, Anal stenosis, Esophageal atresia, Short palm, Hypoplasia o... |
OMIM:250250 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia |
OMIM:269200 |
| Biotinidase Deficiency |
|
Alopecia |
ORPHA:79241 |
| Bardet-Biedl Syndrome 20 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Postaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:619471 |
| Craniofacial Microsomia 1 |
|
Transverse facial cleft, Right aortic arch, Maxillozygomatic hypoplasia, Vertebral hypoplasia, Hy... |
OMIM:164210 |
| Arthrogryposis, Distal, Type 4 |
|
Cranial asymmetry |
OMIM:609128 |
| Restrictive Dermopathy 1 |
|
Rocker bottom foot, Short umbilical cord, Stillbirth, Polyhydramnios, Short clavicles, Osteolytic... |
OMIM:275210 |
| Tay-Sachs Disease |
|
Tremor, Exaggerated startle response, Dystonia, Dysphagia, Laryngeal dystonia |
ORPHA:845 |
| Fibular Hemimelia |
|
Abnormal heart morphology, Spina bifida |
ORPHA:93323 |
| Pallister-Hall Syndrome |
|
Mesoaxial polydactyly, Oligodactyly, Broad thumb, Umbilical hernia, Polydactyly affecting the 3rd... |
ORPHA:672 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Portal hypertension, Aortic valve stenosis, Neonatal death, Pulmonary hypoplasia, Oligohydramnios |
OMIM:208540 |
| Common Variable Immunodeficiency |
|
Brachycephaly, Vasculitis, Anal atresia, Gastrointestinal stroma tumor |
ORPHA:1572 |
| Lathosterolosis |
|
Meningocele |
ORPHA:46059 |
| Congenital Disorder Of Deglycosylation 1 |
|
Brachycephaly, Dilation of Virchow-Robin spaces, Microcephaly, Open mouth, Short foot, Small hand |
OMIM:615273 |
| Ulbright-Hodes Syndrome |
|
Pneumothorax, Hypoplasia of the radius, Fibular aplasia, Short metacarpal, Humeroradial synostosi... |
ORPHA:3404 |
| Kinsship Syndrome |
|
Polydactyly, Fibular hypoplasia, Dislocated radial head, Single transverse palmar crease, Mesomel... |
OMIM:619297 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Nail dystrophy, Alopecia |
ORPHA:37042 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hypoplasia of the corpus callosum, Calcification of the aorta, Brachycephaly, Bacterial endocardi... |
ORPHA:2072 |
| Hardikar Syndrome |
|
Hematemesis, Gastric varix, Cleft soft palate, Bilateral cleft palate, Esophageal varix, Unilater... |
OMIM:301068 |
| Humeroradial Synostosis |
|
Brachycephaly |
OMIM:236400 |
| Woodhouse-Sakati Syndrome |
|
Fine hair, Sparse hair, Alopecia |
OMIM:241080 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Secondary microcephaly, Brachycephaly, Steatorrhea, Progressive microcephaly, Thin upper lip verm... |
OMIM:616263 |
| Colchicine Poisoning |
|
Alopecia |
ORPHA:31824 |
| Stromme Syndrome |
|
Hydrocephalus, Stillbirth, Preaxial polydactyly |
OMIM:243605 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Pallor |
OMIM:253280 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Growth delay, Anemic pallor |
ORPHA:329971 |
| Diamond-Blackfan Anemia |
|
Triphalangeal thumb, Short stature, Growth delay, Partial duplication of thumb phalanx, Absent th... |
ORPHA:124 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Polydactyly, Short femur, Hypertrophic cardiomyopathy, Short humerus, Recurrent respiratory infec... |
ORPHA:17 |
| Chronic Graft Versus Host Disease |
|
Nail dystrophy, Skin ulcer, Abnormality of skin pigmentation, Onycholysis, Skin vesicle, Erythema... |
ORPHA:99921 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
| Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation |
ORPHA:90354 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Vitiligo, Alopecia |
ORPHA:227990 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... |
ORPHA:163746 |
| Multiple Endocrine Neoplasia Type 2 |
|
Pallor, Neoplasm of the liver |
ORPHA:653 |
| Von Hippel-Lindau Disease |
|
Pallor, Neoplasm of the pancreas, Pancreatic cysts, Pancreatic islet cell adenoma |
ORPHA:892 |
| Relapsing Polychondritis |
|
Purpura, Erythema, Alopecia |
ORPHA:728 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Polydactyly, Short 5th toe, 2-4 toe cutaneous syndactyly, Aortic regurgitation, Aortic valve sten... |
ORPHA:268261 |
| Alstrom Syndrome |
|
Polydactyly, Congestive heart failure, Hypertension, Recurrent pneumonia, Dilated cardiomyopathy |
OMIM:203800 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Polydactyly, Widened distal phalanges, Deviation of the hallux, Broad distal phalanx of finger, P... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Polydactyly, Widened distal phalanges, Deviation of the hallux, Broad distal phalanx of finger, P... |
ORPHA:353277 |
| Monosomy 9Q22.3 |
|
Hydrocephalus, Polydactyly, Palmar pits, Umbilical hernia |
ORPHA:77301 |
| Matthew-Wood Syndrome |
|
Abnormal lung morphology, Pulmonary hypoplasia |
ORPHA:2470 |
| Woodhouse-Sakati Syndrome |
|
Scaling skin, Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:3464 |
| Insulin-Resistance Syndrome Type B |
|
Hirsutism, Alopecia |
ORPHA:2298 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pallor, Pancreatitis |
ORPHA:544482 |
| Asparagine Synthetase Deficiency |
|
Gastroesophageal reflux, Tremor, Exaggerated startle response |
OMIM:615574 |
| Familial Cerebral Cavernous Malformation |
|
Cerebral hemorrhage, Venous malformation |
ORPHA:221061 |
| Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Lymph node hypoplasia |
OMIM:300755 |
| Neuroblastoma |
|
Anemic pallor |
ORPHA:635 |
| Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
| Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Vitiligo, Alopecia |
ORPHA:227982 |
| Liver Disease, Severe Congenital |
|
Left atrial enlargement, Macrocephaly at birth, Plagiocephaly, Protein-losing enteropathy, Chroni... |
OMIM:619991 |
| Scalp-Ear-Nipple Syndrome |
|
Nail dysplasia, Breast aplasia, Patchy alopecia, Dry skin, Sparse pubic hair, Sparse axillary hai... |
OMIM:181270 |
| Schinzel-Giedion Syndrome |
|
Neural tube defect, Hypoplastic pubic bone, Tibial bowing, Camptodactyly, Radioulnar synostosis, ... |
ORPHA:798 |
| 3Mc Syndrome 3 |
|
Preaxial polydactyly, Clinodactyly, Radioulnar synostosis |
OMIM:248340 |
| Autosomal Dominant Robinow Syndrome |
|
Curly eyelashes, Onychogryposis of fingernail, Long eyelashes, Ridged fingernail, Fingernail dysp... |
ORPHA:3107 |
| Tsh-Secreting Pituitary Adenoma |
|
Delayed puberty, Pallor |
ORPHA:91347 |
| Encephalocraniocutaneous Lipomatosis |
|
Abnormal eyelash morphology, Alopecia |
ORPHA:2396 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Polyhydramnios, Short clavicles, Short long bone, Postaxial hand polydactyly, Postaxial polydacty... |
OMIM:617088 |
| Phocomelia, Schinzel Type |
|
Meningocele |
ORPHA:2879 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly |
ORPHA:163681 |
| Joubert Syndrome |
|
Hydrocephalus, Hand polydactyly, Encephalocele, Foot polydactyly |
ORPHA:475 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Hypopigmentation of hair, Ocular albinism |
ORPHA:2719 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:398079 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Brachycephaly, High, narrow palate, Turricephaly, Narrow mouth, Short metacarpal, Shortening of a... |
ORPHA:95699 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
| Fraser Syndrome 1 |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Hydrocephalus, Myelomeningocele, Cutaneous finger... |
OMIM:219000 |
| Rabson-Mendenhall Syndrome |
|
Polydactyly, Cardiomyopathy |
ORPHA:769 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Hyperpigmentation of the skin, Stellate iris, Hypopigmentation of the s... |
ORPHA:177907 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Enamel hypoplasia, Intestinal atresia, Congenital pyloric atresia |
ORPHA:79403 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Optic nerve hypoplasia, Plagiocephaly, Finger aplasia, Polymicrogyria |
ORPHA:45358 |
| Aspartylglucosaminuria |
|
Cerebral atrophy, Brachycephaly, Thick lower lip vermilion, Hypoplastic frontal sinuses, Microcep... |
OMIM:208400 |
| Culler-Jones Syndrome |
|
Postaxial polydactyly |
OMIM:615849 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Nail dystrophy, Abnormality of the nail, Anonychia, Paronychia, Alopecia |
ORPHA:79404 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Abnormal metaphysis morphology, Hydrops fetalis, Abnormal pelvis bone ossification, Postaxial han... |
ORPHA:93271 |
| Tetrasomy 9P |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Hydrocephalus, Pulmon... |
ORPHA:3310 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Hypertension, Ascites, Portal hypertension, Spontaneous pneumothorax... |
ORPHA:731 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:398069 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Exaggerated startle response |
OMIM:620451 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98754 |
| Chédiak-Higashi Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Large clumps of pigment irregularly distr... |
ORPHA:167 |
| Charge Syndrome |
|
Polydactyly, Aqueductal stenosis, Polyhydramnios, Abnormal tibia morphology, Clinodactyly of the ... |
ORPHA:138 |
| Joubert Syndrome 21 |
|
Occipital encephalocele, Pulmonary hypoplasia, Encephalocele |
OMIM:615636 |
| Fraser Syndrome |
|
Abnormal lung lobation, Encephalocele, Finger syndactyly, Myelomeningocele, Pulmonary hypoplasia,... |
ORPHA:2052 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98793 |
| Khan-Khan-Katsanis Syndrome |
|
Postaxial polydactyly, Clinodactyly, Tricuspid regurgitation |
OMIM:618460 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:177904 |
| Knobloch Syndrome 1 |
|
Occipital encephalocele, Occipital meningocele, Spina bifida occulta, Patent ductus arteriosus |
OMIM:267750 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:177901 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Clinodactyly of the 5th f... |
OMIM:149730 |
| Otopalatodigital Syndrome, Type Ii |
|
Postnatal growth retardation, Stillbirth, Hydrocephalus, Spina bifida, Dilatation of the sinus of... |
OMIM:304120 |
| Campomelic Dysplasia |
|
Neonatal short-limb short stature, Disproportionate short-limb short stature, Hydrocephalus, Spin... |
OMIM:114290 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Atrophic scars, Flexion contracture, Congenital pyloric atresia, Scarring alopecia of scalp |
ORPHA:158684 |
| Vici Syndrome |
|
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Ocular albinism |
OMIM:242840 |
| Genitopatellar Syndrome |
|
Polyhydramnios, Inferior pubic ramus hypoplasia, Congenital hip dislocation, Hypoplastic ischia, ... |
OMIM:606170 |
| Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Brachycephaly |
ORPHA:2988 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Branchial anomaly, Increased nuchal translucency, Postaxial polydactyly, Hip dysplasia, Talipes e... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Branchial anomaly, Increased nuchal translucency, Postaxial polydactyly, Hip dysplasia, Talipes e... |
ORPHA:352665 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hyperconvex fingernails, Low posterior hairline, Abnormal fingernail morphology, Vitiligo, Melano... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Hyperconvex fingernails, Low posterior hairline, Abnormal fingernail morphology, Vitiligo, Melano... |
ORPHA:99228 |
| Monosomy X |
|
Hyperconvex fingernails, Low posterior hairline, Abnormal fingernail morphology, Vitiligo, Melano... |
ORPHA:99226 |
| Turner Syndrome |
|
Hyperconvex fingernails, Low posterior hairline, Abnormal fingernail morphology, Vitiligo, Melano... |
ORPHA:881 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Dystonia, Exaggerated startle response |
OMIM:620423 |
| Prader-Willi Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:739 |
| Ring Chromosome 13 Syndrome |
|
Cafe-au-lait spot, Abnormality of skin pigmentation, Alopecia |
ORPHA:96176 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Thin eyebrow, Loss of eyelashes, Sparse hair, Alopecia |
ORPHA:2636 |
| Semilobar Holoprosencephaly |
|
Hydrocephalus, Neural tube defect, Short stature, Growth delay |
ORPHA:220386 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Oligohydramnios, Pulmonary hypoplasia |
OMIM:271520 |
| Alobar Holoprosencephaly |
|
Hydrocephalus, Neural tube defect, Short stature, Growth delay |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Hydrocephalus, Neural tube defect, Short stature, Growth delay |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Hydrocephalus, Neural tube defect, Short stature, Growth delay |
ORPHA:93924 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Generalized hypopigmentation, Alopecia |
OMIM:619321 |
| Aicardi Syndrome |
|
Spina bifida |
OMIM:304050 |
| Kikuchi-Fujimoto Disease |
|
Erythema, Alopecia |
ORPHA:50918 |
| Holoprosencephaly 9 |
|
Hydrocephalus, Occipital meningocele, Holoprosencephaly, Alobar holoprosencephaly |
OMIM:610829 |
| Faciocardiomelic Syndrome |
|
Polydactyly, Slender long bone, Hypoplastic pelvis |
OMIM:612731 |
| Tetraamelia Syndrome 1 |
|
Hydrocephalus, Hypoplastic pelvis, Pulmonary hypoplasia, Peripheral pulmonary vessel aplasia |
OMIM:273395 |
| Pallister-Killian Syndrome |
|
Aortic valve stenosis, Umbilical hernia, Edema of the dorsum of feet, Hip dislocation, Rhizomelia... |
OMIM:601803 |
| Steinert Myotonic Dystrophy |
|
Early balding, Alopecia |
ORPHA:273 |
| Arima Syndrome |
|
Occipital meningocele |
OMIM:243910 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Polydactyly, Holoprosencephaly, Hypotension, Abnormal digit morphology |
ORPHA:95494 |
| Primrose Syndrome |
|
Hypoplasia of the corpus callosum, Brachycephaly, Macrocephaly, Thick lower lip vermilion, Increa... |
OMIM:259050 |
| Okamoto Syndrome |
|
Aortic valve stenosis, Polydactyly, Oligohydramnios, Hip dysplasia |
ORPHA:2729 |
| Penile Agenesis |
|
Oligohydramnios, Pulmonary hypoplasia, Bilateral lung agenesis, Bilateral talipes equinovarus |
ORPHA:49 |
| Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
| Vascular Ehlers-Danlos Syndrome |
|
Excessive wrinkled skin, Abnormal eyelash morphology, Abnormality of hair texture, Redundant skin... |
ORPHA:286 |
| Systemic Lupus Erythematosus |
|
Alopecia |
ORPHA:536 |
| Bardet-Biedl Syndrome |
|
Finger syndactyly, Hypertension, Cardiomyopathy, Postaxial polydactyly, Syndactyly, Brachydactyly... |
ORPHA:110 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric hypertrophy, Gastric ulcer |
OMIM:161700 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Dysphagia, Exaggerated startle response |
OMIM:618367 |
| Focal Dermal Hypoplasia |
|
Nail dysplasia, Nail dystrophy, Ridged nail, Linear hyperpigmentation, Brittle hair, Hypoplastic ... |
OMIM:305600 |
| Sarcoidosis |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin, Alopecia |
ORPHA:797 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Brachycephaly, Macrocephaly, Cloverleaf skull, Microcephaly, Frontal bossing, Malar flattening, C... |
OMIM:201750 |
| Pmm2-Cdg |
|
Angina pectoris, Hypertrophic cardiomyopathy, Pericardial effusion, Pericarditis, Intracranial he... |
ORPHA:79318 |
| Cystinosis, Nephropathic |
|
Hypopigmentation of hair, Retinal pigment epithelial mottling, Hypopigmentation of the skin, Pigm... |
OMIM:219800 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Gastroesophageal reflux, Exaggerated startle response, Uterine prolapse, Dystonia, Dysphagia |
ORPHA:438213 |
| African Trypanosomiasis |
|
Alopecia |
ORPHA:3385 |
| Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Abnormal palate morphology, Plagiocephaly |
ORPHA:3042 |
| Microphthalmia, Syndromic 1 |
|
Radial deviation of finger, Short clavicles, Prominent fingertip pads, Camptodactyly, Abnormal pa... |
OMIM:309800 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
High palate, Dysphagia, Exaggerated startle response |
OMIM:619522 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele |
OMIM:276820 |
| Medulloblastoma |
|
|
OMIM:155255 |
| Meningioma, Familial, Susceptibility To |
|
|
OMIM:607174 |
